Incidental Mutation 'R3870:Tas1r3'
| ID |
276494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas1r3
|
| Ensembl Gene |
ENSMUSG00000029072 |
| Gene Name |
taste receptor, type 1, member 3 |
| Synonyms |
T1r3 |
| MMRRC Submission |
040789-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R3870 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155943725-155947810 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 155945810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 529
(C529S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030948]
[ENSMUST00000030949]
[ENSMUST00000030950]
[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: C529S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030949
Gene: ENSMUSG00000029072
AA Change: C529S
| 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 |
noncoding transcript
Transcript: ENSMUST00000156266
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156997
|
| 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 |
0.9542 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
90% (61/68) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028J19Rik |
T |
A |
7: 43,880,828 (GRCm39) |
|
probably null |
Het |
| Adam22 |
C |
A |
5: 8,182,418 (GRCm39) |
C514F |
probably damaging |
Het |
| Akap8 |
G |
A |
17: 32,536,813 (GRCm39) |
|
probably benign |
Het |
| Armcx2 |
A |
T |
X: 133,707,048 (GRCm39) |
V195E |
probably benign |
Het |
| Atg7 |
T |
C |
6: 114,674,008 (GRCm39) |
S301P |
possibly damaging |
Het |
| Cc2d2a |
C |
A |
5: 43,876,033 (GRCm39) |
Y1003* |
probably null |
Het |
| Ccdc93 |
A |
G |
1: 121,390,843 (GRCm39) |
S272G |
probably benign |
Het |
| Ces1d |
C |
G |
8: 93,901,714 (GRCm39) |
L418F |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 115,987,979 (GRCm39) |
E170G |
probably damaging |
Het |
| Cplane1 |
A |
T |
15: 8,247,948 (GRCm39) |
K1499M |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Ehd4 |
T |
A |
2: 119,967,434 (GRCm39) |
D120V |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,824,211 (GRCm39) |
V71E |
probably damaging |
Het |
| Exoc5 |
A |
G |
14: 49,256,853 (GRCm39) |
|
probably benign |
Het |
| Glud1 |
T |
A |
14: 34,047,537 (GRCm39) |
|
probably benign |
Het |
| Gm10985 |
TTCTCTCTCTCTCTCTCT |
TTCTCTCTCTCTCTCT |
3: 53,752,626 (GRCm39) |
|
probably null |
Het |
| Gm11555 |
G |
T |
11: 99,540,816 (GRCm39) |
C64* |
probably null |
Het |
| Gm5468 |
A |
G |
15: 25,414,561 (GRCm39) |
|
probably benign |
Het |
| Gpatch2 |
T |
A |
1: 187,054,491 (GRCm39) |
L74Q |
probably damaging |
Het |
| Hnrnpa0 |
G |
A |
13: 58,275,713 (GRCm39) |
R139C |
probably damaging |
Het |
| Hrh1 |
A |
G |
6: 114,457,880 (GRCm39) |
Y387C |
probably damaging |
Het |
| Ldb3 |
A |
T |
14: 34,289,440 (GRCm39) |
D216E |
probably damaging |
Het |
| Lingo1 |
A |
T |
9: 56,527,009 (GRCm39) |
S533T |
probably benign |
Het |
| Lmtk2 |
T |
G |
5: 144,103,245 (GRCm39) |
|
probably benign |
Het |
| Map1s |
A |
G |
8: 71,369,745 (GRCm39) |
E939G |
possibly damaging |
Het |
| Mast1 |
G |
A |
8: 85,645,360 (GRCm39) |
T695I |
probably damaging |
Het |
| Mettl21e |
G |
A |
1: 44,245,524 (GRCm39) |
R241W |
probably benign |
Het |
| Mfsd4a |
G |
A |
1: 131,974,091 (GRCm39) |
T261I |
probably damaging |
Het |
| Mmel1 |
T |
C |
4: 154,968,095 (GRCm39) |
S144P |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,492,239 (GRCm39) |
H727L |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,257,477 (GRCm39) |
|
probably null |
Het |
| Nipa2 |
T |
C |
7: 55,582,690 (GRCm39) |
R352G |
probably damaging |
Het |
| Oaf |
C |
T |
9: 43,134,055 (GRCm39) |
R222Q |
probably benign |
Het |
| Or2ag2b |
T |
A |
7: 106,418,047 (GRCm39) |
Y252* |
probably null |
Het |
| Pard3 |
T |
C |
8: 128,136,167 (GRCm39) |
S847P |
probably damaging |
Het |
| Pgbd1 |
C |
T |
13: 21,618,540 (GRCm39) |
R39H |
possibly damaging |
Het |
| Plcb1 |
A |
C |
2: 135,167,591 (GRCm39) |
I462L |
probably damaging |
Het |
| Prex2 |
T |
C |
1: 11,230,416 (GRCm39) |
V814A |
possibly damaging |
Het |
| Rasal3 |
G |
A |
17: 32,612,522 (GRCm39) |
R780W |
possibly damaging |
Het |
| Rubcnl |
C |
T |
14: 75,278,356 (GRCm39) |
P380L |
probably benign |
Het |
| Ryk |
A |
G |
9: 102,768,427 (GRCm39) |
E359G |
probably damaging |
Het |
| Sall2 |
C |
A |
14: 52,551,451 (GRCm39) |
L579F |
probably damaging |
Het |
| Satb2 |
A |
G |
1: 56,930,379 (GRCm39) |
S215P |
probably damaging |
Het |
| Scg3 |
T |
C |
9: 75,582,781 (GRCm39) |
|
probably benign |
Het |
| Slc35f5 |
A |
G |
1: 125,490,098 (GRCm39) |
T65A |
probably benign |
Het |
| Snx33 |
T |
C |
9: 56,834,024 (GRCm39) |
N15S |
probably benign |
Het |
| Stat2 |
T |
A |
10: 128,113,762 (GRCm39) |
S180R |
probably benign |
Het |
| Stxbp2 |
A |
G |
8: 3,684,079 (GRCm39) |
T129A |
probably damaging |
Het |
| Tlr12 |
T |
A |
4: 128,510,361 (GRCm39) |
M630L |
probably benign |
Het |
| Tnfrsf10b |
T |
G |
14: 70,010,905 (GRCm39) |
D103E |
probably benign |
Het |
| Togaram1 |
A |
C |
12: 65,049,419 (GRCm39) |
E1285D |
probably benign |
Het |
| Tppp |
A |
G |
13: 74,178,891 (GRCm39) |
T111A |
probably benign |
Het |
| Trim12c |
T |
C |
7: 103,997,544 (GRCm39) |
Q4R |
probably benign |
Het |
| Ttbk2 |
T |
G |
2: 120,570,500 (GRCm39) |
S1149R |
probably damaging |
Het |
| Uncx |
T |
C |
5: 139,533,120 (GRCm39) |
L395P |
probably damaging |
Het |
| Usp14 |
A |
G |
18: 10,002,370 (GRCm39) |
S314P |
possibly damaging |
Het |
| Usp32 |
A |
T |
11: 84,897,881 (GRCm39) |
Y1153* |
probably null |
Het |
| Vmn2r6 |
T |
C |
3: 64,464,042 (GRCm39) |
E264G |
probably damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,461,050 (GRCm39) |
F792S |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,792,008 (GRCm39) |
I425V |
probably benign |
Het |
| Vstm4 |
C |
T |
14: 32,585,712 (GRCm39) |
A93V |
probably benign |
Het |
| Xrcc6 |
T |
A |
15: 81,909,885 (GRCm39) |
S97T |
probably benign |
Het |
| Zscan20 |
A |
G |
4: 128,480,218 (GRCm39) |
C758R |
probably damaging |
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 |
|
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 |
|
R4420:Tas1r3
|
UTSW |
4 |
155,946,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- AAAAGTAATGTGGGGTCTGCTG -3'
(R):5'- TAAAATGTACTGGCCAGGCAAC -3'
Sequencing Primer
(F):5'- AATGTGGGGTCTGCTGATGGG -3'
(R):5'- CCAGGCAACCAGGTAAGGAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation