Incidental Mutation 'IGL02519:Gnal'
| ID |
296900 |
| 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 # |
IGL02519
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
67221369-67359863 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 67221836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 80
(E80K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025402]
|
| AlphaFold |
Q8CGK7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000025402
AA Change: E80K
|
| SMART Domains |
Protein: ENSMUSP00000025402
Gene: ENSMUSG00000024524
AA Change: E80K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
46 |
N/A |
INTRINSIC |
|
G_alpha
|
89 |
447 |
1.18e-172 |
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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
A |
T |
2: 26,868,687 (GRCm39) |
I224F |
probably damaging |
Het |
| Adamts17 |
A |
G |
7: 66,774,721 (GRCm39) |
T947A |
possibly damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,296,504 (GRCm39) |
E75G |
probably benign |
Het |
| Arfgef1 |
G |
T |
1: 10,279,893 (GRCm39) |
H225N |
probably benign |
Het |
| Arsi |
A |
G |
18: 61,050,139 (GRCm39) |
S341G |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,389,665 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
A |
G |
3: 36,949,464 (GRCm39) |
E370G |
probably damaging |
Het |
| Cacna1i |
C |
T |
15: 80,246,075 (GRCm39) |
R490* |
probably null |
Het |
| Cd33 |
C |
T |
7: 43,178,153 (GRCm39) |
|
probably benign |
Het |
| Clmn |
T |
C |
12: 104,758,112 (GRCm39) |
I135V |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,919,457 (GRCm39) |
N795K |
possibly damaging |
Het |
| Dhps |
A |
G |
8: 85,799,928 (GRCm39) |
D126G |
probably damaging |
Het |
| Dlg2 |
G |
T |
7: 91,589,323 (GRCm39) |
V196L |
possibly damaging |
Het |
| Dsg1c |
T |
A |
18: 20,416,790 (GRCm39) |
I897N |
probably damaging |
Het |
| Dzip3 |
A |
G |
16: 48,748,759 (GRCm39) |
L1059S |
probably damaging |
Het |
| Epha7 |
A |
T |
4: 28,821,494 (GRCm39) |
T220S |
possibly damaging |
Het |
| Fgf17 |
A |
G |
14: 70,875,968 (GRCm39) |
I88T |
probably damaging |
Het |
| G3bp2 |
A |
G |
5: 92,214,383 (GRCm39) |
V137A |
possibly damaging |
Het |
| Hectd1 |
T |
G |
12: 51,815,894 (GRCm39) |
S1393R |
probably damaging |
Het |
| Igsf6 |
T |
C |
7: 120,667,496 (GRCm39) |
I173M |
possibly damaging |
Het |
| Il2ra |
A |
C |
2: 11,687,901 (GRCm39) |
E227A |
possibly damaging |
Het |
| Iqcf6 |
C |
T |
9: 106,504,479 (GRCm39) |
R48C |
probably damaging |
Het |
| Kdm3a |
G |
T |
6: 71,588,570 (GRCm39) |
Q480K |
probably benign |
Het |
| Larp4b |
C |
A |
13: 9,208,616 (GRCm39) |
A423E |
probably benign |
Het |
| Magea6 |
T |
C |
X: 153,707,741 (GRCm39) |
D105G |
probably benign |
Het |
| Nop53 |
C |
A |
7: 15,673,197 (GRCm39) |
|
probably benign |
Het |
| Or14a260 |
A |
T |
7: 85,984,789 (GRCm39) |
F272I |
probably benign |
Het |
| Or1j10 |
T |
C |
2: 36,267,325 (GRCm39) |
L179P |
possibly damaging |
Het |
| Pgghg |
A |
G |
7: 140,524,894 (GRCm39) |
T352A |
possibly damaging |
Het |
| Setd2 |
T |
C |
9: 110,382,184 (GRCm39) |
S1464P |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,461,762 (GRCm39) |
T3609N |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,908,587 (GRCm39) |
Y533* |
probably null |
Het |
| Thsd7b |
A |
G |
1: 129,540,932 (GRCm39) |
S346G |
probably benign |
Het |
| Tmem161b |
T |
A |
13: 84,442,863 (GRCm39) |
L261Q |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,976,134 (GRCm39) |
T493S |
possibly damaging |
Het |
| Tmprss11d |
A |
T |
5: 86,454,164 (GRCm39) |
C214S |
probably damaging |
Het |
| Trim16 |
A |
T |
11: 62,724,905 (GRCm39) |
E144V |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,961,359 (GRCm39) |
Y356C |
probably damaging |
Het |
| Urgcp |
A |
T |
11: 5,667,745 (GRCm39) |
F198I |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,767,320 (GRCm39) |
I726V |
possibly damaging |
Het |
| Zzz3 |
A |
T |
3: 152,133,027 (GRCm39) |
E28D |
probably damaging |
Het |
|
| Other mutations in Gnal |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Gnal
|
APN |
18 |
67,267,360 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation