Incidental Mutation 'R6183:Tas1r1'
| ID |
487612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas1r1
|
| Ensembl Gene |
ENSMUSG00000028950 |
| Gene Name |
taste receptor, type 1, member 1 |
| Synonyms |
TR1, T1r1, Gpr70, T1R1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6183 (G1)
|
| Quality Score |
82.0076 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152112371-152122947 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152116998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 212
(I212T)
|
| 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 damaging
Transcript: ENSMUST00000030792
AA Change: I212T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030792
Gene: ENSMUSG00000028950
AA Change: I212T
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
A |
5: 8,968,718 (GRCm39) |
D352E |
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,133,451 (GRCm39) |
I972L |
probably damaging |
Het |
| Alg3 |
T |
C |
16: 20,429,391 (GRCm39) |
Y33C |
probably benign |
Het |
| Atp1a3 |
C |
T |
7: 24,681,177 (GRCm39) |
G816D |
probably damaging |
Het |
| Ccdc121 |
T |
C |
5: 31,645,320 (GRCm39) |
Y358H |
probably damaging |
Het |
| Ces1g |
C |
T |
8: 94,057,867 (GRCm39) |
V145M |
possibly damaging |
Het |
| Clip1 |
A |
G |
5: 123,780,667 (GRCm39) |
S339P |
probably damaging |
Het |
| Col2a1 |
G |
T |
15: 97,886,671 (GRCm39) |
T378N |
unknown |
Het |
| Dennd4b |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAGCAGCAG |
3: 90,182,875 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,583,726 (GRCm39) |
L3207Q |
probably damaging |
Het |
| Efcab5 |
T |
C |
11: 77,028,084 (GRCm39) |
T416A |
probably benign |
Het |
| Ephb1 |
A |
T |
9: 102,072,524 (GRCm39) |
I85N |
probably damaging |
Het |
| Etnppl |
T |
C |
3: 130,413,966 (GRCm39) |
C22R |
probably damaging |
Het |
| F830016B08Rik |
A |
G |
18: 60,432,949 (GRCm39) |
T11A |
probably benign |
Het |
| Gm5458 |
C |
A |
14: 19,649,712 (GRCm39) |
V171L |
probably damaging |
Het |
| Helb |
G |
T |
10: 119,948,903 (GRCm39) |
|
probably null |
Het |
| Hnrnpll |
A |
G |
17: 80,357,305 (GRCm39) |
V237A |
possibly damaging |
Het |
| Hps3 |
T |
C |
3: 20,063,032 (GRCm39) |
T712A |
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,453,896 (GRCm39) |
E78G |
possibly damaging |
Het |
| Ighv1-62-2 |
G |
A |
12: 115,410,056 (GRCm39) |
A111V |
probably damaging |
Het |
| Igkv4-63 |
G |
T |
6: 69,355,108 (GRCm39) |
Q58K |
probably damaging |
Het |
| Iqcg |
T |
C |
16: 32,851,293 (GRCm39) |
Y226C |
probably damaging |
Het |
| Khdc1a |
A |
T |
1: 21,420,332 (GRCm39) |
D30V |
possibly damaging |
Het |
| Krtap5-5 |
C |
A |
7: 141,783,524 (GRCm39) |
C42F |
unknown |
Het |
| Lmod3 |
T |
C |
6: 97,229,514 (GRCm39) |
N7D |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 46,983,752 (GRCm39) |
N165S |
probably benign |
Het |
| Ms4a4c |
A |
G |
19: 11,403,593 (GRCm39) |
T192A |
possibly damaging |
Het |
| Ncald |
A |
T |
15: 37,397,476 (GRCm39) |
V68D |
probably damaging |
Het |
| Or4e5 |
T |
A |
14: 52,728,188 (GRCm39) |
T78S |
probably benign |
Het |
| Pcdhgb7 |
A |
T |
18: 37,885,315 (GRCm39) |
I162F |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,565,834 (GRCm39) |
T4A |
possibly damaging |
Het |
| Qrich2 |
T |
A |
11: 116,348,955 (GRCm39) |
|
probably benign |
Het |
| Rgl1 |
C |
T |
1: 152,462,321 (GRCm39) |
E60K |
possibly damaging |
Het |
| Rtn1 |
A |
T |
12: 72,455,265 (GRCm39) |
W21R |
probably benign |
Het |
| Scart2 |
A |
G |
7: 139,875,947 (GRCm39) |
T404A |
possibly damaging |
Het |
| Spast |
A |
G |
17: 74,680,353 (GRCm39) |
I438M |
probably damaging |
Het |
| Sptbn5 |
C |
T |
2: 119,889,898 (GRCm39) |
|
probably benign |
Het |
| Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
| Tbc1d1 |
A |
G |
5: 64,432,768 (GRCm39) |
N439D |
probably damaging |
Het |
| Tjp2 |
C |
T |
19: 24,078,155 (GRCm39) |
A913T |
probably damaging |
Het |
| Tnfrsf26 |
A |
G |
7: 143,165,494 (GRCm39) |
L47P |
probably damaging |
Het |
| Unc13a |
A |
T |
8: 72,097,310 (GRCm39) |
S1195T |
probably damaging |
Het |
| Usp54 |
T |
C |
14: 20,602,313 (GRCm39) |
R1346G |
probably damaging |
Het |
| Vmn1r54 |
T |
A |
6: 90,246,272 (GRCm39) |
M62K |
possibly damaging |
Het |
| Vmn2r125 |
A |
T |
4: 156,702,364 (GRCm39) |
D50V |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,644,766 (GRCm39) |
D548G |
possibly damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,664,192 (GRCm39) |
N470K |
probably damaging |
Het |
| Zc3h7a |
A |
T |
16: 10,965,234 (GRCm39) |
I633N |
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 |
|
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'- TGCCGGTTAGAGAAGACCAC -3'
(R):5'- GAGGGGCAGACTTCATTCAG -3'
Sequencing Primer
(F):5'- GAAGACCACGACCACGGTG -3'
(R):5'- GGGCAGACTTCATTCAGTTCCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation