Incidental Mutation 'R8551:Gnao1'
| ID |
659866 |
| 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 |
068516-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8551 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
94536781-94696016 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94682735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 307
(Q307R)
|
| 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 damaging
Transcript: ENSMUST00000138659
AA Change: Q307R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| 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: 98.9%
|
| Validation Efficiency |
98% (39/40) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
G |
A |
7: 82,189,678 (GRCm39) |
R634H |
probably benign |
Het |
| Birc6 |
T |
G |
17: 74,864,949 (GRCm39) |
S236R |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,496,227 (GRCm39) |
I1493K |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,155,360 (GRCm39) |
S303P |
possibly damaging |
Het |
| Eri2 |
A |
T |
7: 119,387,062 (GRCm39) |
|
probably null |
Het |
| Erlec1 |
C |
A |
11: 30,881,829 (GRCm39) |
C467F |
probably damaging |
Het |
| Exph5 |
A |
G |
9: 53,285,351 (GRCm39) |
T811A |
possibly damaging |
Het |
| Galr1 |
T |
A |
18: 82,424,191 (GRCm39) |
I29F |
probably benign |
Het |
| Gata3 |
C |
A |
2: 9,867,994 (GRCm39) |
C320F |
probably damaging |
Het |
| Ggnbp2 |
A |
T |
11: 84,732,351 (GRCm39) |
Y247* |
probably null |
Het |
| Hbp1 |
T |
C |
12: 31,980,709 (GRCm39) |
T465A |
probably damaging |
Het |
| Liph |
C |
G |
16: 21,800,158 (GRCm39) |
G152R |
probably damaging |
Het |
| Lrguk |
T |
C |
6: 34,093,446 (GRCm39) |
S656P |
probably damaging |
Het |
| Lyrm4 |
T |
A |
13: 36,163,844 (GRCm39) |
N85I |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,808,645 (GRCm39) |
I105N |
possibly damaging |
Het |
| Maml3 |
T |
C |
3: 51,764,488 (GRCm39) |
T159A |
probably benign |
Het |
| Man1c1 |
A |
T |
4: 134,430,326 (GRCm39) |
L152* |
probably null |
Het |
| Map3k20 |
T |
G |
2: 72,232,704 (GRCm39) |
|
probably benign |
Het |
| Mthfsl |
G |
T |
9: 88,570,943 (GRCm39) |
R102S |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,337,277 (GRCm39) |
S391R |
probably benign |
Het |
| Naa50 |
A |
G |
16: 43,979,996 (GRCm39) |
D128G |
probably benign |
Het |
| Nlrp14 |
C |
T |
7: 106,782,359 (GRCm39) |
R519C |
possibly damaging |
Het |
| Or5b119 |
A |
G |
19: 13,457,109 (GRCm39) |
I151T |
possibly damaging |
Het |
| Or6d14 |
G |
T |
6: 116,534,289 (GRCm39) |
R301L |
probably damaging |
Het |
| Oxtr |
T |
C |
6: 112,465,939 (GRCm39) |
K274E |
probably damaging |
Het |
| Prkn |
A |
G |
17: 11,286,103 (GRCm39) |
K32R |
probably damaging |
Het |
| Relt |
T |
C |
7: 100,512,409 (GRCm39) |
|
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,575,479 (GRCm39) |
I4840F |
possibly damaging |
Het |
| Sccpdh |
T |
A |
1: 179,509,013 (GRCm39) |
Y27N |
probably damaging |
Het |
| Slc7a5 |
A |
G |
8: 122,613,050 (GRCm39) |
S343P |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,068,971 (GRCm39) |
D950G |
probably benign |
Het |
| Stk38 |
A |
G |
17: 29,207,199 (GRCm39) |
Y115H |
probably damaging |
Het |
| Tas2r116 |
T |
C |
6: 132,832,993 (GRCm39) |
V198A |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,175,024 (GRCm39) |
D159G |
probably benign |
Het |
| Trim69 |
A |
G |
2: 122,003,810 (GRCm39) |
D253G |
probably benign |
Het |
| Trpv4 |
A |
T |
5: 114,768,900 (GRCm39) |
F359I |
possibly damaging |
Het |
| Twist1 |
C |
T |
12: 34,008,103 (GRCm39) |
R43W |
unknown |
Het |
| Usp19 |
A |
T |
9: 108,376,496 (GRCm39) |
E1026V |
possibly damaging |
Het |
| Virma |
A |
G |
4: 11,513,397 (GRCm39) |
Y417C |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,603,122 (GRCm39) |
I689V |
probably benign |
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 |
|
|
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 |
|
|
|
R9634:Gnao1
|
UTSW |
8 |
94,682,723 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTTGCACCCATAGGCTTC -3'
(R):5'- CATCTGAGCAGTGACAGAGC -3'
Sequencing Primer
(F):5'- CCTACTCTGTTGCTTGCTAGTGG -3'
(R):5'- AGAGCTCTGGGTCCAGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation