Incidental Mutation 'R8904:Tas1r2'
| ID |
678365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas1r2
|
| Ensembl Gene |
ENSMUSG00000028738 |
| Gene Name |
taste receptor, type 1, member 2 |
| Synonyms |
TR2, Gpr71, T1r2 |
| MMRRC Submission |
068761-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R8904 (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 C
at 139394714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 519
(F519S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030510]
[ENSMUST00000166773]
[ENSMUST00000178644]
|
| AlphaFold |
Q925I4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030510
AA Change: F519S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030510
Gene: ENSMUSG00000028738
AA Change: F519S
| 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: F490S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127737
Gene: ENSMUSG00000028738
AA Change: F490S
| 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: 98.6%
|
| Validation Efficiency |
99% (66/67) |
| 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 |
|---|
| 2510009E07Rik |
CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA |
CCGGA |
16: 21,472,148 (GRCm39) |
|
probably null |
Het |
| Adcy1 |
T |
G |
11: 7,059,075 (GRCm39) |
L327R |
probably damaging |
Het |
| Ajm1 |
A |
T |
2: 25,467,914 (GRCm39) |
S666T |
probably benign |
Het |
| Amotl1 |
T |
C |
9: 14,469,861 (GRCm39) |
Q624R |
probably damaging |
Het |
| Ampd1 |
A |
G |
3: 102,988,374 (GRCm39) |
T106A |
probably benign |
Het |
| Aqr |
T |
A |
2: 113,967,474 (GRCm39) |
I514F |
probably damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,804,866 (GRCm39) |
T30A |
possibly damaging |
Het |
| Atp9a |
A |
T |
2: 168,547,097 (GRCm39) |
Y186N |
probably benign |
Het |
| Bub1 |
T |
A |
2: 127,671,622 (GRCm39) |
N21I |
possibly damaging |
Het |
| Cachd1 |
G |
A |
4: 100,810,363 (GRCm39) |
D322N |
probably damaging |
Het |
| Ccdc38 |
A |
G |
10: 93,411,197 (GRCm39) |
E402G |
probably damaging |
Het |
| Ccl27a |
A |
T |
4: 41,774,194 (GRCm39) |
|
probably null |
Het |
| Clec4a4 |
T |
C |
6: 122,990,836 (GRCm39) |
|
probably benign |
Het |
| Clic5 |
A |
T |
17: 44,552,992 (GRCm39) |
K82M |
probably benign |
Het |
| Cnot10 |
A |
T |
9: 114,430,423 (GRCm39) |
S566T |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,831,427 (GRCm39) |
T1596A |
probably damaging |
Het |
| Cyp2c55 |
A |
G |
19: 39,022,816 (GRCm39) |
E318G |
|
Het |
| Entpd8 |
A |
C |
2: 24,973,575 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
A |
G |
1: 119,547,936 (GRCm39) |
F156L |
probably damaging |
Het |
| Ephb4 |
T |
A |
5: 137,369,067 (GRCm39) |
M819K |
probably damaging |
Het |
| Esr1 |
A |
G |
10: 4,696,654 (GRCm39) |
R168G |
possibly damaging |
Het |
| Fbxw10 |
C |
A |
11: 62,765,831 (GRCm39) |
Y700* |
probably null |
Het |
| Fras1 |
G |
T |
5: 96,929,138 (GRCm39) |
R3847S |
probably benign |
Het |
| Gm11110 |
T |
C |
17: 57,410,439 (GRCm39) |
T20A |
unknown |
Het |
| Gpr150 |
G |
T |
13: 76,204,528 (GRCm39) |
S139* |
probably null |
Het |
| Grm1 |
A |
T |
10: 10,595,281 (GRCm39) |
N782K |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,323,404 (GRCm39) |
S4173G |
possibly damaging |
Het |
| Hmx1 |
T |
A |
5: 35,549,511 (GRCm39) |
V268D |
probably damaging |
Het |
| Hsbp1l1 |
T |
C |
18: 80,278,685 (GRCm39) |
T33A |
possibly damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,212,194 (GRCm39) |
T161A |
probably damaging |
Het |
| Igll1 |
A |
T |
16: 16,681,576 (GRCm39) |
W60R |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,664,893 (GRCm39) |
T593A |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,428,824 (GRCm39) |
D1393G |
possibly damaging |
Het |
| Krt36 |
A |
G |
11: 99,996,173 (GRCm39) |
F84L |
probably benign |
Het |
| Macrod1 |
T |
C |
19: 7,174,385 (GRCm39) |
S266P |
probably damaging |
Het |
| Mib2 |
A |
G |
4: 155,744,173 (GRCm39) |
V163A |
probably damaging |
Het |
| Mmut |
A |
G |
17: 41,248,284 (GRCm39) |
T104A |
probably damaging |
Het |
| Mpl |
A |
G |
4: 118,301,263 (GRCm39) |
L534P |
|
Het |
| Myo3b |
C |
A |
2: 70,257,252 (GRCm39) |
H1317N |
probably benign |
Het |
| Nkx2-6 |
A |
G |
14: 69,409,420 (GRCm39) |
D57G |
probably benign |
Het |
| Or1ab2 |
A |
G |
8: 72,864,276 (GRCm39) |
I289V |
probably damaging |
Het |
| Or5b24 |
T |
C |
19: 12,912,192 (GRCm39) |
V30A |
probably benign |
Het |
| Or5d46 |
T |
G |
2: 88,169,949 (GRCm39) |
F13L |
possibly damaging |
Het |
| Or5p79 |
A |
G |
7: 108,221,919 (GRCm39) |
N300S |
probably damaging |
Het |
| Or6s1 |
A |
G |
14: 51,308,665 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or7g33 |
A |
T |
9: 19,448,760 (GRCm39) |
D155E |
possibly damaging |
Het |
| Osbpl11 |
T |
A |
16: 33,047,607 (GRCm39) |
H523Q |
probably damaging |
Het |
| Pde1c |
A |
T |
6: 56,156,128 (GRCm39) |
S148T |
possibly damaging |
Het |
| Pign |
G |
A |
1: 105,519,359 (GRCm39) |
A521V |
possibly damaging |
Het |
| Pprc1 |
A |
G |
19: 46,060,183 (GRCm39) |
M1536V |
possibly damaging |
Het |
| Prg4 |
C |
A |
1: 150,331,810 (GRCm39) |
A288S |
possibly damaging |
Het |
| Prim2 |
A |
T |
1: 33,669,513 (GRCm39) |
I154N |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,545,590 (GRCm39) |
V1902A |
probably benign |
Het |
| Prss40 |
C |
T |
1: 34,595,045 (GRCm39) |
|
probably benign |
Het |
| Ret |
C |
T |
6: 118,157,174 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,026,127 (GRCm39) |
C1056S |
probably damaging |
Het |
| Schip1 |
T |
C |
3: 68,402,436 (GRCm39) |
L199P |
possibly damaging |
Het |
| Sema4d |
A |
T |
13: 51,854,935 (GRCm39) |
L54* |
probably null |
Het |
| Sgsm1 |
C |
T |
5: 113,421,495 (GRCm39) |
G531R |
probably benign |
Het |
| Tnfsf11 |
C |
T |
14: 78,516,119 (GRCm39) |
R283Q |
possibly damaging |
Het |
| Tril |
C |
T |
6: 53,797,202 (GRCm39) |
V7M |
possibly damaging |
Het |
| Tsr1 |
T |
A |
11: 74,790,217 (GRCm39) |
Y137* |
probably null |
Het |
| Ubr5 |
A |
G |
15: 38,042,153 (GRCm39) |
S148P |
|
Het |
| Unc13b |
A |
G |
4: 43,178,531 (GRCm39) |
|
probably benign |
Het |
| Zfp606 |
A |
G |
7: 12,223,506 (GRCm39) |
T64A |
possibly 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 |
|
|
R8824:Tas1r2
|
UTSW |
4 |
139,381,074 (GRCm39) |
splice site |
probably benign |
|
|
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'- AGTCCTGCAGAGATCTAGTTCTAAC -3'
(R):5'- TGGATACTTGCATCCCCTGG -3'
Sequencing Primer
(F):5'- CTGCAGAGATCTAGTTCTAACAGCAG -3'
(R):5'- GGAAGACCCCAGAGACCCTG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation