Incidental Mutation 'R6491:Oxgr1'
| ID |
522895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oxgr1
|
| Ensembl Gene |
ENSMUSG00000044819 |
| Gene Name |
oxoglutarate (alpha-ketoglutarate) receptor 1 |
| Synonyms |
P2Y15, Cysltr3, LOC239283, Gpr99, Gpr80 |
| MMRRC Submission |
044623-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6491 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
120256997-120279847 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120259419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 263
(I263F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058213]
|
| AlphaFold |
Q6IYF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058213
AA Change: I263F
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000055137
Gene: ENSMUSG00000044819
AA Change: I263F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
50 |
302 |
3.8e-35 |
PFAM |
|
| Meta Mutation Damage Score |
0.0674 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (35/35) |
| 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 (GPCR) that belongs to the oxoglutarate receptor family within the GPCR superfamily. The encoded protein is activated by the citric acid intermediate, oxoglutarate, as well as several cysteinyl leukotrienes, including leukotrienes E4, C4 and D4, which are implicated in many inflammatory disorders. In mice, a knock-out of this gene leads to middle ear inflammation, changes in the mucosal epithelium, and an increase in fluid behind the eardrum, and is associated with hearing loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced leukotriene E4 ligand (LTE4)-induced ear edema at low and intermediate doses and abnormal acid-base balance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,612,508 (GRCm39) |
L431P |
probably damaging |
Het |
| Acad10 |
A |
C |
5: 121,768,220 (GRCm39) |
W779G |
probably damaging |
Het |
| Acrbp |
A |
G |
6: 125,028,442 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,827,459 (GRCm39) |
A565T |
probably benign |
Het |
| Ap2a1 |
A |
T |
7: 44,565,588 (GRCm39) |
I93K |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,383,454 (GRCm39) |
M240K |
probably damaging |
Het |
| Ceacam12 |
A |
T |
7: 17,803,185 (GRCm39) |
K197M |
probably damaging |
Het |
| Cep41 |
T |
C |
6: 30,656,483 (GRCm39) |
N323S |
probably benign |
Het |
| Dst |
A |
G |
1: 34,232,093 (GRCm39) |
T2904A |
probably benign |
Het |
| Eml1 |
G |
A |
12: 108,479,330 (GRCm39) |
|
probably null |
Het |
| Fbln2 |
A |
G |
6: 91,236,732 (GRCm39) |
N749S |
possibly damaging |
Het |
| Irf2bpl |
A |
G |
12: 86,930,238 (GRCm39) |
V145A |
probably benign |
Het |
| Itga2b |
T |
C |
11: 102,350,695 (GRCm39) |
|
probably null |
Het |
| Itga8 |
T |
C |
2: 12,209,587 (GRCm39) |
D466G |
probably damaging |
Het |
| Kdm4c |
G |
T |
4: 74,291,873 (GRCm39) |
C830F |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,499,538 (GRCm39) |
S73P |
probably damaging |
Het |
| Mtdh |
T |
G |
15: 34,116,473 (GRCm39) |
N17K |
probably damaging |
Het |
| Muc3a |
A |
G |
5: 137,246,591 (GRCm39) |
S9P |
probably benign |
Het |
| Or8b46 |
A |
G |
9: 38,558,751 (GRCm39) |
L23P |
probably damaging |
Het |
| Phc1 |
A |
G |
6: 122,311,923 (GRCm39) |
|
|
Het |
| Ppp2r5d |
A |
G |
17: 46,996,509 (GRCm39) |
F388S |
probably damaging |
Het |
| Pxmp4 |
A |
G |
2: 154,434,083 (GRCm39) |
|
probably null |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,267,109 (GRCm39) |
N270S |
possibly damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,278,093 (GRCm39) |
Y504C |
probably damaging |
Het |
| Snx9 |
A |
G |
17: 5,970,437 (GRCm39) |
D391G |
probably benign |
Het |
| St18 |
T |
A |
1: 6,898,209 (GRCm39) |
Y670* |
probably null |
Het |
| Tjp1 |
A |
T |
7: 64,986,865 (GRCm39) |
F207I |
possibly damaging |
Het |
| Trappc3 |
A |
G |
4: 126,169,022 (GRCm39) |
I171V |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,273,328 (GRCm39) |
L446* |
probably null |
Het |
| Vmn2r105 |
A |
T |
17: 20,447,992 (GRCm39) |
Y277* |
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,196,800 (GRCm39) |
N557K |
possibly damaging |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp938 |
A |
G |
10: 82,063,363 (GRCm39) |
*65Q |
probably null |
Het |
|
| Other mutations in Oxgr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02167:Oxgr1
|
APN |
14 |
120,259,342 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02678:Oxgr1
|
APN |
14 |
120,259,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03387:Oxgr1
|
APN |
14 |
120,260,199 (GRCm39) |
nonsense |
probably null |
|
|
IGL03394:Oxgr1
|
APN |
14 |
120,260,022 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1615:Oxgr1
|
UTSW |
14 |
120,260,185 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2919:Oxgr1
|
UTSW |
14 |
120,260,221 (GRCm39) |
start gained |
probably benign |
|
|
R4223:Oxgr1
|
UTSW |
14 |
120,260,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4409:Oxgr1
|
UTSW |
14 |
120,259,572 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4783:Oxgr1
|
UTSW |
14 |
120,259,776 (GRCm39) |
missense |
probably benign |
|
|
R5213:Oxgr1
|
UTSW |
14 |
120,259,552 (GRCm39) |
nonsense |
probably null |
|
|
R5226:Oxgr1
|
UTSW |
14 |
120,259,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6416:Oxgr1
|
UTSW |
14 |
120,259,860 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6670:Oxgr1
|
UTSW |
14 |
120,259,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6904:Oxgr1
|
UTSW |
14 |
120,259,431 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7089:Oxgr1
|
UTSW |
14 |
120,259,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7819:Oxgr1
|
UTSW |
14 |
120,260,281 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9672:Oxgr1
|
UTSW |
14 |
120,259,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9731:Oxgr1
|
UTSW |
14 |
120,260,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9803:Oxgr1
|
UTSW |
14 |
120,259,563 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAAAATGGCATTACTCAAGGG -3'
(R):5'- CTGCCTGCCATTGGTGATAG -3'
Sequencing Primer
(F):5'- CTCAAGGGTTGTTTGAGCAAC -3'
(R):5'- CCTGCCATTGGTGATAGTGACAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation