Incidental Mutation 'R6636:Gnai1'
ID 525447
Institutional Source Beutler Lab
Gene Symbol Gnai1
Ensembl Gene ENSMUSG00000057614
Gene Name G protein subunit alpha i1
Synonyms Gialpha1
MMRRC Submission 044757-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6636 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 18470133-18565353 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18478472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 231 (D231G)
Ref Sequence ENSEMBL: ENSMUSP00000074259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074694]
AlphaFold B2RSH2
Predicted Effect probably damaging
Transcript: ENSMUST00000074694
AA Change: D231G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074259
Gene: ENSMUSG00000057614
AA Change: D231G

DomainStartEndE-ValueType
G_alpha 13 353 5.13e-223 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 98% (41/42)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A G 15: 64,659,251 (GRCm39) V513A probably damaging Het
Adgrl4 G A 3: 151,223,410 (GRCm39) W621* probably null Het
Ap4m1 A G 5: 138,170,437 (GRCm39) probably benign Het
Atp6v1b2 T C 8: 69,554,026 (GRCm39) Y68H probably damaging Het
AY761185 T A 8: 21,434,556 (GRCm39) probably null Het
C3ar1 T C 6: 122,828,013 (GRCm39) D68G probably damaging Het
Cdh10 A T 15: 18,985,259 (GRCm39) I308F probably damaging Het
Coq8a A T 1: 180,006,552 (GRCm39) S112T probably benign Het
Dmgdh A T 13: 93,845,706 (GRCm39) E453D probably benign Het
Fryl C A 5: 73,290,655 (GRCm39) R83L probably benign Het
Gm4861 C T 3: 137,256,760 (GRCm39) probably null Het
Hfe C G 13: 23,890,778 (GRCm39) E120D possibly damaging Het
Hfe T C 13: 23,890,779 (GRCm39) E120G possibly damaging Het
Hgd A G 16: 37,435,736 (GRCm39) N149S possibly damaging Het
Kcnb1 T C 2: 166,947,774 (GRCm39) D358G probably damaging Het
Lama2 C A 10: 27,000,564 (GRCm39) V1653L probably benign Het
Lamc1 A T 1: 153,117,721 (GRCm39) I947N possibly damaging Het
Lamp3 A G 16: 19,519,983 (GRCm39) F67L probably benign Het
Ltbp2 T C 12: 84,922,612 (GRCm39) I132V probably benign Het
Muc4 C T 16: 32,575,255 (GRCm39) P1280L probably benign Het
Muc5ac T C 7: 141,372,342 (GRCm39) Y2659H possibly damaging Het
Nmbr T C 10: 14,645,978 (GRCm39) S168P probably benign Het
Nsl1 A G 1: 190,807,324 (GRCm39) T168A probably benign Het
Or2g7 G A 17: 38,378,115 (GRCm39) D18N probably damaging Het
Or4a27 T C 2: 88,559,185 (GRCm39) I253V probably benign Het
Or5b113 T C 19: 13,342,589 (GRCm39) V199A probably benign Het
Or8s5 A G 15: 98,238,831 (GRCm39) F13S probably benign Het
Pde1c A C 6: 56,157,087 (GRCm39) V191G probably damaging Het
Proc T A 18: 32,256,813 (GRCm39) I285F probably benign Het
R3hdm1 GAA GAAA 1: 128,090,548 (GRCm39) probably null Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Homo
Spa17 A T 9: 37,523,270 (GRCm39) S6T probably benign Het
Spp1 T C 5: 104,588,396 (GRCm39) V267A possibly damaging Het
Stk17b A T 1: 53,800,247 (GRCm39) Y244N probably damaging Het
Tal1 A G 4: 114,925,789 (GRCm39) N286S probably damaging Het
Tgm7 T A 2: 120,931,571 (GRCm39) R197S probably damaging Het
Tmcc3 T A 10: 94,414,286 (GRCm39) V27E probably benign Het
Topaz1 A T 9: 122,578,851 (GRCm39) Q587L probably benign Het
Trim33 C T 3: 103,261,035 (GRCm39) A1061V probably damaging Het
Ttll1 C G 15: 83,384,147 (GRCm39) W160S probably damaging Het
Utp25 A T 1: 192,796,075 (GRCm39) F197I probably damaging Het
Wnt7a A G 6: 91,371,540 (GRCm39) Y141H probably benign 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
R5190:Gnai1 UTSW 5 18,496,596 (GRCm39) missense probably benign
R5591:Gnai1 UTSW 5 18,476,844 (GRCm39) missense probably benign 0.03
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'- TTCCCAGGTAGATGGATGGAG -3'
(R):5'- GGCATTACAGAACTCGGAGC -3'

Sequencing Primer
(F):5'- TGGAGAAACACCTGTGCCTTCTAAG -3'
(R):5'- CAGAACTCGGAGCTTTTGAAC -3'
Posted On 2018-06-22