Incidental Mutation 'R2216:Gpbar1'
ID 241130
Institutional Source Beutler Lab
Gene Symbol Gpbar1
Ensembl Gene ENSMUSG00000064272
Gene Name G protein-coupled bile acid receptor 1
Synonyms BG37, GPR131, TGR5, M-BAR
MMRRC Submission 040218-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2216 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 74278550-74279624 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to G at 74278894 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 99 (L99V)
Ref Sequence ENSEMBL: ENSMUSP00000077135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006462] [ENSMUST00000077985] [ENSMUST00000178235] [ENSMUST00000187046] [ENSMUST00000190008]
AlphaFold Q80SS6
Predicted Effect probably benign
Transcript: ENSMUST00000006462
SMART Domains Protein: ENSMUSP00000006462
Gene: ENSMUSG00000006299

low complexity region 34 42 N/A INTRINSIC
low complexity region 46 64 N/A INTRINSIC
WD40 81 121 2.76e-2 SMART
WD40 124 163 4.83e-7 SMART
WD40 166 203 7.96e0 SMART
WD40 205 244 2.51e-5 SMART
WD40 247 289 2.38e-6 SMART
WD40 292 346 2.47e1 SMART
WD40 349 387 2.61e-3 SMART
WD40 390 429 1.75e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000077985
AA Change: L99V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077135
Gene: ENSMUSG00000064272
AA Change: L99V

Pfam:7tm_1 30 264 7.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178235
SMART Domains Protein: ENSMUSP00000136644
Gene: ENSMUSG00000006299

low complexity region 33 45 N/A INTRINSIC
low complexity region 47 65 N/A INTRINSIC
WD40 82 122 2.76e-2 SMART
WD40 125 164 4.83e-7 SMART
WD40 167 204 7.96e0 SMART
WD40 206 245 2.51e-5 SMART
WD40 248 290 2.38e-6 SMART
WD40 293 347 2.47e1 SMART
WD40 350 388 2.61e-3 SMART
WD40 391 430 1.75e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186833
Predicted Effect probably benign
Transcript: ENSMUST00000187046
SMART Domains Protein: ENSMUSP00000139411
Gene: ENSMUSG00000006299

WD40 20 60 1.7e-4 SMART
WD40 63 102 3e-9 SMART
WD40 120 160 1.7e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187908
Predicted Effect probably benign
Transcript: ENSMUST00000190008
SMART Domains Protein: ENSMUSP00000140427
Gene: ENSMUSG00000006299

low complexity region 17 34 N/A INTRINSIC
low complexity region 40 58 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191258
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G protein-coupled receptor (GPCR) superfamily. This enzyme functions as a cell surface receptor for bile acids. Treatment of cells expressing this GPCR with bile acids induces the production of intracellular cAMP, activation of a MAP kinase signaling pathway, and internalization of the receptor. The receptor is implicated in the suppression of macrophage functions and regulation of energy homeostasis by bile acids. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in abnormal cholesterol, bile, and insulin homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aipl1 G T 11: 72,031,446 (GRCm38) P146T probably damaging Het
Arnt2 T A 7: 84,275,351 (GRCm38) T423S probably damaging Het
Bend5 A G 4: 111,448,590 (GRCm38) N277S probably null Het
Cd22 G T 7: 30,867,046 (GRCm38) T816N probably damaging Het
Cep126 G A 9: 8,120,678 (GRCm38) R115C probably damaging Het
Cep85 T C 4: 134,131,430 (GRCm38) H710R possibly damaging Het
Cmya5 A T 13: 93,093,495 (GRCm38) L1695H probably damaging Het
Col24a1 T C 3: 145,314,981 (GRCm38) V371A probably benign Het
Csmd1 T A 8: 17,027,339 (GRCm38) probably null Het
Cyp1a1 T A 9: 57,702,069 (GRCm38) probably null Het
Dennd1c C T 17: 57,074,492 (GRCm38) probably null Het
Dmxl1 G A 18: 49,893,923 (GRCm38) V2033I probably benign Het
Dtna A G 18: 23,569,565 (GRCm38) H51R probably damaging Het
Dysf G A 6: 84,207,245 (GRCm38) probably null Het
Gcn1l1 T A 5: 115,593,661 (GRCm38) V945E probably benign Het
Gm12800 T A 4: 101,910,060 (GRCm38) W169R probably damaging Het
Hdac9 A T 12: 34,429,517 (GRCm38) D212E probably damaging Het
Itga1 A T 13: 114,997,029 (GRCm38) D448E probably benign Het
Itga2b T A 11: 102,467,866 (GRCm38) N75I probably benign Het
Klra7 T C 6: 130,228,586 (GRCm38) E117G probably benign Het
Kmt2b G A 7: 30,574,065 (GRCm38) R2349C probably benign Het
Masp1 T C 16: 23,492,055 (GRCm38) N209S probably benign Het
Mybpc2 C T 7: 44,512,500 (GRCm38) probably null Het
Myh15 C G 16: 49,165,838 (GRCm38) S1557* probably null Het
Myo3a A C 2: 22,577,771 (GRCm38) T346P probably benign Het
Nim1k A G 13: 119,714,215 (GRCm38) Y152H probably damaging Het
Nrp2 C T 1: 62,762,918 (GRCm38) R507* probably null Het
Olfr513 C T 7: 108,755,612 (GRCm38) T252M probably damaging Het
Olfr702 T A 7: 106,823,998 (GRCm38) H176L probably damaging Het
Parp14 T C 16: 35,857,205 (GRCm38) I798V probably benign Het
Pcnx2 C T 8: 125,888,077 (GRCm38) A212T probably benign Het
Pkhd1l1 A T 15: 44,573,895 (GRCm38) H3522L probably damaging Het
Pram1 C T 17: 33,641,284 (GRCm38) A275V probably benign Het
Prkag1 A T 15: 98,815,946 (GRCm38) M1K probably null Het
Prss52 T C 14: 64,113,593 (GRCm38) S276P probably damaging Het
Ranbp17 A T 11: 33,481,125 (GRCm38) V284D probably damaging Het
Reln T C 5: 22,048,005 (GRCm38) D648G probably benign Het
Rnf112 A G 11: 61,452,279 (GRCm38) L190P probably damaging Het
Scn5a G T 9: 119,485,612 (GRCm38) P2010Q probably benign Het
Scn5a T C 9: 119,513,085 (GRCm38) Y1138C probably benign Het
Slc4a9 A G 18: 36,530,745 (GRCm38) H274R probably benign Het
Slc5a6 T G 5: 31,039,335 (GRCm38) E391D possibly damaging Het
Speer2 T C 16: 69,858,842 (GRCm38) Q32R possibly damaging Het
Tars A G 15: 11,389,708 (GRCm38) V372A probably benign Het
Thsd7a A T 6: 12,337,268 (GRCm38) L1250Q possibly damaging Het
Tnnt3 A G 7: 142,512,564 (GRCm38) Y222C probably benign Het
Trim40 T C 17: 36,888,983 (GRCm38) I68V probably benign Het
Trp53tg5 T C 2: 164,471,306 (GRCm38) I150V probably benign Het
Ube2u T C 4: 100,532,168 (GRCm38) V109A probably benign Het
Usp54 A T 14: 20,561,840 (GRCm38) D969E probably benign Het
Vil1 G T 1: 74,425,679 (GRCm38) R495L probably benign Het
Wfs1 T A 5: 36,967,220 (GRCm38) K700* probably null Het
Zcchc8 A G 5: 123,707,403 (GRCm38) L298P probably damaging Het
Zfp946 A T 17: 22,454,716 (GRCm38) Q150H possibly damaging Het
Other mutations in Gpbar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0496:Gpbar1 UTSW 1 74,278,981 (GRCm38) missense probably benign
R0502:Gpbar1 UTSW 1 74,279,392 (GRCm38) missense probably benign 0.00
R0944:Gpbar1 UTSW 1 74,279,522 (GRCm38) missense probably benign
R1993:Gpbar1 UTSW 1 74,279,444 (GRCm38) missense possibly damaging 0.92
R1995:Gpbar1 UTSW 1 74,279,444 (GRCm38) missense possibly damaging 0.92
R2258:Gpbar1 UTSW 1 74,279,005 (GRCm38) missense probably benign
R4871:Gpbar1 UTSW 1 74,279,543 (GRCm38) missense probably damaging 0.96
R4973:Gpbar1 UTSW 1 74,279,545 (GRCm38) unclassified probably benign
R4974:Gpbar1 UTSW 1 74,279,545 (GRCm38) unclassified probably benign
R4975:Gpbar1 UTSW 1 74,279,545 (GRCm38) unclassified probably benign
R4979:Gpbar1 UTSW 1 74,279,245 (GRCm38) missense probably benign 0.01
R5728:Gpbar1 UTSW 1 74,279,057 (GRCm38) missense probably damaging 1.00
R5730:Gpbar1 UTSW 1 74,279,036 (GRCm38) missense probably damaging 1.00
R7180:Gpbar1 UTSW 1 74,278,633 (GRCm38) missense possibly damaging 0.64
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-10-15