Incidental Mutation 'IGL02662:Tas2r136'
| ID |
302588 |
| 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: 0.054)
|
| Stock # |
IGL02662
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
132754142-132755125 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 132754671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 152
(V152E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065532]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065532
AA Change: V152E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000070791
Gene: ENSMUSG00000053217
AA Change: V152E
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
G |
15: 64,618,744 (GRCm39) |
|
probably null |
Het |
| Ap5z1 |
G |
A |
5: 142,462,644 (GRCm39) |
|
probably null |
Het |
| Cdhr5 |
T |
G |
7: 140,854,416 (GRCm39) |
I120L |
possibly damaging |
Het |
| Chd5 |
C |
T |
4: 152,456,588 (GRCm39) |
S975F |
probably damaging |
Het |
| Cts3 |
G |
T |
13: 61,715,871 (GRCm39) |
Q132K |
probably damaging |
Het |
| Cylc2 |
T |
A |
4: 51,216,698 (GRCm39) |
|
probably benign |
Het |
| Defb39 |
A |
G |
8: 19,102,891 (GRCm39) |
V68A |
probably benign |
Het |
| Dgki |
A |
G |
6: 36,839,421 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
G |
A |
2: 5,904,783 (GRCm39) |
P867L |
probably damaging |
Het |
| Gata5 |
C |
T |
2: 179,969,544 (GRCm39) |
|
probably benign |
Het |
| Glt28d2 |
T |
A |
3: 85,779,423 (GRCm39) |
I17F |
probably damaging |
Het |
| Gstm2 |
T |
C |
3: 107,892,378 (GRCm39) |
Y82C |
possibly damaging |
Het |
| Hs6st1 |
T |
A |
1: 36,142,893 (GRCm39) |
L276* |
probably null |
Het |
| Iqgap1 |
T |
C |
7: 80,392,827 (GRCm39) |
D712G |
probably benign |
Het |
| Kdm4c |
T |
C |
4: 74,323,058 (GRCm39) |
S997P |
probably damaging |
Het |
| Ksr1 |
G |
A |
11: 78,927,551 (GRCm39) |
T289I |
probably damaging |
Het |
| Lingo4 |
T |
C |
3: 94,309,124 (GRCm39) |
|
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,153,694 (GRCm39) |
S674P |
probably damaging |
Het |
| Nek1 |
G |
A |
8: 61,557,218 (GRCm39) |
V841I |
probably benign |
Het |
| Or10a48 |
T |
C |
7: 108,424,952 (GRCm39) |
T85A |
probably benign |
Het |
| Or8i2 |
T |
C |
2: 86,852,346 (GRCm39) |
T181A |
probably benign |
Het |
| Pigx |
A |
G |
16: 31,906,201 (GRCm39) |
V40A |
probably damaging |
Het |
| Pla2g2d |
T |
G |
4: 138,506,006 (GRCm39) |
M5R |
possibly damaging |
Het |
| Ppa2 |
G |
T |
3: 133,073,644 (GRCm39) |
R234I |
probably damaging |
Het |
| Rbms1 |
A |
C |
2: 60,592,650 (GRCm39) |
L221R |
probably damaging |
Het |
| Rnasel |
C |
A |
1: 153,629,857 (GRCm39) |
N124K |
probably damaging |
Het |
| Serpinb9h |
A |
G |
13: 33,588,513 (GRCm39) |
N366S |
possibly damaging |
Het |
| Sigirr |
T |
A |
7: 140,674,707 (GRCm39) |
|
probably benign |
Het |
| Tlnrd1 |
C |
T |
7: 83,532,027 (GRCm39) |
V135M |
possibly damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,531,744 (GRCm39) |
L229S |
probably damaging |
Het |
| Top1mt |
A |
G |
15: 75,540,554 (GRCm39) |
V239A |
probably damaging |
Het |
| Tpd52 |
A |
T |
3: 9,009,775 (GRCm39) |
|
probably null |
Het |
| Trim16 |
T |
A |
11: 62,731,383 (GRCm39) |
L331Q |
possibly damaging |
Het |
| Ttll4 |
A |
G |
1: 74,726,390 (GRCm39) |
|
probably null |
Het |
| Vmn1r27 |
T |
A |
6: 58,192,272 (GRCm39) |
D244V |
probably damaging |
Het |
| Vmn2r72 |
A |
C |
7: 85,387,391 (GRCm39) |
D724E |
probably benign |
Het |
| Zfp563 |
T |
C |
17: 33,321,253 (GRCm39) |
W18R |
probably damaging |
Het |
| Zswim8 |
T |
C |
14: 20,763,142 (GRCm39) |
V347A |
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 |
|
IGL02414:Tas2r136
|
APN |
6 |
132,754,494 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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