Incidental Mutation 'R2846:Tas2r124'
ID |
251591 |
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 |
040439-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R2846 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
132731693-132732622 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 132732230 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 180
(N180D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075509
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076150]
|
AlphaFold |
Q7M718 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076150
AA Change: N180D
PolyPhen 2
Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000075509 Gene: ENSMUSG00000060412 AA Change: N180D
Domain | Start | End | E-Value | Type |
Pfam:TAS2R
|
1 |
298 |
2.3e-92 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
Cdnf |
T |
A |
2: 3,514,165 (GRCm39) |
M1K |
probably null |
Het |
Ddx4 |
T |
A |
13: 112,741,146 (GRCm39) |
K496M |
probably damaging |
Het |
Dlg1 |
T |
C |
16: 31,682,015 (GRCm39) |
S779P |
probably damaging |
Het |
Dtna |
T |
A |
18: 23,784,560 (GRCm39) |
|
probably null |
Het |
Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
Gal3st2c |
A |
T |
1: 93,924,122 (GRCm39) |
Q8L |
possibly damaging |
Het |
Hsd3b1 |
T |
C |
3: 98,760,094 (GRCm39) |
E299G |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,245,746 (GRCm39) |
V2153A |
probably benign |
Het |
Irs4 |
C |
A |
X: 140,507,336 (GRCm39) |
G287W |
probably damaging |
Het |
Kif21a |
T |
C |
15: 90,818,667 (GRCm39) |
I1570V |
probably benign |
Het |
Kremen1 |
GG |
GGGCG |
11: 5,151,793 (GRCm39) |
|
probably benign |
Het |
Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
Mindy4 |
T |
C |
6: 55,255,085 (GRCm39) |
V521A |
probably damaging |
Het |
Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
Or1e25 |
A |
T |
11: 73,494,209 (GRCm39) |
T268S |
probably benign |
Het |
Pdgfrb |
C |
T |
18: 61,197,088 (GRCm39) |
P175S |
probably benign |
Het |
Pign |
C |
A |
1: 105,585,521 (GRCm39) |
L9F |
possibly damaging |
Het |
Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
Ppfia3 |
C |
A |
7: 45,005,852 (GRCm39) |
R348L |
probably damaging |
Het |
Prr12 |
G |
C |
7: 44,695,436 (GRCm39) |
S1343R |
unknown |
Het |
Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
Qpct |
A |
G |
17: 79,378,171 (GRCm39) |
T114A |
probably damaging |
Het |
Sec24d |
A |
G |
3: 123,144,395 (GRCm39) |
D624G |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,623,792 (GRCm39) |
Y259C |
probably damaging |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Smarcb1 |
C |
A |
10: 75,733,375 (GRCm39) |
R332L |
probably damaging |
Het |
Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
St18 |
T |
A |
1: 6,915,811 (GRCm39) |
C819S |
probably damaging |
Het |
Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
Tmem204 |
G |
A |
17: 25,299,307 (GRCm39) |
H71Y |
probably benign |
Het |
Vmn1r212 |
A |
G |
13: 23,068,262 (GRCm39) |
S24P |
probably damaging |
Het |
Vmn2r6 |
A |
G |
3: 64,464,211 (GRCm39) |
S208P |
possibly damaging |
Het |
Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
Zmiz1 |
A |
G |
14: 25,646,099 (GRCm39) |
S259G |
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 |
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 |
R4308: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'- GGAGAATAAAGCAACTGATTGTCC -3'
(R):5'- TGATTCTTCTGAGCAACCCATG -3'
Sequencing Primer
(F):5'- TCCACATGCTTCTGGGAAG -3'
(R):5'- CTTCTGAGCAACCCATGATATAAG -3'
|
Posted On |
2014-12-04 |