Incidental Mutation 'R8412:Tas1r1'
| ID |
652729 |
| 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 |
067816-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R8412 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152112371-152122947 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 152117033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 200
(I200M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030792]
[ENSMUST00000066715]
[ENSMUST00000131935]
[ENSMUST00000155389]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030792
AA Change: I200M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030792
Gene: ENSMUSG00000028950
AA Change: I200M
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
T |
A |
1: 183,765,356 (GRCm39) |
R234S |
probably damaging |
Het |
| Ace |
T |
A |
11: 105,870,092 (GRCm39) |
F806Y |
probably benign |
Het |
| Ak8 |
A |
G |
2: 28,629,643 (GRCm39) |
T286A |
probably benign |
Het |
| Apba2 |
T |
A |
7: 64,395,546 (GRCm39) |
F674Y |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,058,069 (GRCm39) |
I2184V |
probably benign |
Het |
| Arhgap23 |
C |
T |
11: 97,356,854 (GRCm39) |
P884L |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,294,554 (GRCm39) |
L90P |
probably damaging |
Het |
| Bhmt2 |
T |
A |
13: 93,798,820 (GRCm39) |
I334F |
possibly damaging |
Het |
| Bmi1 |
C |
T |
2: 18,689,114 (GRCm39) |
T266I |
probably damaging |
Het |
| Cdh26 |
A |
G |
2: 178,104,517 (GRCm39) |
I301V |
probably damaging |
Het |
| Cenpx |
A |
T |
11: 120,602,558 (GRCm39) |
H68Q |
unknown |
Het |
| Cnot10 |
T |
C |
9: 114,439,738 (GRCm39) |
R524G |
probably benign |
Het |
| Cnpy1 |
A |
T |
5: 28,414,206 (GRCm39) |
Y22* |
probably null |
Het |
| Csmd3 |
C |
T |
15: 47,499,794 (GRCm39) |
R2114H |
|
Het |
| Defa29 |
T |
A |
8: 21,816,062 (GRCm39) |
T102S |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,744,711 (GRCm39) |
I582T |
probably benign |
Het |
| Gm14295 |
G |
A |
2: 176,501,422 (GRCm39) |
C304Y |
probably damaging |
Het |
| Gucy2d |
T |
C |
7: 98,093,046 (GRCm39) |
V141A |
possibly damaging |
Het |
| Ifi47 |
A |
C |
11: 48,986,425 (GRCm39) |
Q64P |
probably damaging |
Het |
| Irx3 |
G |
T |
8: 92,527,028 (GRCm39) |
S225R |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,340,581 (GRCm39) |
H289R |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,802,128 (GRCm39) |
D512G |
probably damaging |
Het |
| Mcm3 |
C |
T |
1: 20,886,980 (GRCm39) |
V142I |
probably benign |
Het |
| Med23 |
C |
A |
10: 24,784,632 (GRCm39) |
F1200L |
probably benign |
Het |
| Ndst4 |
A |
T |
3: 125,364,439 (GRCm39) |
D372V |
possibly damaging |
Het |
| Nob1 |
T |
A |
8: 108,148,230 (GRCm39) |
K71* |
probably null |
Het |
| Ntrk3 |
A |
G |
7: 78,005,897 (GRCm39) |
I488T |
probably benign |
Het |
| Pds5b |
G |
T |
5: 150,643,424 (GRCm39) |
C82F |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,360,022 (GRCm39) |
V969E |
possibly damaging |
Het |
| Ppme1 |
A |
T |
7: 99,984,298 (GRCm39) |
N307K |
probably benign |
Het |
| Pus7l |
C |
T |
15: 94,425,856 (GRCm39) |
C515Y |
probably benign |
Het |
| Rpp21 |
T |
A |
17: 36,568,591 (GRCm39) |
H22L |
possibly damaging |
Het |
| Scamp3 |
T |
C |
3: 89,088,525 (GRCm39) |
F244L |
probably damaging |
Het |
| Scgb1b7 |
A |
T |
7: 31,412,379 (GRCm39) |
K52* |
probably null |
Het |
| Slc12a3 |
T |
C |
8: 95,060,695 (GRCm39) |
I261T |
probably damaging |
Het |
| Slc19a3 |
C |
T |
1: 82,992,533 (GRCm39) |
R396H |
probably damaging |
Het |
| Slc22a14 |
T |
C |
9: 119,009,922 (GRCm39) |
I58V |
probably benign |
Het |
| Slc9a9 |
A |
C |
9: 95,111,092 (GRCm39) |
T637P |
probably damaging |
Het |
| Snrnp40 |
T |
A |
4: 130,278,316 (GRCm39) |
C274S |
possibly damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,088,457 (GRCm39) |
V905A |
probably damaging |
Het |
| Taok3 |
A |
G |
5: 117,404,102 (GRCm39) |
D759G |
possibly damaging |
Het |
| Tnfrsf25 |
T |
C |
4: 152,204,139 (GRCm39) |
V360A |
possibly damaging |
Het |
| Trim12a |
A |
T |
7: 103,953,544 (GRCm39) |
M189K |
possibly damaging |
Het |
| Tspan32 |
T |
C |
7: 142,559,695 (GRCm39) |
F41L |
probably benign |
Het |
| Tube1 |
T |
A |
10: 39,021,657 (GRCm39) |
S301T |
possibly damaging |
Het |
| Usp8 |
T |
C |
2: 126,584,578 (GRCm39) |
S596P |
probably benign |
Het |
| Virma |
T |
A |
4: 11,521,261 (GRCm39) |
|
probably null |
Het |
| Vmn2r58 |
T |
C |
7: 41,513,722 (GRCm39) |
D307G |
probably benign |
Het |
| Zeb2 |
T |
C |
2: 44,888,964 (GRCm39) |
K327R |
probably damaging |
Het |
| Zfp54 |
C |
T |
17: 21,654,910 (GRCm39) |
T468M |
probably benign |
Het |
| Zfp780b |
A |
T |
7: 27,662,551 (GRCm39) |
I668N |
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 |
|
R1547:Tas1r1
|
UTSW |
4 |
152,112,876 (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 |
|
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'- TTAGAGAAGACCACGACCACGG -3'
(R):5'- AACTCCATAGAGCGTCCTGC -3'
Sequencing Primer
(F):5'- GAGCCAGACGCAGCATCATG -3'
(R):5'- CCTGTACTGGGTGGGCACTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation