Incidental Mutation 'R4413:Tas2r136'
| ID |
328014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas2r136
|
| Ensembl Gene |
ENSMUSG00000053217 |
| Gene Name |
taste receptor, type 2, member 136 |
| Synonyms |
Tas2r36, mt2r52 |
| MMRRC Submission |
041136-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R4413 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
132754142-132755125 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 132754972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 52
(V52L)
|
| 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: V52L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000070791
Gene: ENSMUSG00000053217
AA Change: V52L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
23 |
317 |
8.4e-68 |
PFAM |
|
| Meta Mutation Damage Score |
0.5148 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
93% (42/45) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
T |
C |
8: 13,296,114 (GRCm39) |
K144E |
probably benign |
Het |
| Bcdin3d |
A |
G |
15: 99,368,614 (GRCm39) |
L195P |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,012,830 (GRCm39) |
|
probably null |
Het |
| Col11a1 |
T |
A |
3: 113,901,965 (GRCm39) |
S553R |
unknown |
Het |
| Cp |
A |
T |
3: 20,020,517 (GRCm39) |
D170V |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,915,994 (GRCm39) |
A4303T |
probably benign |
Het |
| Dpp4 |
G |
A |
2: 62,217,484 (GRCm39) |
R38C |
possibly damaging |
Het |
| Dusp6 |
C |
T |
10: 99,099,786 (GRCm39) |
T78M |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,689,866 (GRCm39) |
|
probably benign |
Het |
| Fbxl13 |
A |
T |
5: 21,787,051 (GRCm39) |
C295* |
probably null |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Gstm4 |
T |
A |
3: 107,950,644 (GRCm39) |
D85V |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,488,544 (GRCm39) |
N3612D |
possibly damaging |
Het |
| Izumo3 |
T |
C |
4: 92,035,136 (GRCm39) |
D27G |
probably damaging |
Het |
| Kcna4 |
T |
A |
2: 107,125,718 (GRCm39) |
C151S |
probably benign |
Het |
| Lrrc10 |
A |
G |
10: 116,881,719 (GRCm39) |
N131S |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,997,932 (GRCm39) |
S699P |
probably damaging |
Het |
| Mcpt4 |
A |
T |
14: 56,297,993 (GRCm39) |
V186D |
probably damaging |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,746 (GRCm39) |
|
noncoding transcript |
Het |
| Mrm1 |
G |
T |
11: 84,710,054 (GRCm39) |
R49S |
possibly damaging |
Het |
| Nav2 |
T |
A |
7: 49,047,857 (GRCm39) |
N91K |
probably benign |
Het |
| Noct |
C |
T |
3: 51,157,756 (GRCm39) |
R365W |
probably damaging |
Het |
| Ntn1 |
C |
T |
11: 68,276,736 (GRCm39) |
G71S |
probably damaging |
Het |
| Or10x1 |
T |
C |
1: 174,197,040 (GRCm39) |
S186P |
probably damaging |
Het |
| Plekhg3 |
A |
C |
12: 76,624,538 (GRCm39) |
T1127P |
probably damaging |
Het |
| Rhbdl2 |
A |
T |
4: 123,703,880 (GRCm39) |
M52L |
probably benign |
Het |
| Saxo5 |
T |
A |
8: 3,533,529 (GRCm39) |
H278Q |
probably damaging |
Het |
| Slc10a1 |
T |
C |
12: 81,004,906 (GRCm39) |
N212S |
probably benign |
Het |
| Sohlh2 |
C |
A |
3: 55,104,423 (GRCm39) |
T264K |
probably damaging |
Het |
| Srrm2 |
A |
G |
17: 24,029,442 (GRCm39) |
|
probably benign |
Het |
| Syn3 |
C |
A |
10: 85,891,456 (GRCm39) |
|
probably benign |
Het |
| Taf5 |
T |
A |
19: 47,059,453 (GRCm39) |
V199D |
probably damaging |
Het |
| Tnk2 |
C |
T |
16: 32,488,319 (GRCm39) |
R191C |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,556,120 (GRCm39) |
I21968T |
probably damaging |
Het |
| Ubxn6 |
A |
T |
17: 56,376,303 (GRCm39) |
V311E |
probably damaging |
Het |
| Usp7 |
C |
A |
16: 8,526,778 (GRCm39) |
D187Y |
probably damaging |
Het |
| Vmn1r115 |
C |
T |
7: 20,578,207 (GRCm39) |
R235K |
probably benign |
Het |
| Vmn2r50 |
A |
C |
7: 9,784,235 (GRCm39) |
F80V |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,511,360 (GRCm39) |
K481M |
possibly damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,288,469 (GRCm39) |
I344T |
possibly damaging |
Het |
| Vmn2r99 |
T |
A |
17: 19,599,522 (GRCm39) |
V402E |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,012,672 (GRCm39) |
D1546G |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGAGTATATTTGCAAGCCATG -3'
(R):5'- AATGAAGACCACATGAATCAGTGTG -3'
Sequencing Primer
(F):5'- GGTTGGTTACTATCCAGACAACAC -3'
(R):5'- CAGTGTGTTCATGAAATCACAGCC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation