Incidental Mutation 'R6384:Gnaq'
ID 515526
Institutional Source Beutler Lab
Gene Symbol Gnaq
Ensembl Gene ENSMUSG00000024639
Gene Name guanine nucleotide binding protein, alpha q polypeptide
Synonyms Galphaq, 6230401I02Rik, 1110005L02Rik, Dsk1, Dsk10, G alpha q, GqI, Gq
MMRRC Submission 044533-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6384 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 16110195-16364827 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 16293377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025541]
AlphaFold P21279
PDB Structure Crystal Structure of G Protein-Coupled Receptor Kinase 2 in Complex with Galpha-q and Gbetagamma Subunits [X-RAY DIFFRACTION]
Crystal Structure of p63RhoGEF complex with Galpha-q and RhoA [X-RAY DIFFRACTION]
Structure of heterotrimeric G protein Galpha-q beta gamma in complex with an inhibitor YM-254890 [X-RAY DIFFRACTION]
Crystal structure of activated G alpha Q bound to its effector phospholipase C beta 3 [X-RAY DIFFRACTION]
Structure of human regulator of G protein signaling 2 (RGS2) in complex with murine Galpha-q(R183C) [X-RAY DIFFRACTION]
Structure of human regulator of G protein signaling 2 (RGS2) in complex with murine Galpha-q(R183C) [X-RAY DIFFRACTION]
Crystal structure of Galphaq in complex with full-length human PLCbeta3 [X-RAY DIFFRACTION]
Structure of a fragment of human phospholipase C-beta3 delta472-559, in complex with Galphaq [X-RAY DIFFRACTION]
Structure of a fragment of human phospholipase C-beta3 delta472-569, bound to IP3 and in complex with Galphaq [X-RAY DIFFRACTION]
Structure of a fragment of human phospholipase C-beta3 delta472-581, bound to IP3 and in complex with Galphaq [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000025541
SMART Domains Protein: ENSMUSP00000025541
Gene: ENSMUSG00000024639

DomainStartEndE-ValueType
G_alpha 19 358 1.24e-216 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184935
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]
PHENOTYPE: Mutant mice exhibit pigmentation anomalies affecting the ears, tail and footpads. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,790,066 (GRCm39) T97S probably benign Het
Adam34 T A 8: 44,103,836 (GRCm39) D603V probably benign Het
Adamts5 C T 16: 85,659,716 (GRCm39) V859I probably benign Het
Alb T A 5: 90,620,499 (GRCm39) D536E possibly damaging Het
Amz2 A G 11: 109,319,860 (GRCm39) Y82C probably damaging Het
Asxl1 T C 2: 153,233,744 (GRCm39) probably null Het
Bach1 C T 16: 87,516,745 (GRCm39) Q429* probably null Het
Bcl6 A G 16: 23,793,615 (GRCm39) Y111H probably damaging Het
Ccnj T C 19: 40,834,451 (GRCm39) V338A probably benign Het
Cdca3 C T 6: 124,809,382 (GRCm39) P174L probably damaging Het
Cdk17 T C 10: 93,047,827 (GRCm39) L25P probably damaging Het
Cdr2 G A 7: 120,581,351 (GRCm39) probably null Het
Cyp2c38 A T 19: 39,380,737 (GRCm39) probably null Het
Ednra T C 8: 78,415,723 (GRCm39) N175D probably damaging Het
Elp3 T C 14: 65,797,660 (GRCm39) Y337C probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Eps15l1 A T 8: 73,122,554 (GRCm39) probably null Het
F11r A G 1: 171,288,508 (GRCm39) N117S probably benign Het
Foxp2 C T 6: 15,437,947 (GRCm39) T716I probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gpr158 T C 2: 21,831,099 (GRCm39) M733T probably damaging Het
Hdac7 G A 15: 97,709,387 (GRCm39) Q48* probably null Het
Hmga2 G A 10: 120,206,612 (GRCm39) probably benign Het
Itgb7 A G 15: 102,132,886 (GRCm39) V142A probably benign Het
Kif5a T C 10: 127,078,644 (GRCm39) N334D probably damaging Het
Lrrc47 T C 4: 154,100,317 (GRCm39) S298P probably benign Het
Map3k1 A T 13: 111,887,064 (GRCm39) S1415R probably damaging Het
Mdn1 T A 4: 32,670,607 (GRCm39) L424Q probably damaging Het
Numb A C 12: 83,850,748 (GRCm39) L154R probably damaging Het
Or8g27 T C 9: 39,129,274 (GRCm39) V207A probably benign Het
Or8k30 A G 2: 86,339,381 (GRCm39) K193E probably benign Het
Pdcd5 G T 7: 35,346,334 (GRCm39) A92E possibly damaging Het
Pdcl2 C T 5: 76,478,855 (GRCm39) probably null Het
Rbfa T C 18: 80,235,996 (GRCm39) Y251C probably damaging Het
Rgsl1 G A 1: 153,703,291 (GRCm39) T120I possibly damaging Het
Serpina3g A G 12: 104,206,655 (GRCm39) Q152R probably null Het
Setx T C 2: 29,063,570 (GRCm39) S2289P probably damaging Het
Slc6a16 A G 7: 44,907,017 (GRCm39) probably null Het
Slco1a6 C T 6: 142,055,105 (GRCm39) D280N probably benign Het
Syde2 T A 3: 145,704,568 (GRCm39) Y240N probably damaging Het
Synpo2 G A 3: 122,906,698 (GRCm39) Q873* probably null Het
Tlr2 A G 3: 83,744,301 (GRCm39) V594A probably benign Het
Ttc16 C T 2: 32,657,561 (GRCm39) A512T probably damaging Het
Tubb5 T C 17: 36,148,938 (GRCm39) E3G probably damaging Het
Vmn2r112 T C 17: 22,824,136 (GRCm39) Y464H probably damaging Het
Xcr1 T A 9: 123,684,847 (GRCm39) H305L probably damaging Het
Yars1 T G 4: 129,090,771 (GRCm39) probably null Het
Other mutations in Gnaq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01967:Gnaq APN 19 16,355,524 (GRCm39) missense probably damaging 1.00
IGL02297:Gnaq APN 19 16,355,615 (GRCm39) missense probably damaging 1.00
IGL02400:Gnaq APN 19 16,293,492 (GRCm39) missense probably damaging 1.00
IGL03073:Gnaq APN 19 16,293,470 (GRCm39) missense probably benign 0.18
R0542:Gnaq UTSW 19 16,196,982 (GRCm39) missense probably damaging 0.99
R0800:Gnaq UTSW 19 16,312,428 (GRCm39) missense probably damaging 1.00
R1368:Gnaq UTSW 19 16,355,651 (GRCm39) missense probably benign
R1609:Gnaq UTSW 19 16,360,618 (GRCm39) missense possibly damaging 0.86
R4569:Gnaq UTSW 19 16,312,370 (GRCm39) missense probably damaging 1.00
R5123:Gnaq UTSW 19 16,309,449 (GRCm39) missense probably benign
R5360:Gnaq UTSW 19 16,110,790 (GRCm39) missense probably benign 0.01
R8251:Gnaq UTSW 19 16,312,419 (GRCm39) missense probably damaging 0.99
R9019:Gnaq UTSW 19 16,355,638 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGGTACTCCTGCTATCTTGATG -3'
(R):5'- AAGCAGCAGCAGTCTCTCAG -3'

Sequencing Primer
(F):5'- AGCTTCAGATTTCTTTTAGAGGGG -3'
(R):5'- AGGCCTGGTGTGCAGATACTC -3'
Posted On 2018-05-04