Mutagenetix > Incidental Mutation

Incidental Mutation 'R5087:Gipr'

387510

Institutional Source

Beutler Lab

Gene Symbol

Gipr

Ensembl Gene

ENSMUSG00000030406

Gene Name

gastric inhibitory polypeptide receptor

Synonyms

LOC381853, LOC232937, glucose-dependent insulinotropic polypeptide receptor

MMRRC Submission

042676-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5087 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18889986-18900052 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 18893689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 328 (C328F)

Ref Sequence

ENSEMBL: ENSMUSP00000092384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094790] [ENSMUST00000206971]

AlphaFold

Q0P543

Predicted Effect

probably damaging
Transcript: ENSMUST00000094790
AA Change: C328F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092384
Gene: ENSMUSG00000030406
AA Change: C328F

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
HormR	53	123	6.14e-23	SMART
Pfam:7tm_2	130	384	1.3e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206857

Predicted Effect

probably benign
Transcript: ENSMUST00000206971

Meta Mutation Damage Score

0.0965

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G-protein coupled receptor for gastric inhibitory polypeptide (GIP), which was originally identified as an activity in gut extracts that inhibited gastric acid secretion and gastrin release, but subsequently was demonstrated to stimulate insulin release in the presence of elevated glucose. Mice lacking this gene exhibit higher blood glucose levels with impaired initial insulin response after oral glucose load. Defect in this gene thus may contribute to the pathogenesis of diabetes. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous inactivation of this gene results in mild glucose intolerance due to impaired glucose-stimulated insulin secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adhfe1	A	G	1: 9,631,851 (GRCm39)		probably benign	Het
Anln	T	C	9: 22,286,340 (GRCm39)	T322A	possibly damaging	Het
Best3	A	T	10: 116,844,907 (GRCm39)	Y354F	probably benign	Het
Cd44	C	T	2: 102,661,699 (GRCm39)	V509I	possibly damaging	Het
Cdk5rap1	T	C	2: 154,184,315 (GRCm39)	N529S	probably damaging	Het
Cnst	A	G	1: 179,450,378 (GRCm39)	D614G	possibly damaging	Het
Cpq	T	C	15: 33,213,008 (GRCm39)	I9T	probably benign	Het
Cyp2j6	T	C	4: 96,419,936 (GRCm39)	H265R	probably damaging	Het
Dctn1	T	A	6: 83,168,621 (GRCm39)	M458K	probably damaging	Het
Disc1	A	C	8: 125,858,899 (GRCm39)	I454L	probably benign	Het
Dnaja4	A	G	9: 54,607,023 (GRCm39)	E4G	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Eipr1	C	A	12: 28,878,855 (GRCm39)	N136K	probably benign	Het
Fut11	A	G	14: 20,746,229 (GRCm39)	N357S	probably damaging	Het
Gbp2b	C	T	3: 142,304,015 (GRCm39)	P37S	probably damaging	Het
Ghr	T	G	15: 3,349,622 (GRCm39)	K519Q	probably damaging	Het
Gm27013	A	T	6: 130,654,633 (GRCm39)	N276K	probably damaging	Het
Got2	C	A	8: 96,598,951 (GRCm39)	K150N	probably benign	Het
Gucy2c	A	G	6: 136,744,033 (GRCm39)	S189P	possibly damaging	Het
H2-T5	C	A	17: 36,476,308 (GRCm39)	G347*	probably null	Het
Hells	T	C	19: 38,932,189 (GRCm39)	V153A	probably benign	Het
Ighd	G	A	12: 113,378,047 (GRCm39)		probably benign	Het
Inhca	C	T	9: 103,143,420 (GRCm39)	V361M	probably damaging	Het
Itga4	A	C	2: 79,145,973 (GRCm39)	D725A	possibly damaging	Het
Itgbl1	T	A	14: 124,204,151 (GRCm39)	L414Q	possibly damaging	Het
Kat2b-ps	A	G	5: 93,539,585 (GRCm39)		noncoding transcript	Het
Lrrc1	A	T	9: 77,364,740 (GRCm39)	S192T	probably benign	Het
Mc2r	A	T	18: 68,541,274 (GRCm39)	N6K	probably benign	Het
Moxd2	A	C	6: 40,856,270 (GRCm39)	L534W	probably damaging	Het
Myh4	A	T	11: 67,146,235 (GRCm39)	D1431V	probably damaging	Het
Naa15	T	A	3: 51,364,706 (GRCm39)		probably null	Het
Naa16	G	A	14: 79,614,855 (GRCm39)	T215I	possibly damaging	Het
Ntng1	A	T	3: 110,042,645 (GRCm39)	Y60*	probably null	Het
Or1e29	T	C	11: 73,668,084 (GRCm39)	Y23C	possibly damaging	Het
Or2g25	A	T	17: 37,970,612 (GRCm39)	V204E	probably damaging	Het
Pccb	T	C	9: 100,867,296 (GRCm39)		probably benign	Het
Pcnx1	C	A	12: 82,041,713 (GRCm39)	P2115Q	probably damaging	Het
Pfkfb3	G	A	2: 11,488,825 (GRCm39)	T313I	probably damaging	Het
Pld1	A	G	3: 28,178,731 (GRCm39)	N875S	probably damaging	Het
Ptpn20	A	T	14: 33,336,398 (GRCm39)	D79V	possibly damaging	Het
Rabgap1l	C	A	1: 160,549,809 (GRCm39)	V266L	probably damaging	Het
Reep6	A	G	10: 80,171,009 (GRCm39)	D295G	probably damaging	Het
Sass6	T	C	3: 116,403,947 (GRCm39)	L195P	probably damaging	Het
Slc25a27	A	G	17: 43,977,821 (GRCm39)	S25P	probably damaging	Het
Smok2b	T	A	17: 13,454,011 (GRCm39)	M57K	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Sspo	T	C	6: 48,465,405 (GRCm39)	V71A	possibly damaging	Het
Stab1	G	A	14: 30,881,261 (GRCm39)	L590F	probably damaging	Het
Stard9	T	A	2: 120,527,500 (GRCm39)	Y1252*	probably null	Het
Syde2	T	A	3: 145,712,881 (GRCm39)	D1006E	probably damaging	Het
Syde2	CAGTT	CAGTTAGTT	3: 145,707,163 (GRCm39)		probably null	Het
Tmc5	G	A	7: 118,244,609 (GRCm39)	A496T	possibly damaging	Het
Ttn	A	G	2: 76,566,704 (GRCm39)	V28063A	probably damaging	Het
Usp25	A	C	16: 76,874,007 (GRCm39)	I528L	probably benign	Het
Vmn1r58	C	T	7: 5,413,666 (GRCm39)	S188N	probably benign	Het
Wfikkn2	A	T	11: 94,129,173 (GRCm39)	C323S	probably damaging	Het
Zfy1	A	C	Y: 732,964 (GRCm39)	S290A	unknown	Het

Other mutations in Gipr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01481:Gipr	APN	7	18,893,431 (GRCm39)	unclassified	probably benign
IGL02214:Gipr	APN	7	18,891,471 (GRCm39)	missense	possibly damaging	0.46
IGL02525:Gipr	APN	7	18,893,690 (GRCm39)	missense	possibly damaging	0.64
IGL03163:Gipr	APN	7	18,896,481 (GRCm39)	nonsense	probably null
PIT4449001:Gipr	UTSW	7	18,894,543 (GRCm39)	missense	probably benign	0.05
PIT4480001:Gipr	UTSW	7	18,896,859 (GRCm39)	missense	probably damaging	1.00
R1813:Gipr	UTSW	7	18,897,996 (GRCm39)	missense	probably benign	0.02
R1896:Gipr	UTSW	7	18,897,996 (GRCm39)	missense	probably benign	0.02
R3409:Gipr	UTSW	7	18,893,719 (GRCm39)	missense	possibly damaging	0.74
R3949:Gipr	UTSW	7	18,891,354 (GRCm39)	missense	probably benign	0.00
R4781:Gipr	UTSW	7	18,891,300 (GRCm39)	missense	possibly damaging	0.95
R4841:Gipr	UTSW	7	18,896,601 (GRCm39)	missense	probably damaging	1.00
R4842:Gipr	UTSW	7	18,896,601 (GRCm39)	missense	probably damaging	1.00
R5297:Gipr	UTSW	7	18,891,469 (GRCm39)	missense	probably damaging	1.00
R5480:Gipr	UTSW	7	18,894,579 (GRCm39)	missense	probably damaging	1.00
R5763:Gipr	UTSW	7	18,897,475 (GRCm39)	missense	probably damaging	0.99
R6957:Gipr	UTSW	7	18,898,529 (GRCm39)	missense	probably benign	0.01
R7035:Gipr	UTSW	7	18,896,809 (GRCm39)	missense	probably damaging	1.00
R7254:Gipr	UTSW	7	18,897,538 (GRCm39)	missense	probably damaging	1.00
R7720:Gipr	UTSW	7	18,896,884 (GRCm39)	missense	probably benign	0.02
R8234:Gipr	UTSW	7	18,898,533 (GRCm39)	missense	unknown
R9098:Gipr	UTSW	7	18,897,495 (GRCm39)	missense	unknown
R9372:Gipr	UTSW	7	18,896,863 (GRCm39)	missense	probably benign	0.01
R9776:Gipr	UTSW	7	18,891,487 (GRCm39)	missense	probably damaging	0.96
Z1177:Gipr	UTSW	7	18,891,490 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- GAAGATTTCAAAGGCCAGTTTGG -3'
(R):5'- GGCTGTACTCAGGGATTTCTC -3'

Sequencing Primer
(F):5'- AGGGAGCCTTCAACCTGTTC -3'
(R):5'- TCTCATTCTGGGGAAGAGGAGC -3'

Posted On

2016-06-06