Incidental Mutation 'R7845:Bglap2'
ID 606549
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 045899-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R7845 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 88285043-88286006 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) T to A at 88286001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076048] [ENSMUST00000098956]
AlphaFold P86547
Predicted Effect probably benign
Transcript: ENSMUST00000076048
SMART Domains Protein: ENSMUSP00000075425
Gene: ENSMUSG00000074483

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
GLA 31 91 5.22e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098956
SMART Domains Protein: ENSMUSP00000096555
Gene: ENSMUSG00000074486

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
GLA 31 91 5.22e-23 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (43/45)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,314,229 (GRCm39) H483R probably damaging Het
Acot2 G T 12: 84,039,762 (GRCm39) G424* probably null Het
Adat2 G T 10: 13,428,741 (GRCm39) probably benign Het
Arhgef18 T C 8: 3,436,959 (GRCm39) Y250H probably damaging Het
Bcl2l2 A G 14: 55,122,308 (GRCm39) Y157C unknown Het
Ccdc14 T C 16: 34,535,734 (GRCm39) L495P probably damaging Het
Cobl T C 11: 12,315,139 (GRCm39) D275G probably benign Het
Cpne2 A G 8: 95,277,832 (GRCm39) N72S probably benign Het
D7Ertd443e A G 7: 133,871,977 (GRCm39) F628S probably damaging Het
Dars2 A T 1: 160,869,318 (GRCm39) S644T probably benign Het
Depdc5 A G 5: 33,061,259 (GRCm39) probably null Het
Dip2c A G 13: 9,659,080 (GRCm39) S860G probably damaging Het
Dnajc21 T G 15: 10,447,227 (GRCm39) H507P probably damaging Het
Eif2ak2 G T 17: 79,171,327 (GRCm39) Q359K probably damaging Het
Epha8 T C 4: 136,663,712 (GRCm39) E448G probably benign Het
Exoc3l G C 8: 106,016,782 (GRCm39) S677R probably damaging Het
Fads1 T A 19: 10,171,405 (GRCm39) H345Q probably damaging Het
Fam118a T A 15: 84,930,052 (GRCm39) D93E possibly damaging Het
Fam135a T C 1: 24,068,738 (GRCm39) I710M probably benign Het
Fbxw14 T A 9: 109,116,671 (GRCm39) I13F probably damaging Het
Gemin6 A G 17: 80,533,090 (GRCm39) S8G probably benign Het
Ints2 A T 11: 86,129,089 (GRCm39) M498K possibly damaging Het
Man2a2 G C 7: 80,018,613 (GRCm39) A82G probably benign Het
Mast1 C A 8: 85,651,954 (GRCm39) E343* probably null Het
Micu1 T C 10: 59,675,607 (GRCm39) probably null Het
Mis18bp1 A G 12: 65,196,102 (GRCm39) I554T probably benign Het
Mrps28 T A 3: 8,988,775 (GRCm39) N28Y possibly damaging Het
Mtpap T A 18: 4,387,134 (GRCm39) S395T possibly damaging Het
Muc16 A T 9: 18,552,069 (GRCm39) H4741Q probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or13p8 T C 4: 118,584,158 (GRCm39) M238T probably benign Het
Or4k44 C A 2: 111,368,512 (GRCm39) G41* probably null Het
Or51f23 G A 7: 102,453,492 (GRCm39) R269Q not run Het
Ptx4 T C 17: 25,343,928 (GRCm39) Y393H possibly damaging Het
Ranbp2 G A 10: 58,282,844 (GRCm39) V15M probably damaging Het
Rbp3 G T 14: 33,678,421 (GRCm39) A790S probably benign Het
Rfx6 T A 10: 51,554,122 (GRCm39) S73T probably benign Het
Sec14l3 T A 11: 4,017,972 (GRCm39) M84K probably benign Het
Sec23b T A 2: 144,401,316 (GRCm39) V59E possibly damaging Het
Slc2a1 T C 4: 118,993,125 (GRCm39) V425A possibly damaging Het
Stab2 A T 10: 86,832,758 (GRCm39) V89D probably benign Het
Stra8 A G 6: 34,907,899 (GRCm39) D117G probably benign Het
Syt17 A T 7: 118,009,194 (GRCm39) I338N possibly damaging Het
Tas2r136 T A 6: 132,754,833 (GRCm39) Y98F probably benign Het
Tsks C A 7: 44,603,168 (GRCm39) probably null Het
Wdr62 A G 7: 29,964,667 (GRCm39) V359A possibly damaging Het
Xrcc6 T C 15: 81,900,678 (GRCm39) probably null 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
R0694:Bglap2 UTSW 3 88,285,723 (GRCm39) missense possibly damaging 0.64
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
R8802:Bglap2 UTSW 3 88,285,568 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTGCCATCCCAAAGCAGATTG -3'
(R):5'- GTTCTTGTCTCTAGGGCGAC -3'

Sequencing Primer
(F):5'- CAAAGCAGATTGTGAGACCTTC -3'
(R):5'- CCTGGCAGTCTCCGATTGTG -3'
Posted On 2019-12-20