Incidental Mutation 'R4343:Gnal'
ID |
324243 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
041665-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.757)
|
Stock # |
R4343 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
67221369-67359863 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 67268659 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 182
(S182P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025402
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025402]
[ENSMUST00000076605]
|
AlphaFold |
Q8CGK7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025402
AA Change: S182P
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000025402 Gene: ENSMUSG00000024524 AA Change: S182P
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 benign
Transcript: ENSMUST00000076605
AA Change: S115P
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000075908 Gene: ENSMUSG00000024524 AA Change: S115P
Domain | Start | End | E-Value | Type |
G_alpha
|
22 |
380 |
5.02e-176 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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 |
Cd38 |
A |
C |
5: 44,026,431 (GRCm39) |
I72L |
probably benign |
Het |
Diras1 |
T |
A |
10: 80,858,018 (GRCm39) |
K78* |
probably null |
Het |
Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
Gm8674 |
T |
A |
13: 50,053,742 (GRCm39) |
|
noncoding transcript |
Het |
Grik1 |
T |
C |
16: 87,693,140 (GRCm39) |
T932A |
probably benign |
Het |
Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
Lepr |
G |
A |
4: 101,622,349 (GRCm39) |
|
probably null |
Het |
Mical3 |
C |
A |
6: 120,911,799 (GRCm39) |
E1083* |
probably null |
Het |
Mki67 |
A |
G |
7: 135,296,847 (GRCm39) |
V2729A |
probably benign |
Het |
Mmp20 |
GA |
GAA |
9: 7,628,346 (GRCm39) |
|
probably null |
Het |
Myo7b |
A |
G |
18: 32,116,680 (GRCm39) |
F976L |
probably damaging |
Het |
Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
Npc1l1 |
G |
A |
11: 6,167,773 (GRCm39) |
T1006I |
probably benign |
Het |
Or5g9 |
T |
A |
2: 85,552,592 (GRCm39) |
V281E |
probably damaging |
Het |
Plekha5 |
A |
G |
6: 140,501,780 (GRCm39) |
E656G |
probably damaging |
Het |
Prep |
C |
A |
10: 44,996,866 (GRCm39) |
S381R |
probably damaging |
Het |
Rab31 |
C |
T |
17: 65,961,414 (GRCm39) |
R192H |
probably benign |
Het |
Rbm5 |
T |
C |
9: 107,629,395 (GRCm39) |
D319G |
probably damaging |
Het |
Rexo2 |
T |
C |
9: 48,380,148 (GRCm39) |
E228G |
possibly damaging |
Het |
Rrn3 |
A |
G |
16: 13,601,986 (GRCm39) |
D80G |
probably benign |
Het |
Slc38a3 |
A |
G |
9: 107,533,671 (GRCm39) |
V224A |
possibly damaging |
Het |
Slc66a2 |
A |
G |
18: 80,327,004 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
T |
C |
2: 178,022,740 (GRCm39) |
T464A |
probably damaging |
Het |
Tpcn1 |
A |
T |
5: 120,698,285 (GRCm39) |
L79H |
probably damaging |
Het |
Trim30a |
T |
C |
7: 104,084,799 (GRCm39) |
Q137R |
probably benign |
Het |
Tyrp1 |
A |
G |
4: 80,768,078 (GRCm39) |
D92G |
possibly damaging |
Het |
Ugt1a6a |
T |
C |
1: 88,066,248 (GRCm39) |
L18P |
probably damaging |
Het |
Ugt2b5 |
A |
T |
5: 87,287,582 (GRCm39) |
V195E |
probably damaging |
Het |
Zmym2 |
T |
A |
14: 57,159,019 (GRCm39) |
M598K |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATGTCTGTCCGCTCACCTG -3'
(R):5'- CAAGCTGTCTCCCTGATGATC -3'
Sequencing Primer
(F):5'- CCTGAAGTGTTATAAGTAGGCTAAAC -3'
(R):5'- GTCTCCCTGATGATCAGCCACAC -3'
|
Posted On |
2015-06-24 |