Incidental Mutation 'R5823:Tas2r118'
| ID |
450027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas2r118
|
| Ensembl Gene |
ENSMUSG00000043865 |
| Gene Name |
taste receptor, type 2, member 118 |
| Synonyms |
T2R18, mt2r40, mGR18, Tas2r18 |
| MMRRC Submission |
043215-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R5823 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
23969160-23970059 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23969470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 197
(I197T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062463]
|
| AlphaFold |
P59529 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062463
AA Change: I197T
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000053700
Gene: ENSMUSG00000043865
AA Change: I197T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
297 |
4.6e-87 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily. These family members are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Acsl3 |
G |
T |
1: 78,666,003 (GRCm39) |
R143L |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,622,529 (GRCm39) |
I420K |
probably benign |
Het |
| Aoc1l2 |
T |
A |
6: 48,907,486 (GRCm39) |
I162N |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,569,213 (GRCm39) |
E85G |
probably benign |
Het |
| Dnah1 |
G |
T |
14: 30,988,375 (GRCm39) |
F3442L |
possibly damaging |
Het |
| Dock6 |
T |
A |
9: 21,716,124 (GRCm39) |
N1737I |
probably damaging |
Het |
| Fcf1 |
A |
G |
12: 85,020,921 (GRCm39) |
Y55C |
possibly damaging |
Het |
| Fer1l6 |
T |
A |
15: 58,462,352 (GRCm39) |
Y802* |
probably null |
Het |
| Fgf9 |
T |
G |
14: 58,320,759 (GRCm39) |
S10A |
probably damaging |
Het |
| Fhad1 |
A |
G |
4: 141,682,617 (GRCm39) |
I508T |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,461,201 (GRCm39) |
V2692A |
probably damaging |
Het |
| Gm38119 |
G |
T |
3: 92,645,380 (GRCm39) |
H71Q |
unknown |
Het |
| Hcn1 |
A |
T |
13: 117,739,388 (GRCm39) |
H50L |
unknown |
Het |
| Helz2 |
T |
C |
2: 180,878,189 (GRCm39) |
T870A |
possibly damaging |
Het |
| Iqcf4 |
T |
C |
9: 106,445,800 (GRCm39) |
I116V |
probably benign |
Het |
| Lama5 |
T |
A |
2: 179,834,285 (GRCm39) |
I1383F |
probably benign |
Het |
| Lmo2 |
C |
T |
2: 103,811,417 (GRCm39) |
T150I |
probably damaging |
Het |
| Mgat4f |
T |
A |
1: 134,318,655 (GRCm39) |
W476R |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,251,294 (GRCm39) |
E1391G |
probably damaging |
Het |
| Mylk |
T |
A |
16: 34,715,317 (GRCm39) |
|
probably null |
Het |
| Nat10 |
A |
T |
2: 103,560,612 (GRCm39) |
V731D |
probably damaging |
Het |
| Ncapd2 |
A |
G |
6: 125,145,663 (GRCm39) |
V1328A |
probably benign |
Het |
| Nfu1 |
C |
A |
6: 87,002,541 (GRCm39) |
Q207K |
probably damaging |
Het |
| Nipsnap2 |
T |
A |
5: 129,816,833 (GRCm39) |
|
probably null |
Het |
| Npc1 |
T |
C |
18: 12,324,846 (GRCm39) |
K1216E |
possibly damaging |
Het |
| Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
| Phf3 |
T |
C |
1: 30,843,764 (GRCm39) |
I1732V |
probably damaging |
Het |
| Rasgrp4 |
G |
T |
7: 28,837,142 (GRCm39) |
R67L |
probably benign |
Het |
| Rubcn |
T |
C |
16: 32,670,091 (GRCm39) |
D88G |
probably damaging |
Het |
| Slc30a2 |
T |
C |
4: 134,073,289 (GRCm39) |
I112T |
probably damaging |
Het |
| Slc35d2 |
A |
G |
13: 64,268,419 (GRCm39) |
I78T |
probably damaging |
Het |
| Slc9a4 |
T |
A |
1: 40,658,277 (GRCm39) |
M600K |
probably damaging |
Het |
| Slfn8 |
A |
G |
11: 82,907,562 (GRCm39) |
I327T |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,060,962 (GRCm39) |
I405V |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,605,821 (GRCm39) |
S521P |
probably benign |
Het |
| Trim36 |
A |
G |
18: 46,302,407 (GRCm39) |
L535P |
probably damaging |
Het |
| Trim63 |
A |
T |
4: 134,043,842 (GRCm39) |
I102F |
probably damaging |
Het |
| Wdr47 |
G |
A |
3: 108,550,401 (GRCm39) |
V809M |
probably damaging |
Het |
|
| Other mutations in Tas2r118 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01350:Tas2r118
|
APN |
6 |
23,969,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02517:Tas2r118
|
APN |
6 |
23,969,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03387:Tas2r118
|
APN |
6 |
23,969,180 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
PIT4382001:Tas2r118
|
UTSW |
6 |
23,969,785 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0241:Tas2r118
|
UTSW |
6 |
23,969,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Tas2r118
|
UTSW |
6 |
23,969,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Tas2r118
|
UTSW |
6 |
23,969,400 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1438:Tas2r118
|
UTSW |
6 |
23,969,422 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1471:Tas2r118
|
UTSW |
6 |
23,969,170 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1632:Tas2r118
|
UTSW |
6 |
23,969,260 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2096:Tas2r118
|
UTSW |
6 |
23,969,912 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2106:Tas2r118
|
UTSW |
6 |
23,969,569 (GRCm39) |
missense |
probably benign |
|
|
R2903:Tas2r118
|
UTSW |
6 |
23,969,801 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2904:Tas2r118
|
UTSW |
6 |
23,969,801 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2905:Tas2r118
|
UTSW |
6 |
23,969,801 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3798:Tas2r118
|
UTSW |
6 |
23,969,822 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4402:Tas2r118
|
UTSW |
6 |
23,969,293 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4647:Tas2r118
|
UTSW |
6 |
23,969,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Tas2r118
|
UTSW |
6 |
23,969,225 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4965:Tas2r118
|
UTSW |
6 |
23,969,627 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5114:Tas2r118
|
UTSW |
6 |
23,969,209 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5834:Tas2r118
|
UTSW |
6 |
23,969,876 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6976:Tas2r118
|
UTSW |
6 |
23,969,470 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7335:Tas2r118
|
UTSW |
6 |
23,969,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8696:Tas2r118
|
UTSW |
6 |
23,969,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8966:Tas2r118
|
UTSW |
6 |
23,970,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9014:Tas2r118
|
UTSW |
6 |
23,970,049 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9237:Tas2r118
|
UTSW |
6 |
23,969,617 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0062:Tas2r118
|
UTSW |
6 |
23,969,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tas2r118
|
UTSW |
6 |
23,969,558 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGATGACAGCTTCGCAGACC -3'
(R):5'- AAACTGGTTCTCTGGTTGATACTG -3'
Sequencing Primer
(F):5'- CAAGATTTCTTATCAAACACAGTGCC -3'
(R):5'- GATAGCTTCTTGTTTGTCAATCATCC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation