Incidental Mutation 'IGL01593:Tas2r139'
| ID |
91642 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tas2r139
|
| Ensembl Gene |
ENSMUSG00000047102 |
| Gene Name |
taste receptor, type 2, member 139 |
| Synonyms |
mt2r34, Tas2r39 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01593
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
42117870-42118829 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 42117891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Glycine
at position 8
(W8G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057686]
|
| AlphaFold |
Q7TQA5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057686
AA Change: W8G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000062919
Gene: ENSMUSG00000047102
AA Change: W8G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
13 |
311 |
2.5e-64 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,284,279 (GRCm39) |
I310N |
probably damaging |
Het |
| Abtb3 |
T |
A |
10: 85,490,339 (GRCm39) |
|
probably benign |
Het |
| Ackr4 |
C |
T |
9: 103,963,130 (GRCm39) |
|
probably benign |
Het |
| Ankib1 |
A |
T |
5: 3,782,590 (GRCm39) |
D346E |
probably benign |
Het |
| Asap2 |
G |
T |
12: 21,263,203 (GRCm39) |
A273S |
probably null |
Het |
| Atp6v0d2 |
C |
A |
4: 19,881,436 (GRCm39) |
R219L |
probably damaging |
Het |
| Atp6v1e2 |
A |
T |
17: 87,251,727 (GRCm39) |
F224I |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,194,478 (GRCm39) |
|
probably null |
Het |
| Cd33 |
A |
G |
7: 43,179,705 (GRCm39) |
L241P |
possibly damaging |
Het |
| Clec4g |
A |
T |
8: 3,769,474 (GRCm39) |
|
probably null |
Het |
| Dym |
C |
T |
18: 75,247,852 (GRCm39) |
|
probably benign |
Het |
| Enpp5 |
A |
G |
17: 44,391,612 (GRCm39) |
T14A |
probably benign |
Het |
| Ggt1 |
T |
C |
10: 75,421,121 (GRCm39) |
|
probably null |
Het |
| Gm17541 |
T |
A |
12: 4,739,868 (GRCm39) |
|
probably benign |
Het |
| Gpr39 |
A |
T |
1: 125,605,188 (GRCm39) |
I39F |
probably benign |
Het |
| Kcnb1 |
G |
T |
2: 166,948,127 (GRCm39) |
F240L |
probably damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,788,766 (GRCm39) |
V400E |
probably damaging |
Het |
| Klhdc7a |
A |
G |
4: 139,694,125 (GRCm39) |
I274T |
probably damaging |
Het |
| Lrwd1 |
A |
T |
5: 136,163,483 (GRCm39) |
L71Q |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,528,723 (GRCm39) |
|
probably null |
Het |
| Nckap1 |
A |
T |
2: 80,350,914 (GRCm39) |
M725K |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,127,345 (GRCm39) |
K956R |
probably benign |
Het |
| Or2b7 |
T |
A |
13: 21,739,389 (GRCm39) |
I268F |
probably damaging |
Het |
| Pole2 |
C |
T |
12: 69,269,873 (GRCm39) |
|
probably null |
Het |
| Prss32 |
A |
G |
17: 24,074,982 (GRCm39) |
T111A |
probably benign |
Het |
| Rgs9 |
A |
G |
11: 109,139,875 (GRCm39) |
|
probably benign |
Het |
| Slc2a4 |
A |
G |
11: 69,835,654 (GRCm39) |
C361R |
probably damaging |
Het |
| Ston1 |
G |
A |
17: 88,944,438 (GRCm39) |
G615R |
probably null |
Het |
| Tmem101 |
A |
T |
11: 102,046,704 (GRCm39) |
L55Q |
probably damaging |
Het |
| Tnni3k |
T |
C |
3: 154,646,666 (GRCm39) |
|
probably null |
Het |
| Uba2 |
A |
G |
7: 33,845,689 (GRCm39) |
V478A |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,739,545 (GRCm39) |
D52G |
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 |
|
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 |
|
R1106:Tas2r139
|
UTSW |
6 |
42,118,479 (GRCm39) |
missense |
probably benign |
0.36 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation