Incidental Mutation 'R9799:Gnai2'
ID 735106
Institutional Source Beutler Lab
Gene Symbol Gnai2
Ensembl Gene ENSMUSG00000032562
Gene Name G protein subunit alpha i2
Synonyms Gia, Gnai-2, Galphai2
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.871) question?
Stock # R9799 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 107491324-107512542 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 107512380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 13 (A13T)
Ref Sequence ENSEMBL: ENSMUSP00000057543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055704] [ENSMUST00000192615] [ENSMUST00000192837] [ENSMUST00000193876]
AlphaFold P08752
Predicted Effect probably benign
Transcript: ENSMUST00000055704
AA Change: A13T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000057543
Gene: ENSMUSG00000032562
AA Change: A13T

DomainStartEndE-ValueType
G_alpha 13 354 2.1e-219 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192615
AA Change: A13T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000142326
Gene: ENSMUSG00000032562
AA Change: A13T

DomainStartEndE-ValueType
G_alpha 13 354 2.1e-219 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000192837
AA Change: A13T

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141929
Gene: ENSMUSG00000032562
AA Change: A13T

DomainStartEndE-ValueType
PDB:4N0E|A 1 40 4e-18 PDB
Blast:G_alpha 13 85 9e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000193876
AA Change: A13T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.7%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,132,998 (GRCm39) Y1309C probably benign Het
Adcy2 T C 13: 68,768,961 (GRCm39) T1056A probably benign Het
Adcy2 T A 13: 68,805,489 (GRCm39) R826S probably damaging Het
Agxt T C 1: 93,063,070 (GRCm39) W19R probably benign Het
Akr1b8 G A 6: 34,333,278 (GRCm39) E52K possibly damaging Het
Arhgef10 T C 8: 14,990,268 (GRCm39) Y248H probably damaging Het
Arhgef38 T C 3: 132,855,391 (GRCm39) D232G unknown Het
Arid4b T C 13: 14,358,967 (GRCm39) S668P probably benign Het
Ccdc136 T A 6: 29,417,505 (GRCm39) S775R probably damaging Het
Ccl25 T C 8: 4,377,799 (GRCm39) F20L unknown Het
Cimap1a A T 7: 140,430,706 (GRCm39) E254D probably benign Het
Cr2 T A 1: 194,842,988 (GRCm39) H218L probably benign Het
Csnka2ip T C 16: 64,298,672 (GRCm39) K564R unknown Het
Cyp2r1 A G 7: 114,151,207 (GRCm39) F371L probably benign Het
Ddx50 A T 10: 62,469,812 (GRCm39) F392I probably damaging Het
Dnah7a T C 1: 53,557,968 (GRCm39) T2149A probably benign Het
Emx2 A G 19: 59,448,036 (GRCm39) Y130C possibly damaging Het
Erbin T C 13: 103,971,384 (GRCm39) D744G probably benign Het
Gcm2 T C 13: 41,258,924 (GRCm39) N140S probably damaging Het
Gpr150 T C 13: 76,204,636 (GRCm39) Y103C possibly damaging Het
Gstp2 A G 19: 4,091,901 (GRCm39) probably null Het
Kdr A G 5: 76,117,752 (GRCm39) I667T possibly damaging Het
Lpin1 A G 12: 16,612,400 (GRCm39) I534T Het
Lrrtm3 T A 10: 63,925,749 (GRCm39) probably benign Het
Meiob C T 17: 25,042,574 (GRCm39) T134I probably benign Het
Msh2 G T 17: 88,024,933 (GRCm39) A604S probably damaging Het
Mterf3 T C 13: 67,062,780 (GRCm39) T319A possibly damaging Het
Myo3a C T 2: 22,490,181 (GRCm39) T1514I probably damaging Het
Ndfip2 T C 14: 105,496,400 (GRCm39) M98T possibly damaging Het
Nfatc2ip A G 7: 125,989,739 (GRCm39) V215A probably damaging Het
Or52e19 A T 7: 102,959,065 (GRCm39) T46S probably damaging Het
Or8k41 A T 2: 86,313,732 (GRCm39) M118K probably damaging Het
Pabpc6 C T 17: 9,888,114 (GRCm39) E146K probably damaging Het
Pde3b A G 7: 114,122,613 (GRCm39) Y727C probably damaging Het
Pemt A G 11: 59,937,174 (GRCm39) F30L possibly damaging Het
Plch1 A G 3: 63,605,591 (GRCm39) S1438P possibly damaging Het
Pnma2 T A 14: 67,154,009 (GRCm39) H144Q probably benign Het
Ppp1r14b A G 19: 6,952,825 (GRCm39) N70S possibly damaging Het
Psmd1 T A 1: 86,054,236 (GRCm39) M725K possibly damaging Het
Rab3gap1 A G 1: 127,858,489 (GRCm39) K533E probably benign Het
Rb1cc1 C A 1: 6,315,126 (GRCm39) H426Q probably damaging Het
Rimbp3 A G 16: 17,027,641 (GRCm39) E355G possibly damaging Het
Rxfp1 A G 3: 79,578,182 (GRCm39) F170L probably damaging Het
Sema3f G T 9: 107,562,562 (GRCm39) A473E probably damaging Het
Serpinb3a T G 1: 106,974,892 (GRCm39) I214L probably benign Het
Siglec1 G T 2: 130,915,941 (GRCm39) P1307Q probably damaging Het
Srd5a2 A C 17: 74,331,535 (GRCm39) I154S possibly damaging Het
Sugp1 A G 8: 70,523,068 (GRCm39) E537G probably damaging Het
Tbc1d30 T C 10: 121,142,074 (GRCm39) E91G possibly damaging Het
Tiparp A T 3: 65,454,973 (GRCm39) N373Y probably benign Het
Tmem217 A C 17: 29,745,232 (GRCm39) I166S probably damaging Het
Top1 T A 2: 160,563,406 (GRCm39) Y746N probably damaging Het
Tubb2a C T 13: 34,260,607 (GRCm39) D31N probably benign Het
Utrn T G 10: 12,585,736 (GRCm39) I1014L probably benign Het
Vtn T C 11: 78,392,625 (GRCm39) I401T probably benign Het
Wwc2 G T 8: 48,321,595 (GRCm39) H506Q unknown Het
Xab2 G T 8: 3,668,182 (GRCm39) T132N 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
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
Predicted Primers PCR Primer
(F):5'- TTTCAAGCGCAGGTGTAGGG -3'
(R):5'- TGGACTGAGCCTAACTTCTCC -3'

Sequencing Primer
(F):5'- GTGTAGGGTGCAAGGCC -3'
(R):5'- GACTGAGCCTAACTTCTCCCTTGG -3'
Posted On 2022-11-14