Incidental Mutation 'R2975:Tas2r136'
| ID |
255344 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2975 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
T |
C |
2: 22,847,099 (GRCm39) |
N251D |
probably damaging |
Het |
| Cdca3 |
A |
T |
6: 124,807,616 (GRCm39) |
|
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fut8 |
T |
C |
12: 77,411,787 (GRCm39) |
V83A |
probably benign |
Het |
| Gnb1l |
T |
C |
16: 18,383,016 (GRCm39) |
S352P |
probably damaging |
Het |
| Hmgxb3 |
A |
T |
18: 61,296,038 (GRCm39) |
Y323* |
probably null |
Het |
| Katna1 |
A |
T |
10: 7,619,473 (GRCm39) |
K160N |
probably benign |
Het |
| Kif7 |
C |
A |
7: 79,360,008 (GRCm39) |
A410S |
probably damaging |
Het |
| Mrpl43 |
T |
C |
19: 44,994,498 (GRCm39) |
|
probably null |
Het |
| Muc6 |
T |
A |
7: 141,216,951 (GRCm39) |
E2574V |
possibly damaging |
Het |
| Naip6 |
A |
G |
13: 100,424,695 (GRCm39) |
V1199A |
probably damaging |
Het |
| Ntn4 |
A |
G |
10: 93,480,753 (GRCm39) |
Y122C |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,232,345 (GRCm39) |
I225T |
probably damaging |
Het |
| Rrp1b |
T |
A |
17: 32,277,547 (GRCm39) |
V609E |
probably damaging |
Het |
| Scube1 |
T |
C |
15: 83,543,299 (GRCm39) |
T180A |
probably damaging |
Het |
| Tas2r138 |
A |
G |
6: 40,590,198 (GRCm39) |
I16T |
probably benign |
Het |
| Traf3ip2 |
A |
C |
10: 39,502,536 (GRCm39) |
Q228P |
probably benign |
Het |
| Vmn2r54 |
A |
G |
7: 12,369,919 (GRCm39) |
M48T |
possibly damaging |
Het |
| Washc5 |
T |
C |
15: 59,217,207 (GRCm39) |
N787D |
probably damaging |
Het |
| Zbed6 |
T |
C |
1: 133,585,975 (GRCm39) |
Y454C |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTGAGTATATTTGCAAGCCATG -3'
(R):5'- TGAAGACCACATGAATCAGTGTG -3'
Sequencing Primer
(F):5'- GGTTGGTTACTATCCAGACAACAC -3'
(R):5'- CAGTGTGTTCATGAAATCACAGCC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation