Incidental Mutation 'R1439:Gnao1'
Institutional Source Beutler Lab
Gene Symbol Gnao1
Ensembl Gene ENSMUSG00000031748
Gene Nameguanine nucleotide binding protein, alpha O
SynonymsGalphao, alphaO, Go alpha
MMRRC Submission 039494-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1439 (G1)
Quality Score225
Status Validated
Chromosomal Location93809966-93969388 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 93963437 bp
Amino Acid Change Phenylalanine to Leucine at position 27 (F27L)
Ref Sequence ENSEMBL: ENSMUSP00000118463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034198] [ENSMUST00000125716] [ENSMUST00000138659] [ENSMUST00000142466] [ENSMUST00000149530]
Predicted Effect probably benign
Transcript: ENSMUST00000034198
AA Change: F259L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000034198
Gene: ENSMUSG00000031748
AA Change: F259L

G_alpha 13 353 2.34e-226 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125716
AA Change: F259L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000114144
Gene: ENSMUSG00000031748
AA Change: F259L

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

Pfam:G-alpha 1 101 9.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138659
Predicted Effect probably benign
Transcript: ENSMUST00000142466
AA Change: F27L

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000118463
Gene: ENSMUSG00000031748
AA Change: F27L

G_alpha 1 107 1.53e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149530
AA Change: F27L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000115007
Gene: ENSMUSG00000031748
AA Change: F27L

Pfam:G-alpha 1 67 4.2e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212008
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.3%
Validation Efficiency 100% (72/72)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 A G 1: 89,843,186 N499S probably damaging Het
AI661453 C A 17: 47,466,662 probably benign Het
Akap1 C A 11: 88,844,751 G362* probably null Het
Alkbh1 A G 12: 87,429,145 V289A probably damaging Het
Bnc2 C T 4: 84,276,068 E1035K probably benign Het
C1s2 T A 6: 124,630,167 probably benign Het
C530008M17Rik T C 5: 76,840,910 V36A probably damaging Het
Cabin1 A G 10: 75,656,806 I1885T probably damaging Het
Col22a1 A G 15: 71,952,377 probably benign Het
Cpne4 A T 9: 104,989,632 T248S probably damaging Het
Cubn T C 2: 13,287,568 N3268S probably damaging Het
Ddx10 T A 9: 53,240,487 K79N probably damaging Het
Dennd1a A C 2: 38,043,400 L131R probably damaging Het
Dnah9 T C 11: 65,874,132 Y3862C probably benign Het
Eif3e A G 15: 43,278,428 probably benign Het
Emsy T C 7: 98,600,841 probably benign Het
Ep400 A T 5: 110,685,478 D1959E unknown Het
Fpr-rs7 A G 17: 20,113,607 I207T probably benign Het
Fubp3 C A 2: 31,598,551 L140I probably damaging Het
Gas2l2 T C 11: 83,427,472 D137G probably damaging Het
Git1 G T 11: 77,506,418 R699L possibly damaging Het
Hlx G T 1: 184,731,987 A52D probably damaging Het
Itga6 T G 2: 71,834,034 Y505D probably damaging Het
Itgad A T 7: 128,183,006 T205S probably benign Het
Jakmip3 A T 7: 139,029,646 Y574F probably benign Het
Laptm5 G T 4: 130,926,209 probably benign Het
Mlana A T 19: 29,706,852 R71S probably benign Het
Mroh2a G C 1: 88,257,802 E1510D probably damaging Het
Mus81 G C 19: 5,485,117 R295G probably benign Het
Ncapd3 T A 9: 27,087,566 probably null Het
Nectin1 A G 9: 43,792,099 E218G possibly damaging Het
Nectin3 A T 16: 46,448,394 Y548* probably null Het
Nif3l1 T C 1: 58,447,943 F96S probably damaging Het
Ntrk1 A G 3: 87,789,611 probably null Het
Obsl1 C A 1: 75,486,784 E1755* probably null Het
Olfr1198 T C 2: 88,746,834 E18G possibly damaging Het
Osbpl9 T C 4: 109,101,156 D74G probably damaging Het
Osgin1 T A 8: 119,443,113 probably null Het
Otogl A G 10: 107,779,252 Y1931H probably benign Het
Pmepa1 A G 2: 173,228,081 I227T probably benign Het
Pprc1 T A 19: 46,063,736 N564K possibly damaging Het
Prkaa1 T C 15: 5,164,744 F92S probably damaging Het
Ptprd A G 4: 76,066,200 F811L probably damaging Het
Rad54b A G 4: 11,606,152 K520R possibly damaging Het
Rbfox1 A G 16: 7,330,433 T269A possibly damaging Het
Rfwd3 T C 8: 111,278,288 Y554C probably damaging Het
Rfx2 A T 17: 56,787,720 V208E probably damaging Het
Rgs22 G T 15: 36,025,793 probably benign Het
Rrbp1 A G 2: 143,955,112 probably null Het
Ryr2 C T 13: 11,714,503 probably benign Het
Sbno1 A G 5: 124,384,460 probably benign Het
Secisbp2 T C 13: 51,679,723 probably benign Het
Sgsm2 C A 11: 74,869,138 R58L probably benign Het
Slc25a36 A C 9: 97,093,073 probably benign Het
Spink4 A G 4: 40,929,121 T49A possibly damaging Het
Steap3 A T 1: 120,227,820 F470I probably damaging Het
Stk10 A G 11: 32,617,919 Q907R probably damaging Het
Tdrd5 A G 1: 156,277,487 V446A probably damaging Het
Tmem117 G A 15: 95,094,597 M379I probably benign Het
Trappc12 A G 12: 28,747,161 L124P possibly damaging Het
Trim9 G A 12: 70,251,093 H613Y probably damaging Het
Trio A G 15: 27,897,914 W371R probably damaging Het
Ulk4 G C 9: 121,266,258 H110D possibly damaging Het
Upb1 T C 10: 75,439,942 V387A probably benign Het
Utrn A T 10: 12,744,049 I284N possibly damaging Het
Vmn2r111 C A 17: 22,571,116 W303L probably benign Het
Vmn2r15 G T 5: 109,294,087 P160Q probably damaging Het
Wdtc1 A G 4: 133,301,807 S323P probably benign Het
Zfp846 T A 9: 20,594,097 C418S possibly damaging Het
Zfyve26 G T 12: 79,252,163 P441Q probably benign Het
Other mutations in Gnao1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00537:Gnao1 APN 8 93811680 missense probably damaging 1.00
IGL02587:Gnao1 APN 8 93950439 splice site probably benign
R1966:Gnao1 UTSW 8 93944199 missense probably benign 0.00
R3859:Gnao1 UTSW 8 93811645 splice site probably benign
R4579:Gnao1 UTSW 8 93966904 missense probably damaging 1.00
R4704:Gnao1 UTSW 8 93811376 missense probably benign 0.38
R4786:Gnao1 UTSW 8 93944303 missense probably benign
R5648:Gnao1 UTSW 8 93949442 missense probably damaging 1.00
R5930:Gnao1 UTSW 8 93896245 missense probably benign
R5964:Gnao1 UTSW 8 93966999 missense probably benign 0.01
R7604:Gnao1 UTSW 8 93944344 missense
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- tgtgtgtgtgtgtgtTGGG -3'
Posted On2014-03-14