Incidental Mutation 'IGL02214:Gipr'
| ID |
284788 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gipr
|
| Ensembl Gene |
ENSMUSG00000030406 |
| Gene Name |
gastric inhibitory polypeptide receptor |
| Synonyms |
LOC381853, LOC232937, glucose-dependent insulinotropic polypeptide receptor |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL02214
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
18889986-18900052 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 18891471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 402
(G402V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049294]
[ENSMUST00000094790]
[ENSMUST00000206971]
|
| AlphaFold |
Q0P543 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049294
|
| SMART Domains |
Protein: ENSMUSP00000037597
Gene: ENSMUSG00000040824
| Domain | Start | End | E-Value | Type |
|---|
|
Sm
|
32 |
111 |
3.94e-19 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094790
AA Change: G402V
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092384
Gene: ENSMUSG00000030406
AA Change: G402V
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
T |
C |
2: 32,464,736 (GRCm39) |
|
probably benign |
Het |
| A330008L17Rik |
T |
A |
8: 100,148,390 (GRCm39) |
|
noncoding transcript |
Het |
| A930004D18Rik |
A |
G |
2: 18,032,067 (GRCm39) |
L17P |
unknown |
Het |
| Abca14 |
A |
T |
7: 119,893,398 (GRCm39) |
M1283L |
probably benign |
Het |
| Adarb1 |
A |
T |
10: 77,158,135 (GRCm39) |
V104E |
probably damaging |
Het |
| Ano1 |
T |
A |
7: 144,209,445 (GRCm39) |
N252Y |
possibly damaging |
Het |
| Atp6v0a1 |
A |
G |
11: 100,930,666 (GRCm39) |
S498G |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,178,043 (GRCm39) |
V1942A |
probably benign |
Het |
| Carf |
T |
A |
1: 60,187,240 (GRCm39) |
D579E |
probably damaging |
Het |
| Cltc |
A |
T |
11: 86,623,412 (GRCm39) |
S200R |
probably benign |
Het |
| Cpeb1 |
T |
C |
7: 81,021,805 (GRCm39) |
S113G |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Ehd3 |
T |
A |
17: 74,127,541 (GRCm39) |
L158H |
probably damaging |
Het |
| Etfa |
C |
A |
9: 55,372,095 (GRCm39) |
G289W |
probably damaging |
Het |
| Fndc3c1 |
G |
A |
X: 105,469,435 (GRCm39) |
T1029I |
probably benign |
Het |
| Hacd1 |
C |
T |
2: 14,031,758 (GRCm39) |
V242M |
probably damaging |
Het |
| Hecw1 |
A |
G |
13: 14,474,978 (GRCm39) |
L520P |
probably damaging |
Het |
| Ibtk |
A |
T |
9: 85,596,232 (GRCm39) |
|
probably benign |
Het |
| Igkv16-104 |
A |
C |
6: 68,402,778 (GRCm39) |
I24L |
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 53,184,939 (GRCm39) |
Y407F |
possibly damaging |
Het |
| Mansc1 |
C |
T |
6: 134,587,323 (GRCm39) |
V285M |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,193,636 (GRCm39) |
R110G |
possibly damaging |
Het |
| Morn1 |
C |
T |
4: 155,176,776 (GRCm39) |
H100Y |
probably damaging |
Het |
| Naip6 |
A |
T |
13: 100,452,567 (GRCm39) |
S165T |
probably damaging |
Het |
| Or13a24 |
A |
T |
7: 140,154,470 (GRCm39) |
R135* |
probably null |
Het |
| Or5aq1 |
T |
G |
2: 86,965,849 (GRCm39) |
K272T |
probably damaging |
Het |
| Prx |
G |
T |
7: 27,218,337 (GRCm39) |
R946M |
probably damaging |
Het |
| Ptchd1 |
A |
G |
X: 154,356,706 (GRCm39) |
V833A |
possibly damaging |
Het |
| Rgl2 |
A |
G |
17: 34,154,163 (GRCm39) |
D481G |
probably benign |
Het |
| Serpinb3a |
A |
G |
1: 106,976,218 (GRCm39) |
|
probably null |
Het |
| Shtn1 |
T |
C |
19: 58,988,318 (GRCm39) |
|
probably benign |
Het |
| Slco1a7 |
T |
A |
6: 141,668,911 (GRCm39) |
D507V |
possibly damaging |
Het |
| Sult1b1 |
C |
T |
5: 87,682,949 (GRCm39) |
|
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,923,106 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
C |
T |
15: 72,884,731 (GRCm39) |
W416* |
probably null |
Het |
| Ubr4 |
T |
C |
4: 139,155,894 (GRCm39) |
Y2240H |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,189,138 (GRCm39) |
|
probably null |
Het |
| Vmn2r76 |
A |
C |
7: 85,879,138 (GRCm39) |
F387L |
probably benign |
Het |
| Vps8 |
G |
A |
16: 21,336,035 (GRCm39) |
C729Y |
probably damaging |
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 |
|
|
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 |
|
R5087:Gipr
|
UTSW |
7 |
18,893,689 (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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation