Incidental Mutation 'R4174:Tas2r122'
| ID |
318234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas2r122
|
| Ensembl Gene |
ENSMUSG00000078280 |
| Gene Name |
taste receptor, type 2, member 122 |
| Synonyms |
Tas2r22, mGR22, T2R22 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.047)
|
| Stock # |
R4174 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
132687962-132688891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132688839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 18
(I18T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105077]
|
| AlphaFold |
D3YU55 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105077
AA Change: I18T
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000100699
Gene: ENSMUSG00000078280
AA Change: I18T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
302 |
2.3e-73 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
T |
C |
1: 38,247,008 (GRCm39) |
H859R |
probably damaging |
Het |
| Agap2 |
T |
C |
10: 126,926,383 (GRCm39) |
V876A |
probably damaging |
Het |
| Akip1 |
C |
T |
7: 109,306,716 (GRCm39) |
Q138* |
probably null |
Het |
| Cep70 |
T |
C |
9: 99,128,366 (GRCm39) |
|
probably benign |
Het |
| Ddx23 |
G |
A |
15: 98,556,132 (GRCm39) |
S62F |
unknown |
Het |
| Gabrp |
A |
G |
11: 33,518,092 (GRCm39) |
I72T |
probably damaging |
Het |
| Gpsm2 |
C |
T |
3: 108,609,825 (GRCm39) |
A102T |
probably damaging |
Het |
| Metap2 |
A |
G |
10: 93,715,427 (GRCm39) |
C112R |
possibly damaging |
Het |
| Or4c58 |
T |
G |
2: 89,675,122 (GRCm39) |
D65A |
probably damaging |
Het |
| Or8b42 |
T |
A |
9: 38,342,316 (GRCm39) |
I246K |
probably damaging |
Het |
| Pde12 |
A |
T |
14: 26,390,144 (GRCm39) |
D188E |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,719,031 (GRCm39) |
|
probably null |
Het |
| Rreb1 |
T |
A |
13: 38,114,126 (GRCm39) |
L495Q |
possibly damaging |
Het |
| Slc12a5 |
T |
C |
2: 164,821,410 (GRCm39) |
I275T |
probably damaging |
Het |
| Tdrkh |
A |
G |
3: 94,335,540 (GRCm39) |
T378A |
possibly damaging |
Het |
| Ubr1 |
C |
T |
2: 120,777,103 (GRCm39) |
|
probably null |
Het |
| Zglp1 |
A |
G |
9: 20,977,366 (GRCm39) |
F150L |
possibly damaging |
Het |
|
| Other mutations in Tas2r122 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01712:Tas2r122
|
APN |
6 |
132,688,725 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02478:Tas2r122
|
APN |
6 |
132,688,578 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02605:Tas2r122
|
APN |
6 |
132,688,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02646:Tas2r122
|
APN |
6 |
132,688,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02716:Tas2r122
|
APN |
6 |
132,688,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0318:Tas2r122
|
UTSW |
6 |
132,688,795 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0462:Tas2r122
|
UTSW |
6 |
132,688,141 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0532:Tas2r122
|
UTSW |
6 |
132,688,791 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0538:Tas2r122
|
UTSW |
6 |
132,688,778 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0570:Tas2r122
|
UTSW |
6 |
132,688,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Tas2r122
|
UTSW |
6 |
132,688,065 (GRCm39) |
nonsense |
probably null |
|
|
R1966:Tas2r122
|
UTSW |
6 |
132,688,157 (GRCm39) |
nonsense |
probably null |
|
|
R2001:Tas2r122
|
UTSW |
6 |
132,688,585 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3500:Tas2r122
|
UTSW |
6 |
132,688,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3871:Tas2r122
|
UTSW |
6 |
132,688,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5533:Tas2r122
|
UTSW |
6 |
132,688,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5567:Tas2r122
|
UTSW |
6 |
132,688,335 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6455:Tas2r122
|
UTSW |
6 |
132,688,626 (GRCm39) |
nonsense |
probably null |
|
|
R6716:Tas2r122
|
UTSW |
6 |
132,688,860 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8812:Tas2r122
|
UTSW |
6 |
132,688,702 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9139:Tas2r122
|
UTSW |
6 |
132,688,779 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9720:Tas2r122
|
UTSW |
6 |
132,688,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGCACGTTGTACAGGC -3'
(R):5'- GAGCATACATTTAGGGTTTTACAGAGG -3'
Sequencing Primer
(F):5'- ATGCACGTTGTACAGGCTATGC -3'
(R):5'- GTTTTACAGAGGTATTCATTGCCC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation