Incidental Mutation 'R0798:Tas1r2'
ID |
76482 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tas1r2
|
Ensembl Gene |
ENSMUSG00000028738 |
Gene Name |
taste receptor, type 1, member 2 |
Synonyms |
TR2, Gpr71, T1r2 |
MMRRC Submission |
038978-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R0798 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
139380849-139397591 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 139397024 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 788
(Y788H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127737
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030510]
[ENSMUST00000166773]
|
AlphaFold |
Q925I4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030510
AA Change: Y817H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030510 Gene: ENSMUSG00000028738 AA Change: Y817H
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: Y788H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127737 Gene: ENSMUSG00000028738 AA Change: Y788H
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 |
|
Meta Mutation Damage Score |
0.2283 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
100% (30/30) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
4930579C12Rik |
T |
A |
9: 89,034,880 (GRCm39) |
|
noncoding transcript |
Het |
Baz2a |
T |
A |
10: 127,962,192 (GRCm39) |
|
probably benign |
Het |
Bcar3 |
T |
C |
3: 122,318,948 (GRCm39) |
V695A |
probably benign |
Het |
C130074G19Rik |
G |
A |
1: 184,614,873 (GRCm39) |
|
probably benign |
Het |
Cmas |
T |
C |
6: 142,710,382 (GRCm39) |
V167A |
probably damaging |
Het |
Crppa |
G |
A |
12: 36,571,998 (GRCm39) |
R302H |
probably benign |
Het |
Cyp3a25 |
T |
C |
5: 145,928,343 (GRCm39) |
E234G |
probably damaging |
Het |
Gopc |
C |
T |
10: 52,234,907 (GRCm39) |
G79S |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,785,431 (GRCm39) |
|
probably null |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Kcnq5 |
A |
G |
1: 22,031,399 (GRCm39) |
|
probably null |
Het |
Lpp |
G |
T |
16: 24,790,622 (GRCm39) |
G29* |
probably null |
Het |
Ly6g6e |
T |
C |
17: 35,297,017 (GRCm39) |
F86S |
probably benign |
Het |
Myo5c |
T |
C |
9: 75,165,266 (GRCm39) |
F358S |
probably damaging |
Het |
Nlgn1 |
A |
G |
3: 25,488,410 (GRCm39) |
Y613H |
probably benign |
Het |
Or4k38 |
T |
C |
2: 111,165,689 (GRCm39) |
I245V |
probably benign |
Het |
Or7e178 |
A |
T |
9: 20,225,495 (GRCm39) |
Y232* |
probably null |
Het |
Plekhn1 |
T |
A |
4: 156,312,720 (GRCm39) |
D46V |
probably damaging |
Het |
Ptp4a1 |
A |
T |
1: 30,984,005 (GRCm39) |
|
probably benign |
Het |
Rab23 |
A |
T |
1: 33,773,908 (GRCm39) |
I123F |
probably damaging |
Het |
Samd4b |
G |
A |
7: 28,101,048 (GRCm39) |
|
probably benign |
Het |
Shisa4 |
G |
A |
1: 135,300,886 (GRCm39) |
|
probably benign |
Het |
Slc39a11 |
C |
T |
11: 113,414,330 (GRCm39) |
A90T |
probably benign |
Het |
Tasor |
T |
A |
14: 27,198,593 (GRCm39) |
F1308L |
probably damaging |
Het |
Tial1 |
C |
T |
7: 128,045,602 (GRCm39) |
M327I |
probably benign |
Het |
Ubr2 |
C |
T |
17: 47,280,102 (GRCm39) |
|
probably benign |
Het |
Utp4 |
T |
C |
8: 107,648,858 (GRCm39) |
S630P |
probably benign |
Het |
Vmn1r212 |
T |
C |
13: 23,067,868 (GRCm39) |
N155S |
probably damaging |
Het |
Zmym6 |
C |
T |
4: 126,997,316 (GRCm39) |
P312S |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTACTCTTCAACACCAGCATGGAC -3'
(R):5'- CATCCTTGGAGCCACATAGGTCAC -3'
Sequencing Primer
(F):5'- AGCATGGACTTGCTGCTG -3'
(R):5'- GTAGGTCCTAGCCAGTGAAC -3'
|
Posted On |
2013-10-16 |