Incidental Mutation 'IGL02739:Bglap2'
ID 305827
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bglap2
Ensembl Gene ENSMUSG00000074486
Gene Name bone gamma-carboxyglutamate protein 2
Synonyms mOC-B, OG2, bone Gla protein, osteocalcin
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.394) question?
Stock # IGL02739
Quality Score
Status
Chromosome 3
Chromosomal Location 88377736-88378699 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 88378012 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098956]
AlphaFold P86547
Predicted Effect probably null
Transcript: ENSMUST00000098956
SMART Domains Protein: ENSMUSP00000096555
Gene: ENSMUSG00000074486

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 76,878,517 (GRCm38) C887S possibly damaging Het
Adamdec1 C A 14: 68,570,156 (GRCm38) E352* probably null Het
Bsn A T 9: 108,112,546 (GRCm38) H2002Q probably benign Het
Chtop T A 3: 90,502,250 (GRCm38) Q165L possibly damaging Het
Clcn1 A T 6: 42,286,780 (GRCm38) probably null Het
Ctsr T C 13: 61,161,844 (GRCm38) T184A probably benign Het
Defb36 T C 2: 152,604,519 (GRCm38) L11P unknown Het
Dock8 A G 19: 25,188,488 (GRCm38) E1912G probably damaging Het
Dpp3 A G 19: 4,923,728 (GRCm38) Y106H probably damaging Het
Epas1 A G 17: 86,805,282 (GRCm38) T103A probably damaging Het
Epcam A T 17: 87,640,494 (GRCm38) T131S probably benign Het
Fam169a A G 13: 97,094,055 (GRCm38) probably benign Het
Gh T A 11: 106,301,733 (GRCm38) probably benign Het
Kif20a A T 18: 34,628,943 (GRCm38) K399* probably null Het
Lrp1b A G 2: 41,498,215 (GRCm38) I466T probably damaging Het
Nlk A G 11: 78,574,851 (GRCm38) V409A probably benign Het
Nomo1 A G 7: 46,044,307 (GRCm38) probably null Het
Nr2c1 T A 10: 94,156,972 (GRCm38) M16K probably damaging Het
Nxph2 A T 2: 23,399,900 (GRCm38) Q88L probably benign Het
Olfr33 A G 7: 102,714,314 (GRCm38) I33T possibly damaging Het
Pkdrej T A 15: 85,819,694 (GRCm38) R680S probably benign Het
Pkhd1l1 A T 15: 44,540,950 (GRCm38) N2325I probably benign Het
Pnliprp2 T C 19: 58,760,509 (GRCm38) probably null Het
Ppp1r42 T A 1: 9,968,853 (GRCm38) K347N probably benign Het
Prtg T C 9: 72,851,585 (GRCm38) V407A possibly damaging Het
Psmb8 C A 17: 34,200,754 (GRCm38) S194* probably null Het
Rnf214 T C 9: 45,869,474 (GRCm38) I406V probably benign Het
Rreb1 C T 13: 37,893,821 (GRCm38) S3L probably damaging Het
Sdad1 C T 5: 92,290,072 (GRCm38) A539T probably benign Het
Sema3a A G 5: 13,451,161 (GRCm38) Y57C probably damaging Het
Susd5 A G 9: 114,096,033 (GRCm38) E328G possibly damaging Het
Syngr3 T C 17: 24,686,398 (GRCm38) T175A probably damaging Het
Tcf20 T A 15: 82,856,080 (GRCm38) Q390L probably damaging Het
Tex15 A G 8: 33,581,693 (GRCm38) T2423A possibly damaging Het
Tlr1 T C 5: 64,927,126 (GRCm38) N36S probably benign Het
Uchl4 C T 9: 64,235,537 (GRCm38) T100M probably damaging Het
Uhrf1 A G 17: 56,305,129 (GRCm38) K11R probably benign Het
Vps13b T A 15: 35,879,900 (GRCm38) D3040E probably damaging Het
Wdr62 A T 7: 30,242,460 (GRCm38) Y640* probably null Het
Zkscan17 T G 11: 59,503,526 (GRCm38) E83A probably damaging Het
Other mutations in Bglap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02494:Bglap2 APN 3 88,377,936 (GRCm38) nonsense probably null
R0402:Bglap2 UTSW 3 88,378,245 (GRCm38) missense probably damaging 1.00
R0694:Bglap2 UTSW 3 88,378,416 (GRCm38) missense possibly damaging 0.64
R1846:Bglap2 UTSW 3 88,378,625 (GRCm38) unclassified probably benign
R5114:Bglap2 UTSW 3 88,382,125 (GRCm38) unclassified probably benign
R7331:Bglap2 UTSW 3 88,378,260 (GRCm38) missense possibly damaging 0.94
R7677:Bglap2 UTSW 3 88,377,973 (GRCm38) missense probably damaging 1.00
R7696:Bglap2 UTSW 3 88,378,616 (GRCm38) missense unknown
R7845:Bglap2 UTSW 3 88,378,694 (GRCm38) start gained probably benign
R8802:Bglap2 UTSW 3 88,378,261 (GRCm38) missense probably benign 0.01
Posted On 2015-04-16