Incidental Mutation 'IGL00577:Tas2r119'
ID |
4108 |
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 # |
IGL00577
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
32177435-32178440 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32177599 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 55
(I55T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057633]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057633
AA Change: I55T
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000050277 Gene: ENSMUSG00000045267 AA Change: I55T
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ang6 |
T |
A |
14: 44,239,458 (GRCm39) |
Y90F |
probably benign |
Het |
Arhgef6 |
T |
A |
X: 56,290,992 (GRCm39) |
|
probably null |
Het |
Ccdc88a |
A |
G |
11: 29,374,772 (GRCm39) |
E115G |
probably damaging |
Het |
Ceacam12 |
T |
A |
7: 17,801,186 (GRCm39) |
V55E |
probably damaging |
Het |
Depdc1a |
A |
T |
3: 159,228,375 (GRCm39) |
R376* |
probably null |
Het |
Dop1a |
A |
T |
9: 86,402,999 (GRCm39) |
I1398F |
probably damaging |
Het |
Eif2s1 |
T |
G |
12: 78,913,420 (GRCm39) |
N40K |
possibly damaging |
Het |
Epb41 |
T |
A |
4: 131,702,042 (GRCm39) |
H531L |
probably benign |
Het |
Frrs1 |
T |
A |
3: 116,696,049 (GRCm39) |
W523R |
probably damaging |
Het |
Gpatch8 |
T |
C |
11: 102,369,704 (GRCm39) |
D1278G |
probably damaging |
Het |
Mybpc1 |
C |
T |
10: 88,372,246 (GRCm39) |
A795T |
probably damaging |
Het |
Nrdc |
T |
C |
4: 108,903,884 (GRCm39) |
|
probably benign |
Het |
Os9 |
C |
T |
10: 126,933,845 (GRCm39) |
R524K |
probably benign |
Het |
Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
Plekha5 |
T |
A |
6: 140,515,822 (GRCm39) |
|
probably benign |
Het |
Prnp |
A |
G |
2: 131,779,031 (GRCm39) |
R228G |
probably benign |
Het |
Prrc2c |
G |
A |
1: 162,525,685 (GRCm39) |
P307L |
unknown |
Het |
Prss1 |
T |
C |
6: 41,439,645 (GRCm39) |
V126A |
possibly damaging |
Het |
Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
Setdb1 |
T |
C |
3: 95,245,888 (GRCm39) |
D678G |
probably damaging |
Het |
Sltm |
G |
T |
9: 70,486,624 (GRCm39) |
V430L |
probably damaging |
Het |
Sphkap |
A |
G |
1: 83,256,565 (GRCm39) |
S395P |
probably damaging |
Het |
Tmc3 |
A |
C |
7: 83,252,682 (GRCm39) |
E361A |
probably null |
Het |
Uggt2 |
A |
T |
14: 119,272,312 (GRCm39) |
S922T |
possibly damaging |
Het |
Znhit1 |
A |
T |
5: 137,011,437 (GRCm39) |
Y125* |
probably null |
Het |
|
Other mutations in Tas2r119 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-04-20 |