Mutagenetix > Incidental Mutation

Incidental Mutation 'R6490:Glp1r'

522829

Institutional Source

Beutler Lab

Gene Symbol

Glp1r

Ensembl Gene

ENSMUSG00000024027

Gene Name

glucagon-like peptide 1 receptor

Synonyms

GLP-1R, GLP1Rc

MMRRC Submission

044622-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6490 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31120841-31155484 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31143546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 194 (V194A)

Ref Sequence

ENSEMBL: ENSMUSP00000110221 (fasta)

Gene Model

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

AlphaFold

O35659

Predicted Effect

probably damaging
Transcript: ENSMUST00000114574
AA Change: V194A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110221
Gene: ENSMUSG00000024027
AA Change: V194A

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

0.2986

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

99% (69/70)

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
1700018B08Rik	T	G	8: 122,267,293 (GRCm39)	K38T	probably benign	Het
Abca13	A	G	11: 9,248,661 (GRCm39)	T2803A	probably benign	Het
Adam23	A	G	1: 63,596,613 (GRCm39)	D565G	probably damaging	Het
Adcy3	A	G	12: 4,262,150 (GRCm39)	T1067A	probably damaging	Het
Agrn	A	T	4: 156,251,819 (GRCm39)	Y1921*	probably null	Het
Apc2	A	G	10: 80,149,757 (GRCm39)	N1604D	probably benign	Het
Atxn7	A	T	14: 14,089,446 (GRCm38)	R321*	probably null	Het
Axin1	T	A	17: 26,361,968 (GRCm39)	I104N	probably damaging	Het
Bahd1	T	C	2: 118,747,619 (GRCm39)	S413P	probably benign	Het
Baz2b	C	T	2: 59,732,073 (GRCm39)	C2024Y	probably damaging	Het
Cacna1i	T	A	15: 80,262,448 (GRCm39)	V1388E	probably damaging	Het
Ces4a	G	A	8: 105,876,090 (GRCm39)	V544M	probably benign	Het
Cntn3	G	A	6: 102,255,301 (GRCm39)	T199I	probably damaging	Het
Col6a4	A	T	9: 105,952,191 (GRCm39)	L569*	probably null	Het
Ctnna2	A	G	6: 77,120,892 (GRCm39)	I12T	probably benign	Het
Dhx37	A	G	5: 125,496,196 (GRCm39)	M754T	probably benign	Het
Dmrt1	T	A	19: 25,523,395 (GRCm39)	S249T	possibly damaging	Het
Ell	G	T	8: 71,025,553 (GRCm39)	S59I	probably damaging	Het
Fam89a	G	A	8: 125,467,982 (GRCm39)	S110F	probably damaging	Het
Fer1l4	A	C	2: 155,889,834 (GRCm39)	F278V	possibly damaging	Het
Fyn	T	C	10: 39,427,398 (GRCm39)	I427T	probably damaging	Het
Galnt14	T	C	17: 73,832,365 (GRCm39)	D250G	probably damaging	Het
Glt1d1	T	A	5: 127,721,360 (GRCm39)		probably null	Het
Gm7995	A	G	14: 42,133,327 (GRCm39)	K69R	probably benign	Het
Grip1	A	G	10: 119,822,329 (GRCm39)	T379A	possibly damaging	Het
Gtpbp2	G	T	17: 46,479,147 (GRCm39)	A570S	probably benign	Het
Hmcn1	T	C	1: 150,459,029 (GRCm39)	I5192V	probably benign	Het
Igfl3	A	T	7: 17,913,844 (GRCm39)	I65F	possibly damaging	Het
Igsf10	G	T	3: 59,236,992 (GRCm39)	T1063K	probably benign	Het
Itfg1	A	G	8: 86,466,930 (GRCm39)	V381A	probably benign	Het
Itprid1	A	G	6: 55,953,405 (GRCm39)	D907G	probably damaging	Het
Jmjd8	T	A	17: 26,048,086 (GRCm39)	V16E	probably benign	Het
Kank1	A	G	19: 25,387,449 (GRCm39)	Y374C	probably damaging	Het
Kcnma1	C	T	14: 23,386,165 (GRCm39)	V891I	possibly damaging	Het
Kif20a	C	A	18: 34,762,543 (GRCm39)	T472K	possibly damaging	Het
Klhl32	A	T	4: 24,711,578 (GRCm39)		probably benign	Het
Lrrc37a	A	G	11: 103,347,486 (GRCm39)	S3070P	unknown	Het
Mettl21e	T	G	1: 44,249,425 (GRCm39)	Y77S	probably damaging	Het
Mlst8	G	T	17: 24,696,935 (GRCm39)	D82E	probably benign	Het
Mrgprx2	A	T	7: 48,132,617 (GRCm39)	L67Q	probably damaging	Het
Mylk	T	A	16: 34,750,237 (GRCm39)	L1192Q	possibly damaging	Het
Myt1l	A	T	12: 29,882,365 (GRCm39)	Y520F	unknown	Het
Naip2	A	T	13: 100,297,193 (GRCm39)	W948R	probably benign	Het
Nlrp9a	A	C	7: 26,250,311 (GRCm39)	K25N	probably damaging	Het
Nsd3	T	C	8: 26,204,212 (GRCm39)	C414R	probably damaging	Het
Oit3	A	T	10: 59,274,374 (GRCm39)	V142D	possibly damaging	Het
Or2aj6	C	T	16: 19,443,194 (GRCm39)	V219M	probably benign	Het
P2ry6	T	C	7: 100,587,580 (GRCm39)	T260A	probably damaging	Het
Papola	A	G	12: 105,771,196 (GRCm39)	Q87R	probably benign	Het
Pla2g4a	T	A	1: 149,727,086 (GRCm39)	R557*	probably null	Het
Rgs13	G	T	1: 144,016,576 (GRCm39)	H56N	probably damaging	Het
Sbf1	T	C	15: 89,189,111 (GRCm39)	S537G	probably benign	Het
Sntg1	A	C	1: 8,653,508 (GRCm39)	L243R	possibly damaging	Het
Spata31h1	A	T	10: 82,125,138 (GRCm39)	L2624Q	possibly damaging	Het
Stam2	T	C	2: 52,610,954 (GRCm39)	T23A	probably benign	Het
Tbl1xr1	C	A	3: 22,258,141 (GRCm39)	H467Q	probably damaging	Het
Tmem131l	A	G	3: 83,820,587 (GRCm39)	S1222P	possibly damaging	Het
Tmem43	G	T	6: 91,455,759 (GRCm39)	Q123H	probably damaging	Het
Tmem43	T	A	6: 91,463,862 (GRCm39)	I379N	possibly damaging	Het
Trim43c	A	T	9: 88,727,003 (GRCm39)	I277F	possibly damaging	Het
Ttn	A	G	2: 76,703,211 (GRCm39)		probably benign	Het
Vmn1r75	T	A	7: 11,615,003 (GRCm39)	V245D	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vps53	A	T	11: 75,967,881 (GRCm39)	M414K	probably benign	Het
Wrn	T	G	8: 33,809,248 (GRCm39)	L249F	probably benign	Het
Zc3h13	TGATGTCCGGGATGTCCGGGATGTCCGGGATGTCCGGGATGT	TGATGTCCGGGATGTCCGGGATGTCCGGGATGT	14: 75,560,998 (GRCm39)		probably benign	Het
Zfp454	T	C	11: 50,764,950 (GRCm39)	N161D	probably benign	Het
Zfp619	G	A	7: 39,183,586 (GRCm39)	G60R	probably benign	Het
Zfp623	T	A	15: 75,820,308 (GRCm39)	H421Q	probably damaging	Het
Zfp827	A	G	8: 79,916,606 (GRCm39)		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
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'- TTGAGCATATTCCCAGAGGTGG -3'
(R):5'- CATACAGTGACTCCCTAAGGTCAC -3'

Sequencing Primer
(F):5'- GATACATGCCTGATGTGTATGTATG -3'
(R):5'- CTAAGGTCACATCTGGGCTAC -3'

Posted On

2018-06-06