Incidental Mutation 'R6698:Glp1r'
| ID |
528670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glp1r
|
| Ensembl Gene |
ENSMUSG00000024027 |
| Gene Name |
glucagon-like peptide 1 receptor |
| Synonyms |
GLP-1R, GLP1Rc |
| MMRRC Submission |
044816-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6698 (G1)
|
| Quality Score |
132.008 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
31120841-31155484 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31155375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 454
(Y454C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114574]
|
| AlphaFold |
O35659 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114574
AA Change: Y454C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110221
Gene: ENSMUSG00000024027
AA Change: Y454C
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
95% (40/42) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brca2 |
T |
C |
5: 150,455,859 (GRCm39) |
V200A |
probably damaging |
Het |
| Camk2g |
T |
A |
14: 20,792,776 (GRCm39) |
K393* |
probably null |
Het |
| Catsperb |
T |
A |
12: 101,475,466 (GRCm39) |
F337I |
probably damaging |
Het |
| Cdk17 |
T |
C |
10: 93,064,540 (GRCm39) |
Y270H |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,811,374 (GRCm39) |
N715I |
unknown |
Het |
| Fancg |
A |
G |
4: 43,007,034 (GRCm39) |
S248P |
probably benign |
Het |
| Flvcr1 |
T |
C |
1: 190,757,929 (GRCm39) |
Y79C |
probably damaging |
Het |
| Gabrp |
A |
G |
11: 33,507,017 (GRCm39) |
S198P |
probably damaging |
Het |
| Gask1b |
A |
G |
3: 79,843,902 (GRCm39) |
I10V |
probably damaging |
Het |
| Gpr158 |
A |
C |
2: 21,831,921 (GRCm39) |
D1007A |
probably damaging |
Het |
| Gsdmc3 |
A |
G |
15: 63,732,120 (GRCm39) |
F302S |
possibly damaging |
Het |
| Gsdmc4 |
T |
A |
15: 63,765,613 (GRCm39) |
D312V |
probably benign |
Het |
| Itga5 |
T |
C |
15: 103,259,808 (GRCm39) |
Y663C |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,359,413 (GRCm39) |
M108K |
probably damaging |
Het |
| Klf11 |
T |
G |
12: 24,703,618 (GRCm39) |
S18A |
probably damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,111,737 (GRCm39) |
V819A |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,211,732 (GRCm39) |
M451V |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,192,958 (GRCm39) |
D488G |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,163,362 (GRCm39) |
N589S |
probably benign |
Het |
| Mis12 |
T |
C |
11: 70,916,012 (GRCm39) |
F15S |
probably damaging |
Het |
| Nif3l1 |
A |
G |
1: 58,489,648 (GRCm39) |
D179G |
probably benign |
Het |
| Nlrx1 |
A |
G |
9: 44,177,104 (GRCm39) |
W3R |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,089,815 (GRCm39) |
S1194N |
possibly damaging |
Het |
| Or13m2-ps1 |
A |
T |
6: 42,778,136 (GRCm39) |
T154S |
probably benign |
Het |
| Or5d20-ps1 |
A |
G |
2: 87,931,561 (GRCm39) |
F257L |
unknown |
Het |
| Pnkd |
T |
A |
1: 74,389,836 (GRCm39) |
L320Q |
probably damaging |
Het |
| Prkn |
A |
G |
17: 11,286,183 (GRCm39) |
|
probably null |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Homo |
| Rilpl2 |
C |
T |
5: 124,607,843 (GRCm39) |
E126K |
probably damaging |
Het |
| Rpn2 |
T |
C |
2: 157,139,330 (GRCm39) |
I208T |
possibly damaging |
Het |
| Skint4 |
G |
T |
4: 111,977,096 (GRCm39) |
C170F |
probably damaging |
Het |
| Synj1 |
C |
G |
16: 90,757,340 (GRCm39) |
V877L |
probably damaging |
Het |
| Tcp11 |
A |
T |
17: 28,290,804 (GRCm39) |
I106N |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,711,211 (GRCm39) |
Y991C |
probably damaging |
Het |
| Trib3 |
A |
G |
2: 152,180,339 (GRCm39) |
S285P |
probably damaging |
Het |
| Wdr49 |
A |
T |
3: 75,336,673 (GRCm39) |
W345R |
probably benign |
Het |
| Wnt5a |
A |
G |
14: 28,240,420 (GRCm39) |
Y190C |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,244,040 (GRCm39) |
E955G |
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 |
|
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'- TGAAGACCTTGGCTCGTGTC -3'
(R):5'- TGCCTGCTTCATAGGTTTAGAG -3'
Sequencing Primer
(F):5'- CTCTGCTAATGTAATAACAGGGCC -3'
(R):5'- GCTTCATAGGTTTAGAGAAAGAAAGC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation