Incidental Mutation 'R3703:Tas1r2'
| ID |
258601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas1r2
|
| Ensembl Gene |
ENSMUSG00000028738 |
| Gene Name |
taste receptor, type 1, member 2 |
| Synonyms |
TR2, Gpr71, T1r2 |
| MMRRC Submission |
040696-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R3703 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
139380849-139397591 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 139394729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 495
(C495Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030510]
[ENSMUST00000166773]
[ENSMUST00000178644]
|
| AlphaFold |
Q925I4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030510
AA Change: C524Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030510
Gene: ENSMUSG00000028738
AA Change: C524Y
| 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: C495Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127737
Gene: ENSMUSG00000028738
AA Change: C495Y
| 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 |
|
| Meta Mutation Damage Score |
0.9125 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (50/50) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
C |
T |
8: 77,985,685 (GRCm39) |
|
probably null |
Het |
| Asap3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGAGGAGGA |
4: 135,968,552 (GRCm39) |
|
probably benign |
Het |
| Bcap29 |
T |
C |
12: 31,667,151 (GRCm39) |
H170R |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,041,730 (GRCm39) |
C2703S |
probably damaging |
Het |
| Brf1 |
T |
C |
12: 112,932,991 (GRCm39) |
|
probably null |
Het |
| Btnl7-ps |
T |
A |
17: 34,752,941 (GRCm39) |
|
noncoding transcript |
Het |
| Cdh12 |
C |
A |
15: 21,583,912 (GRCm39) |
T584K |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,703,608 (GRCm39) |
|
probably null |
Het |
| Col25a1 |
A |
G |
3: 130,343,682 (GRCm39) |
|
probably null |
Het |
| Csrp2 |
G |
A |
10: 110,773,735 (GRCm39) |
|
probably benign |
Het |
| Ctla2a |
T |
A |
13: 61,083,821 (GRCm39) |
D37V |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,355,754 (GRCm39) |
H1826L |
probably damaging |
Het |
| Dnajc19 |
A |
G |
3: 34,134,378 (GRCm39) |
|
probably null |
Het |
| Dxo |
T |
C |
17: 35,057,745 (GRCm39) |
|
probably benign |
Het |
| Edil3 |
A |
T |
13: 89,325,417 (GRCm39) |
M269L |
probably benign |
Het |
| Fbxl7 |
C |
A |
15: 26,543,841 (GRCm39) |
G269C |
probably damaging |
Het |
| Gpnmb |
T |
A |
6: 49,028,799 (GRCm39) |
I439N |
possibly damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Gtpbp3 |
T |
G |
8: 71,944,779 (GRCm39) |
S345A |
probably benign |
Het |
| Hnrnpul2 |
A |
G |
19: 8,801,773 (GRCm39) |
E327G |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,555,029 (GRCm39) |
Y884* |
probably null |
Het |
| Ifi47 |
T |
C |
11: 48,986,352 (GRCm39) |
S40P |
probably benign |
Het |
| Kcnq3 |
A |
G |
15: 65,893,588 (GRCm39) |
|
probably null |
Het |
| Kifc3 |
G |
A |
8: 95,830,656 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Mug1 |
C |
T |
6: 121,865,515 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,080,427 (GRCm39) |
I1214V |
probably benign |
Het |
| Naa30 |
A |
G |
14: 49,425,059 (GRCm39) |
N337S |
probably benign |
Het |
| Nap1l3 |
A |
T |
X: 121,305,221 (GRCm39) |
I499N |
possibly damaging |
Het |
| Nfat5 |
T |
A |
8: 108,078,053 (GRCm39) |
|
probably benign |
Het |
| Nisch |
A |
G |
14: 30,898,702 (GRCm39) |
|
probably benign |
Het |
| Nt5c3 |
A |
G |
6: 56,860,652 (GRCm39) |
|
probably benign |
Het |
| Pklr |
C |
T |
3: 89,050,008 (GRCm39) |
R328C |
probably damaging |
Het |
| Prrc2c |
G |
A |
1: 162,538,260 (GRCm39) |
R457C |
probably damaging |
Het |
| Rab1a |
T |
G |
11: 20,174,506 (GRCm39) |
|
probably benign |
Het |
| Rasa3 |
A |
T |
8: 13,638,972 (GRCm39) |
D278E |
probably benign |
Het |
| Rdh8 |
C |
T |
9: 20,734,629 (GRCm39) |
P99S |
probably damaging |
Het |
| Snx9 |
T |
A |
17: 5,978,475 (GRCm39) |
|
probably null |
Het |
| Spns3 |
C |
T |
11: 72,390,356 (GRCm39) |
|
probably benign |
Het |
| Sympk |
A |
G |
7: 18,774,486 (GRCm39) |
Y421C |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,851,030 (GRCm39) |
|
probably null |
Het |
| Tox3 |
G |
T |
8: 90,975,533 (GRCm39) |
T366K |
possibly damaging |
Het |
| Trdmt1 |
T |
A |
2: 13,526,108 (GRCm39) |
Q170L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,565,752 (GRCm39) |
V28200D |
probably damaging |
Het |
| Zfp616 |
G |
A |
11: 73,974,145 (GRCm39) |
W138* |
probably null |
Het |
| Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
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 |
|
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 |
|
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'- TGATGGCCGTGGGAAAGATC -3'
(R):5'- GAAACCTCTACTGGGGATTTCGC -3'
Sequencing Primer
(F):5'- TGGGAAAGATCAGGGTCCTCC -3'
(R):5'- TTTGGATACTTGCATCCCCTGGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation