Incidental Mutation 'R8802:Bglap2'
ID 671541
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 068639-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R8802 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 88285043-88286006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88285568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 35 (M35L)
Ref Sequence ENSEMBL: ENSMUSP00000096555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098956]
AlphaFold P86547
Predicted Effect probably benign
Transcript: ENSMUST00000098956
AA Change: M35L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000096555
Gene: ENSMUSG00000074486
AA Change: M35L

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
GLA 31 91 5.22e-23 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (59/59)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik A G 7: 12,249,415 (GRCm39) T83A possibly damaging Het
Abcc6 A G 7: 45,658,283 (GRCm39) L451P probably damaging Het
Ak5 T C 3: 152,321,631 (GRCm39) E252G probably damaging Het
Atg4a-ps T A 3: 103,552,686 (GRCm39) K218N probably damaging Het
Bicral A G 17: 47,135,626 (GRCm39) M528T probably benign Het
Cdh23 A G 10: 60,244,877 (GRCm39) V1008A probably benign Het
Chil6 A T 3: 106,312,208 (GRCm39) L31Q probably damaging Het
Ctnnd2 T C 15: 30,967,022 (GRCm39) V991A probably damaging Het
Dcc T C 18: 71,959,125 (GRCm39) N216D probably damaging Het
Dcdc2c T A 12: 28,576,720 (GRCm39) D106V probably benign Het
Dchs2 T C 3: 83,253,544 (GRCm39) I2318T probably benign Het
Fat2 A G 11: 55,173,750 (GRCm39) F2321S possibly damaging Het
Fbxw7 T C 3: 84,859,693 (GRCm39) V5A unknown Het
Fn3krp T C 11: 121,315,813 (GRCm39) V68A probably damaging Het
Gcn1 T C 5: 115,747,942 (GRCm39) L1783P probably damaging Het
Gdf6 C T 4: 9,844,769 (GRCm39) H98Y probably damaging Het
Gm13271 C A 4: 88,673,247 (GRCm39) P48Q probably damaging Het
Gm4871 A T 5: 144,966,876 (GRCm39) N202K probably benign Het
Gucy1a2 G A 9: 3,635,050 (GRCm39) V365I probably benign Het
Hadhb C T 5: 30,378,831 (GRCm39) Q157* probably null Het
Hivep2 C T 10: 14,015,166 (GRCm39) R1778C probably damaging Het
Hmcn2 T A 2: 31,301,288 (GRCm39) V2845E probably damaging Het
Hps3 T A 3: 20,074,070 (GRCm39) I431L probably damaging Het
Idh1 CA CAA 1: 65,204,347 (GRCm39) probably null Het
Igkv12-38 A T 6: 69,920,390 (GRCm39) C43S probably damaging Het
Jph2 T A 2: 163,239,184 (GRCm39) H88L probably damaging Het
Kmt2b G A 7: 30,283,496 (GRCm39) R955W probably damaging Het
Lrrc4c A G 2: 97,460,603 (GRCm39) T410A possibly damaging Het
Ltf C T 9: 110,850,018 (GRCm39) P14S probably benign Het
Mapk8ip3 G A 17: 25,124,206 (GRCm39) R521C probably damaging Het
Nampt C A 12: 32,900,435 (GRCm39) T460K probably benign Het
Nek9 T C 12: 85,374,192 (GRCm39) I282V probably benign Het
Ninl A T 2: 150,777,172 (GRCm39) V1394E probably damaging Het
Obox6 G A 7: 15,567,772 (GRCm39) S225L probably damaging Het
Or6k4 A G 1: 173,964,616 (GRCm39) Y102C probably damaging Het
Pcdha4 A G 18: 37,087,211 (GRCm39) K465E possibly damaging Het
Pex11g T C 8: 3,507,308 (GRCm39) K151R unknown Het
Pld2 T C 11: 70,446,824 (GRCm39) L811P probably damaging Het
Pum2 C T 12: 8,778,726 (GRCm39) R459* probably null Het
Ralgapa1 T C 12: 55,785,101 (GRCm39) S720G probably damaging Het
Rbbp6 T A 7: 122,587,680 (GRCm39) probably benign Het
Rbl1 A G 2: 157,038,073 (GRCm39) probably null Het
Reln G T 5: 22,130,257 (GRCm39) R2685S probably damaging Het
Rnf213 T C 11: 119,352,928 (GRCm39) F3942L Het
Rpusd2 T C 2: 118,865,378 (GRCm39) V25A probably benign Het
Rusc1 T A 3: 88,999,540 (GRCm39) I81L probably benign Het
Serpinb9b A G 13: 33,213,587 (GRCm39) E48G probably benign Het
Skil C T 3: 31,167,592 (GRCm39) P408L probably damaging Het
Slc17a4 A G 13: 24,089,274 (GRCm39) W186R probably damaging Het
Syvn1 T C 19: 6,097,968 (GRCm39) F2S probably benign Het
Tmc6 T C 11: 117,665,901 (GRCm39) M338V possibly damaging Het
Tnfrsf17 A T 16: 11,137,819 (GRCm39) R185S possibly damaging Het
Utp20 T C 10: 88,583,157 (GRCm39) K2732R probably damaging Het
Vmn1r58 A T 7: 5,414,080 (GRCm39) V50E probably damaging Het
Vmn2r114 T A 17: 23,528,836 (GRCm39) D422V possibly damaging Het
Vmn2r83 A T 10: 79,314,261 (GRCm39) I170F probably benign Het
Xdh C T 17: 74,225,405 (GRCm39) V466I probably benign Het
Xndc1 A G 7: 101,720,539 (GRCm39) I6V possibly damaging Het
Zbtb38 T C 9: 96,567,623 (GRCm39) T1154A probably benign Het
Zfp160 T A 17: 21,246,867 (GRCm39) H472Q probably damaging Het
Zfp438 T A 18: 5,213,417 (GRCm39) T514S possibly 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
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
R7845:Bglap2 UTSW 3 88,286,001 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GGCATTAATATACACGGGGTACAC -3'
(R):5'- GCTTTACAGATGCCAAGCCC -3'

Sequencing Primer
(F):5'- CACTGTACAAGAGGCTCCAGG -3'
(R):5'- AGATGCCAAGCCCAGCGG -3'
Posted On 2021-04-30