Incidental Mutation 'R4420:Tas1r3'
| ID |
327038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas1r3
|
| Ensembl Gene |
ENSMUSG00000029072 |
| Gene Name |
taste receptor, type 1, member 3 |
| Synonyms |
T1r3 |
| MMRRC Submission |
041141-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R4420 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155943725-155947810 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155946789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 272
(V272A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030948]
[ENSMUST00000030949]
[ENSMUST00000030950]
[ENSMUST00000151961]
[ENSMUST00000168552]
|
| AlphaFold |
Q925D8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030948
|
| SMART Domains |
Protein: ENSMUSP00000030948
Gene: ENSMUSG00000029071
| Domain | Start | End | E-Value | Type |
|---|
|
DAX
|
1 |
85 |
2.17e-52 |
SMART |
|
Pfam:Dishevelled
|
144 |
215 |
1.1e-31 |
PFAM |
|
low complexity region
|
217 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
235 |
246 |
N/A |
INTRINSIC |
|
PDZ
|
260 |
339 |
3.13e-16 |
SMART |
|
low complexity region
|
380 |
397 |
N/A |
INTRINSIC |
|
DEP
|
425 |
499 |
1.47e-26 |
SMART |
|
Pfam:Dsh_C
|
503 |
685 |
4.2e-67 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030949
AA Change: V272A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030949
Gene: ENSMUSG00000029072
AA Change: V272A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
72 |
469 |
2e-79 |
PFAM |
|
Pfam:NCD3G
|
500 |
552 |
1.9e-16 |
PFAM |
|
Pfam:7tm_3
|
576 |
821 |
9.6e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030950
|
| SMART Domains |
Protein: ENSMUSP00000030950
Gene: ENSMUSG00000029073
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GLTP
|
27 |
179 |
1.4e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133184
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143457
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151961
|
| SMART Domains |
Protein: ENSMUSP00000115935
Gene: ENSMUSG00000029073
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GLTP
|
25 |
181 |
1.9e-49 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156266
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168552
|
| SMART Domains |
Protein: ENSMUSP00000133137
Gene: ENSMUSG00000029071
| Domain | Start | End | E-Value | Type |
|---|
|
DAX
|
1 |
85 |
2.17e-52 |
SMART |
|
Pfam:Dishevelled
|
90 |
247 |
1.7e-60 |
PFAM |
|
PDZ
|
260 |
339 |
3.13e-16 |
SMART |
|
low complexity region
|
380 |
397 |
N/A |
INTRINSIC |
|
DEP
|
425 |
499 |
1.47e-26 |
SMART |
|
Pfam:Dsh_C
|
503 |
685 |
7.6e-59 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (53/55) |
| 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 involved in taste responses. The encoded protein can form a heterodimeric receptor with TAS1R1 to elicit the umami taste response, or it can bind with TAS1R2 to form a receptor for the sweet taste response. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mutation of this locus affects taste perception. Complete inactivation results in diminished behavioral and nervous repsonses to both sweet and umami tastants. [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 |
|---|
| Arhgef17 |
G |
A |
7: 100,531,515 (GRCm39) |
|
probably benign |
Het |
| Atp1b1 |
T |
C |
1: 164,281,127 (GRCm39) |
T53A |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,731,045 (GRCm39) |
Q104R |
probably damaging |
Het |
| Casz1 |
T |
G |
4: 149,033,375 (GRCm39) |
N1382K |
possibly damaging |
Het |
| Chfr |
T |
A |
5: 110,318,746 (GRCm39) |
C585* |
probably null |
Het |
| Chp2 |
T |
C |
7: 121,821,161 (GRCm39) |
F174S |
probably damaging |
Het |
| Dclre1c |
A |
T |
2: 3,434,782 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
G |
6: 73,168,462 (GRCm39) |
V487A |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 66,009,575 (GRCm39) |
R771G |
probably benign |
Het |
| Duox1 |
G |
A |
2: 122,157,607 (GRCm39) |
A578T |
probably benign |
Het |
| Elp3 |
G |
A |
14: 65,818,240 (GRCm39) |
A140V |
probably damaging |
Het |
| Fbrsl1 |
T |
C |
5: 110,526,852 (GRCm39) |
H387R |
possibly damaging |
Het |
| Gnat3 |
T |
C |
5: 18,204,799 (GRCm39) |
S151P |
probably damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,634,640 (GRCm39) |
L228H |
probably damaging |
Het |
| Gzmn |
A |
T |
14: 56,403,463 (GRCm39) |
H215Q |
probably benign |
Het |
| Heg1 |
A |
T |
16: 33,547,805 (GRCm39) |
E864V |
probably benign |
Het |
| Hoxb9 |
T |
C |
11: 96,162,807 (GRCm39) |
V147A |
probably benign |
Het |
| Hsf5 |
T |
G |
11: 87,548,130 (GRCm39) |
H604Q |
probably benign |
Het |
| Hus1 |
T |
C |
11: 8,950,133 (GRCm39) |
E196G |
probably damaging |
Het |
| Il12rb2 |
G |
T |
6: 67,293,394 (GRCm39) |
|
probably null |
Het |
| Irs1 |
T |
C |
1: 82,266,171 (GRCm39) |
S682G |
possibly damaging |
Het |
| Jcad |
T |
C |
18: 4,676,032 (GRCm39) |
S1265P |
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Matk |
A |
G |
10: 81,098,291 (GRCm39) |
S361G |
possibly damaging |
Het |
| Mroh5 |
TGGAG |
TG |
15: 73,654,923 (GRCm39) |
|
probably benign |
Het |
| Nceh1 |
A |
G |
3: 27,295,798 (GRCm39) |
D353G |
probably damaging |
Het |
| Nqo1 |
C |
T |
8: 108,118,749 (GRCm39) |
|
probably null |
Het |
| Or5t7 |
A |
G |
2: 86,507,263 (GRCm39) |
V138A |
possibly damaging |
Het |
| Pcdh7 |
T |
C |
5: 58,286,512 (GRCm39) |
I1196T |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,114,644 (GRCm39) |
V29A |
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 146,927,736 (GRCm39) |
Y794* |
probably null |
Het |
| Prdx5 |
C |
A |
19: 6,885,332 (GRCm39) |
|
probably null |
Het |
| Psme4 |
C |
T |
11: 30,762,028 (GRCm39) |
T456I |
possibly damaging |
Het |
| Ptprd |
A |
T |
4: 75,957,614 (GRCm39) |
S923R |
possibly damaging |
Het |
| Samd12 |
G |
A |
15: 53,723,655 (GRCm39) |
R13W |
probably damaging |
Het |
| Slc35f4 |
A |
T |
14: 49,551,034 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
A |
G |
15: 84,997,031 (GRCm39) |
Y530H |
probably damaging |
Het |
| Spata2l |
T |
C |
8: 123,960,768 (GRCm39) |
T174A |
possibly damaging |
Het |
| Sugct |
C |
T |
13: 17,627,130 (GRCm39) |
C241Y |
probably damaging |
Het |
| Tarbp1 |
G |
T |
8: 127,173,819 (GRCm39) |
A965D |
possibly damaging |
Het |
| Tas2r117 |
T |
A |
6: 132,780,312 (GRCm39) |
L150* |
probably null |
Het |
| Trip10 |
C |
T |
17: 57,562,448 (GRCm39) |
P322L |
probably benign |
Het |
| Wdfy3 |
A |
C |
5: 102,058,850 (GRCm39) |
H1487Q |
probably damaging |
Het |
| Wdr95 |
G |
A |
5: 149,456,131 (GRCm39) |
V8M |
probably damaging |
Het |
| Zc3h15 |
C |
A |
2: 83,488,356 (GRCm39) |
A98E |
probably damaging |
Het |
| Zfp763 |
T |
G |
17: 33,237,455 (GRCm39) |
K563N |
probably benign |
Het |
| Zmym2 |
G |
A |
14: 57,194,335 (GRCm39) |
D1198N |
probably damaging |
Het |
| Zp1 |
C |
T |
19: 10,892,124 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tas1r3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01356:Tas1r3
|
APN |
4 |
155,945,784 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01587:Tas1r3
|
APN |
4 |
155,945,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02314:Tas1r3
|
APN |
4 |
155,945,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02747:Tas1r3
|
APN |
4 |
155,944,917 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02999:Tas1r3
|
APN |
4 |
155,946,816 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03026:Tas1r3
|
APN |
4 |
155,946,300 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03407:Tas1r3
|
APN |
4 |
155,946,439 (GRCm39) |
splice site |
probably null |
|
|
R0122:Tas1r3
|
UTSW |
4 |
155,945,290 (GRCm39) |
missense |
probably benign |
|
|
R0827:Tas1r3
|
UTSW |
4 |
155,945,326 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1700:Tas1r3
|
UTSW |
4 |
155,946,027 (GRCm39) |
missense |
probably benign |
|
|
R1803:Tas1r3
|
UTSW |
4 |
155,944,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1804:Tas1r3
|
UTSW |
4 |
155,944,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1883:Tas1r3
|
UTSW |
4 |
155,946,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1998:Tas1r3
|
UTSW |
4 |
155,947,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2061:Tas1r3
|
UTSW |
4 |
155,944,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2104:Tas1r3
|
UTSW |
4 |
155,946,588 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2127:Tas1r3
|
UTSW |
4 |
155,944,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2129:Tas1r3
|
UTSW |
4 |
155,944,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2237:Tas1r3
|
UTSW |
4 |
155,946,675 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2316:Tas1r3
|
UTSW |
4 |
155,947,772 (GRCm39) |
missense |
probably benign |
|
|
R2847:Tas1r3
|
UTSW |
4 |
155,944,659 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3619:Tas1r3
|
UTSW |
4 |
155,945,410 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3870:Tas1r3
|
UTSW |
4 |
155,945,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4194:Tas1r3
|
UTSW |
4 |
155,947,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4195:Tas1r3
|
UTSW |
4 |
155,947,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5577:Tas1r3
|
UTSW |
4 |
155,946,522 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6734:Tas1r3
|
UTSW |
4 |
155,945,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7006:Tas1r3
|
UTSW |
4 |
155,947,361 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7231:Tas1r3
|
UTSW |
4 |
155,947,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Tas1r3
|
UTSW |
4 |
155,946,480 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7895:Tas1r3
|
UTSW |
4 |
155,947,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8701:Tas1r3
|
UTSW |
4 |
155,945,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8796:Tas1r3
|
UTSW |
4 |
155,945,848 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8941:Tas1r3
|
UTSW |
4 |
155,947,600 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9371:Tas1r3
|
UTSW |
4 |
155,945,059 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9576:Tas1r3
|
UTSW |
4 |
155,946,822 (GRCm39) |
missense |
probably benign |
|
|
R9743:Tas1r3
|
UTSW |
4 |
155,945,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATTCAGGCAGTAGGGCAC -3'
(R):5'- GCAGAACTTCAGCTGGAACTGG -3'
Sequencing Primer
(F):5'- GCACCCCGCTGCAAAAAC -3'
(R):5'- CCGCCTTAGGGAGTGATGATGAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation