Incidental Mutation 'R2083:Tas1r1'
| ID |
230137 |
| 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 |
040088-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R2083 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152112371-152122947 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 152112848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 735
(H735L)
|
| 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 benign
Transcript: ENSMUST00000030792
AA Change: H735L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000030792
Gene: ENSMUSG00000028950
AA Change: H735L
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
T |
A |
5: 146,121,681 (GRCm39) |
M73L |
possibly damaging |
Het |
| AA986860 |
A |
T |
1: 130,668,806 (GRCm39) |
I58F |
probably damaging |
Het |
| Acsl3 |
A |
T |
1: 78,677,528 (GRCm39) |
K507N |
probably damaging |
Het |
| Adcy3 |
T |
C |
12: 4,223,512 (GRCm39) |
Y245H |
probably damaging |
Het |
| Adgra1 |
T |
C |
7: 139,455,547 (GRCm39) |
S392P |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,988,921 (GRCm39) |
P3402S |
probably damaging |
Het |
| Ambra1 |
T |
A |
2: 91,596,945 (GRCm39) |
I12N |
possibly damaging |
Het |
| Atp10b |
A |
G |
11: 43,103,250 (GRCm39) |
T545A |
probably benign |
Het |
| Atxn2 |
G |
T |
5: 121,922,069 (GRCm39) |
A638S |
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,574,575 (GRCm39) |
S520P |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,709,733 (GRCm39) |
D1821G |
unknown |
Het |
| Cyp4a10 |
T |
C |
4: 115,382,505 (GRCm39) |
V265A |
possibly damaging |
Het |
| Dmrtb1 |
C |
T |
4: 107,540,809 (GRCm39) |
R184Q |
possibly damaging |
Het |
| Dnah7b |
A |
T |
1: 46,280,227 (GRCm39) |
I2719F |
possibly damaging |
Het |
| En2 |
T |
C |
5: 28,372,071 (GRCm39) |
S183P |
probably damaging |
Het |
| Etfb |
A |
G |
7: 43,105,924 (GRCm39) |
T101A |
probably benign |
Het |
| Etl4 |
T |
A |
2: 20,748,360 (GRCm39) |
S364T |
probably damaging |
Het |
| Gm17728 |
C |
A |
17: 9,641,121 (GRCm39) |
S77Y |
possibly damaging |
Het |
| Golga4 |
A |
G |
9: 118,361,658 (GRCm39) |
E221G |
probably damaging |
Het |
| Gpr37 |
T |
C |
6: 25,688,416 (GRCm39) |
N227S |
possibly damaging |
Het |
| Insyn2b |
A |
G |
11: 34,352,141 (GRCm39) |
D61G |
probably benign |
Het |
| Kctd1 |
A |
T |
18: 15,107,112 (GRCm39) |
N784K |
possibly damaging |
Het |
| Klhl22 |
A |
G |
16: 17,594,389 (GRCm39) |
T173A |
probably benign |
Het |
| Ly6e |
T |
A |
15: 74,830,168 (GRCm39) |
C41S |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,845,963 (GRCm39) |
L444P |
possibly damaging |
Het |
| Mkx |
A |
T |
18: 6,992,855 (GRCm39) |
I143K |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,315,815 (GRCm39) |
F124L |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 71,015,046 (GRCm39) |
L68H |
possibly damaging |
Het |
| Obscn |
A |
C |
11: 58,964,457 (GRCm39) |
Y726* |
probably null |
Het |
| Or4f59 |
C |
T |
2: 111,872,898 (GRCm39) |
V160I |
probably benign |
Het |
| Or8d1 |
T |
G |
9: 38,766,637 (GRCm39) |
V93G |
probably benign |
Het |
| Peak1 |
G |
A |
9: 56,166,233 (GRCm39) |
S565L |
probably damaging |
Het |
| Pter |
T |
A |
2: 12,983,247 (GRCm39) |
L84Q |
probably damaging |
Het |
| Ptpn4 |
A |
G |
1: 119,615,489 (GRCm39) |
L555P |
possibly damaging |
Het |
| Rpp40 |
A |
T |
13: 36,082,975 (GRCm39) |
M171K |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,443,955 (GRCm39) |
I2000M |
possibly damaging |
Het |
| Scn5a |
T |
C |
9: 119,321,189 (GRCm39) |
I1458V |
probably benign |
Het |
| Slc38a4 |
T |
C |
15: 96,906,874 (GRCm39) |
D288G |
probably benign |
Het |
| Slc8a2 |
T |
G |
7: 15,868,440 (GRCm39) |
V224G |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,127,681 (GRCm39) |
E173G |
probably benign |
Het |
| Trps1 |
G |
T |
15: 50,685,701 (GRCm39) |
Q155K |
probably damaging |
Het |
| Tspyl5 |
T |
C |
15: 33,686,892 (GRCm39) |
H351R |
probably damaging |
Het |
| Ttf2 |
A |
T |
3: 100,876,817 (GRCm39) |
D21E |
probably benign |
Het |
| Ttll7 |
A |
G |
3: 146,635,859 (GRCm39) |
R398G |
possibly damaging |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,579 (GRCm39) |
Y148N |
probably damaging |
Het |
| Vmn1r8 |
T |
A |
6: 57,013,325 (GRCm39) |
H125Q |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,468,223 (GRCm39) |
T2794A |
possibly damaging |
Het |
| Zfp27 |
T |
C |
7: 29,594,208 (GRCm39) |
I586V |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,660,770 (GRCm39) |
D13G |
probably 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 |
|
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'- AGGAAATAGCCGCTGAAGCC -3'
(R):5'- AAACCATGGTGCCGGAATATTC -3'
Sequencing Primer
(F):5'- TGCCAGCACATTGACCG -3'
(R):5'- GCCGGAATATTCGTCATTGTCAGC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation