Abi2 - SNV Details



 Gene Information 
Gene Name Abi2
Old Gene Names for Abi2 8430425m24rik , Ai839867
Gene Description abl-interactor 2 [Source:MGI Symbol;Acc:MGI:106913]
MGI phenotype Homozygous null mice display microphthalmia, abnormal lens development, abnormal corpus callosum, cerebral cortex, and hippocampus morphology, and impaired contextual conditioning.
Uniprot Name
CCDS Name
Gene GO
proline-rich region binding; cytoplasm; SH3 domain binding; peptidyl-tyrosine phosphorylation; ubiquitin protein ligase binding; dendrite development; cell-cell adherens junction; protein binding; cell migration; cytosol; cytoskeleton; lamellipodium; learning or memory; filopodium; dendrite; camera-type eye development; cellular component movement
Homolog in other species ABI2
Immgen Expression
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
Gnf Expression
HIGH(HIGHER IN IMM GROUP, NS GROUPS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026782
Chromosome 1
Coordinate 60,447,307     (Assembly: GRCm38)    
Ref Base T
Codon Change gTa/gCa
Var Base C
Zygosity Heterozygous
Read Depth 47
Allele Frequency
T:R0.51
C:V0.49
Amino Acid Position 203
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02074
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.1
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved