Mutagenetix > Incidental Mutation

Incidental Mutation 'R1804:Glp1r'

203415

Institutional Source

Beutler Lab

Gene Symbol

Glp1r

Ensembl Gene

ENSMUSG00000024027

Gene Name

glucagon-like peptide 1 receptor

Synonyms

GLP-1R, GLP1Rc

MMRRC Submission

039834-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1804 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31120841-31155484 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 31149687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110221 (fasta)

Gene Model

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

AlphaFold

O35659

Predicted Effect

probably null
Transcript: ENSMUST00000114574

SMART Domains

Protein: ENSMUSP00000110221
Gene: ENSMUSG00000024027

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

0.9755

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.5%
20x: 89.8%

Validation Efficiency

96% (77/80)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	A	G	1: 183,765,400 (GRCm39)	Y220H	probably benign	Het
4930579C12Rik	T	C	9: 89,034,113 (GRCm39)		noncoding transcript	Het
Abcc8	T	C	7: 45,769,903 (GRCm39)	S871G	probably benign	Het
Acly	T	C	11: 100,406,731 (GRCm39)	Y288C	probably damaging	Het
Adgrb1	T	A	15: 74,401,389 (GRCm39)	D128E	probably damaging	Het
Alms1	C	T	6: 85,598,257 (GRCm39)	Q1497*	probably null	Het
Bltp2	A	G	11: 78,164,295 (GRCm39)	H1165R	probably damaging	Het
Cacna1c	G	A	6: 118,664,007 (GRCm39)	T688M	probably damaging	Het
Ccdc7a	A	T	8: 129,715,247 (GRCm39)	L279*	probably null	Het
Cep135	A	G	5: 76,784,779 (GRCm39)	E958G	probably benign	Het
Clec4n	G	T	6: 123,206,981 (GRCm39)	V2L	possibly damaging	Het
Col28a1	C	T	6: 8,164,612 (GRCm39)		probably null	Het
Dcaf5	A	G	12: 80,386,603 (GRCm39)	S508P	probably benign	Het
Dlgap2	C	A	8: 14,777,809 (GRCm39)	N351K	possibly damaging	Het
Dnah8	T	A	17: 30,927,381 (GRCm39)	Y1346N	probably benign	Het
Dqx1	T	C	6: 83,037,303 (GRCm39)	V322A	probably damaging	Het
Ebf3	A	C	7: 136,802,250 (GRCm39)	L412V	possibly damaging	Het
Epha5	T	C	5: 84,479,674 (GRCm39)	N110S	probably benign	Het
Fcgbp	T	C	7: 27,785,564 (GRCm39)	C334R	probably benign	Het
Gm4952	G	T	19: 12,595,784 (GRCm39)	R58L	probably damaging	Het
Gm7579	G	A	7: 141,765,675 (GRCm39)	C27Y	unknown	Het
Golm1	T	A	13: 59,790,203 (GRCm39)		probably null	Het
Gucy2g	T	A	19: 55,198,741 (GRCm39)	I801F	probably benign	Het
H2-D1	T	C	17: 35,482,528 (GRCm39)	Y83H	probably damaging	Het
Homez	A	T	14: 55,094,598 (GRCm39)	I19N	probably damaging	Het
Hoxa5	T	C	6: 52,179,628 (GRCm39)	K249R	probably damaging	Het
Hsd17b4	A	T	18: 50,311,051 (GRCm39)	N550Y	probably damaging	Het
Ipo4	A	T	14: 55,866,913 (GRCm39)	N668K	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klb	A	G	5: 65,537,196 (GRCm39)	D842G	probably damaging	Het
Minar1	T	A	9: 89,485,152 (GRCm39)	M82L	possibly damaging	Het
Mmp21	G	T	7: 133,280,611 (GRCm39)	P120T	probably benign	Het
Mroh7	T	A	4: 106,551,589 (GRCm39)	I918F	possibly damaging	Het
Muc5b	A	G	7: 141,417,517 (GRCm39)	T3488A	possibly damaging	Het
Npc1	C	T	18: 12,356,145 (GRCm39)	C42Y	probably damaging	Het
Ogdh	A	G	11: 6,288,565 (GRCm39)	Y214C	probably damaging	Het
Or2q1	G	A	6: 42,795,155 (GRCm39)	C250Y	possibly damaging	Het
Or4k15c	A	T	14: 50,321,359 (GRCm39)	W260R	probably damaging	Het
Or4k35	T	C	2: 111,100,275 (GRCm39)	M146V	probably benign	Het
Or5al1	G	T	2: 85,990,417 (GRCm39)	T99N	probably benign	Het
Or8d23	A	G	9: 38,841,946 (GRCm39)	T160A	possibly damaging	Het
Phtf1	A	G	3: 103,894,883 (GRCm39)		probably benign	Het
Plb1	A	G	5: 32,511,041 (GRCm39)	N1302S	possibly damaging	Het
Prex2	A	G	1: 11,202,566 (GRCm39)	K492E	probably damaging	Het
Prkaa1	A	G	15: 5,208,259 (GRCm39)	D509G	probably benign	Het
Rims2	C	T	15: 39,300,439 (GRCm39)	Q57*	probably null	Het
Rnf40	T	C	7: 127,195,120 (GRCm39)	V411A	possibly damaging	Het
Rraga	A	G	4: 86,494,681 (GRCm39)	I176V	probably damaging	Het
Rrm2	T	C	12: 24,758,611 (GRCm39)	I51T	probably benign	Het
Serpina3a	T	A	12: 104,084,675 (GRCm39)		probably benign	Het
Skint7	T	C	4: 111,839,209 (GRCm39)	W168R	probably damaging	Het
Slc27a4	A	G	2: 29,701,279 (GRCm39)	M357V	probably benign	Het
Slc4a3	A	G	1: 75,528,361 (GRCm39)	H452R	probably damaging	Het
Smc1b	A	T	15: 85,011,991 (GRCm39)	I127K	possibly damaging	Het
Snap91	T	A	9: 86,665,470 (GRCm39)	M383L	probably benign	Het
Taf6l	A	T	19: 8,750,998 (GRCm39)	L52Q	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tas2r124	A	G	6: 132,732,488 (GRCm39)	I266V	probably benign	Het
Tesk2	T	C	4: 116,657,818 (GRCm39)		probably benign	Het
Tmem131l	T	G	3: 83,817,786 (GRCm39)	Q1237P	possibly damaging	Het
Tmem67	A	G	4: 12,045,789 (GRCm39)		probably null	Het
Tnfaip8	T	A	18: 50,223,728 (GRCm39)	C179S	probably damaging	Het
Ush2a	G	A	1: 188,365,926 (GRCm39)		probably null	Het
Vps13b	A	T	15: 35,917,283 (GRCm39)	E3709V	probably damaging	Het
Wdr7	A	T	18: 63,998,511 (GRCm39)	S1153C	probably damaging	Het
Zc2hc1b	A	C	10: 13,047,012 (GRCm39)		probably benign	Het
Zfp438	A	G	18: 5,213,689 (GRCm39)	I423T	probably damaging	Het
Zfp592	C	A	7: 80,673,443 (GRCm39)	P136T	probably damaging	Het
Zfp783	T	A	6: 47,922,819 (GRCm39)		noncoding transcript	Het
Zfp804b	A	T	5: 6,821,756 (GRCm39)	S400T	possibly damaging	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
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
R7165:Glp1r	UTSW	17	31,128,297 (GRCm39)	missense	probably benign	0.23
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'- TCTGTGATTCCAGCTGGCTG -3'
(R):5'- ATTTTGCAGGGTTCCAAACAGAG -3'

Sequencing Primer
(F):5'- CTGCTGGACTAGGAACTCCAATATG -3'
(R):5'- CAGAGCACCCCAGTTTCTC -3'

Posted On

2014-06-23