Incidental Mutation 'R6297:Tas1r2'
ID |
508831 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tas1r2
|
Ensembl Gene |
ENSMUSG00000028738 |
Gene Name |
taste receptor, type 1, member 2 |
Synonyms |
TR2, Gpr71, T1r2 |
MMRRC Submission |
044464-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R6297 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
139380849-139397591 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 139389361 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 419
(M419K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127737
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030510]
[ENSMUST00000166773]
[ENSMUST00000178644]
|
AlphaFold |
Q925I4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030510
AA Change: M448K
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000030510 Gene: ENSMUSG00000028738 AA Change: M448K
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 |
possibly damaging
Transcript: ENSMUST00000166773
AA Change: M419K
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127737 Gene: ENSMUSG00000028738 AA Change: M419K
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 |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
98% (45/46) |
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 |
Abca4 |
T |
C |
3: 121,926,179 (GRCm39) |
V1205A |
probably benign |
Het |
Adgra3 |
G |
A |
5: 50,118,189 (GRCm39) |
P1120S |
probably benign |
Het |
Ate1 |
A |
G |
7: 130,105,570 (GRCm39) |
V316A |
probably damaging |
Het |
Bpifa1 |
A |
G |
2: 153,986,180 (GRCm39) |
I102V |
probably benign |
Het |
Catsperb |
A |
G |
12: 101,557,655 (GRCm39) |
|
probably null |
Het |
Ccdc47 |
T |
C |
11: 106,094,427 (GRCm39) |
Y324C |
probably damaging |
Het |
Cdh22 |
T |
C |
2: 164,985,564 (GRCm39) |
K341E |
possibly damaging |
Het |
Cenpb |
A |
G |
2: 131,020,289 (GRCm39) |
|
probably benign |
Het |
Dgkd |
A |
G |
1: 87,853,866 (GRCm39) |
I570V |
possibly damaging |
Het |
Dhx32 |
A |
T |
7: 133,344,529 (GRCm39) |
Y27N |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,852,144 (GRCm39) |
D1824G |
possibly damaging |
Het |
Fbxo8 |
T |
A |
8: 57,022,323 (GRCm39) |
C112S |
probably damaging |
Het |
Fndc3a |
T |
C |
14: 72,800,980 (GRCm39) |
D590G |
probably damaging |
Het |
Gm19965 |
T |
A |
1: 116,750,410 (GRCm39) |
I697N |
possibly damaging |
Het |
Greb1l |
G |
A |
18: 10,469,494 (GRCm39) |
D170N |
probably damaging |
Het |
Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
Igfn1 |
A |
T |
1: 135,892,399 (GRCm39) |
|
probably null |
Het |
Ighg2b |
T |
C |
12: 113,270,512 (GRCm39) |
E206G |
unknown |
Het |
Ints15 |
A |
T |
5: 143,293,787 (GRCm39) |
L230Q |
possibly damaging |
Het |
Lman2 |
T |
C |
13: 55,496,244 (GRCm39) |
N267S |
probably damaging |
Het |
Lrfn5 |
A |
T |
12: 61,890,348 (GRCm39) |
I546F |
probably benign |
Het |
Lrrc4c |
T |
C |
2: 97,459,964 (GRCm39) |
S197P |
probably damaging |
Het |
Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
Mdga2 |
A |
G |
12: 66,553,027 (GRCm39) |
Y793H |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,730,054 (GRCm39) |
R2799* |
probably null |
Het |
Mup13 |
T |
A |
4: 61,181,634 (GRCm39) |
I148F |
probably benign |
Het |
Or2aj5 |
A |
C |
16: 19,424,680 (GRCm39) |
V246G |
possibly damaging |
Het |
Or5m10 |
A |
G |
2: 85,717,159 (GRCm39) |
N5S |
probably benign |
Het |
Or8g53 |
A |
T |
9: 39,683,522 (GRCm39) |
D191E |
possibly damaging |
Het |
Pdgfra |
A |
G |
5: 75,334,135 (GRCm39) |
K403E |
possibly damaging |
Het |
Pigz |
A |
T |
16: 31,763,755 (GRCm39) |
Y271F |
probably damaging |
Het |
Plekhg4 |
T |
C |
8: 106,104,472 (GRCm39) |
L517P |
probably damaging |
Het |
Rnf20 |
T |
C |
4: 49,642,132 (GRCm39) |
L232P |
probably damaging |
Het |
Rpa3 |
C |
A |
6: 8,256,767 (GRCm39) |
G71* |
probably null |
Het |
Rsf1 |
GCG |
GCGACGGCGTCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Rubcnl |
A |
G |
14: 75,287,584 (GRCm39) |
T623A |
probably benign |
Het |
Sltm |
A |
G |
9: 70,488,641 (GRCm39) |
D597G |
probably damaging |
Het |
Stpg2 |
T |
C |
3: 139,407,432 (GRCm39) |
V528A |
possibly damaging |
Het |
Supt6 |
C |
T |
11: 78,116,885 (GRCm39) |
R589Q |
possibly damaging |
Het |
Txndc16 |
T |
C |
14: 45,389,243 (GRCm39) |
T486A |
probably benign |
Het |
Vamp9 |
A |
G |
5: 100,089,092 (GRCm39) |
Y119C |
probably damaging |
Het |
Vmn1r185 |
A |
G |
7: 26,311,046 (GRCm39) |
V153A |
probably benign |
Het |
Vmn2r48 |
T |
C |
7: 9,668,807 (GRCm39) |
N548D |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,215,895 (GRCm39) |
I378T |
possibly damaging |
Het |
Wdr37 |
A |
G |
13: 8,892,764 (GRCm39) |
|
probably null |
Het |
Xrn2 |
G |
A |
2: 146,868,490 (GRCm39) |
R181H |
probably damaging |
Het |
Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
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 |
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'- GTTCCATGGCCCCAATGTTC -3'
(R):5'- AGGACATGACCCTAGCTAGAC -3'
Sequencing Primer
(F):5'- CCCAATGTTCCTAATAGACAGGTG -3'
(R):5'- GGAGCCCCTTCCTGACAAG -3'
|
Posted On |
2018-04-02 |