Incidental Mutation 'R8041:Tas1r2'
| ID |
618513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas1r2
|
| Ensembl Gene |
ENSMUSG00000028738 |
| Gene Name |
taste receptor, type 1, member 2 |
| Synonyms |
TR2, Gpr71, T1r2 |
| MMRRC Submission |
067478-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R8041 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
139380849-139397591 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 139387290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 250
(N250Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030510]
[ENSMUST00000166773]
[ENSMUST00000178644]
|
| AlphaFold |
Q925I4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030510
AA Change: N250Y
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000030510
Gene: ENSMUSG00000028738
AA Change: N250Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
459 |
2e-90 |
PFAM |
|
Pfam:NCD3G
|
495 |
548 |
2.4e-17 |
PFAM |
|
Pfam:7tm_3
|
581 |
818 |
2.8e-33 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166773
AA Change: N221Y
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127737
Gene: ENSMUSG00000028738
AA Change: N221Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
213 |
5.3e-38 |
PFAM |
|
Pfam:ANF_receptor
|
217 |
429 |
8.4e-31 |
PFAM |
|
Pfam:NCD3G
|
466 |
519 |
7.4e-19 |
PFAM |
|
Pfam:7tm_3
|
550 |
790 |
3e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178644
|
| SMART Domains |
Protein: ENSMUSP00000136776
Gene: ENSMUSG00000094439
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1lbva_
|
1 |
60 |
5e-3 |
SMART |
|
Pfam:Filament
|
165 |
253 |
7.3e-13 |
PFAM |
|
low complexity region
|
255 |
268 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice show diminished behavioral and nervous responses to sweet tastants. Response to umami tastants is unimpaired. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l1 |
A |
T |
18: 61,891,754 (GRCm39) |
L21Q |
probably damaging |
Het |
| Ago1 |
G |
A |
4: 126,335,729 (GRCm39) |
R661C |
probably damaging |
Het |
| Albfm1 |
T |
A |
5: 90,740,864 (GRCm39) |
|
probably null |
Het |
| Aoc3 |
T |
C |
11: 101,223,132 (GRCm39) |
V456A |
probably benign |
Het |
| Aopep |
G |
C |
13: 63,180,921 (GRCm39) |
W294C |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,547,311 (GRCm39) |
F1223L |
probably damaging |
Het |
| Ccdc40 |
T |
C |
11: 119,122,507 (GRCm39) |
F33S |
possibly damaging |
Het |
| Ccnjl |
T |
C |
11: 43,470,538 (GRCm39) |
V102A |
probably damaging |
Het |
| Cd48 |
T |
C |
1: 171,526,958 (GRCm39) |
V128A |
probably damaging |
Het |
| Cmah |
A |
G |
13: 24,652,601 (GRCm39) |
D577G |
probably benign |
Het |
| Cnnm4 |
A |
G |
1: 36,511,174 (GRCm39) |
K134R |
probably benign |
Het |
| Cntnap5a |
T |
A |
1: 116,187,209 (GRCm39) |
Y594N |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,318,626 (GRCm39) |
E1375G |
unknown |
Het |
| Comtd1 |
T |
A |
14: 21,897,985 (GRCm39) |
E153V |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,404,395 (GRCm39) |
T2716S |
probably benign |
Het |
| Ddx4 |
A |
T |
13: 112,762,928 (GRCm39) |
S143T |
probably benign |
Het |
| Dlg1 |
A |
G |
16: 31,656,885 (GRCm39) |
D593G |
possibly damaging |
Het |
| Dok6 |
A |
G |
18: 89,578,213 (GRCm39) |
I68T |
possibly damaging |
Het |
| Dpysl5 |
A |
G |
5: 30,953,658 (GRCm39) |
I563V |
probably benign |
Het |
| Eapp |
A |
G |
12: 54,739,650 (GRCm39) |
S56P |
probably damaging |
Het |
| Efcab3 |
T |
G |
11: 104,810,305 (GRCm39) |
D3147E |
unknown |
Het |
| Fgd5 |
A |
T |
6: 92,038,837 (GRCm39) |
D1157V |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,194,939 (GRCm39) |
L213Q |
unknown |
Het |
| Foxo1 |
T |
A |
3: 52,253,044 (GRCm39) |
Y402* |
probably null |
Het |
| Fyb2 |
C |
A |
4: 104,857,681 (GRCm39) |
F619L |
possibly damaging |
Het |
| Gtf2i |
A |
T |
5: 134,322,599 (GRCm39) |
|
probably null |
Het |
| Hrh1 |
G |
A |
6: 114,456,878 (GRCm39) |
R53H |
not run |
Het |
| Hydin |
A |
T |
8: 111,301,626 (GRCm39) |
M3786L |
probably benign |
Het |
| Ifi207 |
T |
C |
1: 173,555,268 (GRCm39) |
R805G |
possibly damaging |
Het |
| Igfn1 |
C |
A |
1: 135,895,797 (GRCm39) |
G1590* |
probably null |
Het |
| Jph3 |
A |
C |
8: 122,516,201 (GRCm39) |
I740L |
probably benign |
Het |
| Kbtbd7 |
T |
A |
14: 79,666,144 (GRCm39) |
F659I |
probably benign |
Het |
| Kcns2 |
A |
T |
15: 34,839,291 (GRCm39) |
Q218L |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,537,398 (GRCm39) |
N1119S |
probably benign |
Het |
| Krit1 |
A |
T |
5: 3,857,309 (GRCm39) |
H38L |
probably benign |
Het |
| Krt20 |
T |
A |
11: 99,328,663 (GRCm39) |
R87S |
probably damaging |
Het |
| Ly6g5c |
A |
G |
17: 35,330,808 (GRCm39) |
E110G |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,454,707 (GRCm39) |
F1035S |
probably damaging |
Het |
| Mmp13 |
A |
T |
9: 7,280,865 (GRCm39) |
D416V |
probably benign |
Het |
| Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,352,768 (GRCm39) |
L566* |
probably null |
Het |
| Or12d17 |
T |
C |
17: 37,777,540 (GRCm39) |
F148L |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,096,488 (GRCm39) |
C95* |
probably null |
Het |
| Or51ai2 |
T |
C |
7: 103,586,788 (GRCm39) |
L67P |
probably damaging |
Het |
| Or5p69 |
T |
C |
7: 107,966,741 (GRCm39) |
F15L |
probably damaging |
Het |
| Pcdhb19 |
T |
C |
18: 37,630,367 (GRCm39) |
L54P |
possibly damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,259,519 (GRCm39) |
F1272S |
probably damaging |
Het |
| Pml |
C |
A |
9: 58,141,968 (GRCm39) |
R288L |
probably benign |
Het |
| Reep4 |
T |
C |
14: 70,785,627 (GRCm39) |
Y186H |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,356,702 (GRCm39) |
T89A |
possibly damaging |
Het |
| Shc1 |
T |
C |
3: 89,330,260 (GRCm39) |
S175P |
probably damaging |
Het |
| Sipa1l3 |
A |
G |
7: 29,063,645 (GRCm39) |
S1156P |
probably damaging |
Het |
| Slc1a3 |
G |
A |
15: 8,665,683 (GRCm39) |
P522L |
probably benign |
Het |
| Slc6a17 |
T |
A |
3: 107,381,744 (GRCm39) |
T446S |
probably damaging |
Het |
| Tex15 |
G |
T |
8: 34,065,874 (GRCm39) |
R1768L |
probably damaging |
Het |
| Ttll9 |
G |
C |
2: 152,844,956 (GRCm39) |
Q441H |
possibly damaging |
Het |
| Unc5c |
T |
A |
3: 141,171,545 (GRCm39) |
V24E |
possibly damaging |
Het |
| Unc79 |
A |
G |
12: 103,054,726 (GRCm39) |
E888G |
probably benign |
Het |
| Vmn2r19 |
T |
C |
6: 123,312,750 (GRCm39) |
S607P |
possibly damaging |
Het |
| Vsig1 |
C |
T |
X: 139,833,875 (GRCm39) |
H232Y |
probably benign |
Het |
| Wdfy4 |
A |
G |
14: 32,875,965 (GRCm39) |
|
probably null |
Het |
| Zbtb49 |
T |
C |
5: 38,358,198 (GRCm39) |
D685G |
possibly damaging |
Het |
|
| Other mutations in Tas1r2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00911:Tas1r2
|
APN |
4 |
139,387,602 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00952:Tas1r2
|
APN |
4 |
139,382,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00972:Tas1r2
|
APN |
4 |
139,387,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01939:Tas1r2
|
APN |
4 |
139,396,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02247:Tas1r2
|
APN |
4 |
139,396,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02663:Tas1r2
|
APN |
4 |
139,387,593 (GRCm39) |
missense |
probably benign |
|
|
IGL03155:Tas1r2
|
APN |
4 |
139,396,467 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0395:Tas1r2
|
UTSW |
4 |
139,382,665 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0798:Tas1r2
|
UTSW |
4 |
139,397,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1221:Tas1r2
|
UTSW |
4 |
139,396,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1223:Tas1r2
|
UTSW |
4 |
139,387,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1261:Tas1r2
|
UTSW |
4 |
139,382,599 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1262:Tas1r2
|
UTSW |
4 |
139,382,599 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1330:Tas1r2
|
UTSW |
4 |
139,396,640 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1466:Tas1r2
|
UTSW |
4 |
139,396,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Tas1r2
|
UTSW |
4 |
139,396,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1879:Tas1r2
|
UTSW |
4 |
139,397,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2112:Tas1r2
|
UTSW |
4 |
139,382,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2156:Tas1r2
|
UTSW |
4 |
139,396,352 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2509:Tas1r2
|
UTSW |
4 |
139,387,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:Tas1r2
|
UTSW |
4 |
139,387,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2511:Tas1r2
|
UTSW |
4 |
139,387,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3429:Tas1r2
|
UTSW |
4 |
139,396,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:Tas1r2
|
UTSW |
4 |
139,396,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3703:Tas1r2
|
UTSW |
4 |
139,394,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4105:Tas1r2
|
UTSW |
4 |
139,387,363 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4106:Tas1r2
|
UTSW |
4 |
139,387,363 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4107:Tas1r2
|
UTSW |
4 |
139,387,363 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4614:Tas1r2
|
UTSW |
4 |
139,387,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4811:Tas1r2
|
UTSW |
4 |
139,396,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5314:Tas1r2
|
UTSW |
4 |
139,382,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5461:Tas1r2
|
UTSW |
4 |
139,387,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5639:Tas1r2
|
UTSW |
4 |
139,387,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5703:Tas1r2
|
UTSW |
4 |
139,394,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6176:Tas1r2
|
UTSW |
4 |
139,396,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6297:Tas1r2
|
UTSW |
4 |
139,389,361 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6441:Tas1r2
|
UTSW |
4 |
139,396,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6748:Tas1r2
|
UTSW |
4 |
139,396,922 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6863:Tas1r2
|
UTSW |
4 |
139,397,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6975:Tas1r2
|
UTSW |
4 |
139,397,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7106:Tas1r2
|
UTSW |
4 |
139,389,360 (GRCm39) |
missense |
probably benign |
|
|
R7265:Tas1r2
|
UTSW |
4 |
139,396,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7580:Tas1r2
|
UTSW |
4 |
139,387,056 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7651:Tas1r2
|
UTSW |
4 |
139,396,938 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8530:Tas1r2
|
UTSW |
4 |
139,389,460 (GRCm39) |
missense |
probably benign |
|
|
R8747:Tas1r2
|
UTSW |
4 |
139,387,318 (GRCm39) |
missense |
probably benign |
|
|
R8824:Tas1r2
|
UTSW |
4 |
139,381,074 (GRCm39) |
splice site |
probably benign |
|
|
R8904:Tas1r2
|
UTSW |
4 |
139,394,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8906:Tas1r2
|
UTSW |
4 |
139,397,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9315:Tas1r2
|
UTSW |
4 |
139,381,046 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9336:Tas1r2
|
UTSW |
4 |
139,389,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9419:Tas1r2
|
UTSW |
4 |
139,387,036 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9776:Tas1r2
|
UTSW |
4 |
139,396,208 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Z1088:Tas1r2
|
UTSW |
4 |
139,387,735 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACATATAGCGCCATCACCG -3'
(R):5'- AGGACTCAGAGGCAATCCAC -3'
Sequencing Primer
(F):5'- TCACCGACAAGCTGCGAG -3'
(R):5'- GAGGCAATCCACACAAAGCCTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation