Incidental Mutation 'R1106:Tas2r139'
| ID |
98472 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas2r139
|
| Ensembl Gene |
ENSMUSG00000047102 |
| Gene Name |
taste receptor, type 2, member 139 |
| Synonyms |
mt2r34, Tas2r39 |
| MMRRC Submission |
039179-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1106 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
42117870-42118829 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42118479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 204
(T204A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057686]
|
| AlphaFold |
Q7TQA5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057686
AA Change: T204A
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000062919
Gene: ENSMUSG00000047102
AA Change: T204A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
13 |
311 |
2.5e-64 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a bitter taste receptor that detects green tea catechins, soy isoflavones, and theaflavins. The encoded protein is gustducin-linked and may activate alpha gustducin. This gene is intronless. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asic5 |
C |
A |
3: 81,911,897 (GRCm39) |
F122L |
probably damaging |
Het |
| Caml |
A |
G |
13: 55,772,538 (GRCm39) |
T61A |
probably benign |
Het |
| Cfap20 |
A |
T |
8: 96,147,873 (GRCm39) |
I156N |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dio2 |
A |
G |
12: 90,704,985 (GRCm39) |
L25P |
probably damaging |
Het |
| Eps8 |
G |
A |
6: 137,491,322 (GRCm39) |
P352L |
probably damaging |
Het |
| Gnai2 |
A |
G |
9: 107,497,385 (GRCm39) |
I3T |
probably damaging |
Het |
| Hexim2 |
T |
C |
11: 103,029,319 (GRCm39) |
S124P |
probably damaging |
Het |
| Klk1b16 |
C |
T |
7: 43,788,937 (GRCm39) |
R57C |
probably damaging |
Het |
| Mier3 |
A |
T |
13: 111,844,763 (GRCm39) |
D205V |
probably damaging |
Het |
| Or2y14 |
A |
G |
11: 49,404,519 (GRCm39) |
D18G |
probably damaging |
Het |
| Or4c102 |
T |
C |
2: 88,422,355 (GRCm39) |
V69A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 22,965,748 (GRCm39) |
D192G |
probably damaging |
Het |
| Samd3 |
G |
A |
10: 26,147,689 (GRCm39) |
V455M |
possibly damaging |
Het |
| Slc9c1 |
C |
A |
16: 45,376,170 (GRCm39) |
Q419K |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,643,180 (GRCm39) |
E4181K |
possibly damaging |
Het |
| Vps37a |
T |
A |
8: 40,965,247 (GRCm39) |
I33N |
probably damaging |
Het |
| Zfp335 |
TTGCTGCTGCTGCTGCTGCT |
TTGCTGCTGCTGCTGCT |
2: 164,749,471 (GRCm39) |
|
probably benign |
Het |
| Zik1 |
G |
A |
7: 10,224,312 (GRCm39) |
R262C |
probably damaging |
Het |
|
| Other mutations in Tas2r139 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00863:Tas2r139
|
APN |
6 |
42,118,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01593:Tas2r139
|
APN |
6 |
42,117,891 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01835:Tas2r139
|
APN |
6 |
42,118,366 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02990:Tas2r139
|
APN |
6 |
42,118,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0517:Tas2r139
|
UTSW |
6 |
42,118,425 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1352:Tas2r139
|
UTSW |
6 |
42,117,874 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4352:Tas2r139
|
UTSW |
6 |
42,118,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4632:Tas2r139
|
UTSW |
6 |
42,118,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Tas2r139
|
UTSW |
6 |
42,118,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Tas2r139
|
UTSW |
6 |
42,118,500 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5888:Tas2r139
|
UTSW |
6 |
42,118,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6796:Tas2r139
|
UTSW |
6 |
42,118,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8058:Tas2r139
|
UTSW |
6 |
42,118,753 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8075:Tas2r139
|
UTSW |
6 |
42,118,154 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8319:Tas2r139
|
UTSW |
6 |
42,118,720 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9087:Tas2r139
|
UTSW |
6 |
42,118,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9185:Tas2r139
|
UTSW |
6 |
42,118,099 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9803:Tas2r139
|
UTSW |
6 |
42,118,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATGTTCTTCAGCAAGCACAAGTTC -3'
(R):5'- AGTGGATGTCACGAGTCACATAAACAG -3'
Sequencing Primer
(F):5'- TTCACTGTGAACAACAACAATTCTC -3'
(R):5'- GAGACTGAAGATGCTTCCATGTTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation