Incidental Mutation 'IGL01997:Gnat3'
ID |
182103 |
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 # |
IGL01997
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
18167568-18224666 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 18204721 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 125
(E125*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030561
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030561]
|
AlphaFold |
Q3V3I2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030561
AA Change: E125*
|
SMART Domains |
Protein: ENSMUSP00000030561 Gene: ENSMUSG00000028777 AA Change: E125*
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
G |
A |
1: 179,583,027 (GRCm39) |
T83I |
probably damaging |
Het |
Aoah |
A |
T |
13: 21,184,108 (GRCm39) |
M391L |
probably benign |
Het |
Apc |
A |
G |
18: 34,448,476 (GRCm39) |
T1757A |
probably benign |
Het |
B4galt5 |
A |
G |
2: 167,143,261 (GRCm39) |
Y388H |
probably benign |
Het |
Cyp3a25 |
A |
T |
5: 145,931,766 (GRCm39) |
M114K |
possibly damaging |
Het |
Dcbld1 |
A |
G |
10: 52,193,206 (GRCm39) |
E246G |
probably damaging |
Het |
Fstl4 |
T |
A |
11: 53,053,881 (GRCm39) |
Y404* |
probably null |
Het |
Hspa5 |
C |
T |
2: 34,662,327 (GRCm39) |
|
probably benign |
Het |
Krt72 |
A |
G |
15: 101,693,315 (GRCm39) |
S200P |
probably damaging |
Het |
Mab21l3 |
G |
A |
3: 101,725,955 (GRCm39) |
T347I |
probably damaging |
Het |
Map2k7 |
A |
G |
8: 4,293,442 (GRCm39) |
E104G |
probably benign |
Het |
Map3k9 |
T |
C |
12: 81,819,471 (GRCm39) |
D261G |
probably damaging |
Het |
Mepe |
C |
T |
5: 104,485,466 (GRCm39) |
P202L |
probably damaging |
Het |
Mill1 |
G |
A |
7: 17,989,814 (GRCm39) |
G32D |
probably damaging |
Het |
Mmp20 |
T |
G |
9: 7,639,261 (GRCm39) |
M143R |
probably benign |
Het |
Mms19 |
A |
T |
19: 41,944,970 (GRCm39) |
L302H |
probably damaging |
Het |
Myh13 |
T |
A |
11: 67,257,992 (GRCm39) |
I1728K |
probably benign |
Het |
Nsun2 |
C |
T |
13: 69,771,365 (GRCm39) |
P290L |
probably damaging |
Het |
Nwd2 |
A |
T |
5: 63,961,938 (GRCm39) |
R507S |
probably damaging |
Het |
Os9 |
T |
A |
10: 126,955,312 (GRCm39) |
H147L |
probably benign |
Het |
Piezo1 |
T |
C |
8: 123,215,070 (GRCm39) |
|
probably benign |
Het |
Plekhf1 |
A |
T |
7: 37,920,752 (GRCm39) |
V272D |
probably damaging |
Het |
Pnisr |
T |
C |
4: 21,871,537 (GRCm39) |
I419T |
possibly damaging |
Het |
Ppp1r3d |
G |
T |
2: 178,055,447 (GRCm39) |
T185K |
possibly damaging |
Het |
Ppp2r2a |
C |
T |
14: 67,253,968 (GRCm39) |
S400N |
probably benign |
Het |
Rpl21 |
T |
C |
5: 146,772,418 (GRCm39) |
I96T |
probably benign |
Het |
S1pr3 |
C |
T |
13: 51,573,751 (GRCm39) |
R311W |
probably damaging |
Het |
Senp5 |
T |
C |
16: 31,782,288 (GRCm39) |
K736R |
probably damaging |
Het |
Slfn9 |
T |
C |
11: 82,878,503 (GRCm39) |
I209V |
possibly damaging |
Het |
Traf3ip1 |
T |
A |
1: 91,435,292 (GRCm39) |
|
probably null |
Het |
Tyk2 |
A |
G |
9: 21,021,790 (GRCm39) |
F879L |
probably damaging |
Het |
Vmn2r53 |
T |
C |
7: 12,316,373 (GRCm39) |
D482G |
possibly damaging |
Het |
Vmn2r65 |
A |
G |
7: 84,589,978 (GRCm39) |
F646S |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,709,370 (GRCm39) |
S1772R |
probably damaging |
Het |
Vwde |
C |
T |
6: 13,215,705 (GRCm39) |
C117Y |
probably damaging |
Het |
Zfyve26 |
T |
C |
12: 79,291,174 (GRCm39) |
I2144V |
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 |
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 |
2014-05-07 |