Abr - SNV Details



 Gene Information 
Gene Name Abr
Old Gene Names for Abr Au042359 , 6330400k15rik
Gene Description active BCR-related gene [Source:MGI Symbol;Acc:MGI:107771]
MGI phenotype Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects.
Uniprot Name
CCDS Name
Gene GO
negative regulation of cell migration; response to lipopolysaccharide; intracellular signal transduction; actin cytoskeleton organization; negative regulation of inflammatory response; signal transduction; positive regulation of GTPase activity; intracellular; Rho guanyl-nucleotide exchange factor activity; protein binding; neuromuscular process controlling balance; GTPase activator activity; inner ear morphogenesis; cytosol; Rac GTPase activator activity; regulation of Rho protein signal transduction; plasma membrane; positive regulation of Rac GTPase activity; negative regulation of neutrophil degranulation; phospholipid binding; positive regulation of phagocytosis; brain development
Homolog in other species ABR
Omim http://omim.org/entry/600365
Immgen Expression
MEDIAN(HIGHER IN MYELOID GROUP, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN NS GROUP, IMM.G1, IMM.G3, OSTEO GROUP, EPITH GROUP, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000017631
Chromosome 11
Coordinate 76,479,164     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 27
Allele Frequency
T:R0.44
C:V0.56
Amino Acid Change K->R (Lysine -> Arginine)
Sample ID IGL02606
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved