Incidental Mutation 'R3429:Tas1r2'
ID |
267990 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tas1r2
|
Ensembl Gene |
ENSMUSG00000028738 |
Gene Name |
taste receptor, type 1, member 2 |
Synonyms |
TR2, Gpr71, T1r2 |
MMRRC Submission |
040647-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R3429 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
139380849-139397591 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 139396886 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 742
(T742A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127737
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030510]
[ENSMUST00000166773]
|
AlphaFold |
Q925I4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030510
AA Change: T771A
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000030510 Gene: ENSMUSG00000028738 AA Change: T771A
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: T742A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127737 Gene: ENSMUSG00000028738 AA Change: T742A
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 |
0.1327 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
98% (65/66) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,613,249 (GRCm39) |
M1K |
probably null |
Het |
Afap1l2 |
C |
A |
19: 56,904,238 (GRCm39) |
R683L |
probably damaging |
Het |
Ankfy1 |
C |
T |
11: 72,602,980 (GRCm39) |
|
probably benign |
Het |
Aoc1 |
A |
T |
6: 48,883,010 (GRCm39) |
E295D |
probably benign |
Het |
Asah1 |
C |
T |
8: 41,804,925 (GRCm39) |
|
probably benign |
Het |
B4galnt4 |
T |
C |
7: 140,650,752 (GRCm39) |
L842P |
probably damaging |
Het |
Bhmt |
T |
C |
13: 93,763,855 (GRCm39) |
E62G |
probably damaging |
Het |
Btbd10 |
T |
A |
7: 112,951,016 (GRCm39) |
R25* |
probably null |
Het |
Cdh5 |
T |
A |
8: 104,857,600 (GRCm39) |
I342N |
possibly damaging |
Het |
Clca3a2 |
T |
A |
3: 144,512,088 (GRCm39) |
E109D |
probably benign |
Het |
Cntrl |
T |
C |
2: 35,035,112 (GRCm39) |
L913S |
probably damaging |
Het |
Col12a1 |
T |
A |
9: 79,587,593 (GRCm39) |
T1183S |
probably benign |
Het |
Col6a6 |
A |
T |
9: 105,655,166 (GRCm39) |
Y852N |
probably damaging |
Het |
Cpeb2 |
T |
C |
5: 43,438,573 (GRCm39) |
|
probably null |
Het |
Cyp2c66 |
T |
A |
19: 39,151,892 (GRCm39) |
N202K |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,405,711 (GRCm39) |
V2391A |
possibly damaging |
Het |
Dgat2 |
A |
G |
7: 98,806,300 (GRCm39) |
V299A |
probably benign |
Het |
Dnah6 |
G |
A |
6: 73,098,797 (GRCm39) |
S2034L |
possibly damaging |
Het |
Eps8l2 |
G |
A |
7: 140,937,832 (GRCm39) |
|
probably null |
Het |
Fgg |
T |
A |
3: 82,920,090 (GRCm39) |
F290I |
probably damaging |
Het |
Filip1 |
A |
T |
9: 79,760,952 (GRCm39) |
M194K |
probably damaging |
Het |
Foxl2 |
T |
C |
9: 98,838,035 (GRCm39) |
F108L |
probably damaging |
Het |
Fut1 |
T |
C |
7: 45,268,798 (GRCm39) |
F196L |
probably damaging |
Het |
Gm10323 |
A |
C |
13: 67,002,888 (GRCm39) |
W17G |
probably damaging |
Het |
Gstz1 |
T |
A |
12: 87,210,470 (GRCm39) |
|
probably null |
Het |
Hacd1 |
T |
C |
2: 14,049,586 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
T |
A |
2: 31,299,156 (GRCm39) |
L2834Q |
possibly damaging |
Het |
Hs3st3a1 |
C |
T |
11: 64,327,148 (GRCm39) |
R86W |
probably benign |
Het |
Krtap1-4 |
G |
C |
11: 99,474,020 (GRCm39) |
|
probably benign |
Het |
Lmntd2 |
A |
G |
7: 140,793,910 (GRCm39) |
V21A |
probably benign |
Het |
Lonp1 |
T |
A |
17: 56,925,337 (GRCm39) |
D485V |
probably damaging |
Het |
Mia2 |
A |
G |
12: 59,236,427 (GRCm39) |
T1346A |
possibly damaging |
Het |
Mpp2 |
T |
C |
11: 101,976,141 (GRCm39) |
T6A |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,466,866 (GRCm39) |
V1299E |
probably damaging |
Het |
Myo1d |
C |
T |
11: 80,573,236 (GRCm39) |
G197E |
probably damaging |
Het |
Nfib |
T |
C |
4: 82,416,532 (GRCm39) |
I168V |
possibly damaging |
Het |
Or2ak5 |
T |
A |
11: 58,611,097 (GRCm39) |
Y259F |
probably damaging |
Het |
Or2b7 |
A |
T |
13: 21,739,975 (GRCm39) |
C72* |
probably null |
Het |
Or2y1e |
C |
T |
11: 49,218,868 (GRCm39) |
A210V |
probably benign |
Het |
Or4c121 |
T |
A |
2: 89,023,617 (GRCm39) |
I254L |
probably benign |
Het |
Or4c29 |
C |
T |
2: 88,739,810 (GRCm39) |
R309Q |
probably benign |
Het |
Parp3 |
A |
T |
9: 106,351,922 (GRCm39) |
I150K |
probably damaging |
Het |
Pnp |
A |
G |
14: 51,185,443 (GRCm39) |
D49G |
probably benign |
Het |
Prkcq |
T |
C |
2: 11,251,781 (GRCm39) |
I206T |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rlf |
A |
G |
4: 121,007,729 (GRCm39) |
L417P |
probably benign |
Het |
Scn7a |
AT |
ATT |
2: 66,531,239 (GRCm39) |
|
probably null |
Het |
Sgce |
T |
A |
6: 4,730,008 (GRCm39) |
D72V |
probably benign |
Het |
Sh3d21 |
A |
G |
4: 126,056,625 (GRCm39) |
S66P |
probably benign |
Het |
Sost |
C |
G |
11: 101,854,865 (GRCm39) |
G148A |
probably damaging |
Het |
Sybu |
T |
C |
15: 44,609,854 (GRCm39) |
E138G |
probably damaging |
Het |
Tet3 |
A |
G |
6: 83,380,401 (GRCm39) |
V589A |
probably damaging |
Het |
Tnxb |
C |
A |
17: 34,891,605 (GRCm39) |
C649* |
probably null |
Het |
Tnxb |
A |
G |
17: 34,922,561 (GRCm39) |
Y2458C |
probably damaging |
Het |
Tsku |
T |
C |
7: 98,001,746 (GRCm39) |
N195S |
probably damaging |
Het |
Vmn1r215 |
T |
A |
13: 23,260,378 (GRCm39) |
N139K |
probably damaging |
Het |
Zfp106 |
T |
C |
2: 120,357,544 (GRCm39) |
H1117R |
probably benign |
Het |
Zfp26 |
A |
G |
9: 20,352,756 (GRCm39) |
|
probably benign |
Het |
Zfp764l1 |
T |
C |
7: 126,990,914 (GRCm39) |
T358A |
possibly damaging |
Het |
Zfp804b |
T |
A |
5: 7,230,625 (GRCm39) |
|
probably benign |
Het |
Zfr |
T |
C |
15: 12,153,006 (GRCm39) |
S546P |
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 |
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'- TTTGTGGCCTTCATCACGGC -3'
(R):5'- AATAAGCTGAAGTGTTGCGC -3'
Sequencing Primer
(F):5'- TTCATCACGGCCGTCAAG -3'
(R):5'- TTGCGCTCCGGGTAGAAAAG -3'
|
Posted On |
2015-02-18 |