Incidental Mutation 'IGL00790:Gnal'
ID |
11046 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gnal
|
Ensembl Gene |
ENSMUSG00000024524 |
Gene Name |
guanine nucleotide binding protein, alpha stimulating, olfactory type |
Synonyms |
2610011C15Rik, G alpha 10, Galphaolf, 9630020G10Rik, Gna10, Golf |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.757)
|
Stock # |
IGL00790
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
67221369-67359863 bp(+) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
A to G
at 67267360 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075908
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025402]
[ENSMUST00000076605]
|
AlphaFold |
Q8CGK7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025402
|
SMART Domains |
Protein: ENSMUSP00000025402 Gene: ENSMUSG00000024524
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
46 |
N/A |
INTRINSIC |
G_alpha
|
89 |
447 |
1.18e-172 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000076605
|
SMART Domains |
Protein: ENSMUSP00000075908 Gene: ENSMUSG00000024524
Domain | Start | End | E-Value | Type |
G_alpha
|
22 |
380 |
5.02e-176 |
SMART |
|
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 stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] PHENOTYPE: Homozygous for a targeted mutation fail to feed, and ~75% die within 2 days after birth. Rare survivors reach sexual maturity and mate but are hyperactive and anosmic, exhibitng severely reduced odor-evoked electrophysical responses and significantly perturbed maternal behaviors. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd12 |
A |
T |
17: 66,291,175 (GRCm39) |
N1419K |
probably benign |
Het |
Arhgef18 |
A |
G |
8: 3,479,553 (GRCm39) |
E79G |
probably damaging |
Het |
Art4 |
T |
A |
6: 136,831,493 (GRCm39) |
Q216L |
probably damaging |
Het |
Bbs4 |
T |
C |
9: 59,231,348 (GRCm39) |
D407G |
probably benign |
Het |
Cherp |
A |
G |
8: 73,222,090 (GRCm39) |
I277T |
probably damaging |
Het |
Cnot2 |
A |
G |
10: 116,342,976 (GRCm39) |
M119T |
probably benign |
Het |
Disp2 |
T |
A |
2: 118,616,759 (GRCm39) |
C73S |
probably damaging |
Het |
Dock4 |
T |
C |
12: 40,884,390 (GRCm39) |
S1686P |
probably damaging |
Het |
Dsc1 |
C |
T |
18: 20,227,953 (GRCm39) |
G468S |
probably damaging |
Het |
Duox2 |
T |
A |
2: 122,122,781 (GRCm39) |
D551V |
possibly damaging |
Het |
Gmip |
T |
A |
8: 70,269,661 (GRCm39) |
Y585* |
probably null |
Het |
Idh1 |
T |
G |
1: 65,205,281 (GRCm39) |
Q228P |
possibly damaging |
Het |
Igsf10 |
A |
T |
3: 59,226,938 (GRCm39) |
I2245N |
probably damaging |
Het |
Mrgpra4 |
A |
T |
7: 47,631,052 (GRCm39) |
M183K |
possibly damaging |
Het |
Npr2 |
T |
A |
4: 43,641,612 (GRCm39) |
V472D |
possibly damaging |
Het |
Pcdh7 |
A |
T |
5: 57,878,806 (GRCm39) |
N787I |
probably damaging |
Het |
Phf8-ps |
A |
G |
17: 33,286,361 (GRCm39) |
V147A |
probably damaging |
Het |
Ppp1r10 |
A |
T |
17: 36,235,751 (GRCm39) |
N111I |
probably damaging |
Het |
Ppp3ca |
A |
G |
3: 136,640,942 (GRCm39) |
N508D |
probably benign |
Het |
Rgs17 |
A |
G |
10: 5,862,624 (GRCm38) |
Q25P |
possibly damaging |
Het |
Slco6d1 |
T |
A |
1: 98,348,925 (GRCm39) |
|
probably benign |
Het |
Tab3 |
T |
A |
X: 84,665,210 (GRCm39) |
N591K |
probably damaging |
Het |
Tfcp2 |
T |
C |
15: 100,411,059 (GRCm39) |
|
probably benign |
Het |
Them5 |
A |
T |
3: 94,250,716 (GRCm39) |
D93V |
probably damaging |
Het |
Thoc5 |
T |
G |
11: 4,868,147 (GRCm39) |
V275G |
probably damaging |
Het |
Trmt1l |
T |
C |
1: 151,318,463 (GRCm39) |
|
probably null |
Het |
Zdbf2 |
G |
T |
1: 63,345,673 (GRCm39) |
V1351F |
possibly damaging |
Het |
Zfp14 |
G |
T |
7: 29,738,312 (GRCm39) |
Y224* |
probably null |
Het |
Zfp606 |
T |
G |
7: 12,228,159 (GRCm39) |
M702R |
probably damaging |
Het |
|
Other mutations in Gnal |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01290:Gnal
|
APN |
18 |
67,344,169 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02097:Gnal
|
APN |
18 |
67,350,279 (GRCm39) |
splice site |
probably benign |
|
IGL02519:Gnal
|
APN |
18 |
67,221,836 (GRCm39) |
missense |
unknown |
|
IGL02691:Gnal
|
APN |
18 |
67,355,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R0455:Gnal
|
UTSW |
18 |
67,268,720 (GRCm39) |
splice site |
probably benign |
|
R0506:Gnal
|
UTSW |
18 |
67,221,744 (GRCm39) |
missense |
unknown |
|
R2107:Gnal
|
UTSW |
18 |
67,346,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R3937:Gnal
|
UTSW |
18 |
67,268,441 (GRCm39) |
splice site |
probably null |
|
R4246:Gnal
|
UTSW |
18 |
67,221,654 (GRCm39) |
missense |
unknown |
|
R4247:Gnal
|
UTSW |
18 |
67,221,654 (GRCm39) |
missense |
unknown |
|
R4299:Gnal
|
UTSW |
18 |
67,221,654 (GRCm39) |
missense |
unknown |
|
R4343:Gnal
|
UTSW |
18 |
67,268,659 (GRCm39) |
missense |
probably benign |
0.29 |
R5309:Gnal
|
UTSW |
18 |
67,346,178 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5579:Gnal
|
UTSW |
18 |
67,221,842 (GRCm39) |
missense |
unknown |
|
R5939:Gnal
|
UTSW |
18 |
67,324,456 (GRCm39) |
missense |
probably damaging |
0.98 |
R6277:Gnal
|
UTSW |
18 |
67,346,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R7031:Gnal
|
UTSW |
18 |
67,355,659 (GRCm39) |
missense |
probably damaging |
0.99 |
R7142:Gnal
|
UTSW |
18 |
67,351,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R7343:Gnal
|
UTSW |
18 |
67,268,596 (GRCm39) |
missense |
probably benign |
0.03 |
R7366:Gnal
|
UTSW |
18 |
67,344,142 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7806:Gnal
|
UTSW |
18 |
67,346,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R8269:Gnal
|
UTSW |
18 |
67,268,693 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8504:Gnal
|
UTSW |
18 |
67,350,255 (GRCm39) |
nonsense |
probably null |
|
R9005:Gnal
|
UTSW |
18 |
67,221,830 (GRCm39) |
nonsense |
probably null |
|
R9369:Gnal
|
UTSW |
18 |
67,324,439 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1088:Gnal
|
UTSW |
18 |
67,324,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |