Incidental Mutation 'R4308:Tas2r124'
| ID |
324097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas2r124
|
| Ensembl Gene |
ENSMUSG00000060412 |
| Gene Name |
taste receptor, type 2, member 124 |
| Synonyms |
mt2r50, mGR24, Tas2r24, T2R24 |
| MMRRC Submission |
041659-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4308 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
132731693-132732622 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132731954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 88
(I88V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076150]
|
| AlphaFold |
Q7M718 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076150
AA Change: I88V
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000075509
Gene: ENSMUSG00000060412
AA Change: I88V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
298 |
2.3e-92 |
PFAM |
|
| Meta Mutation Damage Score |
0.0835 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,588,311 (GRCm39) |
T4425M |
probably damaging |
Het |
| Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,279,482 (GRCm39) |
I426T |
probably damaging |
Het |
| Ascc1 |
T |
G |
10: 59,849,434 (GRCm39) |
H108Q |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,949,156 (GRCm39) |
S2989T |
possibly damaging |
Het |
| Cfap157 |
G |
A |
2: 32,669,054 (GRCm39) |
R350W |
probably damaging |
Het |
| Cyp39a1 |
T |
A |
17: 44,041,855 (GRCm39) |
|
probably null |
Het |
| Dars2 |
A |
G |
1: 160,869,291 (GRCm39) |
S653P |
probably damaging |
Het |
| Fancm |
A |
T |
12: 65,173,305 (GRCm39) |
K1872N |
probably benign |
Het |
| Fktn |
C |
T |
4: 53,724,617 (GRCm39) |
|
probably benign |
Het |
| Gpr33 |
A |
T |
12: 52,070,423 (GRCm39) |
C205* |
probably null |
Het |
| Gsdmc2 |
A |
G |
15: 63,720,554 (GRCm39) |
|
probably benign |
Het |
| Il31 |
A |
G |
5: 123,618,769 (GRCm39) |
S6P |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 90,072,619 (GRCm39) |
K87R |
probably damaging |
Het |
| Kif15 |
T |
G |
9: 122,843,047 (GRCm39) |
H47Q |
probably benign |
Het |
| L3mbtl3 |
C |
T |
10: 26,158,690 (GRCm39) |
A653T |
unknown |
Het |
| Lamb1 |
T |
C |
12: 31,379,254 (GRCm39) |
L1737P |
probably damaging |
Het |
| Map2k5 |
C |
G |
9: 63,142,586 (GRCm39) |
R353S |
probably benign |
Het |
| Mical2 |
C |
A |
7: 111,931,199 (GRCm39) |
L721I |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,922,268 (GRCm39) |
K37E |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,864,811 (GRCm39) |
D1369G |
possibly damaging |
Het |
| Npc1 |
C |
T |
18: 12,343,584 (GRCm39) |
A470T |
possibly damaging |
Het |
| Obi1 |
T |
A |
14: 104,717,029 (GRCm39) |
N448I |
probably damaging |
Het |
| Or12e13 |
T |
C |
2: 87,663,614 (GRCm39) |
I77T |
probably damaging |
Het |
| Or14j10 |
C |
T |
17: 37,934,627 (GRCm39) |
V300I |
possibly damaging |
Het |
| Pcdhb1 |
A |
T |
18: 37,399,714 (GRCm39) |
D555V |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
| Rbm20 |
A |
G |
19: 53,831,691 (GRCm39) |
S642G |
probably damaging |
Het |
| Rnf144b |
A |
G |
13: 47,396,418 (GRCm39) |
N252D |
probably damaging |
Het |
| Rwdd2b |
A |
T |
16: 87,233,615 (GRCm39) |
W162R |
probably damaging |
Het |
| Scaf11 |
A |
G |
15: 96,344,396 (GRCm39) |
M19T |
probably benign |
Het |
| Sft2d2 |
A |
G |
1: 165,015,833 (GRCm39) |
I45T |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,341,164 (GRCm39) |
H1371Q |
unknown |
Het |
| Tasor2 |
A |
C |
13: 3,619,498 (GRCm39) |
S2244R |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,199,820 (GRCm39) |
V4568A |
possibly damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,268 (GRCm39) |
Y285* |
probably null |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
| Zfp983 |
A |
G |
17: 21,881,124 (GRCm39) |
I351V |
probably benign |
Het |
|
| Other mutations in Tas2r124 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00985:Tas2r124
|
APN |
6 |
132,732,492 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01343:Tas2r124
|
APN |
6 |
132,732,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01646:Tas2r124
|
APN |
6 |
132,732,332 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01743:Tas2r124
|
APN |
6 |
132,731,798 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02251:Tas2r124
|
APN |
6 |
132,732,524 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03081:Tas2r124
|
APN |
6 |
132,732,497 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL03309:Tas2r124
|
APN |
6 |
132,731,898 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03374:Tas2r124
|
APN |
6 |
132,732,081 (GRCm39) |
missense |
probably benign |
0.00 |
|
P0012:Tas2r124
|
UTSW |
6 |
132,732,503 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1450:Tas2r124
|
UTSW |
6 |
132,732,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1804:Tas2r124
|
UTSW |
6 |
132,732,488 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2048:Tas2r124
|
UTSW |
6 |
132,731,858 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2846:Tas2r124
|
UTSW |
6 |
132,732,230 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3415:Tas2r124
|
UTSW |
6 |
132,732,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3416:Tas2r124
|
UTSW |
6 |
132,732,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3417:Tas2r124
|
UTSW |
6 |
132,732,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4306:Tas2r124
|
UTSW |
6 |
132,731,954 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4823:Tas2r124
|
UTSW |
6 |
132,732,509 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4867:Tas2r124
|
UTSW |
6 |
132,732,156 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4949:Tas2r124
|
UTSW |
6 |
132,731,858 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5242:Tas2r124
|
UTSW |
6 |
132,732,503 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6001:Tas2r124
|
UTSW |
6 |
132,732,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6263:Tas2r124
|
UTSW |
6 |
132,731,867 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6313:Tas2r124
|
UTSW |
6 |
132,732,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6394:Tas2r124
|
UTSW |
6 |
132,732,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7685:Tas2r124
|
UTSW |
6 |
132,732,056 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8354:Tas2r124
|
UTSW |
6 |
132,732,410 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9045:Tas2r124
|
UTSW |
6 |
132,732,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9615:Tas2r124
|
UTSW |
6 |
132,732,492 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGAAGAACTGCATTGACTGG -3'
(R):5'- CAGTCTCCATGGAATTTACACTTG -3'
Sequencing Primer
(F):5'- AGAGCTCTCCACAGTTGA -3'
(R):5'- CTCTCTTCAAGAGTGATGGTTATCTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation