Incidental Mutation 'R4362:Tas2r136'
| ID |
324946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas2r136
|
| Ensembl Gene |
ENSMUSG00000053217 |
| Gene Name |
taste receptor, type 2, member 136 |
| Synonyms |
Tas2r36, mt2r52 |
| MMRRC Submission |
041671-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R4362 (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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (39/39) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
C |
T |
7: 28,947,687 (GRCm39) |
|
probably benign |
Het |
| Abcc6 |
A |
G |
7: 45,648,256 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
G |
A |
2: 26,894,794 (GRCm39) |
C1034Y |
probably damaging |
Het |
| Atp2b4 |
G |
T |
1: 133,667,669 (GRCm39) |
P125Q |
possibly damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,697,608 (GRCm39) |
R412H |
probably damaging |
Het |
| Bicc1 |
ATGTG |
ATG |
10: 70,779,204 (GRCm39) |
|
probably null |
Het |
| Cap1 |
G |
A |
4: 122,756,780 (GRCm39) |
P302S |
probably benign |
Het |
| Chodl |
G |
T |
16: 78,741,546 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
T |
A |
15: 8,300,229 (GRCm39) |
S3179T |
unknown |
Het |
| Cplx2 |
A |
T |
13: 54,526,630 (GRCm39) |
T13S |
probably benign |
Het |
| Dennd5a |
G |
A |
7: 109,495,550 (GRCm39) |
R1194W |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,183,214 (GRCm39) |
D68V |
probably damaging |
Het |
| Dus4l |
A |
C |
12: 31,698,827 (GRCm39) |
I59R |
probably damaging |
Het |
| Edc3 |
C |
T |
9: 57,620,829 (GRCm39) |
P50L |
probably damaging |
Het |
| Ext1 |
G |
A |
15: 52,970,987 (GRCm39) |
|
probably benign |
Het |
| Fam219a |
C |
T |
4: 41,518,844 (GRCm39) |
|
probably benign |
Het |
| Fbxl3 |
A |
T |
14: 103,329,749 (GRCm39) |
D106E |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,369,172 (GRCm39) |
N50D |
possibly damaging |
Het |
| Gins1 |
G |
A |
2: 150,751,682 (GRCm39) |
R15H |
probably damaging |
Het |
| Glrx2 |
A |
G |
1: 143,617,418 (GRCm39) |
K44R |
possibly damaging |
Het |
| Icam1 |
A |
G |
9: 20,937,608 (GRCm39) |
D215G |
possibly damaging |
Het |
| Nedd9 |
A |
T |
13: 41,471,429 (GRCm39) |
I184N |
probably damaging |
Het |
| Or10a2 |
T |
C |
7: 106,673,799 (GRCm39) |
S255P |
probably damaging |
Het |
| Or1e21 |
T |
C |
11: 73,344,391 (GRCm39) |
M216V |
probably benign |
Het |
| Otulinl |
C |
T |
15: 27,664,429 (GRCm39) |
|
probably null |
Het |
| Rhot2 |
A |
G |
17: 26,061,065 (GRCm39) |
C147R |
probably damaging |
Het |
| Saxo4 |
T |
C |
19: 10,452,385 (GRCm39) |
Y375C |
probably damaging |
Het |
| Setd4 |
T |
C |
16: 93,380,574 (GRCm39) |
|
probably null |
Het |
| Slc6a4 |
A |
G |
11: 76,907,904 (GRCm39) |
N356S |
probably damaging |
Het |
| Tmem168 |
A |
C |
6: 13,595,072 (GRCm39) |
I381S |
probably benign |
Het |
| Tnfrsf11b |
T |
A |
15: 54,119,555 (GRCm39) |
T140S |
possibly damaging |
Het |
| Ttpa |
G |
T |
4: 20,023,827 (GRCm39) |
E130* |
probably null |
Het |
| Ubr5 |
A |
G |
15: 38,078,647 (GRCm39) |
V8A |
probably damaging |
Het |
| Vmn2r18 |
C |
T |
5: 151,496,368 (GRCm39) |
C450Y |
probably damaging |
Het |
| Vmn2r32 |
A |
T |
7: 7,482,857 (GRCm39) |
L39* |
probably null |
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 |
|
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'- ATGCTGAGTATATTTGCAAGCC -3'
(R):5'- AATGAAGACCACATGAATCAGTGTG -3'
Sequencing Primer
(F):5'- GGTTGGTTACTATCCAGACAACAC -3'
(R):5'- CAGTGTGTTCATGAAATCACAGCC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation