Incidental Mutation 'R4194:Tas1r3'
| ID |
318474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas1r3
|
| Ensembl Gene |
ENSMUSG00000029072 |
| Gene Name |
taste receptor, type 1, member 3 |
| Synonyms |
T1r3 |
| MMRRC Submission |
041025-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R4194 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155943725-155947810 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155947442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 81
(E81G)
|
| 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: E81G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030949
Gene: ENSMUSG00000029072
AA Change: E81G
| 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 |
|
| Meta Mutation Damage Score |
0.7045 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (54/55) |
| 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 |
|---|
| Adamtsl1 |
A |
T |
4: 85,972,245 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
C |
A |
13: 81,647,115 (GRCm39) |
V3142F |
probably damaging |
Het |
| Alms1 |
C |
T |
6: 85,654,972 (GRCm39) |
Q3173* |
probably null |
Het |
| Ankrd26 |
A |
G |
6: 118,500,639 (GRCm39) |
F944S |
probably benign |
Het |
| Arhgap11a |
G |
T |
2: 113,672,339 (GRCm39) |
H210N |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,416,113 (GRCm39) |
N674D |
probably benign |
Het |
| Bud13 |
T |
A |
9: 46,209,793 (GRCm39) |
V634E |
probably damaging |
Het |
| Capn13 |
C |
T |
17: 73,646,479 (GRCm39) |
M311I |
possibly damaging |
Het |
| Cdyl2 |
T |
C |
8: 117,305,903 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,720,501 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
C |
G |
9: 105,823,113 (GRCm39) |
E81D |
unknown |
Het |
| Ctbs |
C |
A |
3: 146,156,368 (GRCm39) |
H38N |
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,434,045 (GRCm39) |
D897G |
possibly damaging |
Het |
| Cyp2d41-ps |
T |
C |
15: 82,666,154 (GRCm39) |
|
noncoding transcript |
Het |
| Dnttip2 |
G |
A |
3: 122,074,410 (GRCm39) |
E616K |
probably damaging |
Het |
| Epb41l5 |
A |
T |
1: 119,535,823 (GRCm39) |
S348R |
probably damaging |
Het |
| Fam185a |
A |
G |
5: 21,630,452 (GRCm39) |
H96R |
probably benign |
Het |
| Fbxo11 |
T |
C |
17: 88,316,536 (GRCm39) |
D279G |
possibly damaging |
Het |
| Gm3952 |
C |
A |
8: 129,486,346 (GRCm39) |
G1578V |
probably damaging |
Het |
| Grb7 |
T |
A |
11: 98,345,881 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
A |
G |
16: 87,743,616 (GRCm39) |
V537A |
probably benign |
Het |
| H2-Eb2 |
T |
A |
17: 34,552,300 (GRCm39) |
N48K |
probably benign |
Het |
| Kank3 |
A |
G |
17: 34,041,237 (GRCm39) |
|
probably benign |
Het |
| Kifap3 |
T |
C |
1: 163,743,394 (GRCm39) |
S792P |
probably benign |
Het |
| Klhl35 |
A |
T |
7: 99,123,058 (GRCm39) |
|
probably null |
Het |
| Lpxn |
T |
C |
19: 12,810,599 (GRCm39) |
F348L |
probably damaging |
Het |
| Mef2d |
A |
G |
3: 88,065,610 (GRCm39) |
Y114C |
possibly damaging |
Het |
| Mfap3 |
T |
A |
11: 57,420,529 (GRCm39) |
L170H |
probably damaging |
Het |
| Mical1 |
C |
G |
10: 41,357,624 (GRCm39) |
F410L |
possibly damaging |
Het |
| Mppe1 |
G |
A |
18: 67,361,139 (GRCm39) |
S206F |
probably benign |
Het |
| Myo9b |
C |
T |
8: 71,812,268 (GRCm39) |
A2013V |
possibly damaging |
Het |
| Phactr3 |
T |
C |
2: 177,924,902 (GRCm39) |
V243A |
possibly damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,524,704 (GRCm39) |
L92P |
probably damaging |
Het |
| Prss59 |
A |
T |
6: 40,898,005 (GRCm39) |
V226E |
probably damaging |
Het |
| Rap1gds1 |
C |
T |
3: 138,664,851 (GRCm39) |
D236N |
probably damaging |
Het |
| Rnf8 |
T |
C |
17: 29,850,642 (GRCm39) |
|
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,434 (GRCm39) |
|
noncoding transcript |
Het |
| Sfta2 |
T |
C |
17: 35,939,057 (GRCm39) |
|
probably null |
Het |
| Sipa1l2 |
T |
A |
8: 126,218,411 (GRCm39) |
T309S |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,706,013 (GRCm39) |
D1186G |
probably benign |
Het |
| Sptb |
C |
A |
12: 76,659,784 (GRCm39) |
V1039F |
probably benign |
Het |
| Sycp3 |
T |
C |
10: 88,299,237 (GRCm39) |
V68A |
probably benign |
Het |
| Ttc3 |
G |
A |
16: 94,223,136 (GRCm39) |
R253H |
probably damaging |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,449 (GRCm39) |
T203A |
possibly damaging |
Het |
| Vtcn1 |
A |
T |
3: 100,795,525 (GRCm39) |
E164V |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,461,817 (GRCm39) |
T1121A |
unknown |
Het |
| Zfp473 |
T |
C |
7: 44,381,676 (GRCm39) |
I885V |
probably benign |
Het |
| Zfp990 |
A |
T |
4: 145,263,547 (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 |
|
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'- AGAACTTGCCTGTAATGAGGG -3'
(R):5'- ATCCCGTGCAACAGGTATGG -3'
Sequencing Primer
(F):5'- CCTGTAATGAGGGCAAGCTCTG -3'
(R):5'- CAGGTATGGAGGCTAGTAGCTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation