Incidental Mutation 'R0241:Tas2r118'
ID |
66179 |
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 |
038479-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R0241 (G1)
|
Quality Score |
151 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
23969160-23970059 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23969338 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 241
(Y241C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053700
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062463]
|
AlphaFold |
P59529 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062463
AA Change: Y241C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053700 Gene: ENSMUSG00000043865 AA Change: Y241C
Domain | Start | End | E-Value | Type |
Pfam:TAS2R
|
1 |
297 |
4.6e-87 |
PFAM |
|
Meta Mutation Damage Score |
0.7195 |
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 89.8%
- 20x: 65.7%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck2 |
T |
A |
6: 39,560,752 (GRCm39) |
V380E |
probably benign |
Het |
Anapc1 |
A |
T |
2: 128,470,549 (GRCm39) |
M1527K |
possibly damaging |
Het |
Bicra |
A |
T |
7: 15,709,070 (GRCm39) |
M1188K |
probably damaging |
Het |
Brd7 |
G |
A |
8: 89,072,478 (GRCm39) |
R331W |
probably benign |
Het |
Cactin |
A |
G |
10: 81,158,486 (GRCm39) |
T151A |
probably benign |
Het |
Cadps |
G |
A |
14: 12,376,675 (GRCm38) |
T1274M |
probably damaging |
Het |
Catsper3 |
T |
C |
13: 55,952,667 (GRCm39) |
M175T |
probably damaging |
Het |
Chd5 |
A |
G |
4: 152,450,589 (GRCm39) |
D605G |
probably damaging |
Het |
Chst12 |
G |
A |
5: 140,510,054 (GRCm39) |
R227H |
possibly damaging |
Het |
Cobl |
A |
T |
11: 12,204,524 (GRCm39) |
V644E |
probably benign |
Het |
Ddx31 |
A |
G |
2: 28,738,303 (GRCm39) |
T155A |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,521,953 (GRCm39) |
Q4069R |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,984,653 (GRCm39) |
I3117T |
probably damaging |
Het |
Doc2b |
A |
G |
11: 75,663,387 (GRCm39) |
V355A |
probably damaging |
Het |
Dock10 |
A |
T |
1: 80,556,340 (GRCm39) |
S578T |
probably benign |
Het |
Fcer2a |
A |
G |
8: 3,738,796 (GRCm39) |
|
probably null |
Het |
Fmnl1 |
G |
A |
11: 103,072,996 (GRCm39) |
|
probably null |
Het |
Git2 |
T |
C |
5: 114,871,290 (GRCm39) |
E208G |
probably damaging |
Het |
Hs6st3 |
T |
C |
14: 119,376,232 (GRCm39) |
F136L |
probably benign |
Het |
Hydin |
G |
A |
8: 111,124,655 (GRCm39) |
V555I |
probably benign |
Het |
Kmt2b |
A |
G |
7: 30,276,494 (GRCm39) |
L1726S |
probably damaging |
Het |
Loxl3 |
A |
G |
6: 83,027,114 (GRCm39) |
D615G |
probably damaging |
Het |
Nfasc |
C |
A |
1: 132,564,731 (GRCm39) |
A70S |
probably benign |
Het |
Or4d1 |
T |
A |
11: 87,804,860 (GRCm39) |
N291Y |
probably damaging |
Het |
Or4p21 |
A |
T |
2: 88,276,889 (GRCm39) |
M131K |
possibly damaging |
Het |
Or52n4 |
A |
G |
7: 104,294,450 (GRCm39) |
M41T |
probably benign |
Het |
Or5g29 |
A |
G |
2: 85,421,154 (GRCm39) |
K90R |
probably benign |
Het |
Pde7b |
A |
G |
10: 20,311,962 (GRCm39) |
C239R |
probably damaging |
Het |
Pdzd2 |
A |
T |
15: 12,368,027 (GRCm39) |
L2654Q |
probably damaging |
Het |
Pgap1 |
T |
C |
1: 54,575,110 (GRCm39) |
|
probably null |
Het |
Proz |
T |
A |
8: 13,115,356 (GRCm39) |
M124K |
probably benign |
Het |
Raet1d |
A |
G |
10: 22,247,328 (GRCm39) |
T135A |
probably benign |
Het |
Rapgef1 |
A |
G |
2: 29,592,682 (GRCm39) |
N558S |
possibly damaging |
Het |
Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
Simc1 |
G |
T |
13: 54,698,338 (GRCm39) |
L1319F |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,438,429 (GRCm39) |
E1499G |
possibly damaging |
Het |
Tbck |
A |
G |
3: 132,430,636 (GRCm39) |
E344G |
probably benign |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Tmbim7 |
A |
T |
5: 3,716,866 (GRCm39) |
Y66F |
probably benign |
Het |
Vil1 |
T |
C |
1: 74,465,853 (GRCm39) |
L548P |
probably damaging |
Het |
Wdr3 |
A |
G |
3: 100,052,973 (GRCm39) |
V593A |
probably damaging |
Het |
Zan |
T |
C |
5: 137,420,084 (GRCm39) |
T2858A |
unknown |
Het |
Zbtb37 |
A |
T |
1: 160,847,939 (GRCm39) |
V356E |
probably benign |
Het |
Zfp36 |
C |
T |
7: 28,077,759 (GRCm39) |
V50I |
probably damaging |
Het |
Zfp563 |
A |
T |
17: 33,323,659 (GRCm39) |
S85C |
possibly 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 |
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 |
R5823:Tas2r118
|
UTSW |
6 |
23,969,470 (GRCm39) |
missense |
probably benign |
0.04 |
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 |
|
Posted On |
2013-08-19 |