Incidental Mutation 'IGL01760:Gnai2'
ID153251
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnai2
Ensembl Gene ENSMUSG00000032562
Gene Nameguanine nucleotide binding protein (G protein), alpha inhibiting 2
SynonymsGia, Galphai2, Gnai-2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.817) question?
Stock #IGL01760
Quality Score
Status
Chromosome9
Chromosomal Location107614125-107635367 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 107616518 bp
ZygosityHeterozygous
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]
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: ENSMUST00000195231
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195762
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: 83,731,957 T147S probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Chst3 A T 10: 60,186,470 V185D probably damaging Het
Col14a1 A C 15: 55,423,459 D892A unknown Het
Dopey1 A G 9: 86,519,923 T1059A probably benign Het
Erlec1 A C 11: 30,934,731 S441A probably benign Het
Frmd4b G T 6: 97,308,702 T289N probably damaging Het
Gm2016 A T 12: 87,877,021 probably benign Het
Gm6133 G A 18: 78,350,175 R128Q probably benign Het
Hspg2 T C 4: 137,512,671 S517P possibly damaging Het
Ighv9-1 C A 12: 114,094,194 E29* probably null Het
Lrp1 T C 10: 127,573,501 K1583R probably benign Het
Ltbp1 C T 17: 75,227,150 T211M probably damaging Het
Mttp A G 3: 138,111,736 S418P probably benign Het
Napa A G 7: 16,098,744 N23S possibly damaging Het
Odf2 C A 2: 29,914,460 Q347K probably damaging Het
Ogdhl A G 14: 32,339,937 D504G probably damaging Het
Olfr433 T C 1: 174,042,625 L225P probably damaging Het
Pdxdc1 A T 16: 13,859,152 N273K probably damaging Het
Rslcan18 T C 13: 67,113,951 I11V probably benign Het
Spidr G T 16: 15,912,560 R664S possibly damaging Het
Tead3 T C 17: 28,333,081 N385S probably benign Het
Trim13 T A 14: 61,605,723 N396K probably benign Het
Trp53bp2 C T 1: 182,448,428 A160V possibly damaging Het
Vmn2r69 A G 7: 85,406,864 S689P possibly damaging Het
Vmn2r79 A T 7: 87,002,158 Q255L probably benign Het
Wsb1 T C 11: 79,242,041 Y276C probably damaging Het
Zfp236 G T 18: 82,621,422 N1233K probably damaging Het
Other mutations in Gnai2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02408:Gnai2 APN 9 107616194 missense probably benign
R0520:Gnai2 UTSW 9 107620173 missense probably benign 0.01
R1106:Gnai2 UTSW 9 107620186 missense probably damaging 1.00
R5443:Gnai2 UTSW 9 107620187 missense probably damaging 0.96
R5479:Gnai2 UTSW 9 107635166 missense probably benign 0.14
R6312:Gnai2 UTSW 9 107635117 missense probably damaging 1.00
R6313:Gnai2 UTSW 9 107620097 missense possibly damaging 0.49
R7240:Gnai2 UTSW 9 107615773 missense
R7748:Gnai2 UTSW 9 107615735 missense
Posted On2014-02-04