Incidental Mutation 'PIT4449001:Gipr'
| ID |
555733 |
| Institutional Source |
Beutler Lab
|
| 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: 0.059)
|
| Stock # |
PIT4449001 (G1)
|
| Quality Score |
174.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18889986-18900052 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18894543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 253
(R253H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094790]
[ENSMUST00000206971]
|
| AlphaFold |
Q0P543 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094790
AA Change: R253H
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000092384
Gene: ENSMUSG00000030406
AA Change: R253H
| 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 |
probably benign
Transcript: ENSMUST00000206971
|
| Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asf1b |
A |
G |
8: 84,694,611 (GRCm39) |
N125S |
probably benign |
Het |
| BC048671 |
T |
A |
6: 90,282,145 (GRCm39) |
L101I |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,216,043 (GRCm39) |
L959P |
probably benign |
Het |
| Cfap91 |
T |
C |
16: 38,148,720 (GRCm39) |
E236G |
probably damaging |
Het |
| Cfh |
C |
A |
1: 140,040,303 (GRCm39) |
V598F |
probably damaging |
Het |
| Cyp2j7 |
G |
T |
4: 96,103,575 (GRCm39) |
T320K |
probably damaging |
Het |
| Ddr1 |
A |
G |
17: 35,998,141 (GRCm39) |
I468T |
possibly damaging |
Het |
| Dhx15 |
A |
G |
5: 52,318,300 (GRCm39) |
V510A |
probably damaging |
Het |
| Dpp4 |
T |
A |
2: 62,186,988 (GRCm39) |
K507N |
probably benign |
Het |
| Evpl |
G |
A |
11: 116,124,225 (GRCm39) |
T198M |
possibly damaging |
Het |
| Gabbr1 |
G |
A |
17: 37,367,242 (GRCm39) |
V373I |
probably damaging |
Het |
| Gak |
A |
T |
5: 108,728,791 (GRCm39) |
S1049T |
probably benign |
Het |
| Gm3685 |
T |
A |
14: 7,043,960 (GRCm38) |
M73L |
probably benign |
Het |
| Gm5168 |
C |
T |
X: 25,994,840 (GRCm39) |
R129Q |
probably null |
Het |
| Kcnh1 |
T |
A |
1: 192,100,992 (GRCm39) |
V555D |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,745,651 (GRCm39) |
S1916P |
probably damaging |
Het |
| Lingo4 |
T |
C |
3: 94,309,239 (GRCm39) |
V59A |
probably benign |
Het |
| Mroh8 |
T |
A |
2: 157,067,454 (GRCm39) |
Q635L |
probably damaging |
Het |
| Msh6 |
T |
A |
17: 88,293,616 (GRCm39) |
D790E |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,905,007 (GRCm39) |
W809R |
probably damaging |
Het |
| Or5ac19 |
C |
A |
16: 59,089,493 (GRCm39) |
C179F |
probably damaging |
Het |
| Polr3d |
T |
C |
14: 70,676,903 (GRCm39) |
H397R |
probably benign |
Het |
| Pwp2 |
G |
A |
10: 78,014,304 (GRCm39) |
T432I |
probably benign |
Het |
| Rad21 |
G |
C |
15: 51,836,639 (GRCm39) |
F177L |
probably benign |
Het |
| Rnf182 |
G |
A |
13: 43,822,153 (GRCm39) |
V235I |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,599,014 (GRCm39) |
C1172Y |
probably damaging |
Het |
| Sh2b3 |
A |
G |
5: 121,966,742 (GRCm39) |
L124P |
possibly damaging |
Het |
| Six2 |
T |
C |
17: 85,992,906 (GRCm39) |
N199S |
probably benign |
Het |
| Slc5a3 |
A |
G |
16: 91,874,702 (GRCm39) |
D253G |
probably benign |
Het |
| Synm |
A |
G |
7: 67,385,025 (GRCm39) |
M879T |
probably benign |
Het |
| Tasp1 |
A |
G |
2: 139,752,455 (GRCm39) |
I328T |
possibly damaging |
Het |
| Tbrg4 |
T |
C |
11: 6,569,689 (GRCm39) |
Q309R |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,139,465 (GRCm39) |
L687P |
probably damaging |
Het |
| Trgc3 |
A |
T |
13: 19,447,532 (GRCm39) |
R162* |
probably null |
Het |
| Tufm |
T |
C |
7: 126,086,621 (GRCm39) |
M1T |
probably null |
Het |
| Vmn2r116 |
A |
C |
17: 23,607,921 (GRCm39) |
L496F |
probably benign |
Het |
| Vmn2r75 |
C |
T |
7: 85,814,791 (GRCm39) |
C234Y |
probably damaging |
Het |
| Wars2 |
G |
T |
3: 99,112,595 (GRCm39) |
V162L |
possibly damaging |
Het |
| Zc3h11a |
A |
T |
1: 133,552,349 (GRCm39) |
V586D |
probably benign |
Het |
| Zdhhc5 |
A |
T |
2: 84,520,571 (GRCm39) |
N535K |
probably damaging |
Het |
| Zfp52 |
T |
C |
17: 21,777,478 (GRCm39) |
Y38H |
probably damaging |
Het |
| Zfp729b |
T |
C |
13: 67,739,542 (GRCm39) |
M908V |
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,207,350 (GRCm39) |
I114V |
probably benign |
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 |
|
|
IGL02214:Gipr
|
APN |
7 |
18,891,471 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02525:Gipr
|
APN |
7 |
18,893,690 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03163:Gipr
|
APN |
7 |
18,896,481 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACGATCACCCAGGGAATG -3'
(R):5'- AAAACAAAGAGACTACCCTTGTCTG -3'
Sequencing Primer
(F):5'- AGCTGTCAGTGTGCACAC -3'
(R):5'- AAGAGACTACCCTTGTCTGATGGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation