Adap2 - SNV Details



 Gene Information 
Gene Name Adap2
Old Gene Names for Adap2 Centa2
Gene Description ArfGAP with dual PH domains 2 [Source:MGI Symbol;Acc:MGI:2663075]
Uniprot Name
CCDS Name
Gene GO
mitochondrial envelope; regulation of ARF GTPase activity; cytoplasm; positive regulation of GTPase activity; zinc ion binding; phosphatidylinositol-3
4-bisphosphate binding; protein binding; inositol 1
3
4
5 tetrakisphosphate binding; ARF GTPase activator activity; phosphatidylinositol-4
5-bisphosphate binding; plasma membrane; heart development; phosphatidylinositol-3
4
5-trisphosphate binding
Homolog in other species ADAP2
Immgen Expression
LOW(HIGH IN MYELOID GROUP, DC.LC.SK, TGD.SP )
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020709
Chromosome 11
Coordinate 80,154,300     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 15
Allele Frequency
G:R0.33
A:V0.67
Amino Acid Change G->R (Glycine -> Arginine)
Sample ID IGL02953
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0.65
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved