Iqgap2 - SNV Details



 Gene Information 
Gene Name Iqgap2
Old Gene Names for Iqgap2 Ai788777 , 4933417j23rik
Gene Description IQ motif containing GTPase activating protein 2 [Source:MGI Symbol;Acc:MGI:2449975]
MGI phenotype Mice homozygous for a null mutation display reduced survival with increased incidence of hepatocellular carcinomas, increased hepatocyte apoptosis, and hepatocyte mitochondrial abnormalities.
Uniprot Name
CCDS Name
Gene GO
regulation of small GTPase mediated signal transduction; signal transduction; mitochondrial respiratory chain complex III; mitochondrial electron transport
ubiquinol to cytochrome c; intracellular; microtubule; small GTPase mediated signal transduction; protein binding; Ras GTPase activator activity; GTPase activator activity; extracellular vesicular exosome; microvillus; calmodulin binding; positive regulation of Ras GTPase activity; phosphatidylinositol-3
4
5-trisphosphate binding
Homolog in other species IQGAP2
Omim http://omim.org/entry/605401
Immgen Expression
HIGH(LOWER IN BCELL GROUP, T.DPSM.TH, DC.LC.SK, MF.THIO5.II-480HI.PC)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN KIDNEY, LIVER, IMM GROUP, OSTEO GROUP, PROSTATE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021676
Chromosome 13
Coordinate 95,671,404     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 30
Allele Frequency
C:R0.57
A:V0.43
Amino Acid Change R->L (Arginine -> Leucine)
Sample ID IGL02685
Median Base Quality 40
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved