Incidental Mutation 'IGL01725:Tas2r120'
| ID |
105234 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tas2r120
|
| Ensembl Gene |
ENSMUSG00000059382 |
| Gene Name |
taste receptor, type 2, member 120 |
| Synonyms |
Tas2r20, mGR20, mt2r47, T2R20 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
IGL01725
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
132633920-132634807 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 132634052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 45
(R45*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071707]
|
| AlphaFold |
Q7M721 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071707
AA Change: R45*
|
| SMART Domains |
Protein: ENSMUSP00000071626
Gene: ENSMUSG00000059382
AA Change: R45*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
294 |
2.4e-77 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TAS2R46 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Sep 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,853,767 (GRCm39) |
I297F |
probably damaging |
Het |
| Abcc4 |
A |
T |
14: 118,738,241 (GRCm39) |
L1170I |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,781,206 (GRCm39) |
D2086G |
probably benign |
Het |
| Arhgap11a |
A |
T |
2: 113,667,897 (GRCm39) |
V368D |
probably damaging |
Het |
| Ccdc138 |
A |
G |
10: 58,364,745 (GRCm39) |
T334A |
possibly damaging |
Het |
| Ctnna2 |
T |
C |
6: 77,618,348 (GRCm39) |
R205G |
possibly damaging |
Het |
| Galnt4 |
A |
G |
10: 98,945,819 (GRCm39) |
M515V |
probably damaging |
Het |
| Grhl1 |
T |
C |
12: 24,659,747 (GRCm39) |
|
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,065,245 (GRCm39) |
T145A |
probably benign |
Het |
| Kntc1 |
G |
A |
5: 123,902,253 (GRCm39) |
V299I |
probably benign |
Het |
| Lin28a |
G |
A |
4: 133,735,241 (GRCm39) |
R52* |
probably null |
Het |
| Mast4 |
A |
T |
13: 102,887,020 (GRCm39) |
|
probably null |
Het |
| Nme4 |
G |
A |
17: 26,311,040 (GRCm39) |
A175V |
probably benign |
Het |
| Or1e1c |
A |
T |
11: 73,265,982 (GRCm39) |
M136L |
probably benign |
Het |
| Or51ah3 |
T |
A |
7: 103,210,282 (GRCm39) |
Y199* |
probably null |
Het |
| Pi16 |
T |
A |
17: 29,545,294 (GRCm39) |
S186T |
probably damaging |
Het |
| Pigc |
T |
A |
1: 161,798,914 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 72,005,218 (GRCm39) |
I222L |
probably benign |
Het |
| Scap |
T |
A |
9: 110,210,622 (GRCm39) |
|
probably benign |
Het |
| Sec24a |
A |
C |
11: 51,614,405 (GRCm39) |
|
probably null |
Het |
| Sh3tc1 |
T |
C |
5: 35,857,660 (GRCm39) |
E1176G |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,104,645 (GRCm39) |
D255E |
probably benign |
Het |
| Slc16a9 |
T |
C |
10: 70,119,815 (GRCm39) |
M486T |
probably benign |
Het |
| Slc28a3 |
A |
G |
13: 58,726,324 (GRCm39) |
F155S |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,017,508 (GRCm39) |
V435A |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,693,155 (GRCm39) |
R324G |
probably damaging |
Het |
| Tfcp2l1 |
T |
C |
1: 118,596,366 (GRCm39) |
V367A |
possibly damaging |
Het |
| Vmn2r116 |
A |
T |
17: 23,605,619 (GRCm39) |
D177V |
probably damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,208,594 (GRCm39) |
S628P |
probably damaging |
Het |
|
| Other mutations in Tas2r120 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00694:Tas2r120
|
APN |
6 |
132,634,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01860:Tas2r120
|
APN |
6 |
132,634,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01891:Tas2r120
|
APN |
6 |
132,634,807 (GRCm39) |
makesense |
probably null |
|
|
PIT4519001:Tas2r120
|
UTSW |
6 |
132,634,297 (GRCm39) |
missense |
probably benign |
|
|
R0104:Tas2r120
|
UTSW |
6 |
132,634,809 (GRCm39) |
splice site |
probably null |
|
|
R0108:Tas2r120
|
UTSW |
6 |
132,634,809 (GRCm39) |
splice site |
probably null |
|
|
R0123:Tas2r120
|
UTSW |
6 |
132,634,552 (GRCm39) |
nonsense |
probably null |
|
|
R0225:Tas2r120
|
UTSW |
6 |
132,634,552 (GRCm39) |
nonsense |
probably null |
|
|
R1812:Tas2r120
|
UTSW |
6 |
132,634,564 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2254:Tas2r120
|
UTSW |
6 |
132,634,572 (GRCm39) |
missense |
probably benign |
|
|
R3110:Tas2r120
|
UTSW |
6 |
132,634,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3112:Tas2r120
|
UTSW |
6 |
132,634,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4829:Tas2r120
|
UTSW |
6 |
132,634,331 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5248:Tas2r120
|
UTSW |
6 |
132,634,110 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5372:Tas2r120
|
UTSW |
6 |
132,634,446 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6379:Tas2r120
|
UTSW |
6 |
132,634,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7015:Tas2r120
|
UTSW |
6 |
132,634,128 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7615:Tas2r120
|
UTSW |
6 |
132,634,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8004:Tas2r120
|
UTSW |
6 |
132,634,390 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8796:Tas2r120
|
UTSW |
6 |
132,634,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9207:Tas2r120
|
UTSW |
6 |
132,634,626 (GRCm39) |
nonsense |
probably null |
|
|
R9250:Tas2r120
|
UTSW |
6 |
132,633,954 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9792:Tas2r120
|
UTSW |
6 |
132,634,528 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Tas2r120
|
UTSW |
6 |
132,634,148 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-01-21 |
Incidental Mutation