Incidental Mutation 'R1221:Tas1r2'
| ID |
100070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas1r2
|
| Ensembl Gene |
ENSMUSG00000028738 |
| Gene Name |
taste receptor, type 1, member 2 |
| Synonyms |
TR2, Gpr71, T1r2 |
| MMRRC Submission |
039290-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R1221 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
139380849-139397591 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139396436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 592
(M592V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030510]
[ENSMUST00000166773]
|
| AlphaFold |
Q925I4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030510
AA Change: M621V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030510
Gene: ENSMUSG00000028738
AA Change: M621V
| 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: M592V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127737
Gene: ENSMUSG00000028738
AA Change: M592V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,942,460 (GRCm39) |
S668P |
unknown |
Het |
| Anks1 |
A |
G |
17: 28,269,616 (GRCm39) |
Q770R |
possibly damaging |
Het |
| Apc2 |
G |
A |
10: 80,142,214 (GRCm39) |
V378I |
probably damaging |
Het |
| Apeh |
A |
G |
9: 107,969,808 (GRCm39) |
V184A |
probably benign |
Het |
| AU018091 |
A |
G |
7: 3,208,717 (GRCm39) |
F404S |
probably damaging |
Het |
| Bap1 |
T |
C |
14: 30,979,608 (GRCm39) |
L537P |
probably damaging |
Het |
| Bhlha15 |
A |
G |
5: 144,128,341 (GRCm39) |
Y151C |
probably damaging |
Het |
| Bmp8b |
A |
T |
4: 123,008,504 (GRCm39) |
T157S |
probably damaging |
Het |
| Btbd1 |
G |
T |
7: 81,468,005 (GRCm39) |
H172N |
possibly damaging |
Het |
| C1rl |
A |
G |
6: 124,470,940 (GRCm39) |
R83G |
probably benign |
Het |
| Cep104 |
A |
G |
4: 154,072,902 (GRCm39) |
T387A |
probably benign |
Het |
| Cfi |
A |
T |
3: 129,666,618 (GRCm39) |
Q447L |
probably damaging |
Het |
| Cimap1a |
G |
T |
7: 140,428,296 (GRCm39) |
W10L |
probably damaging |
Het |
| Coq6 |
A |
G |
12: 84,418,301 (GRCm39) |
E295G |
possibly damaging |
Het |
| Dclre1a |
T |
C |
19: 56,519,700 (GRCm39) |
T978A |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,051,985 (GRCm39) |
D582G |
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,776,952 (GRCm39) |
T65A |
probably benign |
Het |
| Dock5 |
G |
A |
14: 67,996,610 (GRCm39) |
S1711L |
probably benign |
Het |
| Drc3 |
A |
C |
11: 60,275,052 (GRCm39) |
I338L |
probably benign |
Het |
| Dsc1 |
A |
T |
18: 20,247,599 (GRCm39) |
C5* |
probably null |
Het |
| F5 |
A |
G |
1: 163,989,368 (GRCm39) |
Y90C |
probably damaging |
Het |
| Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
| Gm136 |
G |
T |
4: 34,744,127 (GRCm39) |
A239E |
possibly damaging |
Het |
| Gm4952 |
A |
T |
19: 12,601,059 (GRCm39) |
D93V |
possibly damaging |
Het |
| Gramd1c |
T |
C |
16: 43,810,227 (GRCm39) |
T454A |
possibly damaging |
Het |
| Gstm6 |
A |
G |
3: 107,848,418 (GRCm39) |
I58T |
probably damaging |
Het |
| Kdm3b |
C |
T |
18: 34,941,298 (GRCm39) |
S263L |
possibly damaging |
Het |
| Kdm5b |
G |
C |
1: 134,526,829 (GRCm39) |
S317T |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,777,546 (GRCm39) |
R71G |
possibly damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,072,290 (GRCm39) |
P518S |
probably benign |
Het |
| Nme5 |
A |
T |
18: 34,704,575 (GRCm39) |
I90N |
probably damaging |
Het |
| Nrxn1 |
T |
A |
17: 90,950,722 (GRCm39) |
T478S |
probably damaging |
Het |
| Or8g22 |
A |
C |
9: 38,958,483 (GRCm39) |
D77E |
probably damaging |
Het |
| Osmr |
G |
A |
15: 6,853,042 (GRCm39) |
Q617* |
probably null |
Het |
| Pcsk5 |
T |
C |
19: 17,814,512 (GRCm39) |
D2G |
possibly damaging |
Het |
| Pdpn |
G |
A |
4: 143,000,608 (GRCm39) |
R75C |
probably damaging |
Het |
| Pidd1 |
A |
T |
7: 141,018,725 (GRCm39) |
F842Y |
probably damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,719 (GRCm39) |
V255E |
probably benign |
Het |
| Sema3a |
A |
G |
5: 13,566,190 (GRCm39) |
Q158R |
probably benign |
Het |
| Setbp1 |
T |
A |
18: 78,899,798 (GRCm39) |
R1290W |
probably damaging |
Het |
| Slc20a1 |
G |
A |
2: 129,050,324 (GRCm39) |
G494D |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,889,584 (GRCm39) |
E151G |
possibly damaging |
Het |
| Stt3b |
A |
G |
9: 115,086,567 (GRCm39) |
F351L |
probably benign |
Het |
| Tbcd |
A |
G |
11: 121,387,909 (GRCm39) |
T347A |
probably benign |
Het |
| Tmem109 |
C |
A |
19: 10,851,733 (GRCm39) |
R37L |
possibly damaging |
Het |
| Tmem67 |
G |
A |
4: 12,045,871 (GRCm39) |
S862L |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,781,857 (GRCm39) |
D1017V |
probably damaging |
Het |
| Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,644,813 (GRCm39) |
S1130G |
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 |
|
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'- GCTTTACTCAATCACGGTGGGAGG -3'
(R):5'- TGGTAACGCATCCAGAAACCGTAG -3'
Sequencing Primer
(F):5'- GTCCTACTGACAGGAGTTGC -3'
(R):5'- CCATCTTGAAGACGCACACA -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation