Incidental Mutation 'R5577:Tas1r3'
ID |
437249 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tas1r3
|
Ensembl Gene |
ENSMUSG00000029072 |
Gene Name |
taste receptor, type 1, member 3 |
Synonyms |
T1r3 |
MMRRC Submission |
043132-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R5577 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
155943725-155947810 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 155946522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 361
(E361G)
|
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 benign
Transcript: ENSMUST00000030949
AA Change: E361G
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000030949 Gene: ENSMUSG00000029072 AA Change: E361G
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: ENSMUST00000156997
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156266
|
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 |
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
A |
C |
7: 127,835,826 (GRCm39) |
Y256D |
probably damaging |
Het |
Acr |
C |
A |
15: 89,458,441 (GRCm39) |
T374K |
probably benign |
Het |
Akt2 |
G |
A |
7: 27,335,731 (GRCm39) |
G335R |
probably damaging |
Het |
Ccn3 |
T |
A |
15: 54,615,897 (GRCm39) |
I354N |
possibly damaging |
Het |
Cd177 |
A |
T |
7: 24,444,562 (GRCm39) |
F673Y |
probably damaging |
Het |
Clmn |
G |
T |
12: 104,743,329 (GRCm39) |
S879R |
probably damaging |
Het |
Csrp3 |
T |
C |
7: 48,489,225 (GRCm39) |
H19R |
possibly damaging |
Het |
Dmkn |
T |
C |
7: 30,463,971 (GRCm39) |
S137P |
probably damaging |
Het |
Eno1 |
C |
A |
4: 150,331,067 (GRCm39) |
Y236* |
probably null |
Het |
Enpp7 |
T |
A |
11: 118,882,953 (GRCm39) |
N342K |
probably benign |
Het |
Fancm |
T |
A |
12: 65,177,185 (GRCm39) |
|
probably benign |
Het |
Fshr |
A |
T |
17: 89,293,351 (GRCm39) |
D442E |
probably benign |
Het |
Gm3898 |
T |
A |
9: 43,741,362 (GRCm39) |
|
noncoding transcript |
Het |
Hdac7 |
A |
T |
15: 97,709,336 (GRCm39) |
S43T |
probably benign |
Het |
Herc1 |
T |
C |
9: 66,389,263 (GRCm39) |
C3927R |
probably damaging |
Het |
Klc4 |
G |
T |
17: 46,946,355 (GRCm39) |
A490D |
probably damaging |
Het |
Lcn9 |
T |
A |
2: 25,713,663 (GRCm39) |
I63N |
probably damaging |
Het |
Lgalsl |
G |
A |
11: 20,779,316 (GRCm39) |
Q110* |
probably null |
Het |
Lrp1b |
A |
T |
2: 40,765,135 (GRCm39) |
M2783K |
possibly damaging |
Het |
Lrrk2 |
A |
T |
15: 91,649,948 (GRCm39) |
Y1695F |
probably damaging |
Het |
Myo1e |
G |
A |
9: 70,277,753 (GRCm39) |
E817K |
probably benign |
Het |
Nav3 |
A |
T |
10: 109,605,264 (GRCm39) |
D936E |
probably damaging |
Het |
Necab3 |
T |
C |
2: 154,387,076 (GRCm39) |
|
probably null |
Het |
Nlrp1a |
T |
A |
11: 70,990,400 (GRCm39) |
I951F |
probably damaging |
Het |
Or5v1 |
T |
A |
17: 37,810,493 (GRCm39) |
I317K |
probably benign |
Het |
Or8b52 |
A |
G |
9: 38,576,297 (GRCm39) |
I281T |
possibly damaging |
Het |
Ppp2r5d |
T |
C |
17: 46,998,901 (GRCm39) |
S54G |
probably benign |
Het |
Prdx6 |
A |
G |
1: 161,071,255 (GRCm39) |
S146P |
probably damaging |
Het |
Sec24a |
A |
T |
11: 51,625,448 (GRCm39) |
H258Q |
probably benign |
Het |
Sec31a |
T |
C |
5: 100,550,133 (GRCm39) |
T194A |
possibly damaging |
Het |
Sqstm1 |
T |
C |
11: 50,098,266 (GRCm39) |
I167V |
probably benign |
Het |
Tlr1 |
T |
A |
5: 65,083,428 (GRCm39) |
Q383L |
possibly damaging |
Het |
Trappc8 |
G |
C |
18: 20,969,836 (GRCm39) |
Y1051* |
probably null |
Het |
Vmn2r2 |
T |
A |
3: 64,024,416 (GRCm39) |
M722L |
probably benign |
Het |
Vmn2r43 |
T |
C |
7: 8,247,811 (GRCm39) |
H784R |
probably damaging |
Het |
Zfp534 |
T |
G |
4: 147,759,173 (GRCm39) |
K499Q |
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 |
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 |
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'- TACCTGCCAGGGTAGAACATG -3'
(R):5'- TGAGTCTTGGCTGACATCTGAC -3'
Sequencing Primer
(F):5'- GAACATGTTCTGATACGTGGCAATG -3'
(R):5'- GACATCTGACCTGGTCATGAC -3'
|
Posted On |
2016-10-26 |