Incidental Mutation 'R9634:Gnao1'
| ID |
725714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnao1
|
| Ensembl Gene |
ENSMUSG00000031748 |
| Gene Name |
guanine nucleotide binding protein, alpha O |
| Synonyms |
Galphao, Go alpha, alphaO |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9634 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
94536781-94696016 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94682723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 303
(H303R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148550
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034198]
[ENSMUST00000125716]
[ENSMUST00000138659]
[ENSMUST00000142466]
[ENSMUST00000149530]
|
| AlphaFold |
P18872 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034198
|
| SMART Domains |
Protein: ENSMUSP00000034198
Gene: ENSMUSG00000031748
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
13 |
353 |
2.34e-226 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125716
|
| SMART Domains |
Protein: ENSMUSP00000114144
Gene: ENSMUSG00000031748
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
13 |
353 |
2.34e-226 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127900
|
| SMART Domains |
Protein: ENSMUSP00000116826
Gene: ENSMUSG00000031748
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:G-alpha
|
1 |
101 |
9.3e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138659
AA Change: H303R
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142466
|
| SMART Domains |
Protein: ENSMUSP00000118463
Gene: ENSMUSG00000031748
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
1 |
107 |
1.53e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149530
|
| SMART Domains |
Protein: ENSMUSP00000115007
Gene: ENSMUSG00000031748
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:G-alpha
|
1 |
67 |
4.2e-28 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice lacking both isoforms exhibit reduced survival, sterility, low body weight, hyperalgesia, tremors, turning behavior, impaired locomotion, altered channel response and improved glucose tolerance. Isoform-specific deletion may lead to increased insulin release and abnormal eye electrophysiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
C |
A |
11: 84,184,816 (GRCm39) |
D1277E |
probably benign |
Het |
| Anapc7 |
T |
C |
5: 122,560,689 (GRCm39) |
S17P |
probably damaging |
Het |
| Atad2b |
T |
C |
12: 5,060,332 (GRCm39) |
F909S |
probably damaging |
Het |
| Ccnb1 |
G |
A |
13: 100,920,112 (GRCm39) |
A133V |
probably benign |
Het |
| Chd7 |
A |
G |
4: 8,832,499 (GRCm39) |
T1125A |
probably damaging |
Het |
| Cyc1 |
A |
G |
15: 76,227,794 (GRCm39) |
T11A |
probably benign |
Het |
| Ddx59 |
G |
A |
1: 136,347,214 (GRCm39) |
A291T |
probably damaging |
Het |
| Dgkg |
T |
A |
16: 22,338,387 (GRCm39) |
|
probably null |
Het |
| Dock8 |
A |
G |
19: 25,169,585 (GRCm39) |
D1952G |
probably damaging |
Het |
| Dpf3 |
A |
G |
12: 83,378,635 (GRCm39) |
|
probably null |
Het |
| Evi5 |
T |
C |
5: 107,964,663 (GRCm39) |
I340V |
probably benign |
Het |
| Extl3 |
A |
T |
14: 65,314,919 (GRCm39) |
S88T |
probably damaging |
Het |
| Fktn |
A |
G |
4: 53,761,230 (GRCm39) |
H410R |
probably benign |
Het |
| Fyb2 |
A |
T |
4: 104,856,579 (GRCm39) |
K596* |
probably null |
Het |
| Gas2l3 |
C |
T |
10: 89,249,943 (GRCm39) |
A392T |
probably benign |
Het |
| Gbp7 |
T |
A |
3: 142,242,115 (GRCm39) |
V83E |
probably benign |
Het |
| Gja10 |
A |
G |
4: 32,601,877 (GRCm39) |
V169A |
probably damaging |
Het |
| Iars2 |
A |
G |
1: 185,027,727 (GRCm39) |
*734R |
probably null |
Het |
| Il2ra |
C |
T |
2: 11,685,227 (GRCm39) |
R188* |
probably null |
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,318,606 (GRCm39) |
T210A |
|
Het |
| Itpkc |
A |
G |
7: 26,913,880 (GRCm39) |
I527T |
probably benign |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
| Loxl3 |
C |
T |
6: 83,027,835 (GRCm39) |
T749I |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 41,135,951 (GRCm39) |
|
probably null |
Het |
| Ncapg2 |
T |
A |
12: 116,379,077 (GRCm39) |
H190Q |
probably damaging |
Het |
| Nkain2 |
G |
A |
10: 32,766,262 (GRCm39) |
P66L |
unknown |
Het |
| Nubpl |
T |
C |
12: 52,349,494 (GRCm39) |
F242L |
probably benign |
Het |
| Or4f4-ps1 |
T |
C |
2: 111,330,131 (GRCm39) |
V178A |
possibly damaging |
Het |
| Or4x11 |
T |
C |
2: 89,867,907 (GRCm39) |
S215P |
probably damaging |
Het |
| Or8b51 |
A |
G |
9: 38,568,869 (GRCm39) |
I273T |
probably benign |
Het |
| Paip2b |
T |
C |
6: 83,787,023 (GRCm39) |
D71G |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,605,152 (GRCm39) |
E1584G |
probably damaging |
Het |
| Poglut2 |
T |
C |
1: 44,152,196 (GRCm39) |
D271G |
probably damaging |
Het |
| Prkag2 |
A |
G |
5: 25,074,238 (GRCm39) |
I489T |
possibly damaging |
Het |
| Ptpn2 |
C |
T |
18: 67,808,789 (GRCm39) |
|
probably null |
Het |
| Rims3 |
G |
A |
4: 120,748,517 (GRCm39) |
R246H |
possibly damaging |
Het |
| Sorl1 |
T |
G |
9: 41,907,590 (GRCm39) |
T1466P |
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,926,531 (GRCm39) |
E3G |
probably benign |
Het |
| Tex2 |
A |
G |
11: 106,458,978 (GRCm39) |
S151P |
unknown |
Het |
| Tmem260 |
C |
A |
14: 48,709,816 (GRCm39) |
A123E |
probably damaging |
Het |
| Trim45 |
T |
C |
3: 100,839,306 (GRCm39) |
V736A |
unknown |
Het |
| Vps8 |
T |
C |
16: 21,372,893 (GRCm39) |
L1033P |
probably damaging |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Wwc2 |
GCC |
GCCC |
8: 48,304,959 (GRCm39) |
|
probably null |
Het |
| Ythdc2 |
A |
G |
18: 45,006,037 (GRCm39) |
T1177A |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,494,056 (GRCm39) |
Y194H |
probably damaging |
Het |
|
| Other mutations in Gnao1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00537:Gnao1
|
APN |
8 |
94,538,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02587:Gnao1
|
APN |
8 |
94,677,067 (GRCm39) |
splice site |
probably benign |
|
|
R1439:Gnao1
|
UTSW |
8 |
94,690,065 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1966:Gnao1
|
UTSW |
8 |
94,670,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3859:Gnao1
|
UTSW |
8 |
94,538,273 (GRCm39) |
splice site |
probably benign |
|
|
R4579:Gnao1
|
UTSW |
8 |
94,693,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4704:Gnao1
|
UTSW |
8 |
94,538,004 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4786:Gnao1
|
UTSW |
8 |
94,670,931 (GRCm39) |
missense |
probably benign |
|
|
R5648:Gnao1
|
UTSW |
8 |
94,676,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Gnao1
|
UTSW |
8 |
94,622,873 (GRCm39) |
missense |
probably benign |
|
|
R5964:Gnao1
|
UTSW |
8 |
94,693,627 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7604:Gnao1
|
UTSW |
8 |
94,670,972 (GRCm39) |
missense |
|
|
|
R8426:Gnao1
|
UTSW |
8 |
94,622,857 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8551:Gnao1
|
UTSW |
8 |
94,682,735 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8695:Gnao1
|
UTSW |
8 |
94,682,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Gnao1
|
UTSW |
8 |
94,538,045 (GRCm39) |
missense |
probably benign |
|
|
R8901:Gnao1
|
UTSW |
8 |
94,694,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9246:Gnao1
|
UTSW |
8 |
94,676,967 (GRCm39) |
missense |
|
|
|
R9523:Gnao1
|
UTSW |
8 |
94,622,861 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACCCATAGGCTTCCTAC -3'
(R):5'- CATCTGAGCAGTGACAGAGCTC -3'
Sequencing Primer
(F):5'- CCTACTCTGTTGCTTGCTAGTGG -3'
(R):5'- AGAGCTCTGGGTCCAGG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation