Incidental Mutation 'R5317:Tas2r140'
| ID |
405868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas2r140
|
| Ensembl Gene |
ENSMUSG00000071147 |
| Gene Name |
taste receptor, type 2, member 140 |
| Synonyms |
TRB5, mt2r64, Tas2r40, Tas2r13, mTRB3, TRB3, T2R40 |
| MMRRC Submission |
042900-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5317 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
133031818-133032756 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133032543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 72
(Y72H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095391]
|
| AlphaFold |
Q7TQA4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095391
AA Change: Y72H
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000093040
Gene: ENSMUSG00000071147
AA Change: Y72H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
301 |
6.7e-86 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arih1 |
A |
C |
9: 59,300,619 (GRCm39) |
H542Q |
probably benign |
Het |
| Ccn4 |
T |
G |
15: 66,789,131 (GRCm39) |
S206A |
probably benign |
Het |
| Cnot8 |
T |
C |
11: 58,004,029 (GRCm39) |
S155P |
probably damaging |
Het |
| Dcc |
C |
T |
18: 71,517,226 (GRCm39) |
E810K |
possibly damaging |
Het |
| Dmrt2 |
T |
C |
19: 25,650,844 (GRCm39) |
V10A |
probably benign |
Het |
| Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
| Eif4a3 |
G |
T |
11: 119,185,490 (GRCm39) |
H117N |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,370,141 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
A |
11: 97,228,671 (GRCm39) |
Q1161H |
probably damaging |
Het |
| Grm1 |
T |
G |
10: 10,622,443 (GRCm39) |
M427L |
possibly damaging |
Het |
| Grxcr2 |
T |
A |
18: 42,131,916 (GRCm39) |
H51L |
probably damaging |
Het |
| Il1rn |
C |
T |
2: 24,239,554 (GRCm39) |
T150I |
probably benign |
Het |
| Kcnc4 |
C |
T |
3: 107,366,055 (GRCm39) |
R51H |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,125,822 (GRCm39) |
S160P |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,504,971 (GRCm39) |
I2332M |
possibly damaging |
Het |
| Mcm9 |
G |
A |
10: 53,414,330 (GRCm39) |
P250L |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtmr2 |
T |
C |
9: 13,704,475 (GRCm39) |
F201L |
probably benign |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pan3 |
T |
C |
5: 147,480,020 (GRCm39) |
|
probably null |
Het |
| Pcdhgb7 |
T |
A |
18: 37,885,887 (GRCm39) |
D352E |
probably benign |
Het |
| Pdgfa |
A |
G |
5: 138,974,102 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
C |
1: 20,520,528 (GRCm39) |
D1938G |
probably damaging |
Het |
| Plac8 |
C |
T |
5: 100,704,345 (GRCm39) |
|
probably null |
Het |
| Rab11fip3 |
T |
C |
17: 26,287,052 (GRCm39) |
E367G |
possibly damaging |
Het |
| Sgo2a |
C |
T |
1: 58,054,683 (GRCm39) |
P289L |
probably benign |
Het |
| Slc22a18 |
T |
C |
7: 143,052,896 (GRCm39) |
Y374H |
probably damaging |
Het |
| Slco2a1 |
T |
C |
9: 102,956,778 (GRCm39) |
V530A |
probably benign |
Het |
| Spty2d1 |
A |
T |
7: 46,648,049 (GRCm39) |
S293R |
possibly damaging |
Het |
| Stt3b |
G |
T |
9: 115,081,578 (GRCm39) |
Y569* |
probably null |
Het |
| Usp35 |
C |
T |
7: 96,960,846 (GRCm39) |
R860H |
probably damaging |
Het |
| Vmn2r130 |
T |
A |
17: 23,282,557 (GRCm39) |
M79K |
probably benign |
Het |
| Vsig10l |
T |
C |
7: 43,114,247 (GRCm39) |
S190P |
probably damaging |
Het |
| Wwc2 |
C |
T |
8: 48,300,590 (GRCm39) |
D958N |
unknown |
Het |
| Zfp318 |
AAGAAGG |
A |
17: 46,723,463 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tas2r140 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Tas2r140
|
APN |
6 |
40,468,274 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL00951:Tas2r140
|
APN |
6 |
40,468,913 (GRCm39) |
nonsense |
probably null |
|
|
IGL00980:Tas2r140
|
APN |
6 |
40,468,352 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02055:Tas2r140
|
APN |
6 |
40,468,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03101:Tas2r140
|
APN |
6 |
40,468,764 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0149:Tas2r140
|
UTSW |
6 |
40,468,232 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0244:Tas2r140
|
UTSW |
6 |
133,032,290 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0361:Tas2r140
|
UTSW |
6 |
40,468,232 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0666:Tas2r140
|
UTSW |
6 |
133,032,405 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0755:Tas2r140
|
UTSW |
6 |
40,468,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1174:Tas2r140
|
UTSW |
6 |
133,031,834 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1237:Tas2r140
|
UTSW |
6 |
133,032,171 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1553:Tas2r140
|
UTSW |
6 |
133,032,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2030:Tas2r140
|
UTSW |
6 |
133,032,213 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2030:Tas2r140
|
UTSW |
6 |
40,469,154 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3123:Tas2r140
|
UTSW |
6 |
133,032,204 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3124:Tas2r140
|
UTSW |
6 |
133,032,204 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4233:Tas2r140
|
UTSW |
6 |
133,031,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4234:Tas2r140
|
UTSW |
6 |
133,031,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4236:Tas2r140
|
UTSW |
6 |
133,031,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4525:Tas2r140
|
UTSW |
6 |
133,032,207 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4803:Tas2r140
|
UTSW |
6 |
133,032,743 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4840:Tas2r140
|
UTSW |
6 |
133,032,528 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4885:Tas2r140
|
UTSW |
6 |
40,468,334 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5092:Tas2r140
|
UTSW |
6 |
40,468,200 (GRCm39) |
missense |
probably benign |
|
|
R5182:Tas2r140
|
UTSW |
6 |
40,468,866 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5937:Tas2r140
|
UTSW |
6 |
133,032,236 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5952:Tas2r140
|
UTSW |
6 |
40,468,476 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6142:Tas2r140
|
UTSW |
6 |
133,032,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7127:Tas2r140
|
UTSW |
6 |
133,031,922 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7143:Tas2r140
|
UTSW |
6 |
133,032,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7178:Tas2r140
|
UTSW |
6 |
133,032,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7494:Tas2r140
|
UTSW |
6 |
40,468,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7513:Tas2r140
|
UTSW |
6 |
40,469,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7875:Tas2r140
|
UTSW |
6 |
40,469,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7979:Tas2r140
|
UTSW |
6 |
40,468,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8804:Tas2r140
|
UTSW |
6 |
133,032,326 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9029:Tas2r140
|
UTSW |
6 |
133,032,181 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9055:Tas2r140
|
UTSW |
6 |
133,032,380 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9257:Tas2r140
|
UTSW |
6 |
40,468,592 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9385:Tas2r140
|
UTSW |
6 |
133,032,241 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9530:Tas2r140
|
UTSW |
6 |
133,032,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9760:Tas2r140
|
UTSW |
6 |
40,469,036 (GRCm39) |
missense |
probably benign |
0.41 |
|
X0022:Tas2r140
|
UTSW |
6 |
40,468,275 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGAAGTGACATCAATAGTGTTAC -3'
(R):5'- GCATCTCCTGGTGATAATGAATGC -3'
Sequencing Primer
(F):5'- GACATCAATAGTGTTACTGAAACCAC -3'
(R):5'- CTCCTGGTGATAATGAATGCTACTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation