Incidental Mutation 'R8824:Tas1r2'
| ID |
690359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas1r2
|
| Ensembl Gene |
ENSMUSG00000028738 |
| Gene Name |
taste receptor, type 1, member 2 |
| Synonyms |
TR2, Gpr71, T1r2 |
| MMRRC Submission |
068657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R8824 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
139380849-139397591 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 139381074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030510]
[ENSMUST00000039818]
[ENSMUST00000166773]
[ENSMUST00000178644]
|
| AlphaFold |
Q925I4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030510
|
| SMART Domains |
Protein: ENSMUSP00000030510
Gene: ENSMUSG00000028738
| 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: ENSMUST00000039818
|
| SMART Domains |
Protein: ENSMUSP00000043821
Gene: ENSMUSG00000028737
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:Aldedh
|
73 |
546 |
7.6e-104 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166773
|
| SMART Domains |
Protein: ENSMUSP00000127737
Gene: ENSMUSG00000028738
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (63/63) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
A |
T |
2: 93,693,195 (GRCm39) |
V260D |
probably damaging |
Het |
| Adora2a |
G |
A |
10: 75,162,013 (GRCm39) |
A51T |
probably damaging |
Het |
| Afg1l |
G |
A |
10: 42,314,383 (GRCm39) |
P128S |
possibly damaging |
Het |
| Ago4 |
C |
A |
4: 126,400,977 (GRCm39) |
V623L |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,753,787 (GRCm39) |
N112K |
|
Het |
| C1ra |
A |
T |
6: 124,494,654 (GRCm39) |
I306F |
probably damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,822,222 (GRCm39) |
N724D |
possibly damaging |
Het |
| Cd248 |
A |
G |
19: 5,119,645 (GRCm39) |
I498V |
probably benign |
Het |
| Clrn1 |
A |
T |
3: 58,792,314 (GRCm39) |
S50T |
probably benign |
Het |
| Col7a1 |
A |
G |
9: 108,796,093 (GRCm39) |
K1553R |
unknown |
Het |
| Cxcr6 |
A |
C |
9: 123,640,006 (GRCm39) |
T343P |
probably benign |
Het |
| Cyp11b2 |
T |
A |
15: 74,727,914 (GRCm39) |
Q56L |
probably damaging |
Het |
| Dip2a |
A |
G |
10: 76,114,320 (GRCm39) |
|
probably null |
Het |
| Dnmbp |
A |
G |
19: 43,838,276 (GRCm39) |
V742A |
probably benign |
Het |
| Dusp16 |
A |
T |
6: 134,716,732 (GRCm39) |
S192T |
probably benign |
Het |
| Ehbp1 |
A |
T |
11: 22,182,053 (GRCm39) |
D87E |
probably damaging |
Het |
| Fgl1 |
A |
G |
8: 41,652,748 (GRCm39) |
V150A |
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,271,673 (GRCm39) |
D873G |
probably damaging |
Het |
| Gart |
T |
C |
16: 91,427,591 (GRCm39) |
D469G |
possibly damaging |
Het |
| Gm28168 |
T |
G |
1: 117,875,625 (GRCm39) |
S85A |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,736,051 (GRCm39) |
D1807G |
probably benign |
Het |
| Grm8 |
A |
G |
6: 27,761,351 (GRCm39) |
L291S |
probably damaging |
Het |
| Gucy2d |
C |
T |
7: 98,092,676 (GRCm39) |
P18S |
possibly damaging |
Het |
| Ifna15 |
C |
T |
4: 88,475,998 (GRCm39) |
C162Y |
probably damaging |
Het |
| Iqub |
C |
A |
6: 24,479,307 (GRCm39) |
E412* |
probably null |
Het |
| Krt4 |
T |
A |
15: 101,829,077 (GRCm39) |
D312V |
|
Het |
| Krtap26-1 |
T |
C |
16: 88,444,324 (GRCm39) |
Y99C |
probably damaging |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,303 (GRCm39) |
I106N |
probably damaging |
Het |
| Lipn |
T |
C |
19: 34,062,116 (GRCm39) |
I357T |
probably benign |
Het |
| Lrrc14b |
A |
G |
13: 74,512,068 (GRCm39) |
L4P |
probably damaging |
Het |
| Mrgpra9 |
A |
T |
7: 46,885,041 (GRCm39) |
C209S |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,472,301 (GRCm39) |
N1291D |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,074,328 (GRCm39) |
T746A |
probably damaging |
Het |
| Myom2 |
A |
C |
8: 15,164,169 (GRCm39) |
E1021D |
possibly damaging |
Het |
| Ncoa2 |
C |
T |
1: 13,247,409 (GRCm39) |
R338H |
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,195,821 (GRCm39) |
F91L |
|
Het |
| Neb |
C |
G |
2: 52,106,923 (GRCm39) |
A4407P |
probably damaging |
Het |
| Or10u4 |
C |
T |
10: 129,801,661 (GRCm39) |
V297M |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,625,203 (GRCm39) |
Y290F |
probably damaging |
Het |
| Or4b1b |
A |
G |
2: 90,126,356 (GRCm39) |
I283T |
probably damaging |
Het |
| Or5d47 |
A |
G |
2: 87,804,347 (GRCm39) |
F221L |
probably benign |
Het |
| Or5p76 |
T |
G |
7: 108,122,350 (GRCm39) |
Y269S |
probably benign |
Het |
| Or5w12 |
T |
C |
2: 87,502,304 (GRCm39) |
M136V |
possibly damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Piwil4 |
C |
A |
9: 14,638,771 (GRCm39) |
K298N |
probably benign |
Het |
| Prkcz |
G |
A |
4: 155,429,285 (GRCm39) |
|
probably benign |
Het |
| Prkg2 |
G |
A |
5: 99,090,067 (GRCm39) |
P691L |
possibly damaging |
Het |
| Ptprc |
T |
A |
1: 138,041,446 (GRCm39) |
K89* |
probably null |
Het |
| Rapgef3 |
C |
T |
15: 97,664,789 (GRCm39) |
A25T |
probably benign |
Het |
| Rreb1 |
C |
T |
13: 38,114,492 (GRCm39) |
T617I |
probably damaging |
Het |
| Rsph1 |
A |
C |
17: 31,492,350 (GRCm39) |
V72G |
possibly damaging |
Het |
| Shc2 |
A |
G |
10: 79,473,536 (GRCm39) |
V50A |
probably benign |
Het |
| Slc38a9 |
G |
A |
13: 112,838,021 (GRCm39) |
R262H |
probably benign |
Het |
| Slco6c1 |
T |
A |
1: 97,055,884 (GRCm39) |
N6Y |
possibly damaging |
Het |
| Smarca5 |
A |
G |
8: 81,431,961 (GRCm39) |
F886L |
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,630,680 (GRCm39) |
|
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,007,113 (GRCm39) |
|
probably benign |
Het |
| Trim55 |
T |
C |
3: 19,727,126 (GRCm39) |
S398P |
probably benign |
Het |
| Ttc39c |
T |
A |
18: 12,820,003 (GRCm39) |
|
probably benign |
Het |
| Ubxn10 |
A |
G |
4: 138,463,178 (GRCm39) |
|
probably null |
Het |
| Usf3 |
A |
G |
16: 44,035,976 (GRCm39) |
N152S |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,533,445 (GRCm39) |
V839E |
probably damaging |
Het |
| Zeb1 |
T |
A |
18: 5,748,680 (GRCm39) |
|
probably benign |
Het |
| Zfp780b |
T |
C |
7: 27,662,893 (GRCm39) |
Y554C |
probably benign |
Het |
| Zhx2 |
C |
T |
15: 57,684,676 (GRCm39) |
T15I |
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 |
|
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 |
|
|
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'- ATCGTCTAAGGCTGTTACTTGGC -3'
(R):5'- CTAGCAGGCTGGATCTAGGATTG -3'
Sequencing Primer
(F):5'- AGGCGAGGACACTCCATTTG -3'
(R):5'- GGGGGTTGGCACAGATC -3'
|
| Posted On |
2021-12-16 |
Incidental Mutation