Apbb2 - SNV Details



 Gene Information 
Gene Name Apbb2
Old Gene Names for Apbb2 2310007d03rik , Rirl1 , Zfra
Gene Description amyloid beta (A4) precursor protein-binding, family B, member 2 [Source:MGI Symbol;Acc:MGI:108405]
MGI phenotype Mice homozygous for a knock-out allele are viable and fertile and display normal brain morphology.
Uniprot Name
CCDS Name
Gene GO
regulation of transcription
DNA-templated; cell cycle arrest; cytoplasm; positive regulation of apoptotic process; negative regulation of apoptotic process; protein binding; histone acetyltransferase binding; neuron migration; nucleus; protein stabilization; actin filament-based movement; negative regulation of cell growth; extracellular matrix organization; axon guidance; transcription factor binding
Homolog in other species APBB2
Omim http://omim.org/entry/602710
Immgen Expression
MEDIAN(HIGHER IN PROB.FRBC.FL, PREB.FRD.FL, T.DPSM.TH, TGD.TH)
Gnf Expression
MEDIAN/HIGH(LOWER IN PANCREAS, KIDNEY, LIVER, BROWNFAT, SPLEEN, IMM.G2, THYROID, GI GROUP)
LOW/MEDIAN
HIGH(LOWER IN TESTIS, FERTILIZEDEGG, OOCYTE, LIVER, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029207
Chromosome 5
Coordinate 66,400,231     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 24
Allele Frequency
A:R0.58
G:V0.42
Amino Acid Change W->R (Tryptophan -> Arginine)
Sample ID IGL03108
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 45 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved