Incidental Mutation 'R2904:Tas2r118'
| ID |
261577 |
| 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 |
040491-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R2904 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
23969160-23970059 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23969801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 87
(F87L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062463]
|
| AlphaFold |
P59529 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062463
AA Change: F87L
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000053700
Gene: ENSMUSG00000043865
AA Change: F87L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
297 |
4.6e-87 |
PFAM |
|
| Meta Mutation Damage Score |
0.7992 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (30/31) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
T |
C |
5: 100,957,673 (GRCm39) |
E182G |
probably benign |
Het |
| Acot4 |
C |
G |
12: 84,090,377 (GRCm39) |
T358S |
probably benign |
Het |
| Ap2a2 |
A |
G |
7: 141,199,391 (GRCm39) |
K433E |
probably damaging |
Het |
| Card11 |
T |
A |
5: 140,874,888 (GRCm39) |
D592V |
probably benign |
Het |
| Col12a1 |
G |
T |
9: 79,559,307 (GRCm39) |
S1860R |
probably damaging |
Het |
| Crisp1 |
C |
T |
17: 40,623,895 (GRCm39) |
|
probably null |
Het |
| Dzip1l |
A |
G |
9: 99,545,722 (GRCm39) |
E657G |
probably damaging |
Het |
| Gak |
T |
C |
5: 108,772,080 (GRCm39) |
N79S |
possibly damaging |
Het |
| Gm9791 |
T |
C |
3: 34,059,336 (GRCm39) |
|
noncoding transcript |
Het |
| Gmpr2 |
T |
C |
14: 55,910,215 (GRCm39) |
V15A |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,430,787 (GRCm39) |
|
probably benign |
Het |
| Ift56 |
T |
C |
6: 38,378,037 (GRCm39) |
V283A |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kdm4b |
G |
A |
17: 56,662,884 (GRCm39) |
G152S |
probably benign |
Het |
| Kdm6b |
G |
A |
11: 69,296,611 (GRCm39) |
T552I |
possibly damaging |
Het |
| Kdr |
T |
C |
5: 76,127,069 (GRCm39) |
Y307C |
probably damaging |
Het |
| Kif11 |
T |
C |
19: 37,392,103 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Madd |
C |
T |
2: 91,006,017 (GRCm39) |
V20M |
probably damaging |
Het |
| Mkrn3 |
C |
A |
7: 62,068,207 (GRCm39) |
R528L |
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,148,348 (GRCm39) |
V508A |
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,512,976 (GRCm39) |
D28G |
probably benign |
Het |
| Nlrp4b |
T |
A |
7: 10,448,294 (GRCm39) |
W166R |
probably damaging |
Het |
| Or14j2 |
A |
T |
17: 37,885,705 (GRCm39) |
L203Q |
possibly damaging |
Het |
| Or5p59 |
T |
C |
7: 107,702,806 (GRCm39) |
Y97H |
probably benign |
Het |
| Rassf10 |
A |
T |
7: 112,553,756 (GRCm39) |
D119V |
possibly damaging |
Het |
| Smarcc1 |
A |
G |
9: 110,003,043 (GRCm39) |
N378D |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,632,185 (GRCm39) |
N772S |
possibly damaging |
Het |
| Trim21 |
A |
G |
7: 102,209,178 (GRCm39) |
W282R |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,296,521 (GRCm39) |
Y447F |
possibly damaging |
Het |
| Zfp160 |
G |
A |
17: 21,245,911 (GRCm39) |
V154I |
probably benign |
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 |
|
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 |
PCR Primer
(F):5'- GGGTGACTAATTCCATCTGGATGTG -3'
(R):5'- CAAAGTTGCACAACGGTTGCAG -3'
Sequencing Primer
(F):5'- TTTAACAACAGAAGGGATGATTGAC -3'
(R):5'- CACAACGGTTGCAGTGCTATTCAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation