Mutagenetix > Incidental Mutation

Incidental Mutation 'R0496:Gpbar1'

43897

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

038692-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74317709-74318783 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74318140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 128 (F128L)

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

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
AA Change: F128L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077135
Gene: ENSMUSG00000064272
AA Change: F128L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

98% (99/101)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,774,005 (GRCm39)	K1065E	probably damaging	Het
4933402N03Rik	T	C	7: 130,747,860 (GRCm39)	N44S	probably benign	Het
Abca13	A	G	11: 9,241,701 (GRCm39)	D1188G	probably benign	Het
Abcb11	C	T	2: 69,108,228 (GRCm39)		probably benign	Het
Abcc8	A	T	7: 45,758,244 (GRCm39)	I1274N	probably damaging	Het
Adamtsl1	G	A	4: 86,259,435 (GRCm39)	C827Y	probably damaging	Het
Agap3	T	A	5: 24,706,241 (GRCm39)	V369E	probably damaging	Het
Ankrd13b	G	A	11: 77,363,867 (GRCm39)	R195C	probably damaging	Het
Ap3b1	A	G	13: 94,609,446 (GRCm39)		probably benign	Het
Arhgef40	A	T	14: 52,242,364 (GRCm39)		probably benign	Het
Atad5	A	G	11: 79,991,182 (GRCm39)	I692V	probably benign	Het
Atp5f1b	G	T	10: 127,922,043 (GRCm39)	R310L	possibly damaging	Het
AY358078	A	T	14: 52,040,989 (GRCm39)	M103L	unknown	Het
Bcl9l	T	G	9: 44,420,815 (GRCm39)	V1370G	probably benign	Het
Bglap3	T	A	3: 88,276,444 (GRCm39)	Q38L	probably damaging	Het
Bltp1	A	G	3: 37,041,784 (GRCm39)	T2721A	probably damaging	Het
Ccn2	G	T	10: 24,473,413 (GRCm39)	M317I	possibly damaging	Het
Cd38	T	C	5: 44,026,233 (GRCm39)	F6L	probably damaging	Het
Cela3a	A	C	4: 137,131,779 (GRCm39)	V138G	probably damaging	Het
Cemip2	A	T	19: 21,774,709 (GRCm39)	N117I	possibly damaging	Het
Clvs1	T	A	4: 9,424,241 (GRCm39)	I229N	probably damaging	Het
Cpne1	G	A	2: 155,921,339 (GRCm39)	H16Y	probably damaging	Het
Ctc1	T	C	11: 68,926,333 (GRCm39)	L1069P	probably damaging	Het
Dgkd	G	A	1: 87,864,622 (GRCm39)	S996N	probably null	Het
Dnah9	A	T	11: 65,965,961 (GRCm39)	M1685K	probably null	Het
Dnajb12	C	T	10: 59,715,623 (GRCm39)	R42*	probably null	Het
Dock5	T	C	14: 68,054,967 (GRCm39)	Q633R	probably damaging	Het
Dync2h1	A	G	9: 7,155,180 (GRCm39)	M868T	probably benign	Het
Enpp1	G	T	10: 24,547,950 (GRCm39)	H208Q	probably benign	Het
Epha7	T	A	4: 28,821,292 (GRCm39)	D152E	probably damaging	Het
Fancd2	T	C	6: 113,532,091 (GRCm39)		probably benign	Het
Gart	G	A	16: 91,419,925 (GRCm39)		probably benign	Het
Gm10964	A	T	3: 103,646,745 (GRCm39)		probably null	Het
Gsx2	T	A	5: 75,237,726 (GRCm39)	M226K	probably benign	Het
Gucd1	T	C	10: 75,347,100 (GRCm39)	D50G	possibly damaging	Het
Has1	A	G	17: 18,064,008 (GRCm39)	Y544H	probably benign	Het
Hc	A	T	2: 34,903,583 (GRCm39)	Y1024N	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Ift122	T	A	6: 115,882,863 (GRCm39)	H659Q	probably benign	Het
Itga2	T	C	13: 114,990,435 (GRCm39)	Q902R	probably benign	Het
Itgb2l	T	C	16: 96,235,901 (GRCm39)	K181E	possibly damaging	Het
Jak3	A	T	8: 72,135,041 (GRCm39)	H558L	probably damaging	Het
Kcnh8	A	G	17: 53,032,886 (GRCm39)	T58A	probably benign	Het
Klhl6	GT	G	16: 19,775,716 (GRCm39)	279	probably null	Het
Krt33a	C	T	11: 99,903,155 (GRCm39)		probably benign	Het
Magi2	A	T	5: 20,866,357 (GRCm39)		probably benign	Het
Map4	G	A	9: 109,868,918 (GRCm39)		probably benign	Het
Map4k4	T	A	1: 40,045,982 (GRCm39)	S754T	probably damaging	Het
Mapk8ip3	A	G	17: 25,133,424 (GRCm39)		probably benign	Het
Mib1	A	G	18: 10,804,773 (GRCm39)	S918G	probably benign	Het
Mipol1	T	A	12: 57,503,963 (GRCm39)	V377D	probably damaging	Het
Mlh1	T	C	9: 111,070,624 (GRCm39)	T364A	probably benign	Het
Mta1	C	T	12: 113,094,941 (GRCm39)	Q400*	probably null	Het
Mthfd1l	C	G	10: 4,040,006 (GRCm39)	R806G	probably benign	Het
Myh13	C	A	11: 67,239,641 (GRCm39)	N730K	probably damaging	Het
Myom1	A	G	17: 71,391,301 (GRCm39)	K937E	probably damaging	Het
Naxd	T	C	8: 11,560,224 (GRCm39)		probably benign	Het
Negr1	G	T	3: 156,721,904 (GRCm39)	K159N	probably damaging	Het
Nwd2	G	T	5: 63,963,686 (GRCm39)	W1090L	probably damaging	Het
Or1e1f	T	C	11: 73,855,706 (GRCm39)	S91P	probably benign	Het
Or2j3	A	G	17: 38,615,549 (GRCm39)	S268P	probably damaging	Het
Or51v14	C	T	7: 103,261,204 (GRCm39)	A119T	probably benign	Het
Or52r1c	T	C	7: 102,734,797 (GRCm39)	I19T	probably damaging	Het
Or5d41	A	T	2: 88,054,499 (GRCm39)	Y292*	probably null	Het
Pcsk6	G	A	7: 65,576,997 (GRCm39)	S58N	probably benign	Het
Pdzrn3	G	A	6: 101,127,531 (GRCm39)	T1045I	possibly damaging	Het
Pitrm1	T	C	13: 6,618,750 (GRCm39)	L641P	probably damaging	Het
Pkd1l1	G	T	11: 8,879,430 (GRCm39)	H474N	probably damaging	Het
Pltp	A	G	2: 164,694,381 (GRCm39)		probably benign	Het
Qtrt1	C	T	9: 21,330,844 (GRCm39)	T324M	probably benign	Het
Racgap1	A	T	15: 99,537,713 (GRCm39)		probably benign	Het
Rhbg	A	G	3: 88,161,805 (GRCm39)	V50A	probably benign	Het
Rnf135	G	A	11: 80,074,776 (GRCm39)	V12M	probably damaging	Het
Rnf7l	G	T	10: 63,257,381 (GRCm39)	C46*	probably null	Het
Rufy2	T	C	10: 62,828,949 (GRCm39)	V117A	probably damaging	Het
Safb	A	G	17: 56,912,630 (GRCm39)	M866V	probably benign	Het
Slc35c2	G	T	2: 165,122,735 (GRCm39)	T183K	probably damaging	Het
Slc39a7	A	G	17: 34,248,512 (GRCm39)	L377P	probably damaging	Het
Slit1	G	A	19: 41,596,750 (GRCm39)		probably benign	Het
Spaca9	G	A	2: 28,583,022 (GRCm39)	H133Y	probably damaging	Het
Spout1	A	G	2: 30,064,983 (GRCm39)	F339S	probably benign	Het
St6gal2	A	G	17: 55,789,015 (GRCm39)	I16M	probably damaging	Het
Stat2	T	C	10: 128,112,378 (GRCm39)	M6T	probably benign	Het
Swt1	T	A	1: 151,287,021 (GRCm39)	H157L	probably benign	Het
Syne2	A	G	12: 76,085,714 (GRCm39)	N147D	possibly damaging	Het
Tmem222	A	T	4: 133,004,902 (GRCm39)	M45K	possibly damaging	Het
Tmem30a	T	A	9: 79,684,567 (GRCm39)	H95L	probably damaging	Het
Tns3	A	C	11: 8,497,262 (GRCm39)		probably benign	Het
Trpm3	A	G	19: 22,676,142 (GRCm39)	I103V	probably benign	Het
Ube2n	T	C	10: 95,377,206 (GRCm39)	F57S	probably benign	Het
Vil1	T	C	1: 74,460,499 (GRCm39)	S219P	possibly damaging	Het
Wdfy4	A	G	14: 32,862,695 (GRCm39)		probably benign	Het
Wdr7	T	C	18: 63,924,914 (GRCm39)	S966P	probably benign	Het
Wnt8a	A	G	18: 34,677,900 (GRCm39)	N103D	probably damaging	Het
Zfp523	G	A	17: 28,419,419 (GRCm39)	E186K	possibly damaging	Het
Zfp791	A	T	8: 85,836,609 (GRCm39)	D418E	probably benign	Het
Zscan20	A	G	4: 128,485,682 (GRCm39)	V192A	probably benign	Het

Other mutations in Gpbar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- TGTGCCAAGACCCATGATGACACC -3'
(R):5'- TCATAGGCCAAGACTGACAGGAGC -3'

Sequencing Primer
(F):5'- TAAGCCTACTACTAGCCGGG -3'
(R):5'- CCAGGGTTGAGGGTACATC -3'

Posted On

2013-05-29