Cdh4 - SNV Details



 Gene Information 
Gene Name Cdh4
Old Gene Names for Cdh4 Rcad , Aw120700
Gene Description cadherin 4 [Source:MGI Symbol;Acc:MGI:99218]
MGI phenotype Homozygous mutation of this gene results in dilation of the proximal renal tubules and extensive vacuolization of tubule epithelium. Uretic bud epithelium appear disorganized and exhibit increased apoptosis at E15.5.
Uniprot Name
CCDS Name
Gene GO
membrane; homophilic cell adhesion; positive regulation of axon extension; integral to plasma membrane; heterophilic cell-cell adhesion; axon guidance; plasma membrane; calcium ion binding
Homolog in other species CDH4
Omim http://omim.org/entry/603006
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN PREOPTIC)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000000305
Chromosome 2
Coordinate 179,874,144     (Assembly: GRCm38)    
Ref Base A
Codon Change Aca/Gca
Var Base G
Zygosity Heterozygous
Read Depth 62
Allele Frequency
A:R0.61
G:V0.39
Amino Acid Position 372
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL01149
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 31 Other Mutations

 Predictions 
Polyphen Score 0.93
Polyphen Prediction Possibly damaging
Sift Score 0.01
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000000314:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Cadherin-like Cadherin-like IPR015919 ENSMUSP00000000314 Superfamily 267
381 Description available Search pathways
Cadherin Cadherin IPR002126 ENSMUSP00000000314 Prosite_profiles 275
389 Description available Search pathways
Cadherin Cadherin IPR002126 ENSMUSP00000000314 Pfam 279
380 Description available Search pathways
Cadherin Cadherin IPR002126 ENSMUSP00000000314 Smart 296
387 Description available Search pathways

 Availability Details 
Availability Cryopreserved