Incidental Mutation 'IGL00972:Tas1r2'
ID |
27333 |
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 # |
IGL00972
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
139380849-139397591 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 139387347 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 240
(R240W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127737
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030510]
[ENSMUST00000166773]
[ENSMUST00000178644]
|
AlphaFold |
Q925I4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030510
AA Change: R269W
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000030510 Gene: ENSMUSG00000028738 AA Change: R269W
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 damaging
Transcript: ENSMUST00000166773
AA Change: R240W
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000127737 Gene: ENSMUSG00000028738 AA Change: R240W
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3100002H09Rik |
A |
G |
4: 124,504,484 (GRCm39) |
F23L |
probably damaging |
Het |
Abcf3 |
A |
T |
16: 20,370,434 (GRCm39) |
M320L |
probably damaging |
Het |
Adam4 |
A |
T |
12: 81,467,423 (GRCm39) |
H399Q |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,631,660 (GRCm39) |
K140E |
probably damaging |
Het |
Atg2a |
G |
A |
19: 6,304,629 (GRCm39) |
C1162Y |
probably damaging |
Het |
Atp2b1 |
T |
A |
10: 98,850,906 (GRCm39) |
I34N |
probably damaging |
Het |
Bin1 |
A |
T |
18: 32,557,887 (GRCm39) |
E260V |
probably benign |
Het |
Birc2 |
G |
A |
9: 7,833,716 (GRCm39) |
S255L |
probably benign |
Het |
Cdc42bpa |
A |
G |
1: 179,902,249 (GRCm39) |
Q502R |
probably benign |
Het |
Cep170 |
A |
G |
1: 176,563,262 (GRCm39) |
V1584A |
probably benign |
Het |
Commd3 |
A |
T |
2: 18,679,476 (GRCm39) |
R120S |
probably benign |
Het |
Cyp39a1 |
A |
T |
17: 44,012,434 (GRCm39) |
I304L |
probably benign |
Het |
Cyp3a44 |
A |
T |
5: 145,716,534 (GRCm39) |
M352K |
possibly damaging |
Het |
Dna2 |
T |
C |
10: 62,786,602 (GRCm39) |
Y117H |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,060,140 (GRCm39) |
|
probably benign |
Het |
Dsc1 |
G |
A |
18: 20,221,420 (GRCm39) |
P685L |
probably benign |
Het |
Efna5 |
T |
A |
17: 62,920,374 (GRCm39) |
I168L |
possibly damaging |
Het |
Ephx1 |
A |
G |
1: 180,827,365 (GRCm39) |
F96S |
probably benign |
Het |
Fig4 |
A |
T |
10: 41,127,784 (GRCm39) |
I560K |
probably damaging |
Het |
Fktn |
T |
A |
4: 53,734,992 (GRCm39) |
I210N |
probably damaging |
Het |
Fmnl1 |
T |
C |
11: 103,071,781 (GRCm39) |
V96A |
probably damaging |
Het |
Gabra1 |
T |
G |
11: 42,024,453 (GRCm39) |
E407D |
probably benign |
Het |
Gm5277 |
A |
T |
3: 78,799,593 (GRCm39) |
|
noncoding transcript |
Het |
H2-M10.5 |
A |
T |
17: 37,084,227 (GRCm39) |
E63V |
possibly damaging |
Het |
Icam5 |
T |
A |
9: 20,945,993 (GRCm39) |
V275E |
probably damaging |
Het |
Kel |
G |
A |
6: 41,665,000 (GRCm39) |
A588V |
possibly damaging |
Het |
Klra5 |
T |
A |
6: 129,883,568 (GRCm39) |
E96D |
probably damaging |
Het |
Limd1 |
C |
T |
9: 123,309,141 (GRCm39) |
T280I |
probably benign |
Het |
Mul1 |
C |
A |
4: 138,165,628 (GRCm39) |
S95* |
probably null |
Het |
Nlrp4a |
T |
C |
7: 26,156,473 (GRCm39) |
S733P |
probably benign |
Het |
Ntn1 |
T |
A |
11: 68,104,098 (GRCm39) |
I517F |
possibly damaging |
Het |
Ntrk3 |
T |
A |
7: 77,897,070 (GRCm39) |
M656L |
possibly damaging |
Het |
Oacyl |
T |
G |
18: 65,858,572 (GRCm39) |
L226R |
possibly damaging |
Het |
Or1ad6 |
A |
T |
11: 50,859,946 (GRCm39) |
M34L |
probably benign |
Het |
Or4f61 |
A |
T |
2: 111,922,439 (GRCm39) |
N202K |
probably damaging |
Het |
Or5ac17 |
A |
G |
16: 59,036,829 (GRCm39) |
I49T |
probably damaging |
Het |
Pibf1 |
T |
A |
14: 99,416,885 (GRCm39) |
L486* |
probably null |
Het |
Pla2g4c |
A |
G |
7: 13,074,583 (GRCm39) |
Y253C |
probably benign |
Het |
Rims3 |
C |
A |
4: 120,748,583 (GRCm39) |
A268E |
probably benign |
Het |
Rpl12 |
T |
C |
2: 32,853,759 (GRCm39) |
I129T |
probably benign |
Het |
Rsl1 |
A |
T |
13: 67,329,862 (GRCm39) |
K103N |
probably benign |
Het |
Scn11a |
A |
T |
9: 119,623,004 (GRCm39) |
W612R |
probably benign |
Het |
Sdk2 |
G |
A |
11: 113,745,210 (GRCm39) |
T695M |
possibly damaging |
Het |
Slc17a1 |
T |
A |
13: 24,062,437 (GRCm39) |
|
probably benign |
Het |
Stam |
A |
T |
2: 14,120,779 (GRCm39) |
|
probably benign |
Het |
Tacr3 |
T |
G |
3: 134,638,116 (GRCm39) |
N424K |
probably benign |
Het |
Tle1 |
T |
C |
4: 72,040,637 (GRCm39) |
R648G |
probably damaging |
Het |
Tmem92 |
T |
C |
11: 94,673,254 (GRCm39) |
D3G |
possibly damaging |
Het |
Trip11 |
T |
C |
12: 101,860,596 (GRCm39) |
I250V |
probably null |
Het |
Tspan8 |
C |
T |
10: 115,680,044 (GRCm39) |
|
probably benign |
Het |
Vmn1r128 |
A |
G |
7: 21,084,001 (GRCm39) |
E235G |
probably benign |
Het |
Vmn1r220 |
A |
G |
13: 23,368,558 (GRCm39) |
L46P |
probably damaging |
Het |
Vmn2r9 |
T |
C |
5: 108,996,903 (GRCm39) |
E122G |
probably benign |
Het |
Zfp27 |
A |
T |
7: 29,594,383 (GRCm39) |
N527K |
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 |
IGL00952:Tas1r2
|
APN |
4 |
139,382,563 (GRCm39) |
missense |
probably benign |
0.00 |
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 |