Incidental Mutation 'IGL01760:Gnai2'
ID 153251
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnai2
Ensembl Gene ENSMUSG00000032562
Gene Name G protein subunit alpha i2
Synonyms Gia, Gnai-2, Galphai2
Accession Numbers
Essential gene? Probably essential (E-score: 0.871) question?
Stock # IGL01760
Quality Score
Status
Chromosome 9
Chromosomal Location 107491324-107512542 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107493717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 155 (S155P)
Ref Sequence ENSEMBL: ENSMUSP00000141472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055704] [ENSMUST00000192615] [ENSMUST00000192837] [ENSMUST00000193394]
AlphaFold P08752
Predicted Effect probably damaging
Transcript: ENSMUST00000055704
AA Change: S207P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057543
Gene: ENSMUSG00000032562
AA Change: S207P

DomainStartEndE-ValueType
G_alpha 13 354 2.1e-219 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000192615
AA Change: S207P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142326
Gene: ENSMUSG00000032562
AA Change: S207P

DomainStartEndE-ValueType
G_alpha 13 354 2.1e-219 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192837
SMART Domains Protein: ENSMUSP00000141929
Gene: ENSMUSG00000032562

DomainStartEndE-ValueType
PDB:4N0E|A 1 40 4e-18 PDB
Blast:G_alpha 13 85 9e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193372
Predicted Effect probably damaging
Transcript: ENSMUST00000193394
AA Change: S155P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141472
Gene: ENSMUSG00000032562
AA Change: S155P

DomainStartEndE-ValueType
G_alpha 1 160 2.2e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195762
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195231
Coding Region Coverage
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T A 8: 84,458,586 (GRCm39) T147S probably benign Het
Chst3 A T 10: 60,022,292 (GRCm39) V185D probably damaging Het
Col14a1 A C 15: 55,286,855 (GRCm39) D892A unknown Het
Dop1a A G 9: 86,401,976 (GRCm39) T1059A probably benign Het
Eif1ad3 A T 12: 87,843,791 (GRCm39) probably benign Het
Erlec1 A C 11: 30,884,731 (GRCm39) S441A probably benign Het
Frmd4b G T 6: 97,285,663 (GRCm39) T289N probably damaging Het
Gm6133 G A 18: 78,393,390 (GRCm39) R128Q probably benign Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Hspg2 T C 4: 137,239,982 (GRCm39) S517P possibly damaging Het
Ighv9-1 C A 12: 114,057,814 (GRCm39) E29* probably null Het
Lrp1 T C 10: 127,409,370 (GRCm39) K1583R probably benign Het
Ltbp1 C T 17: 75,534,145 (GRCm39) T211M probably damaging Het
Mttp A G 3: 137,817,497 (GRCm39) S418P probably benign Het
Napa A G 7: 15,832,669 (GRCm39) N23S possibly damaging Het
Odf2 C A 2: 29,804,472 (GRCm39) Q347K probably damaging Het
Ogdhl A G 14: 32,061,894 (GRCm39) D504G probably damaging Het
Or10aa1 T C 1: 173,870,191 (GRCm39) L225P probably damaging Het
Pdxdc1 A T 16: 13,677,016 (GRCm39) N273K probably damaging Het
Rslcan18 T C 13: 67,262,015 (GRCm39) I11V probably benign Het
Spidr G T 16: 15,730,424 (GRCm39) R664S possibly damaging Het
Tead3 T C 17: 28,552,055 (GRCm39) N385S probably benign Het
Trim13 T A 14: 61,843,172 (GRCm39) N396K probably benign Het
Trp53bp2 C T 1: 182,275,993 (GRCm39) A160V possibly damaging Het
Vmn2r69 A G 7: 85,056,072 (GRCm39) S689P possibly damaging Het
Vmn2r79 A T 7: 86,651,366 (GRCm39) Q255L probably benign Het
Wsb1 T C 11: 79,132,867 (GRCm39) Y276C probably damaging Het
Zfp236 G T 18: 82,639,547 (GRCm39) N1233K probably damaging Het
Other mutations in Gnai2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5479:Gnai2 UTSW 9 107,512,365 (GRCm39) missense probably benign 0.14
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
Posted On 2014-02-04