Mfrp membrane frizzled-related protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mfrpprovided by MGI
Official Full Name: membrane frizzled-related proteinprovided by MGI
Primary source: MGI:MGI:2385957
See related: Ensembl:ENSMUSG00000034739 AllianceGenome:MGI:2385957
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: rd6
Summary: The protein encoded by this gene contains a region with similarity to the cysteine-rich domain (CRD) of frizzled, a gene originally found in Drosophila that controls tissue polarity. This protein functions in eye development, where it is necessary for the maintenance of photoreceptor outer segments. Mutations in this gene cause retinal degeneration 6 in mice, which gives rise to a mouse model for human retinitis punctata albescens. Bicistronic transcripts composed of the coding sequences for this gene (Mfrp) and the C1q and tumor necrosis factor related protein 5 gene (C1qtnf5) have been identified, and the resulting products can interact with each other. Co-transcription of C1qtnf5 and Mfrp has been observed in both human and mouse. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
Expression: Biased expression in genital fat pad adult (RPKM 22.4), adrenal adult (RPKM 3.8) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 A5.1; 9 24.6 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (44013067..44020484)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (44101770..44109187)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes.
Title: Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes.
Identification of MFRP and the secreted serine proteases PRSS56 and ADAMTS19 as part of a molecular network involved in ocular growth regulation.
Title: Identification of MFRP and the secreted serine proteases PRSS56 and ADAMTS19 as part of a molecular network involved in ocular growth regulation.
both MFRP and AdipoR1 proteins are necessary for retinal lipidome membrane organization, visual function, and to the understanding of the early pathology of retinal degenerative diseases
Title: Membrane-type frizzled-related protein regulates lipidome and transcription for photoreceptor function.
Transcripts of Prss56, a gene associated with angle-closure glaucoma, posterior microphthalmia and myopia, were increased in Mfrprd6 eyes by 17-fold.
Title: Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs.
the severity of the Mfrp(rd6) retinal degenerative phenotype in mice depends on the strain genetic background and that a significant modifier locus on CAST/EiJ Chromosome 1 protects against Mfrp(rd6)-associated photoreceptor loss.
Title: Genetic modifier loci of mouse Mfrp(rd6) identified by quantitative trait locus analysis.
The authors have identified a novel null mutation in mouse Mfrp. This mutation causes photoreceptor degeneration and eventual RPE atrophy, which may be related to alterations in the number of RPE microvilli.
Title: 174delG mutation in mouse MFRP causes photoreceptor degeneration and RPE atrophy.
involvement of the Mfrp gene expressed by retinal pigment epithelium in the degeneration of photoreceptors
Title: Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (3) 1 citation
Targeted (2) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within eye photoreceptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: membrane frizzled-related protein

Names: membrane-type frizzled-related protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001190314.1 → NP_001177243.1 membrane frizzled-related protein isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.

Source sequence(s)

AC148328, AF469650, AK053629

Consensus CDS

CCDS52776.1

UniProtKB/TrEMBL

A0A0U1RNR7

Related

ENSMUSP00000124456.2, ENSMUST00000161381.8

Conserved Domains (3) summary

cd00041
Location:307 → 419

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00112
Location:266 → 300

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

pfam01392
Location:465 → 567

Fz; Fz domain
NM_147126.3 → NP_667337.1 membrane frizzled-related protein isoform 1

See identical proteins and their annotated locations for NP_667337.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AF469650, AK053629

Consensus CDS

CCDS40597.1

UniProtKB/Swiss-Prot

Q8BPP4, Q8K480

UniProtKB/TrEMBL

A0A0U1RNR7

Related

ENSMUSP00000034654.8, ENSMUST00000034654.9

Conserved Domains (3) summary

cd00041
Location:307 → 419

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00112
Location:266 → 300

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

pfam01392
Location:471 → 573

Fz; Fz domain