Incidental Mutation 'IGL00559:Tas2r121'
| ID |
5365 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tas2r121
|
| Ensembl Gene |
ENSMUSG00000071150 |
| Gene Name |
taste receptor, type 2, member 121 |
| Synonyms |
mGR21, T2R21, Tas2r21, mT2r48 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL00559
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
132677053-132677970 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132677484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 163
(I163V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095395]
|
| AlphaFold |
Q7M720 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095395
AA Change: I163V
PolyPhen 2
Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000093044
Gene: ENSMUSG00000071150
AA Change: I163V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
300 |
4.5e-108 |
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 product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cers4 |
G |
A |
8: 4,571,216 (GRCm39) |
D262N |
probably benign |
Het |
| Cyp2d26 |
G |
A |
15: 82,675,244 (GRCm39) |
A370V |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,846,449 (GRCm39) |
M4000T |
possibly damaging |
Het |
| Enkd1 |
C |
T |
8: 106,430,974 (GRCm39) |
|
probably benign |
Het |
| H60b |
A |
G |
10: 22,161,692 (GRCm39) |
H60R |
probably benign |
Het |
| Hmgb4 |
T |
C |
4: 128,154,082 (GRCm39) |
N162S |
probably benign |
Het |
| Htt |
T |
C |
5: 35,006,448 (GRCm39) |
|
probably benign |
Het |
| Kbtbd6 |
A |
G |
14: 79,690,688 (GRCm39) |
D461G |
probably damaging |
Het |
| Nell2 |
A |
G |
15: 95,425,166 (GRCm39) |
L62P |
possibly damaging |
Het |
| Pi4k2b |
T |
A |
5: 52,908,790 (GRCm39) |
F205L |
probably damaging |
Het |
| Polr1b |
G |
T |
2: 128,955,651 (GRCm39) |
V521F |
probably damaging |
Het |
| Prn |
G |
A |
2: 131,795,335 (GRCm39) |
V152I |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,711,667 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
G |
T |
5: 17,899,858 (GRCm39) |
G450V |
probably damaging |
Het |
| Sema3d |
G |
A |
5: 12,613,189 (GRCm39) |
R422K |
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,515,501 (GRCm39) |
D16G |
probably damaging |
Het |
|
| Other mutations in Tas2r121 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01868:Tas2r121
|
APN |
6 |
132,677,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02182:Tas2r121
|
APN |
6 |
132,677,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02728:Tas2r121
|
APN |
6 |
132,677,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0833:Tas2r121
|
UTSW |
6 |
132,677,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0836:Tas2r121
|
UTSW |
6 |
132,677,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1181:Tas2r121
|
UTSW |
6 |
132,677,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1424:Tas2r121
|
UTSW |
6 |
132,677,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1583:Tas2r121
|
UTSW |
6 |
132,677,193 (GRCm39) |
nonsense |
probably null |
|
|
R2179:Tas2r121
|
UTSW |
6 |
132,677,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4711:Tas2r121
|
UTSW |
6 |
132,677,853 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5274:Tas2r121
|
UTSW |
6 |
132,677,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5308:Tas2r121
|
UTSW |
6 |
132,677,480 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5663:Tas2r121
|
UTSW |
6 |
132,677,520 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5668:Tas2r121
|
UTSW |
6 |
132,677,756 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5885:Tas2r121
|
UTSW |
6 |
132,677,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6395:Tas2r121
|
UTSW |
6 |
132,677,495 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7552:Tas2r121
|
UTSW |
6 |
132,677,505 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8094:Tas2r121
|
UTSW |
6 |
132,677,772 (GRCm39) |
missense |
probably benign |
|
|
R9192:Tas2r121
|
UTSW |
6 |
132,677,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9718:Tas2r121
|
UTSW |
6 |
132,677,765 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2012-04-20 |
Incidental Mutation