Incidental Mutation 'IGL02999:Tas1r3'
| ID |
407228 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tas1r3
|
| Ensembl Gene |
ENSMUSG00000029072 |
| Gene Name |
taste receptor, type 1, member 3 |
| Synonyms |
T1r3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
IGL02999
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
155943725-155947810 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155946816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 263
(V263A)
|
| 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: V263A
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000030949
Gene: ENSMUSG00000029072
AA Change: V263A
| 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: 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 |
|
| Coding Region Coverage |
|
| 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 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
A |
10: 78,903,424 (GRCm39) |
R297S |
possibly damaging |
Het |
| Abca13 |
G |
A |
11: 9,531,757 (GRCm39) |
|
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,908,100 (GRCm39) |
V94D |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,726,973 (GRCm39) |
A460T |
probably benign |
Het |
| Atp8a2 |
C |
A |
14: 60,162,571 (GRCm39) |
E717* |
probably null |
Het |
| Brinp3 |
A |
T |
1: 146,577,587 (GRCm39) |
|
probably null |
Het |
| Camk1d |
C |
A |
2: 5,359,516 (GRCm39) |
V177L |
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,538 (GRCm39) |
I322V |
possibly damaging |
Het |
| Cobl |
T |
C |
11: 12,293,869 (GRCm39) |
T296A |
possibly damaging |
Het |
| Dcc |
A |
C |
18: 71,511,749 (GRCm39) |
F869V |
possibly damaging |
Het |
| Dock2 |
G |
T |
11: 34,583,086 (GRCm39) |
T609K |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,814 (GRCm39) |
T576A |
probably benign |
Het |
| Faf1 |
A |
G |
4: 109,719,090 (GRCm39) |
I399V |
probably benign |
Het |
| Fndc3b |
T |
G |
3: 27,592,388 (GRCm39) |
E170A |
probably damaging |
Het |
| Ggt7 |
C |
A |
2: 155,344,633 (GRCm39) |
V237L |
probably benign |
Het |
| Hectd1 |
G |
T |
12: 51,874,205 (GRCm39) |
Q24K |
possibly damaging |
Het |
| Krt19 |
T |
C |
11: 100,032,235 (GRCm39) |
|
probably benign |
Het |
| Lilrb4a |
T |
C |
10: 51,370,239 (GRCm39) |
L259P |
probably damaging |
Het |
| Limd1 |
T |
C |
9: 123,345,864 (GRCm39) |
Y548H |
probably damaging |
Het |
| Lingo2 |
A |
G |
4: 35,708,744 (GRCm39) |
I412T |
probably damaging |
Het |
| Lrrc34 |
T |
A |
3: 30,688,782 (GRCm39) |
Q173L |
probably damaging |
Het |
| Lrrn3 |
A |
T |
12: 41,502,750 (GRCm39) |
N522K |
probably benign |
Het |
| Mgat4e |
A |
C |
1: 134,468,928 (GRCm39) |
L372R |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,331,778 (GRCm39) |
D638G |
probably damaging |
Het |
| Olfm3 |
T |
C |
3: 114,916,397 (GRCm39) |
M423T |
probably damaging |
Het |
| Or8g54 |
T |
C |
9: 39,706,752 (GRCm39) |
L27P |
probably damaging |
Het |
| Pcsk7 |
T |
A |
9: 45,838,897 (GRCm39) |
I603N |
possibly damaging |
Het |
| Ptpn2 |
A |
G |
18: 67,814,580 (GRCm39) |
V143A |
probably damaging |
Het |
| Rabgap1 |
C |
A |
2: 37,373,838 (GRCm39) |
D283E |
possibly damaging |
Het |
| Reln |
G |
A |
5: 22,200,363 (GRCm39) |
S1379F |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,749,697 (GRCm39) |
F74I |
possibly damaging |
Het |
| Sel1l2 |
T |
C |
2: 140,072,724 (GRCm39) |
E637G |
probably damaging |
Het |
| Slc28a2b |
T |
C |
2: 122,344,995 (GRCm39) |
|
probably benign |
Het |
| St18 |
T |
A |
1: 6,887,829 (GRCm39) |
V466E |
probably benign |
Het |
| Stac |
C |
A |
9: 111,433,198 (GRCm39) |
G207C |
probably damaging |
Het |
| Stra6 |
T |
A |
9: 58,042,396 (GRCm39) |
N8K |
probably benign |
Het |
| Sytl4 |
C |
T |
X: 132,838,727 (GRCm39) |
R649Q |
probably benign |
Het |
| Tprg1 |
T |
C |
16: 25,136,218 (GRCm39) |
Y70H |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation