Frem2 - SNV Details



 Human Rare Diseases 
Fraser syndrome

 Gene Information 
Gene Name Frem2
Old Gene Names for Frem2 6030440p17rik , 8430406n05rik
Gene Description Fras1 related extracellular matrix protein 2 [Source:MGI Symbol;Acc:MGI:2444465]
MGI phenotype Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Kidney development is severely affected and syndactyly is common. Phenotypes of homozygous mutants are indistinguishable from those of Fras1 homozygous mutant.
Uniprot Name
CCDS Name
Gene GO
inner ear development; basement membrane; morphogenesis of an epithelium; membrane; integral to membrane; cell communication; homophilic cell adhesion; plasma membrane; calcium ion binding
Homolog in other species FREM2
Omim http://omim.org/entry/608945
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037016
Chromosome 3
Coordinate 53,551,346     (Assembly: GRCm38)    
Ref Base A
Var Base C
Zygosity Heterozygous
Read Depth 23
Allele Frequency
A:R0.57
C:V0.44
Amino Acid Change V->G (Valine -> Glycine)
Sample ID IGL02638
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved