Incidental Mutation 'R2319:Gnat3'
| ID |
245578 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2319 (G1)
|
| Quality Score |
211 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
18167568-18224666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 18224624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 341
(D341E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030561]
|
| AlphaFold |
Q3V3I2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030561
AA Change: D341E
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000030561
Gene: ENSMUSG00000028777
AA Change: D341E
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
13 |
353 |
3.06e-221 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,897,505 (GRCm39) |
H273Q |
probably damaging |
Het |
| Ccdc186 |
A |
G |
19: 56,785,999 (GRCm39) |
S679P |
possibly damaging |
Het |
| Chac2 |
T |
A |
11: 30,936,252 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,814,417 (GRCm39) |
T532A |
unknown |
Het |
| Dsg1c |
A |
T |
18: 20,408,235 (GRCm39) |
Y428F |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Gm7489 |
A |
T |
15: 53,748,445 (GRCm39) |
|
probably benign |
Het |
| Lrpprc |
G |
A |
17: 85,033,818 (GRCm39) |
P1020S |
probably benign |
Het |
| Niban3 |
T |
C |
8: 72,055,408 (GRCm39) |
F273L |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,149,319 (GRCm39) |
S309G |
probably benign |
Het |
| Pik3cg |
T |
C |
12: 32,226,735 (GRCm39) |
I1051V |
probably damaging |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Rmnd1 |
A |
G |
10: 4,372,099 (GRCm39) |
V200A |
possibly damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,799,479 (GRCm39) |
N1076S |
probably benign |
Het |
| Rtn4 |
A |
G |
11: 29,657,154 (GRCm39) |
D436G |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,006,222 (GRCm39) |
|
probably null |
Het |
| Srsf3 |
G |
A |
17: 29,257,520 (GRCm39) |
R88Q |
unknown |
Het |
| Stxbp2 |
T |
C |
8: 3,683,834 (GRCm39) |
I90T |
possibly damaging |
Het |
| Tnr |
T |
A |
1: 159,677,618 (GRCm39) |
M1K |
probably null |
Het |
| Tns3 |
G |
A |
11: 8,491,200 (GRCm39) |
S119L |
probably damaging |
Het |
| Vmn1r2 |
A |
G |
4: 3,172,083 (GRCm39) |
M1V |
probably null |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
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 |
|
|
IGL01023:Gnat3
|
APN |
5 |
18,208,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACCTTGGACACATTGACTTTG -3'
(R):5'- CCGAATCCTGATATATGTGACACC -3'
Sequencing Primer
(F):5'- CCTTGGACACATTGACTTTGAAATTG -3'
(R):5'- GTGACACCACAGTAACATTTTTGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation