Appbp2 - SNV Details



 Gene Information 
Gene Name Appbp2
Old Gene Names for Appbp2 1300003o07rik , Ai465480
Gene Description amyloid beta precursor protein (cytoplasmic tail) binding protein 2 [Source:MGI Symbol;Acc:MGI:1914134]
Uniprot Name
CCDS Name
Gene GO
cytoplasmic vesicle membrane; protein transport; microtubule; protein binding; intracellular transport; nucleus
Homolog in other species APPBP2
Omim http://omim.org/entry/605324
Immgen Expression
MEDIAN
HIGH
Gnf Expression
MEDIAN(HIGH IN EMB GROUP, PLACENTA)
MEDIAN/HIGH(LOWER IN TESTIS, FERTILIZEDEGG, OOCYTE, KIDNEY, LIVER, SPLEEN, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000018481
Chromosome 11
Coordinate 85,214,317     (Assembly: GRCm38)    
Ref Base T
Codon Change aAg/aGg
Var Base C
Zygosity Heterozygous
Read Depth 29
Allele Frequency
T:R0.41
C:V0.59
Amino Acid Position 141
Amino Acid Change K->R (Lysine -> Arginine)
Sample ID IGL01736
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 0.86
Polyphen Prediction Possibly damaging
Sift Score 0.29
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved