Incidental Mutation 'R4272:Tas1r1'
| ID |
322211 |
| 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 |
041644-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R4272 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
152112371-152122947 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 152116614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 340
(E340G)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000030792
AA Change: E340G
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000030792
Gene: ENSMUSG00000028950
AA Change: E340G
| 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 |
noncoding transcript
Transcript: ENSMUST00000147982
AA Change: S375G
|
| 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 |
|
| Meta Mutation Damage Score |
0.2848 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (52/53) |
| 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 |
|---|
| Adgrf2 |
T |
A |
17: 43,021,013 (GRCm39) |
T604S |
probably damaging |
Het |
| Ago3 |
T |
A |
4: 126,248,884 (GRCm39) |
T556S |
possibly damaging |
Het |
| Arap2 |
T |
C |
5: 62,828,322 (GRCm39) |
I950V |
possibly damaging |
Het |
| Arl5b |
A |
G |
2: 15,077,990 (GRCm39) |
E105G |
probably damaging |
Het |
| Capza3 |
A |
G |
6: 139,988,264 (GRCm39) |
I288V |
probably benign |
Het |
| Chka |
G |
A |
19: 3,925,737 (GRCm39) |
|
probably benign |
Het |
| Cnpy4 |
G |
T |
5: 138,190,853 (GRCm39) |
V159F |
probably damaging |
Het |
| Crb1 |
T |
C |
1: 139,251,049 (GRCm39) |
I301V |
probably benign |
Het |
| Disp1 |
T |
A |
1: 182,869,208 (GRCm39) |
I1071F |
possibly damaging |
Het |
| Dlec1 |
C |
T |
9: 118,972,231 (GRCm39) |
A1417V |
probably damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,073,038 (GRCm39) |
S686T |
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,149,775 (GRCm39) |
S411P |
probably damaging |
Het |
| Efnb2 |
T |
A |
8: 8,670,698 (GRCm39) |
S301C |
probably damaging |
Het |
| Enpp4 |
T |
C |
17: 44,412,698 (GRCm39) |
N279D |
probably benign |
Het |
| Exoc3 |
A |
G |
13: 74,340,763 (GRCm39) |
V347A |
probably damaging |
Het |
| Ezh1 |
A |
G |
11: 101,085,734 (GRCm39) |
F641S |
probably damaging |
Het |
| Gcgr |
T |
A |
11: 120,429,250 (GRCm39) |
|
probably benign |
Het |
| Gm4887 |
G |
T |
7: 104,470,535 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Htt |
G |
A |
5: 35,006,413 (GRCm39) |
V1441I |
possibly damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,810,818 (GRCm39) |
Y422H |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,120,044 (GRCm39) |
M1398V |
probably benign |
Het |
| Lrrc15 |
T |
C |
16: 30,092,673 (GRCm39) |
N222S |
probably benign |
Het |
| Mctp2 |
A |
T |
7: 71,909,079 (GRCm39) |
V78E |
possibly damaging |
Het |
| Medag |
A |
G |
5: 149,345,628 (GRCm39) |
Y103C |
probably damaging |
Het |
| Mphosph9 |
G |
A |
5: 124,442,266 (GRCm39) |
P361S |
probably damaging |
Het |
| Npffr2 |
G |
A |
5: 89,715,882 (GRCm39) |
V70M |
probably damaging |
Het |
| Obox3-ps8 |
A |
C |
17: 36,763,909 (GRCm39) |
|
noncoding transcript |
Het |
| Or4c117 |
A |
G |
2: 88,955,706 (GRCm39) |
V123A |
probably damaging |
Het |
| Pdgfra |
G |
A |
5: 75,343,731 (GRCm39) |
V751I |
probably benign |
Het |
| Phykpl |
T |
C |
11: 51,476,355 (GRCm39) |
L25P |
probably damaging |
Het |
| Rgl1 |
A |
T |
1: 152,412,040 (GRCm39) |
I443N |
probably benign |
Het |
| Riok3 |
AGAAGCGG |
AG |
18: 12,268,998 (GRCm39) |
|
probably benign |
Het |
| Rragd |
T |
C |
4: 32,996,099 (GRCm39) |
|
probably null |
Het |
| Rtcb |
A |
T |
10: 85,793,483 (GRCm39) |
M30K |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,415,533 (GRCm39) |
C280S |
probably damaging |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Skp2 |
C |
A |
15: 9,116,947 (GRCm39) |
|
probably null |
Het |
| Slc52a3 |
T |
A |
2: 151,847,660 (GRCm39) |
I256N |
possibly damaging |
Het |
| Sycp2 |
A |
T |
2: 178,000,017 (GRCm39) |
D986E |
probably benign |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Trhr |
G |
A |
15: 44,060,620 (GRCm39) |
V47I |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,769,476 (GRCm39) |
N749K |
probably damaging |
Het |
| Ttc27 |
T |
A |
17: 75,147,355 (GRCm39) |
W636R |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,608,691 (GRCm39) |
R17775L |
probably damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,402,106 (GRCm39) |
F394S |
probably benign |
Het |
| Zfp52 |
C |
A |
17: 21,780,459 (GRCm39) |
Y102* |
probably null |
Het |
| Zyx |
A |
G |
6: 42,327,880 (GRCm39) |
D70G |
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 |
|
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 |
|
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'- ACAGGTCCCAGAGGTACATC -3'
(R):5'- GGTCGTGGTCTTCTCTAACC -3'
Sequencing Primer
(F):5'- AGGTACATCCCAGGAGCTG -3'
(R):5'- TCTCTAACCGGCACCTGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation