Incidental Mutation 'IGL01023:Gnat3'
| ID |
53596 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gnat3
|
| Ensembl Gene |
ENSMUSG00000028777 |
| Gene Name |
G protein subunit alpha transducin 3 |
| Synonyms |
Gtn, Ggust, alpha-gustducin |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01023
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
18167568-18224666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18208826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 177
(S177P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030561]
|
| AlphaFold |
Q3V3I2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030561
AA Change: S177P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030561
Gene: ENSMUSG00000028777
AA Change: S177P
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
13 |
353 |
3.06e-221 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sweet, bitter, and umami tastes are transmitted from taste receptors by a specific guanine nucleotide binding protein. The protein encoded by this gene is the alpha subunit of this heterotrimeric G protein, which is found not only in the oral epithelium but also in gut tissues. Variations in this gene have been linked to metabolic syndrome. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mutation of this gene results in abnormal taste sensitivity. Mice show reduced behavioral and electrophysiological responses to bitter, sweet, and unami compounds. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
G |
2: 128,471,649 (GRCm39) |
L1472P |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,906,809 (GRCm39) |
V1151M |
probably damaging |
Het |
| Crmp1 |
A |
T |
5: 37,433,657 (GRCm39) |
D286V |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,395,548 (GRCm39) |
I162F |
probably damaging |
Het |
| Fam24b |
A |
T |
7: 130,927,903 (GRCm39) |
C95* |
probably null |
Het |
| Fsd1 |
A |
G |
17: 56,295,245 (GRCm39) |
Y78C |
probably damaging |
Het |
| Galc |
C |
T |
12: 98,197,681 (GRCm39) |
V343I |
probably benign |
Het |
| Glis2 |
C |
T |
16: 4,429,514 (GRCm39) |
R214C |
probably damaging |
Het |
| Gm14406 |
A |
T |
2: 177,261,032 (GRCm39) |
C416S |
probably damaging |
Het |
| Higd1a |
C |
T |
9: 121,678,749 (GRCm39) |
G80D |
possibly damaging |
Het |
| Hp1bp3 |
T |
C |
4: 137,967,940 (GRCm39) |
V421A |
possibly damaging |
Het |
| Ipo11 |
A |
T |
13: 107,033,767 (GRCm39) |
F238L |
probably benign |
Het |
| Med26 |
A |
T |
8: 73,249,718 (GRCm39) |
F460L |
possibly damaging |
Het |
| Or5as1 |
T |
A |
2: 86,980,169 (GRCm39) |
T279S |
possibly damaging |
Het |
| Osbp2 |
T |
C |
11: 3,813,387 (GRCm39) |
I161V |
probably benign |
Het |
| Prr5 |
T |
C |
15: 84,583,856 (GRCm39) |
V152A |
possibly damaging |
Het |
| Prx |
T |
A |
7: 27,218,844 (GRCm39) |
I1115K |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,810,690 (GRCm39) |
I708M |
probably benign |
Het |
| Robo3 |
T |
C |
9: 37,340,847 (GRCm39) |
T120A |
probably damaging |
Het |
| Setd2 |
C |
A |
9: 110,376,581 (GRCm39) |
S132* |
probably null |
Het |
| Slc9a1 |
A |
G |
4: 133,149,454 (GRCm39) |
E760G |
probably benign |
Het |
| Slco1a7 |
A |
G |
6: 141,700,155 (GRCm39) |
S126P |
probably benign |
Het |
| Stx16 |
A |
T |
2: 173,934,202 (GRCm39) |
H135L |
probably damaging |
Het |
| Tas2r131 |
A |
T |
6: 132,934,764 (GRCm39) |
L15Q |
probably damaging |
Het |
| Thoc2l |
T |
A |
5: 104,668,366 (GRCm39) |
W963R |
probably damaging |
Het |
| Tmcc1 |
A |
G |
6: 116,019,988 (GRCm39) |
L128P |
probably damaging |
Het |
| Tmem269 |
C |
A |
4: 119,066,511 (GRCm39) |
M182I |
probably benign |
Het |
| Tnfaip8l2 |
A |
G |
3: 95,047,726 (GRCm39) |
S46P |
probably damaging |
Het |
| Trim30c |
A |
G |
7: 104,032,179 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,114,469 (GRCm39) |
E184K |
probably benign |
Het |
| Wfs1 |
A |
T |
5: 37,125,261 (GRCm39) |
C467* |
probably null |
Het |
| Zfp78 |
G |
A |
7: 6,378,587 (GRCm39) |
G77D |
possibly damaging |
Het |
|
| Other mutations in Gnat3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00941:Gnat3
|
APN |
5 |
18,208,749 (GRCm39) |
splice site |
probably benign |
|
|
IGL01997:Gnat3
|
APN |
5 |
18,204,721 (GRCm39) |
nonsense |
probably null |
|
|
PIT4377001:Gnat3
|
UTSW |
5 |
18,220,557 (GRCm39) |
missense |
|
|
|
R0556:Gnat3
|
UTSW |
5 |
18,224,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1624:Gnat3
|
UTSW |
5 |
18,208,841 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1934:Gnat3
|
UTSW |
5 |
18,224,508 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2319:Gnat3
|
UTSW |
5 |
18,224,624 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3928:Gnat3
|
UTSW |
5 |
18,208,892 (GRCm39) |
splice site |
probably benign |
|
|
R4169:Gnat3
|
UTSW |
5 |
18,208,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4420:Gnat3
|
UTSW |
5 |
18,204,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4632:Gnat3
|
UTSW |
5 |
18,220,364 (GRCm39) |
splice site |
probably null |
|
|
R4651:Gnat3
|
UTSW |
5 |
18,220,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Gnat3
|
UTSW |
5 |
18,220,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5471:Gnat3
|
UTSW |
5 |
18,196,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7460:Gnat3
|
UTSW |
5 |
18,204,656 (GRCm39) |
missense |
|
|
|
R7627:Gnat3
|
UTSW |
5 |
18,204,746 (GRCm39) |
missense |
|
|
|
R7637:Gnat3
|
UTSW |
5 |
18,208,770 (GRCm39) |
missense |
|
|
|
R8342:Gnat3
|
UTSW |
5 |
18,208,838 (GRCm39) |
missense |
|
|
|
R8428:Gnat3
|
UTSW |
5 |
18,220,312 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
X0064:Gnat3
|
UTSW |
5 |
18,208,838 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Z1088:Gnat3
|
UTSW |
5 |
18,220,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gnat3
|
UTSW |
5 |
18,220,311 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-06-28 |
Incidental Mutation