Mutagenetix > Incidental Mutation

Incidental Mutation 'R7165:Glp1r'

557902

Institutional Source

Beutler Lab

Gene Symbol

Glp1r

Ensembl Gene

ENSMUSG00000024027

Gene Name

glucagon-like peptide 1 receptor

Synonyms

GLP-1R, GLP1Rc

MMRRC Submission

045262-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31120841-31155484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31128297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 92 (A92V)

Ref Sequence

ENSEMBL: ENSMUSP00000110221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114574]

AlphaFold

O35659

Predicted Effect

probably benign
Transcript: ENSMUST00000114574
AA Change: A92V

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110221
Gene: ENSMUSG00000024027
AA Change: A92V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
HormR	58	135	9.88e-27	SMART
Pfam:7tm_2	141	398	7.4e-82	PFAM
low complexity region	440	456	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (79/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 7-transmembrane protein that functions as a receptor for glucagon-like peptide 1 (GLP-1) hormone, which stimulates glucose-induced insulin secretion. This receptor, which functions at the cell surface, becomes internalized in response to GLP-1 and GLP-1 analogs, and it plays an important role in the signaling cascades leading to insulin secretion. It also displays neuroprotective effects in animal models. Polymorphisms in this gene are associated with diabetes. The protein is an important drug target for the treatment of type 2 diabetes and stroke. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
PHENOTYPE: Glucose tolerance and pancreatic secretion is impaired in homozygous null mice. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	C	A	2: 127,965,028 (GRCm39)	A624E	probably benign	Het
Adnp	A	G	2: 168,024,287 (GRCm39)	S1003P	probably benign	Het
Akap8l	T	C	17: 32,557,386 (GRCm39)	D75G	probably damaging	Het
Ap4e1	A	T	2: 126,905,238 (GRCm39)	T970S	possibly damaging	Het
Asb3	T	A	11: 30,979,029 (GRCm39)	N106K	probably damaging	Het
Atp1a3	T	C	7: 24,678,390 (GRCm39)	I988V	probably benign	Het
Camta1	A	G	4: 151,169,157 (GRCm39)	L198S	possibly damaging	Het
Ccdc77	A	G	6: 120,327,193 (GRCm39)	L84P	probably damaging	Het
Ccne1	C	T	7: 37,798,726 (GRCm39)	A298T	probably damaging	Het
Cdc42bpb	T	A	12: 111,287,951 (GRCm39)	E532V	probably damaging	Het
Clasp2	G	A	9: 113,615,467 (GRCm39)		probably null	Het
Cntnap5b	C	A	1: 100,003,887 (GRCm39)	T289N	possibly damaging	Het
Dcun1d4	A	G	5: 73,648,538 (GRCm39)		probably null	Het
Dnah14	A	G	1: 181,532,100 (GRCm39)	T2296A	probably benign	Het
Dnaja4	A	T	9: 54,616,516 (GRCm39)	Q173L	probably damaging	Het
Dync2h1	G	A	9: 7,050,479 (GRCm39)	A3190V	probably benign	Het
Frrs1	T	A	3: 116,671,920 (GRCm39)	I6N	probably benign	Het
Fscn1	T	C	5: 142,957,801 (GRCm39)	V477A	probably benign	Het
Fsip2	G	A	2: 82,811,541 (GRCm39)	G2620E	possibly damaging	Het
Gpr137b	A	T	13: 13,542,205 (GRCm39)	M204K	probably damaging	Het
Gstm1	A	G	3: 107,923,693 (GRCm39)	V104A	probably benign	Het
Gtf2e1	A	T	16: 37,356,228 (GRCm39)	N101K	probably damaging	Het
Igsf9b	T	C	9: 27,245,536 (GRCm39)	F1168L	probably benign	Het
Itpr2	A	T	6: 146,195,589 (GRCm39)	V1629E	probably damaging	Het
Kat14	A	G	2: 144,235,918 (GRCm39)	T428A	probably benign	Het
Kif21b	T	C	1: 136,077,186 (GRCm39)	Y403H	probably damaging	Het
Lpcat1	G	C	13: 73,662,649 (GRCm39)	A533P	probably benign	Het
Lrp2	A	T	2: 69,336,917 (GRCm39)	I1285N	probably damaging	Het
Mboat1	A	T	13: 30,408,398 (GRCm39)	Y187F	probably damaging	Het
Mkx	T	C	18: 7,002,525 (GRCm39)	N7S	probably damaging	Het
Mrps27	A	T	13: 99,551,307 (GRCm39)	T357S	possibly damaging	Het
Muc21	A	G	17: 35,932,870 (GRCm39)	S439P	unknown	Het
Naa35	A	G	13: 59,733,997 (GRCm39)	D9G	probably benign	Het
Ncoa4	T	A	14: 31,897,940 (GRCm39)	N253K	probably damaging	Het
Neb	A	G	2: 52,160,318 (GRCm39)	Y2232H	probably damaging	Het
Nlk	G	A	11: 78,481,793 (GRCm39)	Q223*	probably null	Het
Npas2	T	A	1: 39,331,798 (GRCm39)	I71N	possibly damaging	Het
Nup107	T	A	10: 117,609,267 (GRCm39)	Q364L	probably damaging	Het
Or8g17	T	A	9: 38,934,566 (GRCm39)		probably benign	Het
Otof	C	T	5: 30,532,964 (GRCm39)	G1593S	probably damaging	Het
Panx3	G	T	9: 37,575,381 (GRCm39)	H160Q	probably damaging	Het
Pappa	T	A	4: 65,180,110 (GRCm39)	H990Q	probably damaging	Het
Pax4	G	A	6: 28,446,136 (GRCm39)	P119L	probably damaging	Het
Pcdhb20	T	A	18: 37,638,123 (GRCm39)	D216E	probably damaging	Het
Pcdhgb8	T	A	18: 37,896,231 (GRCm39)	S434T	possibly damaging	Het
Pf4	T	C	5: 90,920,448 (GRCm39)	V3A	probably benign	Het
Phf24	T	C	4: 42,938,325 (GRCm39)	S229P	probably benign	Het
Plcd3	A	G	11: 102,970,439 (GRCm39)	F200S	probably damaging	Het
Ppp1r16a	A	G	15: 76,575,104 (GRCm39)	H4R	probably damaging	Het
Pramel15	A	G	4: 144,099,389 (GRCm39)	C459R	probably damaging	Het
Prdm10	A	G	9: 31,227,738 (GRCm39)		probably null	Het
Prim2	A	G	1: 33,667,474 (GRCm39)		probably null	Het
Prkg1	T	A	19: 30,562,599 (GRCm39)	H550L	probably damaging	Het
Prrc2c	G	T	1: 162,501,086 (GRCm39)	T2809N	possibly damaging	Het
Ptx3	A	G	3: 66,132,391 (GRCm39)	E304G	probably benign	Het
Ralgps2	A	G	1: 156,655,818 (GRCm39)	F369L	probably benign	Het
Rasgrp1	G	A	2: 117,168,885 (GRCm39)	T31I	probably benign	Het
Rbsn	A	T	6: 92,168,315 (GRCm39)	M373K	probably benign	Het
Rnf168	C	G	16: 32,101,179 (GRCm39)	R120G	probably benign	Het
Rp1	A	G	1: 4,420,140 (GRCm39)	I324T	probably damaging	Het
Samd11	T	C	4: 156,336,747 (GRCm39)	S31G	probably benign	Het
Sart3	A	T	5: 113,884,056 (GRCm39)	L652Q	probably benign	Het
Scrn2	A	G	11: 96,924,634 (GRCm39)	E421G	probably benign	Het
Sik2	A	T	9: 50,828,397 (GRCm39)	L215Q	probably damaging	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Stard9	A	T	2: 120,534,639 (GRCm39)	K3632M	probably damaging	Het
Swt1	A	T	1: 151,264,428 (GRCm39)	D695E	probably damaging	Het
Tead3	T	A	17: 28,552,228 (GRCm39)	M357L	probably benign	Het
Tgfbi	A	T	13: 56,775,829 (GRCm39)	T292S	probably damaging	Het
Tmc7	T	C	7: 118,155,157 (GRCm39)	H247R	probably benign	Het
Trmt10b	T	A	4: 45,308,549 (GRCm39)	D236E	probably damaging	Het
Tshz1	C	A	18: 84,034,052 (GRCm39)	V119L	probably damaging	Het
Ttn	A	C	2: 76,658,258 (GRCm39)	V12374G	unknown	Het
Tubgcp2	A	G	7: 139,585,274 (GRCm39)	Y484H	probably damaging	Het
Ubr4	G	C	4: 139,177,824 (GRCm39)	A1947P		Het
Uggt1	A	C	1: 36,194,188 (GRCm39)	V1350G	probably benign	Het
Vmn1r173	A	T	7: 23,402,076 (GRCm39)	M104L	probably benign	Het
Xirp1	A	T	9: 119,848,113 (GRCm39)	C257S	probably damaging	Het
Zfyve26	A	G	12: 79,327,179 (GRCm39)	S724P	probably damaging	Het
Zmpste24	A	T	4: 120,940,091 (GRCm39)	L185Q	probably null	Het
Zpld1	G	A	16: 55,052,594 (GRCm39)	A340V	probably benign	Het

Other mutations in Glp1r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Glp1r	APN	17	31,120,891 (GRCm39)	missense	possibly damaging	0.96
IGL00516:Glp1r	APN	17	31,144,532 (GRCm39)	missense	probably damaging	1.00
IGL00653:Glp1r	APN	17	31,149,734 (GRCm39)	missense	probably damaging	1.00
IGL00917:Glp1r	APN	17	31,138,443 (GRCm39)	splice site	probably benign
IGL02005:Glp1r	APN	17	31,143,585 (GRCm39)	missense	probably benign	0.03
IGL02411:Glp1r	APN	17	31,143,485 (GRCm39)	missense	probably damaging	1.00
IGL02889:Glp1r	APN	17	31,150,118 (GRCm39)	splice site	probably benign
IGL02928:Glp1r	APN	17	31,137,911 (GRCm39)	missense	probably benign	0.00
N/A:Glp1r	UTSW	17	31,150,257 (GRCm39)	missense	probably damaging	0.98
R0135:Glp1r	UTSW	17	31,143,551 (GRCm39)	missense	probably benign	0.00
R0395:Glp1r	UTSW	17	31,155,312 (GRCm39)	missense	probably benign	0.34
R0481:Glp1r	UTSW	17	31,150,191 (GRCm39)	missense	probably benign	0.03
R0602:Glp1r	UTSW	17	31,128,201 (GRCm39)	missense	probably benign	0.12
R0841:Glp1r	UTSW	17	31,138,406 (GRCm39)	missense	probably benign	0.01
R1145:Glp1r	UTSW	17	31,138,406 (GRCm39)	missense	probably benign	0.01
R1145:Glp1r	UTSW	17	31,138,406 (GRCm39)	missense	probably benign	0.01
R1232:Glp1r	UTSW	17	31,137,905 (GRCm39)	missense	probably benign
R1804:Glp1r	UTSW	17	31,149,687 (GRCm39)	splice site	probably null
R1846:Glp1r	UTSW	17	31,148,909 (GRCm39)	critical splice acceptor site	probably null
R1982:Glp1r	UTSW	17	31,144,601 (GRCm39)	nonsense	probably null
R1990:Glp1r	UTSW	17	31,149,722 (GRCm39)	missense	possibly damaging	0.53
R2091:Glp1r	UTSW	17	31,144,523 (GRCm39)	missense	probably damaging	0.97
R3432:Glp1r	UTSW	17	31,143,531 (GRCm39)	missense	probably damaging	1.00
R4456:Glp1r	UTSW	17	31,137,949 (GRCm39)	nonsense	probably null
R4488:Glp1r	UTSW	17	31,137,905 (GRCm39)	missense	probably benign
R4610:Glp1r	UTSW	17	31,150,221 (GRCm39)	missense	probably benign	0.03
R4884:Glp1r	UTSW	17	31,155,240 (GRCm39)	missense	probably damaging	1.00
R5055:Glp1r	UTSW	17	31,137,861 (GRCm39)	missense	probably benign
R6358:Glp1r	UTSW	17	31,151,618 (GRCm39)	missense	probably benign	0.07
R6359:Glp1r	UTSW	17	31,148,946 (GRCm39)	missense	probably damaging	1.00
R6490:Glp1r	UTSW	17	31,143,546 (GRCm39)	missense	probably damaging	0.98
R6698:Glp1r	UTSW	17	31,155,375 (GRCm39)	missense	probably damaging	1.00
R7063:Glp1r	UTSW	17	31,144,532 (GRCm39)	missense	probably damaging	1.00
R7293:Glp1r	UTSW	17	31,143,599 (GRCm39)	missense	probably benign	0.00
R7646:Glp1r	UTSW	17	31,155,257 (GRCm39)	missense	probably benign	0.38
R7655:Glp1r	UTSW	17	31,149,572 (GRCm39)	critical splice donor site	probably null
R7656:Glp1r	UTSW	17	31,149,572 (GRCm39)	critical splice donor site	probably null
R7686:Glp1r	UTSW	17	31,144,633 (GRCm39)	missense	probably damaging	1.00
R8531:Glp1r	UTSW	17	31,143,531 (GRCm39)	missense	probably damaging	1.00
R9050:Glp1r	UTSW	17	31,137,892 (GRCm39)	missense	probably damaging	1.00
X0064:Glp1r	UTSW	17	31,138,437 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGCTTAGAGTCCAGAGAGCAC -3'
(R):5'- AGTTCCGACCCCTGTCATTG -3'

Sequencing Primer
(F):5'- CTTAGAGTCCAGAGAGCACTTAGC -3'
(R):5'- GTCATTGCTGACTATCCAACCAC -3'

Posted On

2019-06-26