Incidental Mutation 'IGL00952:Tas1r2'
| ID |
27292 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tas1r2
|
| Ensembl Gene |
ENSMUSG00000028738 |
| Gene Name |
taste receptor, type 1, member 2 |
| Synonyms |
TR2, Gpr71, T1r2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
IGL00952
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
139380849-139397591 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139382563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 67
(M67T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030510]
[ENSMUST00000166773]
[ENSMUST00000178644]
|
| AlphaFold |
Q925I4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030510
AA Change: M67T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000030510
Gene: ENSMUSG00000028738
AA Change: M67T
| 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 |
probably benign
Transcript: ENSMUST00000166773
AA Change: M67T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000127737
Gene: ENSMUSG00000028738
AA Change: M67T
| 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 |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
T |
G |
6: 40,941,733 (GRCm39) |
I4S |
probably benign |
Het |
| Abca8b |
A |
G |
11: 109,859,886 (GRCm39) |
|
probably null |
Het |
| Aftph |
A |
T |
11: 20,677,483 (GRCm39) |
V42E |
probably damaging |
Het |
| AI467606 |
A |
G |
7: 126,691,874 (GRCm39) |
S150G |
probably damaging |
Het |
| Art4 |
T |
C |
6: 136,831,818 (GRCm39) |
N108D |
possibly damaging |
Het |
| B9d1 |
G |
A |
11: 61,403,504 (GRCm39) |
V167I |
possibly damaging |
Het |
| Ccdc47 |
A |
T |
11: 106,094,358 (GRCm39) |
|
probably null |
Het |
| Ccdc96 |
T |
A |
5: 36,642,424 (GRCm39) |
|
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,241,638 (GRCm39) |
I670V |
probably benign |
Het |
| Col18a1 |
T |
G |
10: 76,905,813 (GRCm39) |
K909Q |
possibly damaging |
Het |
| Col8a2 |
A |
G |
4: 126,203,584 (GRCm39) |
Y59C |
probably damaging |
Het |
| Coro6 |
A |
T |
11: 77,359,291 (GRCm39) |
D288V |
probably damaging |
Het |
| Cul4a |
C |
T |
8: 13,196,562 (GRCm39) |
L739F |
probably damaging |
Het |
| Dmxl2 |
C |
T |
9: 54,324,166 (GRCm39) |
V1073I |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,160,386 (GRCm39) |
T115A |
possibly damaging |
Het |
| Fdx2 |
A |
G |
9: 20,984,558 (GRCm39) |
|
probably null |
Het |
| Flnc |
C |
T |
6: 29,459,546 (GRCm39) |
Q2549* |
probably null |
Het |
| Foxn2 |
T |
C |
17: 88,783,308 (GRCm39) |
C188R |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ilf3 |
T |
C |
9: 21,307,347 (GRCm39) |
L343P |
probably damaging |
Het |
| Itgb2l |
C |
T |
16: 96,227,950 (GRCm39) |
G518S |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,060,459 (GRCm39) |
I2486F |
probably damaging |
Het |
| Kat2a |
A |
G |
11: 100,596,977 (GRCm39) |
V681A |
probably damaging |
Het |
| Kif17 |
A |
G |
4: 137,990,019 (GRCm39) |
N69S |
possibly damaging |
Het |
| Kif26b |
G |
A |
1: 178,759,770 (GRCm39) |
D2106N |
probably damaging |
Het |
| Klf6 |
A |
G |
13: 5,911,680 (GRCm39) |
T15A |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,852,692 (GRCm39) |
T2231A |
probably benign |
Het |
| Mark4 |
T |
C |
7: 19,165,749 (GRCm39) |
T515A |
possibly damaging |
Het |
| Mast3 |
A |
T |
8: 71,233,327 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,586,201 (GRCm39) |
K722R |
probably benign |
Het |
| Ncf2 |
G |
A |
1: 152,711,857 (GRCm39) |
E524K |
probably benign |
Het |
| Or56a3b |
A |
G |
7: 104,771,614 (GRCm39) |
|
probably null |
Het |
| Or5p81 |
A |
G |
7: 108,267,445 (GRCm39) |
N274S |
possibly damaging |
Het |
| Or5w12 |
A |
T |
2: 87,502,159 (GRCm39) |
I184N |
probably damaging |
Het |
| Or8c17 |
A |
T |
9: 38,179,801 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
A |
T |
8: 118,333,956 (GRCm39) |
M910L |
probably benign |
Het |
| Pramel14 |
T |
C |
4: 143,719,894 (GRCm39) |
H157R |
probably benign |
Het |
| Rai1 |
A |
T |
11: 60,078,818 (GRCm39) |
K961* |
probably null |
Het |
| Rsph14 |
T |
C |
10: 74,865,601 (GRCm39) |
D112G |
probably benign |
Het |
| Sgo1 |
T |
A |
17: 53,994,275 (GRCm39) |
D59V |
probably damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,195,221 (GRCm39) |
V138E |
probably damaging |
Het |
| Slc9a1 |
T |
A |
4: 133,143,693 (GRCm39) |
V393D |
probably damaging |
Het |
| Smg6 |
A |
G |
11: 74,819,974 (GRCm39) |
R82G |
probably benign |
Het |
| Sppl3 |
T |
C |
5: 115,212,935 (GRCm39) |
S55P |
probably benign |
Het |
| Srsf12 |
A |
C |
4: 33,226,103 (GRCm39) |
Q122P |
possibly damaging |
Het |
| Thnsl1 |
G |
A |
2: 21,216,767 (GRCm39) |
V174I |
possibly damaging |
Het |
| Thumpd1 |
A |
G |
7: 119,316,232 (GRCm39) |
V239A |
possibly damaging |
Het |
| Tnxb |
T |
G |
17: 34,932,102 (GRCm39) |
Y2212D |
probably damaging |
Het |
| Trim40 |
T |
C |
17: 37,193,289 (GRCm39) |
*213W |
probably null |
Het |
| Ttc16 |
T |
C |
2: 32,660,259 (GRCm39) |
D183G |
probably 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 |
|
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 |
|
R8041:Tas1r2
|
UTSW |
4 |
139,387,290 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation