Incidental Mutation 'R7240:Gnai2'
ID 563149
Institutional Source Beutler Lab
Gene Symbol Gnai2
Ensembl Gene ENSMUSG00000032562
Gene Name G protein subunit alpha i2
Synonyms Gia, Gnai-2, Galphai2
MMRRC Submission 045347-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.871) question?
Stock # R7240 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 107491324-107512542 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 107492972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 310 (D310E)
Ref Sequence ENSEMBL: ENSMUSP00000057543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055704] [ENSMUST00000192615] [ENSMUST00000192837] [ENSMUST00000193394]
AlphaFold P08752
Predicted Effect
SMART Domains Protein: ENSMUSP00000057543
Gene: ENSMUSG00000032562
AA Change: D310E

DomainStartEndE-ValueType
G_alpha 13 354 2.1e-219 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000142326
Gene: ENSMUSG00000032562
AA Change: D310E

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 probably benign
Transcript: ENSMUST00000193394
SMART Domains Protein: ENSMUSP00000141472
Gene: ENSMUSG00000032562

DomainStartEndE-ValueType
G_alpha 1 160 2.2e-16 SMART
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (50/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210017I01Rik A G 3: 92,512,382 (GRCm39) I59T unknown Het
Aspm C T 1: 139,406,389 (GRCm39) Q1759* probably null Het
Atn1 A T 6: 124,724,861 (GRCm39) I124K unknown Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Ccdc88c C T 12: 100,911,198 (GRCm39) V879M probably benign Het
Cd300c A G 11: 114,850,609 (GRCm39) C65R possibly damaging Het
Cd69 A T 6: 129,247,005 (GRCm39) S112T possibly damaging Het
Cdh19 T C 1: 110,821,137 (GRCm39) T534A probably benign Het
Cdk5rap2 T A 4: 70,210,145 (GRCm39) D701V probably damaging Het
D130052B06Rik A G 11: 33,573,874 (GRCm39) H157R possibly damaging Het
Dpf1 T A 7: 29,011,052 (GRCm39) F150L probably benign Het
Dsg1c T C 18: 20,416,166 (GRCm39) L689P probably damaging Het
Dstyk G A 1: 132,381,861 (GRCm39) M538I probably benign Het
E4f1 T A 17: 24,663,299 (GRCm39) I669F probably damaging Het
Gm7138 T C 10: 77,612,589 (GRCm39) T64A unknown Het
Iqca1 A G 1: 89,998,272 (GRCm39) V567A possibly damaging Het
Iqgap1 A T 7: 80,409,587 (GRCm39) N249K probably benign Het
Lamc1 A G 1: 153,110,396 (GRCm39) V1093A possibly damaging Het
Mfap3 A G 11: 57,420,582 (GRCm39) K188E probably damaging Het
N4bp2 T A 5: 65,951,888 (GRCm39) V431D probably damaging Het
Notch4 A G 17: 34,795,445 (GRCm39) T792A probably benign Het
Ntn4 A G 10: 93,581,603 (GRCm39) H592R probably damaging Het
Ofcc1 A G 13: 40,362,317 (GRCm39) C202R probably benign Het
Or10j2 T C 1: 173,098,561 (GRCm39) I273T probably benign Het
Or2a7 A G 6: 43,151,435 (GRCm39) K172E probably benign Het
Or5p55 T C 7: 107,567,395 (GRCm39) S264P probably benign Het
Or5p72 A G 7: 108,022,140 (GRCm39) M121V probably damaging Het
Or8b55 A G 9: 38,727,009 (GRCm39) D70G probably benign Het
Or8g24 A T 9: 38,989,906 (GRCm39) M45K probably damaging Het
Parpbp G A 10: 87,960,802 (GRCm39) T228I probably damaging Het
Pcdhgb8 G A 18: 37,896,756 (GRCm39) V609M probably damaging Het
Pla2g4d T C 2: 120,100,830 (GRCm39) N543S probably damaging Het
Puf60 A G 15: 75,944,388 (GRCm39) probably benign Het
Rbm6 A T 9: 107,730,095 (GRCm39) D184E probably damaging Het
Rnase9 A C 14: 51,276,436 (GRCm39) S181A probably benign Het
Rnpc3 T A 3: 113,410,480 (GRCm39) R270S probably damaging Het
Rundc1 T C 11: 101,322,374 (GRCm39) probably null Het
Ryr1 T C 7: 28,751,440 (GRCm39) S3715G possibly damaging Het
Scn3a A T 2: 65,299,386 (GRCm39) D1373E possibly damaging Het
Serpina3k T G 12: 104,306,861 (GRCm39) I31S probably benign Het
Sipa1l2 A G 8: 126,196,599 (GRCm39) F712L probably damaging Het
Slc22a29 A G 19: 8,138,875 (GRCm39) V529A probably damaging Het
Tdrd3 A G 14: 87,696,239 (GRCm39) N58S probably benign Het
Tmc2 C T 2: 130,076,724 (GRCm39) T350I possibly damaging Het
Tpst2 T C 5: 112,455,544 (GRCm39) C28R probably benign Het
Trbv21 A T 6: 41,179,892 (GRCm39) K69N probably benign Het
Trpm2 A G 10: 77,771,710 (GRCm39) probably null Het
Ttn A G 2: 76,679,334 (GRCm39) V10796A unknown Het
Ush2a A G 1: 188,643,858 (GRCm39) T4407A possibly damaging Het
Vmn2r95 A G 17: 18,672,225 (GRCm39) H726R probably benign Het
Zfp777 A G 6: 48,021,383 (GRCm39) S80P probably benign 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
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
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'- CCAGACCCCTGTTGTTTGAC -3'
(R):5'- CCTCTACCGTTGAGCATACGTAC -3'

Sequencing Primer
(F):5'- TGTTTGACAACCCCCTGAC -3'
(R):5'- CTACCGTTGAGCATACGTACATAGG -3'
Posted On 2019-06-26