Incidental Mutation 'IGL02432:Tas2r119'
| ID |
293163 |
| 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 # |
IGL02432
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
32177435-32178440 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32177853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 140
(T140A)
|
| 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: T140A
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000050277
Gene: ENSMUSG00000045267
AA Change: T140A
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
G |
A |
2: 151,314,481 (GRCm39) |
T399M |
probably benign |
Het |
| A830018L16Rik |
A |
T |
1: 11,818,303 (GRCm39) |
N321I |
probably damaging |
Het |
| Aimp1 |
T |
C |
3: 132,379,738 (GRCm39) |
T135A |
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,576,589 (GRCm39) |
M848T |
probably damaging |
Het |
| Cry2 |
T |
C |
2: 92,244,012 (GRCm39) |
D387G |
probably damaging |
Het |
| Daxx |
G |
A |
17: 34,131,311 (GRCm39) |
D413N |
probably benign |
Het |
| Gbp6 |
A |
T |
5: 105,422,228 (GRCm39) |
V492E |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,226,671 (GRCm39) |
M1358L |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,876,465 (GRCm39) |
D880E |
possibly damaging |
Het |
| Mmd2 |
A |
T |
5: 142,561,094 (GRCm39) |
I47N |
probably damaging |
Het |
| Mroh2b |
G |
A |
15: 4,943,668 (GRCm39) |
M401I |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,088,668 (GRCm39) |
K963R |
probably benign |
Het |
| Otop2 |
A |
G |
11: 115,219,988 (GRCm39) |
H276R |
probably damaging |
Het |
| Pxn |
T |
A |
5: 115,683,805 (GRCm39) |
D79E |
probably damaging |
Het |
| Rho |
G |
A |
6: 115,909,146 (GRCm39) |
V61I |
probably damaging |
Het |
| Rtp1 |
A |
G |
16: 23,250,154 (GRCm39) |
Y173C |
probably damaging |
Het |
| Slc6a17 |
T |
C |
3: 107,400,493 (GRCm39) |
D212G |
possibly damaging |
Het |
| Stpg1 |
A |
G |
4: 135,235,321 (GRCm39) |
E54G |
probably damaging |
Het |
| Traf3ip3 |
C |
T |
1: 192,866,884 (GRCm39) |
C316Y |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,371,101 (GRCm39) |
A517T |
probably damaging |
Het |
| Vmn1r30 |
T |
C |
6: 58,412,655 (GRCm39) |
N59S |
probably benign |
Het |
| Vmn2r4 |
C |
T |
3: 64,313,821 (GRCm39) |
V387M |
probably benign |
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 |
|
IGL02585:Tas2r119
|
APN |
15 |
32,177,679 (GRCm39) |
missense |
probably benign |
0.04 |
|
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