Incidental Mutation 'R5005:Tas2r143'
| ID |
390137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas2r143
|
| Ensembl Gene |
ENSMUSG00000046652 |
| Gene Name |
taste receptor, type 2, member 143 |
| Synonyms |
Tas2r43, mt2r36 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R5005 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
42377172-42378053 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42377658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 163
(C163S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057398]
[ENSMUST00000070178]
|
| AlphaFold |
Q7TQB9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057398
AA Change: C163S
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000057910
Gene: ENSMUSG00000046652
AA Change: C163S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
293 |
6.7e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070178
|
| SMART Domains |
Protein: ENSMUSP00000070247
Gene: ENSMUSG00000056203
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
22 |
320 |
1.3e-63 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2b1 |
T |
C |
11: 83,230,218 (GRCm39) |
V412A |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 80,774,252 (GRCm39) |
Y455C |
probably damaging |
Het |
| Bbx |
T |
C |
16: 50,086,714 (GRCm39) |
K61E |
probably damaging |
Het |
| Cd207 |
T |
C |
6: 83,651,367 (GRCm39) |
E196G |
possibly damaging |
Het |
| Chn1 |
T |
A |
2: 73,490,130 (GRCm39) |
Q49L |
possibly damaging |
Het |
| Cpd |
A |
G |
11: 76,704,396 (GRCm39) |
I406T |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,053,563 (GRCm39) |
V642I |
possibly damaging |
Het |
| Dnah7b |
C |
T |
1: 46,281,188 (GRCm39) |
L2750F |
probably damaging |
Het |
| Epyc |
A |
G |
10: 97,510,562 (GRCm39) |
T122A |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,791,358 (GRCm39) |
H567R |
probably damaging |
Het |
| Magi2 |
A |
G |
5: 20,739,444 (GRCm39) |
D729G |
probably damaging |
Het |
| Myh4 |
G |
T |
11: 67,144,241 (GRCm39) |
V1204L |
probably benign |
Het |
| Noa1 |
T |
C |
5: 77,456,873 (GRCm39) |
Y344C |
probably damaging |
Het |
| Or1j19 |
A |
G |
2: 36,677,370 (GRCm39) |
M278V |
probably benign |
Het |
| Or4c102 |
A |
G |
2: 88,422,348 (GRCm39) |
M67V |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,672,310 (GRCm39) |
S718P |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,935,647 (GRCm39) |
V1061E |
probably benign |
Het |
| Rdh16f1 |
A |
G |
10: 127,624,546 (GRCm39) |
Q128R |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,693,625 (GRCm39) |
Q705L |
probably damaging |
Het |
| Tigd2 |
A |
G |
6: 59,188,131 (GRCm39) |
T333A |
probably benign |
Het |
| Urb2 |
T |
C |
8: 124,757,920 (GRCm39) |
V1209A |
probably damaging |
Het |
| Vmn2r71 |
T |
A |
7: 85,273,352 (GRCm39) |
V722D |
probably damaging |
Het |
|
| Other mutations in Tas2r143 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02216:Tas2r143
|
APN |
6 |
42,377,268 (GRCm39) |
nonsense |
probably null |
|
|
IGL02832:Tas2r143
|
APN |
6 |
42,377,259 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0125:Tas2r143
|
UTSW |
6 |
42,377,889 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1035:Tas2r143
|
UTSW |
6 |
42,377,199 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1073:Tas2r143
|
UTSW |
6 |
42,377,694 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1400:Tas2r143
|
UTSW |
6 |
42,377,317 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1774:Tas2r143
|
UTSW |
6 |
42,377,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2391:Tas2r143
|
UTSW |
6 |
42,377,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3617:Tas2r143
|
UTSW |
6 |
42,377,997 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3693:Tas2r143
|
UTSW |
6 |
42,377,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4283:Tas2r143
|
UTSW |
6 |
42,378,007 (GRCm39) |
splice site |
probably null |
|
|
R4486:Tas2r143
|
UTSW |
6 |
42,377,628 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6360:Tas2r143
|
UTSW |
6 |
42,377,769 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7163:Tas2r143
|
UTSW |
6 |
42,377,202 (GRCm39) |
missense |
probably benign |
|
|
R7827:Tas2r143
|
UTSW |
6 |
42,377,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8899:Tas2r143
|
UTSW |
6 |
42,377,888 (GRCm39) |
nonsense |
probably null |
|
|
R8989:Tas2r143
|
UTSW |
6 |
42,377,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9264:Tas2r143
|
UTSW |
6 |
42,377,673 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCATCTTCTACTGTGTGAAG -3'
(R):5'- GGGATTTCAGAGCCATGGTATG -3'
Sequencing Primer
(F):5'- GCCATCTTCTACTGTGTGAAGATCTC -3'
(R):5'- TGCCTGAGTATGGAGATCCC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation