Incidental Mutation 'R6644:Gnai3'
ID 526338
Institutional Source Beutler Lab
Gene Symbol Gnai3
Ensembl Gene ENSMUSG00000000001
Gene Name G protein subunit alpha i3
Synonyms Galphai3
MMRRC Submission 044765-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6644 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 108014596-108053462 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 108030852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000000001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000001]
AlphaFold Q9DC51
PDB Structure Crystal structure of p115RhoGEF RGS domain in complex with G alpha 13 [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000000001
SMART Domains Protein: ENSMUSP00000000001
Gene: ENSMUSG00000000001

DomainStartEndE-ValueType
G_alpha 13 353 4.43e-218 SMART
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.3%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal basal cardiac function and beta-adrenergic sensitivity. Mice homozygous for a different knock-out allele exhibit enhanced T cell migration toward CXCR3 agonists. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 C T 10: 79,844,598 (GRCm39) P1461L probably damaging Het
Abhd14a T C 9: 106,321,472 (GRCm39) Y10C probably damaging Het
Adcy2 C T 13: 68,816,671 (GRCm39) V772M possibly damaging Het
Apob A G 12: 8,059,077 (GRCm39) M2487V probably damaging Het
B4galnt1 T C 10: 127,007,662 (GRCm39) probably null Het
Cabp7 C T 11: 4,690,396 (GRCm39) V76I probably benign Het
Cbr3 A G 16: 93,487,399 (GRCm39) Y194C probably damaging Het
Cdk18 G A 1: 132,049,807 (GRCm39) Q58* probably null Het
Cryba4 T C 5: 112,394,628 (GRCm39) D167G probably damaging Het
Czib T G 4: 107,752,119 (GRCm39) I130S probably damaging Het
Dner T C 1: 84,373,428 (GRCm39) N588S probably damaging Het
Dnm1l T C 16: 16,147,737 (GRCm39) I343V probably benign Het
Eif1ad16 A G 12: 87,985,460 (GRCm39) F28L probably benign Het
Fam168b C A 1: 34,875,822 (GRCm39) G21V probably damaging Het
Fbxw17 G A 13: 50,577,255 (GRCm39) R49Q probably damaging Het
Garin2 T A 12: 78,762,060 (GRCm39) D241E probably damaging Het
Gm10332 T A 14: 55,057,616 (GRCm39) F59I probably damaging Het
Helz T A 11: 107,523,087 (GRCm39) M75K possibly damaging Het
Hnrnph3 C T 10: 62,854,672 (GRCm39) probably benign Het
Ifi211 C T 1: 173,733,118 (GRCm39) C181Y probably benign Het
Immp1l A G 2: 105,767,390 (GRCm39) K83R probably damaging Het
Itga6 G A 2: 71,671,468 (GRCm39) G740R probably damaging Het
Klhl1 T C 14: 96,755,354 (GRCm39) T134A probably benign Het
Klhl7 A G 5: 24,354,244 (GRCm39) D353G probably damaging Het
Map3k1 A G 13: 111,888,983 (GRCm39) S1325P probably benign Het
Map3k4 A G 17: 12,451,297 (GRCm39) probably null Het
Meioc G A 11: 102,559,286 (GRCm39) probably null Het
Mfap5 T C 6: 122,497,555 (GRCm39) F26L probably damaging Het
Myo5a A G 9: 75,054,249 (GRCm39) T386A probably damaging Het
Npc1l1 A T 11: 6,164,013 (GRCm39) L1266Q probably damaging Het
Npc1l1 G T 11: 6,164,014 (GRCm39) L1266M probably damaging Het
Or4c116 A G 2: 88,942,325 (GRCm39) M177T probably benign Het
Or51aa2 C A 7: 103,188,265 (GRCm39) V59F possibly damaging Het
Pbld1 T A 10: 62,910,842 (GRCm39) S233T probably damaging Het
Phf12 A G 11: 77,916,918 (GRCm39) *789W probably null Het
Sf3b2 A T 19: 5,329,992 (GRCm39) probably null Het
Slc23a3 A G 1: 75,105,191 (GRCm39) I459T probably damaging Het
Spata31e4 A G 13: 50,856,071 (GRCm39) T570A possibly damaging Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Stard9 A C 2: 120,526,253 (GRCm39) M837L probably benign Het
Stx5a A T 19: 8,732,612 (GRCm39) probably benign Het
Tmc7 A G 7: 118,137,385 (GRCm39) V719A probably benign Het
Trank1 T A 9: 111,193,902 (GRCm39) I642K possibly damaging Het
Trim34a T C 7: 103,910,244 (GRCm39) Y349H probably damaging Het
Uba7 A G 9: 107,858,671 (GRCm39) Y834C possibly damaging Het
Ube2d1 A G 10: 71,092,530 (GRCm39) S105P possibly damaging Het
Vps13a A G 19: 16,722,283 (GRCm39) V343A possibly damaging Het
Zbtb37 G A 1: 160,859,643 (GRCm39) Q221* probably null Het
Zfp119b T C 17: 56,246,148 (GRCm39) N346S probably benign Het
Zfp708 G T 13: 67,218,785 (GRCm39) T358K possibly damaging Het
Other mutations in Gnai3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Gnai3 APN 3 108,023,073 (GRCm39) splice site probably benign
IGL01672:Gnai3 APN 3 108,016,775 (GRCm39) missense probably damaging 1.00
IGL02708:Gnai3 APN 3 108,025,660 (GRCm39) missense probably benign
IGL03067:Gnai3 APN 3 108,025,609 (GRCm39) splice site probably benign
PIT4791001:Gnai3 UTSW 3 108,025,621 (GRCm39) missense probably benign
R0388:Gnai3 UTSW 3 108,023,073 (GRCm39) splice site probably benign
R0554:Gnai3 UTSW 3 108,030,928 (GRCm39) missense probably benign 0.01
R1696:Gnai3 UTSW 3 108,016,775 (GRCm39) missense probably damaging 1.00
R1835:Gnai3 UTSW 3 108,025,723 (GRCm39) missense probably benign
R2057:Gnai3 UTSW 3 108,019,812 (GRCm39) missense probably benign
R3744:Gnai3 UTSW 3 108,016,714 (GRCm39) splice site probably benign
R5268:Gnai3 UTSW 3 108,030,857 (GRCm39) critical splice donor site probably null
R7527:Gnai3 UTSW 3 108,025,693 (GRCm39) missense
R7544:Gnai3 UTSW 3 108,025,702 (GRCm39) missense
R9112:Gnai3 UTSW 3 108,030,990 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- ACTCTGCATGCGTCGGTAAC -3'
(R):5'- CACACAGGGCCTTTTAAGACTG -3'

Sequencing Primer
(F):5'- GGTAACTTACTGTCTCCTGAGTCAG -3'
(R):5'- CAGGGCCTTTTAAGACTGAATTTCC -3'
Posted On 2018-06-22