Incidental Mutation 'IGL02414:Tas2r136'
| ID |
292357 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tas2r136
|
| Ensembl Gene |
ENSMUSG00000053217 |
| Gene Name |
taste receptor, type 2, member 136 |
| Synonyms |
Tas2r36, mt2r52 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL02414
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
132754142-132755125 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132754494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 211
(M211T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065532]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065532
AA Change: M211T
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000070791
Gene: ENSMUSG00000053217
AA Change: M211T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
23 |
317 |
8.4e-68 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TAS2R44 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ada |
C |
T |
2: 163,571,960 (GRCm39) |
D273N |
probably benign |
Het |
| Btbd9 |
A |
C |
17: 30,439,533 (GRCm39) |
C551W |
possibly damaging |
Het |
| Casp2 |
T |
A |
6: 42,257,380 (GRCm39) |
L443H |
probably damaging |
Het |
| Cdhr3 |
A |
G |
12: 33,092,503 (GRCm39) |
Y703H |
possibly damaging |
Het |
| Clta |
T |
C |
4: 44,030,274 (GRCm39) |
|
probably benign |
Het |
| Cstdc2 |
T |
G |
2: 148,692,598 (GRCm39) |
K68T |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,919,387 (GRCm39) |
D1120G |
probably benign |
Het |
| Ece2 |
A |
G |
16: 20,459,456 (GRCm39) |
D597G |
probably damaging |
Het |
| Etfdh |
A |
G |
3: 79,511,403 (GRCm39) |
V526A |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,633,198 (GRCm39) |
D60E |
probably benign |
Het |
| Gpr85 |
A |
T |
6: 13,836,909 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
C |
A |
13: 42,308,385 (GRCm39) |
S208R |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,283,771 (GRCm39) |
I1252T |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 118,900,804 (GRCm39) |
V835A |
possibly damaging |
Het |
| Or2d4 |
A |
T |
7: 106,543,965 (GRCm39) |
M81K |
probably benign |
Het |
| Or5ac25 |
C |
T |
16: 59,182,077 (GRCm39) |
C168Y |
probably damaging |
Het |
| Ppwd1 |
T |
G |
13: 104,359,645 (GRCm39) |
I119L |
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,451,748 (GRCm39) |
K410R |
probably damaging |
Het |
| Prm2 |
C |
T |
16: 10,609,754 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,386,874 (GRCm39) |
T166A |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,977,765 (GRCm39) |
V98A |
probably benign |
Het |
| Sdsl |
G |
A |
5: 120,600,124 (GRCm39) |
T91I |
probably damaging |
Het |
| Trim43c |
A |
T |
9: 88,723,885 (GRCm39) |
|
probably null |
Het |
| Ttc1 |
T |
C |
11: 43,630,664 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tas2r136 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00678:Tas2r136
|
APN |
6 |
132,754,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02662:Tas2r136
|
APN |
6 |
132,754,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Tas2r136
|
UTSW |
6 |
132,754,375 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0785:Tas2r136
|
UTSW |
6 |
132,754,890 (GRCm39) |
missense |
probably benign |
|
|
R1727:Tas2r136
|
UTSW |
6 |
132,754,753 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2101:Tas2r136
|
UTSW |
6 |
132,754,495 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2975:Tas2r136
|
UTSW |
6 |
132,754,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3080:Tas2r136
|
UTSW |
6 |
132,754,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3746:Tas2r136
|
UTSW |
6 |
132,754,200 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3749:Tas2r136
|
UTSW |
6 |
132,754,200 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3750:Tas2r136
|
UTSW |
6 |
132,754,200 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4362:Tas2r136
|
UTSW |
6 |
132,754,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4411:Tas2r136
|
UTSW |
6 |
132,754,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4413:Tas2r136
|
UTSW |
6 |
132,754,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4803:Tas2r136
|
UTSW |
6 |
132,754,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5283:Tas2r136
|
UTSW |
6 |
132,754,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5343:Tas2r136
|
UTSW |
6 |
132,755,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5738:Tas2r136
|
UTSW |
6 |
132,754,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5872:Tas2r136
|
UTSW |
6 |
132,754,294 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6770:Tas2r136
|
UTSW |
6 |
132,754,345 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7326:Tas2r136
|
UTSW |
6 |
132,754,869 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7845:Tas2r136
|
UTSW |
6 |
132,754,833 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7900:Tas2r136
|
UTSW |
6 |
132,754,599 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8422:Tas2r136
|
UTSW |
6 |
132,754,290 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8783:Tas2r136
|
UTSW |
6 |
132,754,612 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8899:Tas2r136
|
UTSW |
6 |
132,754,323 (GRCm39) |
missense |
probably benign |
|
|
R9126:Tas2r136
|
UTSW |
6 |
132,754,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9627:Tas2r136
|
UTSW |
6 |
132,754,948 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9642:Tas2r136
|
UTSW |
6 |
132,754,462 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9749:Tas2r136
|
UTSW |
6 |
132,755,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9765:Tas2r136
|
UTSW |
6 |
132,754,813 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2015-04-16 |
Incidental Mutation