Incidental Mutation 'R0694:Bglap2'
ID 63423
Institutional Source Beutler Lab
Gene Symbol Bglap2
Ensembl Gene ENSMUSG00000074486
Gene Name bone gamma-carboxyglutamate protein 2
Synonyms bone Gla protein, osteocalcin, mOC-B, OG2
MMRRC Submission 038879-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R0694 (G1)
Quality Score 82
Status Not validated
Chromosome 3
Chromosomal Location 88285043-88286006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88285723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 31 (D31N)
Ref Sequence ENSEMBL: ENSMUSP00000096555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098956]
AlphaFold P86547
Predicted Effect possibly damaging
Transcript: ENSMUST00000098956
AA Change: D31N

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000096555
Gene: ENSMUSG00000074486
AA Change: D31N

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
GLA 31 91 5.22e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107540
SMART Domains Protein: ENSMUSP00000103164
Gene: ENSMUSG00000078691

DomainStartEndE-ValueType
Pfam:HlyIII 5 127 3.4e-21 PFAM
transmembrane domain 148 170 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179946
SMART Domains Protein: ENSMUSP00000135989
Gene: ENSMUSG00000096792

DomainStartEndE-ValueType
Pfam:HlyIII 4 102 1.7e-16 PFAM
transmembrane domain 121 143 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 91.7%
Validation Efficiency
MGI Phenotype 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
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid4b C T 13: 14,362,419 (GRCm39) T961I probably damaging Het
Asb13 G T 13: 3,699,480 (GRCm39) A227S probably benign Het
Atp6v1g1 C T 4: 63,468,230 (GRCm39) R78W probably benign Het
Dsn1 T C 2: 156,847,789 (GRCm39) T2A possibly damaging Het
Fbxo22 T A 9: 55,128,423 (GRCm39) I248N probably damaging Het
Fbxo39 G A 11: 72,209,295 (GRCm39) R385Q probably benign Het
Glyr1 T C 16: 4,844,424 (GRCm39) N284S probably damaging Het
Hus1 C T 11: 8,957,531 (GRCm39) W144* probably null Het
Kcna1 T C 6: 126,619,208 (GRCm39) T371A probably damaging Het
Prkdc A T 16: 15,586,501 (GRCm39) N2510I probably damaging Het
Ptprn2 G T 12: 116,787,975 (GRCm39) A105S possibly damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Sema6d T C 2: 124,505,961 (GRCm39) S633P probably damaging Het
Sulf2 T C 2: 165,927,711 (GRCm39) N362S probably damaging Het
Tlcd5 C T 9: 43,022,921 (GRCm39) W126* probably null Het
Trim50 A T 5: 135,382,399 (GRCm39) I84L probably benign Het
Trpc3 A T 3: 36,725,704 (GRCm39) F91I possibly damaging Het
Zfp804a A G 2: 81,884,148 (GRCm39) Y5C probably damaging Het
Other mutations in Bglap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02494:Bglap2 APN 3 88,285,243 (GRCm39) nonsense probably null
IGL02739:Bglap2 APN 3 88,285,319 (GRCm39) splice site probably null
R0402:Bglap2 UTSW 3 88,285,552 (GRCm39) missense probably damaging 1.00
R1846:Bglap2 UTSW 3 88,285,932 (GRCm39) unclassified probably benign
R5114:Bglap2 UTSW 3 88,289,432 (GRCm39) unclassified probably benign
R7331:Bglap2 UTSW 3 88,285,567 (GRCm39) missense possibly damaging 0.94
R7677:Bglap2 UTSW 3 88,285,280 (GRCm39) missense probably damaging 1.00
R7696:Bglap2 UTSW 3 88,285,923 (GRCm39) missense unknown
R7845:Bglap2 UTSW 3 88,286,001 (GRCm39) start gained probably benign
R8802:Bglap2 UTSW 3 88,285,568 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTGCCCTCCTGCTTGGACATGAAG -3'
(R):5'- TCCTCCTGCTTACATCAGAGAGCAC -3'

Sequencing Primer
(F):5'- GCTTGGACATGAAGGCTGTG -3'
(R):5'- GCCGATATAAATGCTACTGGATGC -3'
Posted On 2013-07-30