Incidental Mutation 'R5479:Gnai2'
ID 434222
Institutional Source Beutler Lab
Gene Symbol Gnai2
Ensembl Gene ENSMUSG00000032562
Gene Name G protein subunit alpha i2
Synonyms Gia, Gnai-2, Galphai2
MMRRC Submission 043040-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.871) question?
Stock # R5479 (G1)
Quality Score 203
Status Not validated
Chromosome 9
Chromosomal Location 107491324-107512542 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 107512365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 18 (M18L)
Ref Sequence ENSEMBL: ENSMUSP00000141929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055704] [ENSMUST00000192615] [ENSMUST00000192837] [ENSMUST00000193876]
AlphaFold P08752
Predicted Effect probably benign
Transcript: ENSMUST00000055704
AA Change: M18L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057543
Gene: ENSMUSG00000032562
AA Change: M18L

DomainStartEndE-ValueType
G_alpha 13 354 2.1e-219 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192615
AA Change: M18L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142326
Gene: ENSMUSG00000032562
AA Change: M18L

DomainStartEndE-ValueType
G_alpha 13 354 2.1e-219 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192837
AA Change: M18L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000141929
Gene: ENSMUSG00000032562
AA Change: M18L

DomainStartEndE-ValueType
PDB:4N0E|A 1 40 4e-18 PDB
Blast:G_alpha 13 85 9e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193835
Predicted Effect probably benign
Transcript: ENSMUST00000193876
AA Change: M18L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195284
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.4%
  • 10x: 95.4%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an alpha subunit of guanine nucleotide binding proteins (G proteins). The encoded protein contains the guanine nucleotide binding site and is involved in the hormonal regulation of adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Nullizygous mice exhibit growth retardation, lethal ulcerative colitis, colon adenocarcinomas, granulocytosis, altered thymocyte maturation and function and enhanced production of pro-inflammatory cytokines, and may show alterations in leukocyte physiology and susceptibility to parasitic infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 G T 19: 55,268,894 (GRCm39) C185F probably damaging Het
Adad2 C A 8: 120,341,654 (GRCm39) T185N possibly damaging Het
Apbb1 A T 7: 105,214,232 (GRCm39) V315E probably damaging Het
Arfrp1 T C 2: 181,006,191 (GRCm39) T32A probably damaging Het
B020004C17Rik T C 14: 57,253,999 (GRCm39) S41P probably benign Het
Celsr3 T C 9: 108,721,743 (GRCm39) probably null Het
Chd8 C T 14: 52,452,652 (GRCm39) G1289D probably benign Het
Ctrl A G 8: 106,659,672 (GRCm39) F59S probably damaging Het
Cyp4v3 T A 8: 45,763,243 (GRCm39) D356V probably benign Het
Dgka T A 10: 128,565,541 (GRCm39) probably null Het
Dnah7b T C 1: 46,262,265 (GRCm39) Y2043H probably damaging Het
Eya3 A G 4: 132,400,244 (GRCm39) T88A possibly damaging Het
Fat1 A G 8: 45,489,912 (GRCm39) D3608G possibly damaging Het
Fmo1 T C 1: 162,677,793 (GRCm39) T108A probably damaging Het
Frs3 A G 17: 48,012,635 (GRCm39) E114G probably damaging Het
Ftcd A T 10: 76,413,850 (GRCm39) M85L probably benign Het
Ggnbp2 T C 11: 84,745,169 (GRCm39) S189G probably benign Het
Gm3629 C T 14: 17,875,765 (GRCm39) R35H unknown Het
Gpx5 T C 13: 21,476,805 (GRCm39) Y9C probably benign Het
Grik1 C A 16: 87,732,914 (GRCm39) A668S probably damaging Het
Hectd4 A T 5: 121,445,011 (GRCm39) M83L probably benign Het
Klra9 T C 6: 130,156,075 (GRCm39) R227G probably benign Het
Maz A T 7: 126,624,860 (GRCm39) V197D possibly damaging Het
Mbd5 T C 2: 49,162,917 (GRCm39) V241A probably damaging Het
Mdga2 C T 12: 66,701,950 (GRCm39) C417Y probably damaging Het
Mios C T 6: 8,215,314 (GRCm39) T170I probably benign Het
Myh13 G A 11: 67,239,648 (GRCm39) A733T probably damaging Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nfs1 G A 2: 155,970,422 (GRCm39) T297I probably damaging Het
Nrbf2 A G 10: 67,120,870 (GRCm39) probably null Het
Nrg1 T C 8: 32,308,405 (GRCm39) Y537C probably damaging Het
Onecut3 T A 10: 80,349,856 (GRCm39) L450Q probably damaging Het
Or4p8 T C 2: 88,727,035 (GRCm39) D302G probably benign Het
Pard3 G A 8: 128,096,836 (GRCm39) R333Q probably damaging Het
Parp4 T C 14: 56,861,552 (GRCm39) F962L probably benign Het
Pilra A G 5: 137,834,318 (GRCm39) S22P possibly damaging Het
Piwil4 T C 9: 14,616,337 (GRCm39) Y673C probably damaging Het
Plxna2 G A 1: 194,476,181 (GRCm39) D1134N probably benign Het
Pnpla7 T C 2: 24,909,453 (GRCm39) V681A possibly damaging Het
Ppfibp1 T A 6: 146,931,648 (GRCm39) probably null Het
Ptprz1 C T 6: 23,001,665 (GRCm39) L1252F probably benign Het
Sptb T C 12: 76,646,625 (GRCm39) E1999G probably benign Het
Stat3 T C 11: 100,780,714 (GRCm39) probably benign Het
Usp25 T C 16: 76,904,801 (GRCm39) V789A possibly damaging Het
Zfp148 C A 16: 33,317,589 (GRCm39) Q712K probably damaging Het
Other mutations in Gnai2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01760:Gnai2 APN 9 107,493,717 (GRCm39) missense probably damaging 1.00
IGL02408:Gnai2 APN 9 107,493,393 (GRCm39) missense probably benign
R0520:Gnai2 UTSW 9 107,497,372 (GRCm39) missense probably benign 0.01
R1106:Gnai2 UTSW 9 107,497,385 (GRCm39) missense probably damaging 1.00
R5443:Gnai2 UTSW 9 107,497,386 (GRCm39) missense probably damaging 0.96
R6312:Gnai2 UTSW 9 107,512,316 (GRCm39) missense probably damaging 1.00
R6313:Gnai2 UTSW 9 107,497,296 (GRCm39) missense possibly damaging 0.49
R7240:Gnai2 UTSW 9 107,492,972 (GRCm39) missense
R7748:Gnai2 UTSW 9 107,492,934 (GRCm39) missense
R8696:Gnai2 UTSW 9 107,496,968 (GRCm39) missense
R8862:Gnai2 UTSW 9 107,512,326 (GRCm39) missense
R9320:Gnai2 UTSW 9 107,492,913 (GRCm39) missense
R9799:Gnai2 UTSW 9 107,512,380 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TTTCAAGCGCAGGTGTAGGG -3'
(R):5'- TGGACTGAGCCTAACTTCTCCC -3'

Sequencing Primer
(F):5'- GTGTAGGGTGCAAGGCC -3'
(R):5'- AATCACCATCCCTAAATTTCCTTCGG -3'
Posted On 2016-10-06