Incidental Mutation 'R0944:Gpbar1'
ID 81988
Institutional Source Beutler Lab
Gene Symbol Gpbar1
Ensembl Gene ENSMUSG00000064272
Gene Name G protein-coupled bile acid receptor 1
Synonyms TGR5, GPR131, BG37, M-BAR
MMRRC Submission 039083-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0944 (G1)
Quality Score 207
Status Validated
Chromosome 1
Chromosomal Location 74317709-74318783 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74318681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 308 (D308G)
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000077985
AA Change: D308G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077135
Gene: ENSMUSG00000064272
AA Change: D308G

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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 17 34 N/A INTRINSIC
low complexity region 40 58 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191258
Meta Mutation Damage Score 0.0597 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.3%
  • 20x: 94.3%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110018I06Rik G A 12: 107,455,268 (GRCm39) R118K unknown Het
Abcc6 T A 7: 45,664,929 (GRCm39) I301F possibly damaging Het
Akap9 C A 5: 4,114,742 (GRCm39) probably null Het
Alg6 A G 4: 99,650,297 (GRCm39) I506V probably benign Het
B3gat1 C T 9: 26,668,237 (GRCm39) R276C probably damaging Het
Camk1 A G 6: 113,315,352 (GRCm39) Y105H probably damaging Het
Ccdc81 T C 7: 89,515,777 (GRCm39) N634S probably damaging Het
Clcn1 C A 6: 42,290,075 (GRCm39) Q837K probably benign Het
Clec16a A G 16: 10,506,510 (GRCm39) probably benign Het
Col22a1 T C 15: 71,753,511 (GRCm39) I130V probably benign Het
Coro2b T C 9: 62,335,263 (GRCm39) S308G probably benign Het
Cpxm1 A G 2: 130,239,423 (GRCm39) W2R probably damaging Het
Csmd3 T C 15: 47,475,227 (GRCm39) N3364S probably damaging Het
Dgkq A G 5: 108,804,331 (GRCm39) V131A probably damaging Het
Dnai1 A G 4: 41,629,997 (GRCm39) S469G probably benign Het
Efcab3 T G 11: 104,601,556 (GRCm39) probably null Het
Eml4 G A 17: 83,785,489 (GRCm39) E885K probably benign Het
Etfa A T 9: 55,396,122 (GRCm39) I148N probably damaging Het
Gprin3 T C 6: 59,330,900 (GRCm39) E469G possibly damaging Het
Igkv1-115 T C 6: 68,138,667 (GRCm39) V90A probably damaging Het
Ints2 A G 11: 86,135,289 (GRCm39) V375A possibly damaging Het
Mindy3 T C 2: 12,400,993 (GRCm39) M242V possibly damaging Het
Or11m3 A G 15: 98,395,565 (GRCm39) I71V probably benign Het
Or1n1b T C 2: 36,780,698 (GRCm39) H54R probably damaging Het
Or5t9 A C 2: 86,659,281 (GRCm39) I62L probably benign Het
P3h1 G A 4: 119,095,956 (GRCm39) E355K probably benign Het
Paxbp1 T C 16: 90,820,315 (GRCm39) T703A probably benign Het
Pcdh15 A T 10: 74,046,302 (GRCm39) Y193F probably damaging Het
Pdxdc1 A G 16: 13,656,233 (GRCm39) V613A probably damaging Het
Plekha5 T C 6: 140,515,922 (GRCm39) probably benign Het
Pmel A T 10: 128,551,126 (GRCm39) Q123L possibly damaging Het
Prl6a1 T C 13: 27,502,149 (GRCm39) probably benign Het
Rcan1 T C 16: 92,190,379 (GRCm39) T187A probably damaging Het
Rp1l1 A G 14: 64,269,681 (GRCm39) S1756G probably benign Het
Runx2 A T 17: 44,919,123 (GRCm39) M405K probably damaging Het
Serinc5 T C 13: 92,797,613 (GRCm39) Y39H probably damaging Het
Sgsm1 G A 5: 113,413,740 (GRCm39) T676I probably benign Het
Slc6a15 G C 10: 103,245,657 (GRCm39) V547L probably benign Het
Slk T C 19: 47,597,432 (GRCm39) I80T probably damaging Het
Spice1 A G 16: 44,205,124 (GRCm39) N810S probably benign Het
Spred2 A G 11: 19,951,104 (GRCm39) probably benign Het
Tbc1d4 C G 14: 101,716,656 (GRCm39) probably benign Het
Tdrd7 G A 4: 46,029,762 (GRCm39) V1032M probably benign Het
Tlr11 A G 14: 50,599,793 (GRCm39) N593S probably benign Het
Trpa1 T C 1: 14,982,585 (GRCm39) probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp25 T C 16: 76,878,335 (GRCm39) probably benign Het
Vmn2r97 T A 17: 19,167,665 (GRCm39) S640T probably benign Het
Zc3h6 A G 2: 128,848,736 (GRCm39) Y321C probably damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Other mutations in Gpbar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0496:Gpbar1 UTSW 1 74,318,140 (GRCm39) missense probably benign
R0502:Gpbar1 UTSW 1 74,318,551 (GRCm39) missense probably benign 0.00
R1993:Gpbar1 UTSW 1 74,318,603 (GRCm39) missense possibly damaging 0.92
R1995:Gpbar1 UTSW 1 74,318,603 (GRCm39) missense possibly damaging 0.92
R2216:Gpbar1 UTSW 1 74,318,053 (GRCm39) missense probably damaging 1.00
R2258:Gpbar1 UTSW 1 74,318,164 (GRCm39) missense probably benign
R4871:Gpbar1 UTSW 1 74,318,702 (GRCm39) missense probably damaging 0.96
R4973:Gpbar1 UTSW 1 74,318,704 (GRCm39) unclassified probably benign
R4974:Gpbar1 UTSW 1 74,318,704 (GRCm39) unclassified probably benign
R4975:Gpbar1 UTSW 1 74,318,704 (GRCm39) unclassified probably benign
R4979:Gpbar1 UTSW 1 74,318,404 (GRCm39) missense probably benign 0.01
R5728:Gpbar1 UTSW 1 74,318,216 (GRCm39) missense probably damaging 1.00
R5730:Gpbar1 UTSW 1 74,318,195 (GRCm39) missense probably damaging 1.00
R7180:Gpbar1 UTSW 1 74,317,792 (GRCm39) missense possibly damaging 0.64
Predicted Primers PCR Primer
(F):5'- GCCTGGAACTCTGTTATCGCTCATC -3'
(R):5'- ACTTCCCATTGGCAGTGTCTGTG -3'

Sequencing Primer
(F):5'- ATCTCATTGGGCAGCACC -3'
(R):5'- TATGGAAGGAATAATCTGCCCTG -3'
Posted On 2013-11-08