Bglap2 - SNV Details



 Gene Information 
Gene Name Bglap2
Gene Description bone gamma-carboxyglutamate protein 2 [Source:MGI Symbol;Acc:MGI:88157]
MGI phenotype Mice homozygous for a knock-out allele of both Bglap1 and Bglap2 exhibit decreased circulating insulin, impaired glucose tolerance, increased adipose tissue, increased bone density, and decreased male fertility.
Uniprot Name
CCDS Name
Gene GO
type B pancreatic cell proliferation; pancreas development; biomineral tissue development; regulation of bone mineralization; positive regulation of insulin secretion; extracellular region; hydroxyapatite binding; cellular lipid catabolic process; calcium ion binding; glucose homeostasis; extracellular space; cellular response to insulin stimulus
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000074486
Chromosome 3
Coordinate 88,377,936     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 18
Allele Frequency
A:R0.61
T:V0.39
Amino Acid Change C->Stop (Cysteine -> Stop)
Sample ID IGL02494
Median Base Quality 37.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 45 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Availability Details 
Availability Progeny Cryopreserved