Mutagenetix > Incidental Mutation

Incidental Mutation 'R4974:Gpbar1'

382448

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

042569-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4974 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

74317709-74318783 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

TACCAC to TAC at 74318704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140427 (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

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000077135
Gene: ENSMUSG00000064272

Domain	Start	End	E-Value	Type
Pfam:7tm_1	30	264	7.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178235

SMART Domains

Protein: ENSMUSP00000136644
Gene: ENSMUSG00000006299

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 98.4%
10x: 96.8%
20x: 94.2%

Validation Efficiency

97% (94/97)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	C	T	14: 55,797,574 (GRCm39)		probably benign	Het
Acsf2	A	C	11: 94,460,155 (GRCm39)	M399R	possibly damaging	Het
Adra2c	C	A	5: 35,438,268 (GRCm39)	R347S	probably benign	Het
Akap9	A	G	5: 4,011,466 (GRCm39)	K723R	possibly damaging	Het
Anxa9	A	C	3: 95,215,324 (GRCm39)		probably benign	Het
Aqr	T	C	2: 113,943,832 (GRCm39)	H1102R	probably damaging	Het
Armh3	A	T	19: 45,808,726 (GRCm39)	F655Y	probably damaging	Het
Arrdc2	A	G	8: 71,290,162 (GRCm39)	V173A	probably benign	Het
Aspm	T	C	1: 139,405,748 (GRCm39)	V1545A	probably benign	Het
Bbs5	C	T	2: 69,477,578 (GRCm39)		probably benign	Het
Bnip2	A	G	9: 69,910,716 (GRCm39)	T255A	possibly damaging	Het
Cacna1b	T	C	2: 24,538,535 (GRCm39)	T1531A	probably damaging	Het
Cast	T	C	13: 74,955,942 (GRCm39)	K9R	probably benign	Het
Cfap46	A	T	7: 139,187,104 (GRCm39)		probably null	Het
Cfap57	G	T	4: 118,450,251 (GRCm39)	L624M	probably damaging	Het
Cyp2c39	A	T	19: 39,552,323 (GRCm39)	M339L	probably benign	Het
Dcst1	T	A	3: 89,265,110 (GRCm39)	T247S	probably benign	Het
Dnajc18	T	A	18: 35,816,372 (GRCm39)	I189F	possibly damaging	Het
Eef2kmt	T	C	16: 5,066,876 (GRCm39)	T126A	probably benign	Het
Epha2	A	G	4: 141,049,016 (GRCm39)	E624G	probably damaging	Het
Erbb3	G	A	10: 128,408,317 (GRCm39)	H866Y	probably benign	Het
F13a1	C	T	13: 37,100,837 (GRCm39)		probably null	Het
Fgd3	T	A	13: 49,432,078 (GRCm39)	N392I	probably damaging	Het
Fgf7	A	T	2: 125,930,160 (GRCm39)	M98L	probably benign	Het
G2e3	T	A	12: 51,415,922 (GRCm39)	S553T	probably benign	Het
Glipr1	C	A	10: 111,829,411 (GRCm39)	E117*	probably null	Het
Gm11060	A	T	2: 104,924,128 (GRCm39)		probably benign	Het
Gm4787	A	G	12: 81,424,403 (GRCm39)	I585T	probably damaging	Het
Gm6055	A	T	14: 48,316,915 (GRCm39)		noncoding transcript	Het
Gpt2	T	A	8: 86,246,068 (GRCm39)		probably benign	Het
Gtf2ird1	A	T	5: 134,386,685 (GRCm39)	Y345*	probably null	Het
Hmcn1	T	A	1: 150,695,200 (GRCm39)	T235S	probably benign	Het
Igkv5-48	A	G	6: 69,703,738 (GRCm39)	Y56H	possibly damaging	Het
Il17re	C	T	6: 113,446,530 (GRCm39)	T427I	probably benign	Het
Itpr3	A	T	17: 27,302,582 (GRCm39)	D80V	probably damaging	Het
Kif21a	G	T	15: 90,833,213 (GRCm39)	H1317N	probably benign	Het
Kif28	T	C	1: 179,526,209 (GRCm39)	K144E	probably damaging	Het
Kif4-ps	A	C	12: 101,113,330 (GRCm39)		noncoding transcript	Het
Klk1b11	C	T	7: 43,427,160 (GRCm39)	T148I	probably damaging	Het
Klkb1	T	A	8: 45,739,995 (GRCm39)	H99L	probably damaging	Het
Kpna6	A	C	4: 129,550,198 (GRCm39)		probably null	Het
Lama3	G	T	18: 12,685,883 (GRCm39)	K1132N	probably damaging	Het
Lcp1	T	A	14: 75,445,911 (GRCm39)	L264*	probably null	Het
Map2	T	C	1: 66,452,664 (GRCm39)	V360A	probably benign	Het
Med13	A	T	11: 86,189,673 (GRCm39)	S1079T	probably damaging	Het
Mettl13	A	G	1: 162,364,789 (GRCm39)	M162T	probably damaging	Het
Mppe1	T	G	18: 67,361,133 (GRCm39)	E208A	probably benign	Het
Msantd2	A	C	9: 37,400,675 (GRCm39)	K19T	possibly damaging	Het
Mylk3	A	G	8: 86,091,412 (GRCm39)	V131A	probably damaging	Het
Myocd	A	T	11: 65,074,299 (GRCm39)	S609T	possibly damaging	Het
Ncbp3	G	A	11: 72,944,355 (GRCm39)		probably null	Het
Neb	T	A	2: 52,136,871 (GRCm39)	L3203F	probably damaging	Het
Notch2	C	A	3: 98,046,949 (GRCm39)	T1756K	probably benign	Het
Nphp4	A	T	4: 152,622,250 (GRCm39)	R544W	probably damaging	Het
Or3a1c	A	T	11: 74,046,745 (GRCm39)	Y255F	probably benign	Het
Or4p18	T	G	2: 88,232,756 (GRCm39)	H174P	probably damaging	Het
Or5c1	A	T	2: 37,222,578 (GRCm39)	D273V	probably damaging	Het
Parp4	T	A	14: 56,827,355 (GRCm39)	V163E	possibly damaging	Het
Pcdhgb1	C	A	18: 37,815,425 (GRCm39)	Q639K	probably benign	Het
Pcnx2	A	G	8: 126,577,869 (GRCm39)	V936A	probably benign	Het
Pcsk7	T	A	9: 45,830,160 (GRCm39)	M418K	probably damaging	Het
Pglyrp4	T	C	3: 90,640,314 (GRCm39)	I188T	probably benign	Het
Pgs1	A	G	11: 117,896,345 (GRCm39)	R339G	probably benign	Het
Pik3r3	A	G	4: 116,143,388 (GRCm39)	I294V	probably benign	Het
Pik3r6	A	G	11: 68,430,771 (GRCm39)	D520G	probably damaging	Het
Pkdrej	A	G	15: 85,704,610 (GRCm39)	V442A	probably benign	Het
Ppfibp1	T	A	6: 146,931,917 (GRCm39)		probably benign	Het
Ppp3ca	C	A	3: 136,640,810 (GRCm39)	Q454K	possibly damaging	Het
Ppp5c	A	T	7: 16,743,861 (GRCm39)	M191K	probably damaging	Het
Prl4a1	A	T	13: 28,207,308 (GRCm39)	Y194F	possibly damaging	Het
Ptpn21	G	T	12: 98,646,362 (GRCm39)	T1032K	probably damaging	Het
Ptprh	A	T	7: 4,554,006 (GRCm39)		probably null	Het
Ptprm	T	A	17: 66,985,062 (GRCm39)	R1447S	probably benign	Het
Pxk	T	A	14: 8,140,734 (GRCm38)	D236E	probably damaging	Het
Qars1	T	C	9: 108,386,130 (GRCm39)	F107S	probably damaging	Het
Rbbp6	A	G	7: 122,599,031 (GRCm39)		probably benign	Het
Rptor	A	T	11: 119,712,466 (GRCm39)		probably benign	Het
Rtn4	T	A	11: 29,690,994 (GRCm39)	M1095K	probably damaging	Het
Serpinb3b	T	A	1: 107,082,445 (GRCm39)	H273L	probably benign	Het
Sgce	G	A	6: 4,689,630 (GRCm39)	T401M	probably benign	Het
Slc12a6	C	T	2: 112,188,870 (GRCm39)	R1083W	probably damaging	Het
Slc45a4	A	T	15: 73,456,299 (GRCm39)	M635K	probably damaging	Het
Slc6a1	T	A	6: 114,284,662 (GRCm39)	V240D	probably damaging	Het
Snx9	G	A	17: 5,952,794 (GRCm39)		probably null	Het
Spred3	A	G	7: 28,867,249 (GRCm39)	V49A	probably damaging	Het
Tars1	A	G	15: 11,390,477 (GRCm39)	F334S	probably damaging	Het
Tdpoz1	A	G	3: 93,578,454 (GRCm39)	V110A	probably benign	Het
Tfrc	T	G	16: 32,437,097 (GRCm39)	V252G	probably damaging	Het
Tm6sf2	T	C	8: 70,528,128 (GRCm39)		probably benign	Het
Txlnb	T	C	10: 17,714,717 (GRCm39)	V383A	probably damaging	Het
Utp20	C	A	10: 88,652,811 (GRCm39)	V368L	probably benign	Het
Vmn2r12	A	T	5: 109,239,372 (GRCm39)	V397E	probably damaging	Het
Zdhhc12	G	A	2: 29,981,538 (GRCm39)	R175W	probably damaging	Het
Zfyve9	A	G	4: 108,538,097 (GRCm39)		probably null	Het

Other mutations in Gpbar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R0944:Gpbar1	UTSW	1	74,318,681 (GRCm39)	missense	probably benign
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
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'- GCCTGGAACTCTGTTATCGC -3'
(R):5'- TCCTTCTAGGGCAGTCTACTGG -3'

Sequencing Primer
(F):5'- CTCATCTCATTGGGCAGCAC -3'
(R):5'- CTCCCACTTCTGGAGATATGGAAG -3'

Posted On

2016-04-27