Arhgap5 - SNV Details



 Gene Information 
Gene Name Arhgap5
Gene Description Rho GTPase activating protein 5 [Source:MGI Symbol;Acc:MGI:1332637]
MGI phenotype Homozygotes die at birth, are 30% smaller, do not inflate their lungs, and show a small thymus, abnormal adipocyte differentiation and brain defects in the corpus callosum, anterior commissure and lateral ventricles. Mutant MEFs show impaired adipogenesis but undergo myogenesis in response to IGF-1.
Uniprot Name
CCDS Name
Gene GO
GTP binding
SH2 domain binding
intracellular
protein transport
signal transduction
small GTPase mediated signal transduction
Homolog in other species ARHGAP5
Omim http://omim.org/entry/602680
Immgen Expression
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
Gnf Expression
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000035133
Chromosome 12
Coordinate 52,517,281     (Assembly: GRCm38)    
Ref Base C
Codon Change gCt/gAt
Var Base A
Zygosity Heterozygous
Read Depth 39
Allele Frequency
C:0.54
A:0.46
Amino Acid Position 345
Amino Acid Change A->D (Alanine -> Aspartic acid)
Sample ID IGL00679
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 14 Other Mutations

 Predictions 
Polyphen Score 0.87
Polyphen Prediction Possibly damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved