Incidental Mutation 'IGL01554:Tas2r130'
| ID |
90671 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tas2r130
|
| Ensembl Gene |
ENSMUSG00000054497 |
| Gene Name |
taste receptor, type 2, member 130 |
| Synonyms |
T2R30, mt2r42, Tas2r30, STC 7-4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL01554
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
131606855-131607793 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 131607046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 250
(A250T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067597]
|
| AlphaFold |
P59530 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067597
AA Change: A250T
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000063954
Gene: ENSMUSG00000054497
AA Change: A250T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
304 |
1.7e-110 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,932,992 (GRCm39) |
I1211V |
probably benign |
Het |
| Adgre4 |
A |
G |
17: 56,124,090 (GRCm39) |
S497G |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,459,601 (GRCm39) |
M65T |
possibly damaging |
Het |
| Entrep3 |
A |
G |
3: 89,092,888 (GRCm39) |
T257A |
probably damaging |
Het |
| Ermard |
A |
G |
17: 15,271,855 (GRCm39) |
D338G |
possibly damaging |
Het |
| Espl1 |
T |
C |
15: 102,221,660 (GRCm39) |
L983P |
probably damaging |
Het |
| Ext2 |
A |
C |
2: 93,642,294 (GRCm39) |
L192V |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,409,403 (GRCm39) |
Y241F |
probably benign |
Het |
| Fbxl12 |
G |
A |
9: 20,550,215 (GRCm39) |
P170S |
possibly damaging |
Het |
| Fsip2 |
C |
A |
2: 82,807,622 (GRCm39) |
P1314T |
possibly damaging |
Het |
| Greb1l |
A |
G |
18: 10,522,144 (GRCm39) |
R747G |
probably benign |
Het |
| Hspa1a |
G |
T |
17: 35,189,500 (GRCm39) |
P468T |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,356,976 (GRCm39) |
C1028R |
probably damaging |
Het |
| Lcn8 |
C |
T |
2: 25,544,198 (GRCm39) |
A40V |
possibly damaging |
Het |
| Lmbrd2 |
A |
G |
15: 9,165,906 (GRCm39) |
Y260C |
possibly damaging |
Het |
| Mex3d |
G |
T |
10: 80,217,869 (GRCm39) |
N449K |
possibly damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,696 (GRCm39) |
N156S |
probably damaging |
Het |
| Ncam2 |
A |
G |
16: 81,309,823 (GRCm39) |
K438E |
possibly damaging |
Het |
| Nudt7 |
A |
G |
8: 114,874,625 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
C |
A |
2: 31,941,084 (GRCm39) |
S39* |
probably null |
Het |
| Opn5 |
A |
G |
17: 42,918,089 (GRCm39) |
S58P |
probably damaging |
Het |
| Or6c74 |
T |
C |
10: 129,870,052 (GRCm39) |
S186P |
probably damaging |
Het |
| Or7e173 |
T |
C |
9: 19,938,704 (GRCm39) |
I177V |
possibly damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,280,426 (GRCm39) |
N750K |
probably benign |
Het |
| Pdzrn3 |
T |
C |
6: 101,127,502 (GRCm39) |
N1055D |
probably damaging |
Het |
| Phf2 |
T |
A |
13: 48,959,355 (GRCm39) |
K884* |
probably null |
Het |
| Prkdc |
A |
G |
16: 15,470,166 (GRCm39) |
N191S |
probably benign |
Het |
| Prpf8 |
A |
T |
11: 75,386,472 (GRCm39) |
Q987L |
probably damaging |
Het |
| Prrc2c |
G |
A |
1: 162,538,355 (GRCm39) |
P425L |
probably damaging |
Het |
| Rab36 |
T |
C |
10: 74,886,520 (GRCm39) |
I166T |
possibly damaging |
Het |
| Rab3gap1 |
G |
T |
1: 127,855,745 (GRCm39) |
L461F |
possibly damaging |
Het |
| Rnls |
A |
T |
19: 33,368,499 (GRCm39) |
Y27N |
possibly damaging |
Het |
| Sncaip |
A |
T |
18: 53,002,006 (GRCm39) |
I176F |
possibly damaging |
Het |
| Tagap |
G |
A |
17: 8,151,780 (GRCm39) |
G322S |
probably benign |
Het |
| Tgs1 |
A |
G |
4: 3,593,632 (GRCm39) |
S507G |
probably null |
Het |
| Ttn |
T |
C |
2: 76,706,056 (GRCm39) |
|
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,737,548 (GRCm39) |
K246E |
possibly damaging |
Het |
|
| Other mutations in Tas2r130 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00918:Tas2r130
|
APN |
6 |
131,607,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01412:Tas2r130
|
APN |
6 |
131,607,473 (GRCm39) |
nonsense |
probably null |
|
|
IGL01789:Tas2r130
|
APN |
6 |
131,607,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1552:Tas2r130
|
UTSW |
6 |
131,607,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1848:Tas2r130
|
UTSW |
6 |
131,607,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2020:Tas2r130
|
UTSW |
6 |
131,607,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Tas2r130
|
UTSW |
6 |
131,607,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2518:Tas2r130
|
UTSW |
6 |
131,607,036 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3810:Tas2r130
|
UTSW |
6 |
131,607,792 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R5666:Tas2r130
|
UTSW |
6 |
131,607,342 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6225:Tas2r130
|
UTSW |
6 |
131,607,547 (GRCm39) |
small deletion |
probably benign |
|
|
R7180:Tas2r130
|
UTSW |
6 |
131,607,211 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7284:Tas2r130
|
UTSW |
6 |
131,607,270 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7385:Tas2r130
|
UTSW |
6 |
131,607,226 (GRCm39) |
missense |
probably benign |
|
|
R8424:Tas2r130
|
UTSW |
6 |
131,607,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8845:Tas2r130
|
UTSW |
6 |
131,607,642 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9164:Tas2r130
|
UTSW |
6 |
131,606,975 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9409:Tas2r130
|
UTSW |
6 |
131,607,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9561:Tas2r130
|
UTSW |
6 |
131,607,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9757:Tas2r130
|
UTSW |
6 |
131,607,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-12-09 |
Incidental Mutation