Incidental Mutation 'R7106:Tas1r2'
| ID |
551168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas1r2
|
| Ensembl Gene |
ENSMUSG00000028738 |
| Gene Name |
taste receptor, type 1, member 2 |
| Synonyms |
TR2, Gpr71, T1r2 |
| MMRRC Submission |
045198-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R7106 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
139380849-139397591 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 139389360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 448
(M448L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030510]
[ENSMUST00000166773]
[ENSMUST00000178644]
|
| AlphaFold |
Q925I4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030510
AA Change: M448L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030510
Gene: ENSMUSG00000028738
AA Change: M448L
| 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: M419L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127737
Gene: ENSMUSG00000028738
AA Change: M419L
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (62/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldob |
T |
C |
4: 49,541,258 (GRCm39) |
Y138C |
probably damaging |
Het |
| Ano7 |
A |
C |
1: 93,302,705 (GRCm39) |
|
probably null |
Het |
| Arvcf |
T |
A |
16: 18,217,799 (GRCm39) |
V497E |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,980,162 (GRCm39) |
|
probably null |
Het |
| Brinp1 |
C |
T |
4: 68,747,615 (GRCm39) |
A163T |
probably benign |
Het |
| Catsperd |
C |
A |
17: 56,965,070 (GRCm39) |
|
probably null |
Het |
| Ccm2l |
A |
G |
2: 152,912,571 (GRCm39) |
H70R |
possibly damaging |
Het |
| Cgnl1 |
G |
A |
9: 71,633,015 (GRCm39) |
T112I |
probably benign |
Het |
| Chid1 |
T |
C |
7: 141,102,573 (GRCm39) |
H220R |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,733,190 (GRCm39) |
V106A |
probably damaging |
Het |
| Cldn23 |
A |
C |
8: 36,293,069 (GRCm39) |
S140A |
probably benign |
Het |
| Dennd2c |
T |
C |
3: 103,038,893 (GRCm39) |
S14P |
possibly damaging |
Het |
| Det1 |
T |
C |
7: 78,493,212 (GRCm39) |
D264G |
probably damaging |
Het |
| Dmwd |
T |
C |
7: 18,814,454 (GRCm39) |
V368A |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,924,884 (GRCm39) |
K3362E |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,960,152 (GRCm39) |
F2208L |
probably damaging |
Het |
| Dnaja3 |
T |
C |
16: 4,523,798 (GRCm39) |
I477T |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,947,591 (GRCm39) |
K482E |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,855,563 (GRCm39) |
I1493T |
unknown |
Het |
| Ehbp1l1 |
A |
G |
19: 5,768,765 (GRCm39) |
V846A |
probably benign |
Het |
| Fbxl4 |
T |
A |
4: 22,427,140 (GRCm39) |
|
probably null |
Het |
| Fgd2 |
T |
A |
17: 29,595,944 (GRCm39) |
L534* |
probably null |
Het |
| Fgfr3 |
T |
C |
5: 33,888,758 (GRCm39) |
V349A |
probably damaging |
Het |
| Gal3st1 |
A |
T |
11: 3,948,509 (GRCm39) |
I239F |
probably damaging |
Het |
| Gpatch3 |
C |
A |
4: 133,305,514 (GRCm39) |
H250N |
probably benign |
Het |
| Guca1b |
A |
T |
17: 47,702,236 (GRCm39) |
K230* |
probably null |
Het |
| Itga3 |
G |
T |
11: 94,946,699 (GRCm39) |
L737I |
probably benign |
Het |
| Kmt5c |
A |
G |
7: 4,745,705 (GRCm39) |
K122E |
probably damaging |
Het |
| Kpna4 |
G |
A |
3: 68,986,797 (GRCm39) |
Q531* |
probably null |
Het |
| Lctl |
A |
G |
9: 64,040,119 (GRCm39) |
E410G |
probably benign |
Het |
| Lhx1 |
T |
C |
11: 84,412,903 (GRCm39) |
N128D |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,202,405 (GRCm39) |
N349D |
probably benign |
Het |
| Map2 |
G |
A |
1: 66,449,903 (GRCm39) |
A209T |
possibly damaging |
Het |
| Mif4gd |
G |
A |
11: 115,502,737 (GRCm39) |
A25V |
probably damaging |
Het |
| Mug2 |
T |
C |
6: 122,059,680 (GRCm39) |
S1353P |
probably damaging |
Het |
| Myh9 |
A |
G |
15: 77,659,321 (GRCm39) |
C931R |
probably benign |
Het |
| Nelfe |
T |
G |
17: 35,071,395 (GRCm39) |
|
probably null |
Het |
| Nrf1 |
A |
G |
6: 30,102,183 (GRCm39) |
S161G |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 116,017,368 (GRCm39) |
Q130* |
probably null |
Het |
| Prex2 |
T |
A |
1: 11,207,017 (GRCm39) |
M525K |
probably benign |
Het |
| Psme2 |
A |
G |
14: 55,825,694 (GRCm39) |
S165P |
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,973,915 (GRCm39) |
F1477S |
probably benign |
Het |
| Rasef |
A |
T |
4: 73,645,864 (GRCm39) |
C502S |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,780,988 (GRCm39) |
L565* |
probably null |
Het |
| Sav1 |
A |
G |
12: 70,031,390 (GRCm39) |
I44T |
probably damaging |
Het |
| Selp |
T |
A |
1: 163,953,991 (GRCm39) |
I97N |
probably benign |
Het |
| Serpina1d |
A |
G |
12: 103,731,980 (GRCm39) |
F293S |
probably benign |
Het |
| Sin3b |
T |
C |
8: 73,450,765 (GRCm39) |
F65L |
possibly damaging |
Het |
| Sorcs3 |
G |
C |
19: 48,694,402 (GRCm39) |
G559R |
probably damaging |
Het |
| Susd2 |
A |
T |
10: 75,473,887 (GRCm39) |
D689E |
probably damaging |
Het |
| Tbc1d30 |
A |
T |
10: 121,137,897 (GRCm39) |
I181N |
possibly damaging |
Het |
| Tcea3 |
A |
G |
4: 135,998,679 (GRCm39) |
T318A |
probably damaging |
Het |
| Tomm70a |
T |
C |
16: 56,961,121 (GRCm39) |
V358A |
probably damaging |
Het |
| Tpp1 |
A |
C |
7: 105,399,118 (GRCm39) |
S153A |
possibly damaging |
Het |
| Trip13 |
C |
T |
13: 74,062,651 (GRCm39) |
V387I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,627,832 (GRCm39) |
I14704V |
probably benign |
Het |
| Uimc1 |
C |
A |
13: 55,198,628 (GRCm39) |
C516F |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,894,228 (GRCm39) |
N210S |
probably benign |
Het |
| Vmn1r22 |
G |
T |
6: 57,877,296 (GRCm39) |
T227K |
probably damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,399,104 (GRCm39) |
I625T |
probably benign |
Het |
| Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,594,446 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
T |
C |
6: 125,001,222 (GRCm39) |
L98P |
probably benign |
Het |
| Zfp809 |
G |
T |
9: 22,147,520 (GRCm39) |
K51N |
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 |
|
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 |
|
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'- AGTTCCATGGCCCCAATGTTC -3'
(R):5'- AGGACATGACCCTAGCTAGACC -3'
Sequencing Primer
(F):5'- CCCAATGTTCCTAATAGACAGGTG -3'
(R):5'- GGAGCCCCTTCCTGACAAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation