Incidental Mutation 'IGL01891:Tas2r120'
| ID |
179249 |
| 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 # |
IGL01891
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
132633920-132634807 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 132634807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 296
(*296W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071707]
|
| AlphaFold |
Q7M721 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071707
AA Change: *296W
|
| SMART Domains |
Protein: ENSMUSP00000071626
Gene: ENSMUSG00000059382
AA Change: *296W
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat2 |
T |
C |
4: 49,383,395 (GRCm39) |
T53A |
probably benign |
Het |
| Aoc1 |
A |
G |
6: 48,885,776 (GRCm39) |
|
probably benign |
Het |
| Ctsf |
G |
A |
19: 4,906,595 (GRCm39) |
R174Q |
probably damaging |
Het |
| Ddo |
T |
C |
10: 40,523,643 (GRCm39) |
V211A |
possibly damaging |
Het |
| Ermp1 |
T |
C |
19: 29,594,002 (GRCm39) |
I723V |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| H2-M3 |
T |
G |
17: 37,583,608 (GRCm39) |
I322S |
probably benign |
Het |
| Npc1l1 |
T |
C |
11: 6,164,280 (GRCm39) |
T1206A |
probably damaging |
Het |
| Pold3 |
A |
T |
7: 99,737,352 (GRCm39) |
|
probably benign |
Het |
| Ripor3 |
T |
C |
2: 167,825,071 (GRCm39) |
T813A |
possibly damaging |
Het |
| Suco |
T |
C |
1: 161,666,371 (GRCm39) |
N510D |
probably damaging |
Het |
| Tox2 |
G |
T |
2: 163,164,903 (GRCm39) |
K514N |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,163,571 (GRCm39) |
|
probably null |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zbtb1 |
T |
A |
12: 76,432,435 (GRCm39) |
F140L |
probably damaging |
Het |
| Zc3h14 |
T |
C |
12: 98,725,206 (GRCm39) |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation