Incidental Mutation 'R1547:Tas1r1'
| ID |
172258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas1r1
|
| Ensembl Gene |
ENSMUSG00000028950 |
| Gene Name |
taste receptor, type 1, member 1 |
| Synonyms |
TR1, T1r1, Gpr70, T1R1 |
| MMRRC Submission |
039586-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R1547 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152112371-152122947 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152112876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 726
(S726P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030792]
[ENSMUST00000066715]
[ENSMUST00000131935]
[ENSMUST00000155389]
[ENSMUST00000156748]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030792
AA Change: S726P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030792
Gene: ENSMUSG00000028950
AA Change: S726P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
75 |
456 |
1.7e-69 |
PFAM |
|
Pfam:NCD3G
|
494 |
546 |
2.1e-15 |
PFAM |
|
Pfam:7tm_3
|
578 |
815 |
3.9e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066715
|
| SMART Domains |
Protein: ENSMUSP00000067521
Gene: ENSMUSG00000028952
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
26 |
119 |
1.35e-21 |
SMART |
|
ZnF_C2H2
|
284 |
306 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
312 |
332 |
2.06e1 |
SMART |
|
ZnF_C2H2
|
343 |
365 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
371 |
394 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
400 |
423 |
2.49e-1 |
SMART |
|
ZnF_C2H2
|
429 |
452 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
458 |
480 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
486 |
508 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
514 |
537 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
543 |
565 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
571 |
593 |
5.67e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123696
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131935
|
| SMART Domains |
Protein: ENSMUSP00000116423
Gene: ENSMUSG00000028952
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
26 |
119 |
1.35e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155389
|
| SMART Domains |
Protein: ENSMUSP00000114726
Gene: ENSMUSG00000028952
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
26 |
119 |
1.35e-21 |
SMART |
|
ZnF_C2H2
|
284 |
306 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
312 |
332 |
2.06e1 |
SMART |
|
ZnF_C2H2
|
343 |
365 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
371 |
394 |
9.58e-3 |
SMART |
|
low complexity region
|
403 |
418 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155441
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156748
|
| SMART Domains |
Protein: ENSMUSP00000117079
Gene: ENSMUSG00000028952
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
80 |
102 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
108 |
128 |
2.06e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G protein-coupled receptor and is a component of the heterodimeric amino acid taste receptor T1R1+3. The T1R1+3 receptor responds to L-amino acids but not to D-enantiomers or other compounds. Most amino acids that are perceived as sweet activate T1R1+3, and this activation is strictly dependent on an intact T1R1+3 heterodimer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous mutant mice show diminished behavioral and nervous responses to umami tastants. Response to sweet tastants is unimpaired. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
C |
12: 21,403,958 (GRCm39) |
V96G |
probably damaging |
Het |
| Adam5 |
G |
T |
8: 25,300,729 (GRCm39) |
Q267K |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,581,383 (GRCm39) |
T833A |
probably benign |
Het |
| Ago4 |
C |
T |
4: 126,405,206 (GRCm39) |
E456K |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,459,476 (GRCm39) |
Q1861R |
probably benign |
Het |
| Apob |
A |
T |
12: 8,053,368 (GRCm39) |
D1270V |
probably benign |
Het |
| Arb2a |
T |
C |
13: 77,973,509 (GRCm39) |
|
probably null |
Het |
| Arhgef11 |
T |
A |
3: 87,602,709 (GRCm39) |
I196N |
possibly damaging |
Het |
| Armh4 |
A |
T |
14: 50,010,953 (GRCm39) |
D251E |
probably benign |
Het |
| Capzb |
G |
A |
4: 138,989,409 (GRCm39) |
|
probably null |
Het |
| Ccdc183 |
T |
A |
2: 25,499,362 (GRCm39) |
T466S |
probably benign |
Het |
| Cd101 |
T |
C |
3: 100,926,267 (GRCm39) |
T151A |
possibly damaging |
Het |
| Cdc42bpa |
A |
T |
1: 179,902,209 (GRCm39) |
I489F |
probably damaging |
Het |
| Cetn4 |
T |
C |
3: 37,363,600 (GRCm39) |
K52R |
possibly damaging |
Het |
| Dock6 |
C |
T |
9: 21,725,884 (GRCm39) |
E1440K |
probably damaging |
Het |
| Edem2 |
A |
G |
2: 155,564,436 (GRCm39) |
F94L |
probably damaging |
Het |
| Elp1 |
C |
A |
4: 56,792,090 (GRCm39) |
R226L |
probably damaging |
Het |
| Elp1 |
C |
T |
4: 56,798,810 (GRCm39) |
V51M |
probably damaging |
Het |
| Entrep1 |
T |
C |
19: 23,957,065 (GRCm39) |
D315G |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,790,039 (GRCm39) |
S881P |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,143,081 (GRCm39) |
P4256L |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Kif19a |
A |
G |
11: 114,677,398 (GRCm39) |
E594G |
probably benign |
Het |
| Kifap3 |
A |
G |
1: 163,621,655 (GRCm39) |
D101G |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,784,832 (GRCm39) |
D102G |
probably benign |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Lamb2 |
A |
G |
9: 108,359,824 (GRCm39) |
H388R |
probably benign |
Het |
| Lmna |
T |
C |
3: 88,389,658 (GRCm39) |
S656G |
probably benign |
Het |
| Map3k12 |
T |
A |
15: 102,412,287 (GRCm39) |
I285F |
probably damaging |
Het |
| Map3k7 |
A |
G |
4: 31,991,796 (GRCm39) |
I345V |
probably benign |
Het |
| Mcph1 |
A |
G |
8: 18,672,702 (GRCm39) |
R111G |
possibly damaging |
Het |
| Mfsd6l |
T |
A |
11: 68,447,434 (GRCm39) |
V95D |
probably damaging |
Het |
| Mogs |
T |
A |
6: 83,093,006 (GRCm39) |
M118K |
possibly damaging |
Het |
| Npy5r |
T |
C |
8: 67,133,686 (GRCm39) |
E369G |
possibly damaging |
Het |
| Nudt16l2 |
A |
T |
9: 105,021,889 (GRCm39) |
F52L |
probably damaging |
Het |
| Or10j3 |
T |
A |
1: 173,031,239 (GRCm39) |
Y105* |
probably null |
Het |
| Or2t49 |
A |
G |
11: 58,392,651 (GRCm39) |
S244P |
probably damaging |
Het |
| Or8b12b |
A |
C |
9: 37,683,960 (GRCm39) |
T2P |
probably benign |
Het |
| Pde7b |
C |
A |
10: 20,310,340 (GRCm39) |
L207F |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,020,689 (GRCm39) |
V751A |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,625,381 (GRCm39) |
Y1923C |
probably benign |
Het |
| Prokr2 |
T |
C |
2: 132,215,522 (GRCm39) |
Y152C |
probably damaging |
Het |
| Rab40c |
A |
G |
17: 26,102,724 (GRCm39) |
S223P |
probably damaging |
Het |
| Recql4 |
A |
C |
15: 76,590,511 (GRCm39) |
C658G |
probably damaging |
Het |
| Sgca |
T |
C |
11: 94,860,259 (GRCm39) |
T46A |
probably damaging |
Het |
| Slc39a4 |
G |
T |
15: 76,498,347 (GRCm39) |
C363* |
probably null |
Het |
| Snap25 |
A |
T |
2: 136,619,389 (GRCm39) |
I181F |
possibly damaging |
Het |
| Snx32 |
T |
A |
19: 5,547,339 (GRCm39) |
Q256L |
possibly damaging |
Het |
| Soat1 |
A |
G |
1: 156,267,331 (GRCm39) |
V284A |
probably damaging |
Het |
| Sox6 |
G |
A |
7: 115,300,957 (GRCm39) |
T170M |
possibly damaging |
Het |
| Spag16 |
G |
T |
1: 69,912,402 (GRCm39) |
V246F |
possibly damaging |
Het |
| St6galnac6 |
T |
C |
2: 32,504,977 (GRCm39) |
V141A |
possibly damaging |
Het |
| Sult2a7 |
T |
A |
7: 14,211,047 (GRCm39) |
|
probably null |
Het |
| Syngr3 |
A |
T |
17: 24,906,698 (GRCm39) |
V39E |
probably damaging |
Het |
| Tango6 |
A |
G |
8: 107,508,418 (GRCm39) |
T917A |
probably damaging |
Het |
| Zeb1 |
C |
T |
18: 5,767,450 (GRCm39) |
R654C |
possibly damaging |
Het |
|
| Other mutations in Tas1r1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02708:Tas1r1
|
APN |
4 |
152,112,797 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02867:Tas1r1
|
APN |
4 |
152,112,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Tas1r1
|
UTSW |
4 |
152,122,675 (GRCm39) |
nonsense |
probably null |
|
|
R1803:Tas1r1
|
UTSW |
4 |
152,116,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2037:Tas1r1
|
UTSW |
4 |
152,112,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2083:Tas1r1
|
UTSW |
4 |
152,112,848 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3821:Tas1r1
|
UTSW |
4 |
152,119,138 (GRCm39) |
missense |
probably benign |
|
|
R3912:Tas1r1
|
UTSW |
4 |
152,116,381 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4227:Tas1r1
|
UTSW |
4 |
152,112,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4272:Tas1r1
|
UTSW |
4 |
152,116,614 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4273:Tas1r1
|
UTSW |
4 |
152,116,614 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4818:Tas1r1
|
UTSW |
4 |
152,117,131 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5567:Tas1r1
|
UTSW |
4 |
152,122,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6183:Tas1r1
|
UTSW |
4 |
152,116,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7162:Tas1r1
|
UTSW |
4 |
152,116,695 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7427:Tas1r1
|
UTSW |
4 |
152,122,765 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7535:Tas1r1
|
UTSW |
4 |
152,112,819 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7736:Tas1r1
|
UTSW |
4 |
152,116,923 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7796:Tas1r1
|
UTSW |
4 |
152,119,212 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7921:Tas1r1
|
UTSW |
4 |
152,113,118 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8078:Tas1r1
|
UTSW |
4 |
152,112,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8255:Tas1r1
|
UTSW |
4 |
152,116,774 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8412:Tas1r1
|
UTSW |
4 |
152,117,033 (GRCm39) |
missense |
probably benign |
|
|
R8799:Tas1r1
|
UTSW |
4 |
152,116,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8875:Tas1r1
|
UTSW |
4 |
152,113,047 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9051:Tas1r1
|
UTSW |
4 |
152,122,833 (GRCm39) |
nonsense |
probably null |
|
|
R9393:Tas1r1
|
UTSW |
4 |
152,116,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tas1r1
|
UTSW |
4 |
152,116,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCTGCCCTGGTAAATGCTGGAC -3'
(R):5'- GCTAACACGCTATTGCTGCTGC -3'
Sequencing Primer
(F):5'- CTGGTAAATGCTGGACATGGTG -3'
(R):5'- TCACACGCCTGTTGTGAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation