Incidental Mutation 'IGL02585:Tas2r119'
| ID |
299513 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tas2r119
|
| Ensembl Gene |
ENSMUSG00000045267 |
| Gene Name |
taste receptor, type 2, member 119 |
| Synonyms |
mt2r19, mGR19, Tas2r19, T2R19 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02585
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
32177435-32178440 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32177679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 82
(T82A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057633]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057633
AA Change: T82A
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000050277
Gene: ENSMUSG00000045267
AA Change: T82A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
293 |
1.1e-90 |
PFAM |
|
| Coding Region Coverage |
|
| 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 and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is mapped to chromosome 5p15, the location of a genetic locus (PROP) that controls the detection of the bitter compound 6-n-propyl-2-thiouracil. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,592,121 (GRCm39) |
I603T |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,820,855 (GRCm39) |
|
probably null |
Het |
| Atp5me |
T |
C |
5: 108,581,936 (GRCm39) |
Y16C |
probably damaging |
Het |
| Ccdc122 |
A |
T |
14: 77,330,202 (GRCm39) |
|
probably benign |
Het |
| Ccdc83 |
C |
T |
7: 89,886,120 (GRCm39) |
R213Q |
probably damaging |
Het |
| Cd38 |
G |
A |
5: 44,067,644 (GRCm39) |
V292M |
probably damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,472,212 (GRCm39) |
S26P |
probably damaging |
Het |
| Gdpd1 |
A |
T |
11: 86,964,802 (GRCm39) |
M1K |
probably null |
Het |
| Inmt |
T |
A |
6: 55,150,431 (GRCm39) |
I69F |
probably damaging |
Het |
| Lrrc19 |
A |
T |
4: 94,531,562 (GRCm39) |
S17T |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,366,077 (GRCm39) |
Q1330K |
probably benign |
Het |
| Map4k3 |
C |
A |
17: 80,961,348 (GRCm39) |
|
probably benign |
Het |
| Musk |
A |
G |
4: 58,347,849 (GRCm39) |
T329A |
probably benign |
Het |
| Nhs |
T |
C |
X: 160,624,760 (GRCm39) |
E863G |
probably damaging |
Het |
| Nts |
T |
A |
10: 102,318,329 (GRCm39) |
I125F |
probably benign |
Het |
| Odr4 |
T |
A |
1: 150,239,272 (GRCm39) |
T384S |
probably damaging |
Het |
| Phip |
G |
A |
9: 82,785,241 (GRCm39) |
L825F |
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,986,828 (GRCm39) |
H889R |
possibly damaging |
Het |
| Rbm15b |
T |
C |
9: 106,763,025 (GRCm39) |
Q381R |
probably benign |
Het |
| Rtn1 |
C |
A |
12: 72,354,929 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,542,648 (GRCm39) |
L3167P |
probably damaging |
Het |
| Scfd1 |
G |
A |
12: 51,433,890 (GRCm39) |
E61K |
probably damaging |
Het |
| Sgce |
A |
G |
6: 4,711,388 (GRCm39) |
|
probably benign |
Het |
| Slc17a6 |
T |
A |
7: 51,275,097 (GRCm39) |
V52E |
probably benign |
Het |
| Slc38a11 |
T |
C |
2: 65,166,135 (GRCm39) |
D212G |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,286,571 (GRCm39) |
K356R |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ssc4d |
A |
G |
5: 135,999,192 (GRCm39) |
S4P |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,460,530 (GRCm39) |
Q2597L |
probably benign |
Het |
| Uspl1 |
C |
T |
5: 149,150,872 (GRCm39) |
Q691* |
probably null |
Het |
| Ythdf3 |
T |
C |
3: 16,243,642 (GRCm39) |
V17A |
probably benign |
Het |
| Zscan29 |
T |
A |
2: 120,994,357 (GRCm39) |
R543* |
probably null |
Het |
|
| Other mutations in Tas2r119 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Tas2r119
|
APN |
15 |
32,177,599 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01522:Tas2r119
|
APN |
15 |
32,178,339 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01548:Tas2r119
|
APN |
15 |
32,178,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01826:Tas2r119
|
APN |
15 |
32,177,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02432:Tas2r119
|
APN |
15 |
32,177,853 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2248:Tas2r119
|
UTSW |
15 |
32,178,297 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2432:Tas2r119
|
UTSW |
15 |
32,178,165 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5098:Tas2r119
|
UTSW |
15 |
32,178,228 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5624:Tas2r119
|
UTSW |
15 |
32,178,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5819:Tas2r119
|
UTSW |
15 |
32,177,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5901:Tas2r119
|
UTSW |
15 |
32,177,932 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6363:Tas2r119
|
UTSW |
15 |
32,178,034 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6495:Tas2r119
|
UTSW |
15 |
32,177,676 (GRCm39) |
missense |
probably benign |
|
|
R6521:Tas2r119
|
UTSW |
15 |
32,178,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7574:Tas2r119
|
UTSW |
15 |
32,178,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9004:Tas2r119
|
UTSW |
15 |
32,178,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9015:Tas2r119
|
UTSW |
15 |
32,178,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9193:Tas2r119
|
UTSW |
15 |
32,177,932 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0063:Tas2r119
|
UTSW |
15 |
32,178,301 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-04-16 |
Incidental Mutation