Incidental Mutation 'R2975:Tas2r138'
| ID |
255342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas2r138
|
| Ensembl Gene |
ENSMUSG00000058250 |
| Gene Name |
taste receptor, type 2, member 138 |
| Synonyms |
T2R138, mt2r31, Tas2r38 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2975 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
40589249-40590244 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40590198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 16
(I16T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076565]
|
| AlphaFold |
Q7TQA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076565
AA Change: I16T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000075876
Gene: ENSMUSG00000058250
AA Change: I16T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
11 |
315 |
3.8e-64 |
PFAM |
|
| 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.] This gene encodes a seven-transmembrane G protein-coupled receptor that controls the ability to taste glucosinolates, a family of bitter-tasting compounds found in plants of the Brassica sp. Synthetic compounds phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) have been identified as ligands for this receptor and have been used to test the genetic diversity of this gene. Although several allelic forms of this gene have been identified worldwide, there are two predominant common forms (taster and non-taster) found outside of Africa. These alleles differ at three nucleotide positions resulting in amino acid changes in the protein (A49P, A262V, and V296I) with the amino acid combination PAV identifying the taster variant (and AVI identifying the non-taster variant). [provided by RefSeq, Oct 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 |
| Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
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 Tas2r138 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00550:Tas2r138
|
APN |
6 |
40,589,520 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01468:Tas2r138
|
APN |
6 |
40,589,410 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02626:Tas2r138
|
APN |
6 |
40,589,649 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL03008:Tas2r138
|
APN |
6 |
40,590,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0595:Tas2r138
|
UTSW |
6 |
40,589,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2845:Tas2r138
|
UTSW |
6 |
40,589,701 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4202:Tas2r138
|
UTSW |
6 |
40,589,410 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4923:Tas2r138
|
UTSW |
6 |
40,589,820 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5526:Tas2r138
|
UTSW |
6 |
40,589,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6647:Tas2r138
|
UTSW |
6 |
40,589,733 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6869:Tas2r138
|
UTSW |
6 |
40,589,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8781:Tas2r138
|
UTSW |
6 |
40,589,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8786:Tas2r138
|
UTSW |
6 |
40,589,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9200:Tas2r138
|
UTSW |
6 |
40,589,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9258:Tas2r138
|
UTSW |
6 |
40,590,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9475:Tas2r138
|
UTSW |
6 |
40,589,392 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCTTTCATCTGCTGGAAGC -3'
(R):5'- CCTCCAGGTTTCCTATTGGG -3'
Sequencing Primer
(F):5'- CTGGAAGCAGGCGAGCTG -3'
(R):5'- ATTTGGGTTCATAAGGGGAAATTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation