Incidental Mutation 'R9237:Tas2r118'
| ID |
700532 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R9237 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
23969160-23970059 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23969617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 148
(Y148F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062463]
|
| AlphaFold |
P59529 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062463
AA Change: Y148F
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000053700
Gene: ENSMUSG00000043865
AA Change: Y148F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
297 |
4.6e-87 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,318,557 (GRCm39) |
N1815K |
probably damaging |
Het |
| Acat1 |
C |
A |
9: 53,494,816 (GRCm39) |
A359S |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,240,470 (GRCm39) |
N206D |
possibly damaging |
Het |
| Adgrf4 |
T |
A |
17: 42,980,782 (GRCm39) |
H101L |
probably benign |
Het |
| Ager |
T |
A |
17: 34,816,869 (GRCm39) |
M1K |
probably null |
Het |
| Akap12 |
T |
C |
10: 4,307,231 (GRCm39) |
I1452T |
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,112,934 (GRCm39) |
A1092V |
possibly damaging |
Het |
| Bnip5 |
T |
C |
17: 29,123,522 (GRCm39) |
E392G |
probably benign |
Het |
| C8b |
A |
G |
4: 104,650,481 (GRCm39) |
T430A |
probably benign |
Het |
| Dars2 |
G |
A |
1: 160,873,025 (GRCm39) |
R455W |
probably damaging |
Het |
| Erbb4 |
T |
G |
1: 68,081,601 (GRCm39) |
Q1144H |
possibly damaging |
Het |
| Exoc2 |
G |
A |
13: 31,048,858 (GRCm39) |
H732Y |
probably benign |
Het |
| Fhad1 |
T |
A |
4: 141,632,483 (GRCm39) |
M1219L |
probably benign |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gna15 |
T |
C |
10: 81,359,683 (GRCm39) |
K36E |
possibly damaging |
Het |
| Gpr156 |
C |
T |
16: 37,825,648 (GRCm39) |
Q622* |
probably null |
Het |
| Grip1 |
C |
T |
10: 119,911,310 (GRCm39) |
S1091L |
probably benign |
Het |
| H4c12 |
A |
G |
13: 21,934,534 (GRCm39) |
S48P |
probably damaging |
Het |
| Helt |
A |
G |
8: 46,745,536 (GRCm39) |
F154L |
probably benign |
Het |
| Ide |
T |
C |
19: 37,307,898 (GRCm39) |
N38S |
|
Het |
| Ighg2b |
A |
T |
12: 113,270,217 (GRCm39) |
V267E |
|
Het |
| Map3k10 |
C |
T |
7: 27,357,842 (GRCm39) |
W645* |
probably null |
Het |
| Mcrip1 |
G |
A |
11: 120,435,542 (GRCm39) |
P31L |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,810,444 (GRCm39) |
E657G |
probably benign |
Het |
| Myom1 |
C |
T |
17: 71,408,051 (GRCm39) |
T1195I |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,152,591 (GRCm39) |
V646A |
possibly damaging |
Het |
| Nlrc3 |
A |
T |
16: 3,783,073 (GRCm39) |
M128K |
probably benign |
Het |
| Nr2f6 |
A |
C |
8: 71,831,073 (GRCm39) |
C112W |
probably damaging |
Het |
| Or5af1 |
A |
T |
11: 58,722,057 (GRCm39) |
I26F |
possibly damaging |
Het |
| Or5m13b |
T |
A |
2: 85,754,267 (GRCm39) |
Y218* |
probably null |
Het |
| P2rx3 |
T |
C |
2: 84,853,896 (GRCm39) |
N139S |
probably benign |
Het |
| Pcdha11 |
T |
A |
18: 37,145,260 (GRCm39) |
N450K |
probably damaging |
Het |
| Phb1 |
T |
C |
11: 95,566,034 (GRCm39) |
I106T |
possibly damaging |
Het |
| Phyhipl |
C |
A |
10: 70,406,720 (GRCm39) |
R78L |
possibly damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,246,932 (GRCm39) |
D268G |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Rcbtb2 |
C |
A |
14: 73,411,936 (GRCm39) |
H408Q |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,096,803 (GRCm39) |
V271E |
probably damaging |
Het |
| Sptlc3 |
T |
A |
2: 139,408,605 (GRCm39) |
V240E |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,146,073 (GRCm39) |
N742S |
probably benign |
Het |
| Trmt5 |
G |
T |
12: 73,331,568 (GRCm39) |
Q163K |
probably benign |
Het |
| Ube2d1 |
T |
A |
10: 71,097,925 (GRCm39) |
I37F |
probably damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vps13b |
C |
T |
15: 35,841,479 (GRCm39) |
P2503L |
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 |
|
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 |
|
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'- TTCATCTGCACCCAGTGTTGG -3'
(R):5'- GGAAGGTATCAGTCGTCTGG -3'
Sequencing Primer
(F):5'- CAGTGTTGGACCAATGAGACTGTG -3'
(R):5'- ATCAGTCGTCTGGGAGTTCATGAAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation