Incidental Mutation 'R5190:Gnai1'
ID 398039
Institutional Source Beutler Lab
Gene Symbol Gnai1
Ensembl Gene ENSMUSG00000057614
Gene Name G protein subunit alpha i1
Synonyms Gialpha1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5190 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 18470133-18565353 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18496596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 109 (V109E)
Ref Sequence ENSEMBL: ENSMUSP00000074259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074694]
AlphaFold B2RSH2
Predicted Effect probably benign
Transcript: ENSMUST00000074694
AA Change: V109E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000074259
Gene: ENSMUSG00000057614
AA Change: V109E

DomainStartEndE-ValueType
G_alpha 13 353 5.13e-223 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit long term memory defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abca7 T C 10: 79,835,427 (GRCm39) probably null Het
Abca8a C T 11: 109,980,735 (GRCm39) probably null Het
Ablim3 A G 18: 61,952,982 (GRCm39) Y361H probably benign Het
Acan C T 7: 78,748,289 (GRCm39) T1020I probably benign Het
Baat A G 4: 49,499,652 (GRCm39) L218P probably damaging Het
Bcl11b C A 12: 107,955,975 (GRCm39) C58F probably damaging Het
Cand2 G T 6: 115,766,474 (GRCm39) A360S probably damaging Het
Cdh2 A G 18: 16,783,372 (GRCm39) V62A possibly damaging Het
Cep44 C T 8: 56,985,831 (GRCm39) V354I probably benign Het
Col3a1 G A 1: 45,368,244 (GRCm39) R309Q unknown Het
Col3a1 G A 1: 45,383,967 (GRCm39) probably benign Het
Coq5 A G 5: 115,433,839 (GRCm39) probably null Het
Crtac1 A G 19: 42,322,347 (GRCm39) I131T possibly damaging Het
Decr1 C T 4: 15,924,270 (GRCm39) V217M probably damaging Het
Dnajc13 A G 9: 104,051,724 (GRCm39) V1706A probably benign Het
Dop1a A G 9: 86,369,357 (GRCm39) I63M probably damaging Het
F830045P16Rik T C 2: 129,314,635 (GRCm39) D214G probably benign Het
Fam216a T A 5: 122,505,584 (GRCm39) probably null Het
Fdxacb1 A C 9: 50,683,387 (GRCm39) H248P possibly damaging Het
Helz2 A T 2: 180,872,550 (GRCm39) probably null Het
Itgam T C 7: 127,715,489 (GRCm39) probably null Het
Kcnh1 A G 1: 192,187,836 (GRCm39) S766G probably benign Het
Klra1 C A 6: 130,352,241 (GRCm39) C167F probably damaging Het
Krtap9-3 T A 11: 99,488,808 (GRCm39) T25S probably benign Het
Mapk6 T C 9: 75,295,626 (GRCm39) Y624C probably damaging Het
Or10ag2 A G 2: 87,249,187 (GRCm39) Y263C probably damaging Het
Or1ad8 T G 11: 50,898,381 (GRCm39) I194S probably damaging Het
Or2y1g T C 11: 49,171,209 (GRCm39) V78A probably damaging Het
Or52e4 C T 7: 104,705,660 (GRCm39) S69L probably damaging Het
Or9m2 T A 2: 87,821,107 (GRCm39) Y217* probably null Het
P3h2 A G 16: 25,803,699 (GRCm39) S356P possibly damaging Het
Pde12 C T 14: 26,387,532 (GRCm39) probably null Het
Rln3 T G 8: 84,769,866 (GRCm39) K94N probably damaging Het
Skint5 T C 4: 113,620,711 (GRCm39) I668V unknown Het
Slitrk5 C A 14: 111,916,852 (GRCm39) Q159K probably damaging Het
Trim3 G T 7: 105,268,716 (GRCm39) N79K probably damaging Het
Tyw1 T A 5: 130,296,756 (GRCm39) C101* probably null Het
Ulk2 T C 11: 61,672,537 (GRCm39) T934A probably benign Het
Unc5b T C 10: 60,608,072 (GRCm39) Y687C probably benign Het
Vmn1r195 C T 13: 22,462,556 (GRCm39) R9* probably null Het
Zfc3h1 T G 10: 115,254,597 (GRCm39) L1397R probably damaging Het
Zfp296 T C 7: 19,311,332 (GRCm39) V9A probably benign Het
Zfp423 T A 8: 88,509,091 (GRCm39) S397C probably damaging Het
Other mutations in Gnai1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Gnai1 APN 5 18,496,617 (GRCm39) missense probably benign 0.00
IGL00981:Gnai1 APN 5 18,472,045 (GRCm39) missense probably benign 0.05
IGL01717:Gnai1 APN 5 18,496,459 (GRCm39) critical splice donor site probably null
IGL01958:Gnai1 APN 5 18,478,568 (GRCm39) missense probably damaging 1.00
R0238:Gnai1 UTSW 5 18,478,548 (GRCm39) missense probably damaging 1.00
R0238:Gnai1 UTSW 5 18,478,548 (GRCm39) missense probably damaging 1.00
R4828:Gnai1 UTSW 5 18,496,470 (GRCm39) missense probably damaging 1.00
R4858:Gnai1 UTSW 5 18,496,596 (GRCm39) missense probably benign
R5591:Gnai1 UTSW 5 18,476,844 (GRCm39) missense probably benign 0.03
R6636:Gnai1 UTSW 5 18,478,472 (GRCm39) missense probably damaging 1.00
R7326:Gnai1 UTSW 5 18,494,549 (GRCm39) missense
R8184:Gnai1 UTSW 5 18,496,504 (GRCm39) missense
R9393:Gnai1 UTSW 5 18,565,055 (GRCm39) missense
Z1177:Gnai1 UTSW 5 18,513,550 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGGTCTTCATGATAGCTGACTTC -3'
(R):5'- ATCAAAGCCGTGCTGTTCTC -3'

Sequencing Primer
(F):5'- ATAGCTGACTTCTAAAGCTGTGGC -3'
(R):5'- TGGTTAGCAAACACTTCCTCAG -3'
Posted On 2016-07-06