|Institutional Source||Beutler Lab|
|Gene Name||bone gamma-carboxyglutamate protein 2|
|Synonyms||mOC-B, OG2, bone Gla protein, osteocalcin|
|Is this an essential gene?||Possibly non essential (E-score: 0.343)|
|Stock #||R7331 (G1)|
|Chromosomal Location||88377736-88378699 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 88378260 bp|
|Amino Acid Change||Methionine to Lysine at position 35 (M35K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096555 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000098956]|
|Predicted Effect||possibly damaging
AA Change: M35K
PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: M35K
|Coding Region Coverage||
|Validation Efficiency||100% (48/48)|
FUNCTION: This gene encodes a preproprotein that is proteolytically processed to generate a mature protein product. This protein product is a hormone that is secreted by osteoblasts and may function in bone remodeling and energy metabolism. Homozygous knockout mice for this gene exhibit a gradual increase in bone size, density and strength, as well as elevated adiposity and impaired glucose tolerance. This gene is present in a gene cluster with other related genes on chromosome 3. [provided by RefSeq, Aug 2015]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bglap2||
(F):5'- GTGGCATTAATATACACGGGGTAC -3'
(R):5'- TTACAGATGCCAAGCCCAGC -3'
(F):5'- CACTGTACAAGAGGCTCCAGG -3'
(R):5'- CGGCCCTGAGTCTGACAAAG -3'