Incidental Mutation 'R0108:Tas2r120'
| ID |
262060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas2r120
|
| Ensembl Gene |
ENSMUSG00000059382 |
| Gene Name |
taste receptor, type 2, member 120 |
| Synonyms |
Tas2r20, mGR20, mt2r47, T2R20 |
| MMRRC Submission |
038394-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R0108 (G1)
|
| Quality Score |
146 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
132633920-132634807 bp(+) (GRCm39) |
| Type of Mutation |
splice site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 132634809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071707]
|
| AlphaFold |
Q7M721 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071707
|
| SMART Domains |
Protein: ENSMUSP00000071626
Gene: ENSMUSG00000059382
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
294 |
2.4e-77 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
T |
C |
15: 11,311,184 (GRCm39) |
V1147A |
probably benign |
Het |
| Arid5b |
T |
C |
10: 68,114,559 (GRCm39) |
|
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,230,130 (GRCm39) |
N655D |
possibly damaging |
Het |
| Jph4 |
T |
C |
14: 55,346,757 (GRCm39) |
R597G |
probably benign |
Het |
| Lonp2 |
G |
A |
8: 87,442,983 (GRCm39) |
V815I |
probably benign |
Het |
| Mpdz |
C |
T |
4: 81,300,042 (GRCm39) |
V319I |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,283,943 (GRCm39) |
V654A |
probably damaging |
Het |
| Nfyb |
G |
A |
10: 82,590,836 (GRCm39) |
A65V |
possibly damaging |
Het |
| Nod1 |
A |
G |
6: 54,920,734 (GRCm39) |
F528S |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,913,200 (GRCm39) |
D6939G |
probably damaging |
Het |
| Or2bd2 |
C |
T |
7: 6,443,399 (GRCm39) |
R167C |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,251,955 (GRCm39) |
|
probably null |
Het |
| Ptprj |
A |
T |
2: 90,300,121 (GRCm39) |
|
probably null |
Het |
| Sel1l3 |
C |
T |
5: 53,295,244 (GRCm39) |
A786T |
possibly damaging |
Het |
| Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
| Slc30a5 |
G |
T |
13: 100,939,908 (GRCm39) |
A669E |
probably damaging |
Het |
| Topaz1 |
A |
T |
9: 122,604,674 (GRCm39) |
I1093L |
probably benign |
Het |
| Vmn2r75 |
G |
A |
7: 85,814,866 (GRCm39) |
A209V |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,572,265 (GRCm39) |
T961A |
probably benign |
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 |
|
IGL01725:Tas2r120
|
APN |
6 |
132,634,052 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2015-02-04 |
Incidental Mutation