Incidental Mutation 'IGL01355:Tas2r108'
| ID |
75489 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tas2r108
|
| Ensembl Gene |
ENSMUSG00000037140 |
| Gene Name |
taste receptor, type 2, member 108 |
| Synonyms |
mt2r8, T2R8, T2R108, T2r8, mGR08 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL01355
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
40470526-40471419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40470685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 54
(T54A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038750]
[ENSMUST00000064932]
|
| AlphaFold |
Q9JKT3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038750
AA Change: T54A
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000044089
Gene: ENSMUSG00000037140
AA Change: T54A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
297 |
5e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064932
|
| SMART Domains |
Protein: ENSMUSP00000063743
Gene: ENSMUSG00000052850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
18 |
320 |
2.5e-91 |
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 encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajap1 |
C |
T |
4: 153,470,938 (GRCm39) |
V290I |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,277,335 (GRCm39) |
|
probably benign |
Het |
| Anxa4 |
A |
T |
6: 86,729,187 (GRCm39) |
I140N |
probably damaging |
Het |
| Asap2 |
A |
G |
12: 21,268,087 (GRCm39) |
|
probably benign |
Het |
| Cd36 |
C |
T |
5: 18,018,072 (GRCm39) |
V214I |
possibly damaging |
Het |
| Col24a1 |
T |
C |
3: 145,020,637 (GRCm39) |
L336S |
probably benign |
Het |
| Dcc |
C |
T |
18: 71,942,185 (GRCm39) |
V311I |
probably benign |
Het |
| Gpr146 |
A |
T |
5: 139,364,659 (GRCm39) |
|
probably benign |
Het |
| Irf1 |
T |
C |
11: 53,665,187 (GRCm39) |
V188A |
probably benign |
Het |
| Limk1 |
G |
A |
5: 134,686,754 (GRCm39) |
|
probably benign |
Het |
| Mcidas |
T |
C |
13: 113,135,603 (GRCm39) |
F342S |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,533,074 (GRCm39) |
T141A |
probably benign |
Het |
| Mnd1 |
C |
A |
3: 84,023,784 (GRCm39) |
A101S |
probably benign |
Het |
| Nsun7 |
T |
C |
5: 66,452,211 (GRCm39) |
S466P |
probably damaging |
Het |
| Or2m13 |
C |
T |
16: 19,226,333 (GRCm39) |
M145I |
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,137,438 (GRCm39) |
I296K |
probably benign |
Het |
| Or52z12 |
A |
G |
7: 103,233,580 (GRCm39) |
E117G |
probably damaging |
Het |
| Pik3c2g |
G |
T |
6: 139,798,583 (GRCm39) |
G371V |
probably damaging |
Het |
| Sdad1 |
A |
G |
5: 92,450,538 (GRCm39) |
V199A |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,943,637 (GRCm39) |
V172I |
probably benign |
Het |
| Tmem121b |
A |
G |
6: 120,469,427 (GRCm39) |
L430P |
probably damaging |
Het |
| Traf3ip1 |
A |
G |
1: 91,446,019 (GRCm39) |
D384G |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,588 (GRCm39) |
T871A |
possibly damaging |
Het |
| Vegfa |
T |
C |
17: 46,336,347 (GRCm39) |
M258V |
possibly damaging |
Het |
| Zbtb49 |
A |
G |
5: 38,367,960 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tas2r108 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01389:Tas2r108
|
APN |
6 |
40,470,866 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01603:Tas2r108
|
APN |
6 |
40,470,720 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
PIT4418001:Tas2r108
|
UTSW |
6 |
40,470,614 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1562:Tas2r108
|
UTSW |
6 |
40,471,000 (GRCm39) |
splice site |
probably null |
|
|
R1582:Tas2r108
|
UTSW |
6 |
40,470,566 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4544:Tas2r108
|
UTSW |
6 |
40,470,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5579:Tas2r108
|
UTSW |
6 |
40,471,021 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7840:Tas2r108
|
UTSW |
6 |
40,470,790 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9432:Tas2r108
|
UTSW |
6 |
40,471,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Tas2r108
|
UTSW |
6 |
40,470,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation