Incidental Mutation 'R8901:Gnao1'
ID 679969
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 068758-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8901 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 94536781-94696016 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94694687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 70 (M70T)
Ref Sequence ENSEMBL: ENSMUSP00000115007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034198] [ENSMUST00000053766] [ENSMUST00000125716] [ENSMUST00000142466] [ENSMUST00000149530]
AlphaFold P18872
Predicted Effect probably benign
Transcript: ENSMUST00000034198
SMART Domains Protein: ENSMUSP00000034198
Gene: ENSMUSG00000031748

DomainStartEndE-ValueType
G_alpha 13 353 2.34e-226 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000053766
SMART Domains Protein: ENSMUSP00000052258
Gene: ENSMUSG00000031751

DomainStartEndE-ValueType
transmembrane domain 78 97 N/A INTRINSIC
transmembrane domain 118 137 N/A INTRINSIC
transmembrane domain 141 158 N/A INTRINSIC
transmembrane domain 183 205 N/A INTRINSIC
transmembrane domain 276 298 N/A INTRINSIC
RING 337 374 1.14e-8 SMART
CUE 452 493 3.3e-11 SMART
PDB:4LAD|B 571 596 2e-7 PDB
low complexity region 620 637 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125716
SMART Domains Protein: ENSMUSP00000114144
Gene: ENSMUSG00000031748

DomainStartEndE-ValueType
G_alpha 13 353 2.34e-226 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127900
SMART Domains Protein: ENSMUSP00000116826
Gene: ENSMUSG00000031748

DomainStartEndE-ValueType
Pfam:G-alpha 1 101 9.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142466
SMART Domains Protein: ENSMUSP00000118463
Gene: ENSMUSG00000031748

DomainStartEndE-ValueType
G_alpha 1 107 1.53e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149530
AA Change: M70T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115007
Gene: ENSMUSG00000031748
AA Change: M70T

DomainStartEndE-ValueType
Pfam:G-alpha 1 67 4.2e-28 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency 100% (53/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprm T C 11: 66,932,564 (GRCm39) N115S probably damaging Het
Agbl5 T C 5: 31,048,435 (GRCm39) V169A possibly damaging Het
Ajuba T C 14: 54,807,830 (GRCm39) probably benign Het
Ankrd27 G A 7: 35,332,243 (GRCm39) probably benign Het
Brat1 T A 5: 140,698,608 (GRCm39) M260K probably benign Het
Btbd6 G T 12: 112,940,220 (GRCm39) probably benign Het
Cenpf C T 1: 189,394,248 (GRCm39) G503S probably benign Het
Ces1e C T 8: 93,937,103 (GRCm39) D323N probably damaging Het
Chrna5 T C 9: 54,911,737 (GRCm39) F75S probably damaging Het
Clmn A T 12: 104,747,211 (GRCm39) S779T probably benign Het
Cntnap5c T A 17: 58,637,156 (GRCm39) M1011K probably benign Het
Col11a2 A T 17: 34,262,254 (GRCm39) I164F probably damaging Het
Daw1 A C 1: 83,183,643 (GRCm39) K231T possibly damaging Het
Dnah5 T G 15: 28,365,715 (GRCm39) M2637R possibly damaging Het
Dsp G A 13: 38,365,155 (GRCm39) V513M probably damaging Het
Eea1 T G 10: 95,825,431 (GRCm39) I42R probably damaging Het
Ehd4 A T 2: 119,932,805 (GRCm39) I207N probably damaging Het
F11 T C 8: 45,701,851 (GRCm39) T320A probably benign Het
Fhdc1 T A 3: 84,352,874 (GRCm39) M784L probably benign Het
Gm21411 G A 4: 146,982,171 (GRCm39) Q10* probably null Het
Gtf2i A G 5: 134,324,389 (GRCm39) F25S probably damaging Het
H2-T3 A T 17: 36,498,252 (GRCm39) D220E probably damaging Het
Hnrnpul2 T G 19: 8,801,809 (GRCm39) L339R probably damaging Het
Impg2 A T 16: 56,072,528 (GRCm39) D320V probably damaging Het
Itga2b A T 11: 102,351,630 (GRCm39) L565Q probably damaging Het
Jph3 A T 8: 122,457,561 (GRCm39) Q67L probably damaging Het
Khnyn T C 14: 56,124,043 (GRCm39) F99S probably damaging Het
Lhcgr A T 17: 89,063,030 (GRCm39) L214Q probably damaging Het
Lix1l C A 3: 96,508,745 (GRCm39) probably benign Het
Mettl13 C T 1: 162,373,814 (GRCm39) V95I possibly damaging Het
Nod2 C T 8: 89,390,437 (GRCm39) T226M probably damaging Het
Nwd2 T C 5: 63,963,685 (GRCm39) W1090R probably damaging Het
Or2y1c A T 11: 49,361,035 (GRCm39) D19V probably damaging Het
Pla2r1 C A 2: 60,332,400 (GRCm39) V481F Het
Polr1b T A 2: 128,967,595 (GRCm39) V996E probably damaging Het
Ppfia3 T A 7: 44,991,141 (GRCm39) R1027W probably damaging Het
Pramel21 A T 4: 143,343,677 (GRCm39) I326F probably benign Het
Rap1gds1 T C 3: 138,663,305 (GRCm39) D298G probably damaging Het
Rlf T C 4: 121,004,010 (GRCm39) T1767A possibly damaging Het
Scn3a C T 2: 65,352,252 (GRCm39) V353M probably benign Het
Setd1b T C 5: 123,299,114 (GRCm39) probably benign Het
Slc25a42 A G 8: 70,646,799 (GRCm39) V19A probably benign Het
Smarcal1 T C 1: 72,624,939 (GRCm39) S29P possibly damaging Het
Sntb2 T C 8: 107,737,975 (GRCm39) F508L possibly damaging Het
Speer4a3 CTTT C 5: 26,155,857 (GRCm39) probably benign Het
Syt15 G T 14: 33,948,028 (GRCm39) R291L probably damaging Het
Tas2r114 T A 6: 131,666,914 (GRCm39) N38I probably damaging Het
Tg T A 15: 66,557,184 (GRCm39) N948K probably damaging Het
Tmem115 A G 9: 107,411,993 (GRCm39) probably benign Het
Ttll8 C T 15: 88,818,146 (GRCm39) D175N probably benign Het
Txk T A 5: 72,858,050 (GRCm39) Y398F probably damaging Het
Wdr36 C A 18: 32,980,013 (GRCm39) T246K probably damaging Het
Wdr43 A T 17: 71,932,461 (GRCm39) R113S probably benign Het
Ybx1 T C 4: 119,138,785 (GRCm39) Y239C probably damaging Het
Other mutations in Gnao1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTGAAGAGGCCCATGGATG -3'
(R):5'- TAGCCTGACATGTTCCCACC -3'

Sequencing Primer
(F):5'- CCCATGGATGAGGTGTGAGC -3'
(R):5'- TGGTACAGAAAGGCTGTG -3'
Posted On 2021-08-31