Incidental Mutation 'R1609:Gnaq'
ID 176700
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 039646-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1609 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 16110195-16364827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 16360618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 314 (V314M)
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 possibly damaging
Transcript: ENSMUST00000025541
AA Change: V314M

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025541
Gene: ENSMUSG00000024639
AA Change: V314M

DomainStartEndE-ValueType
G_alpha 19 358 1.24e-216 SMART
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.1%
Validation Efficiency 96% (49/51)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot2 C T 12: 84,039,630 (GRCm39) R380C possibly damaging Het
Allc A T 12: 28,603,993 (GRCm39) D363E probably damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
App C A 16: 84,876,837 (GRCm39) V185L probably damaging Het
Atp5if1 T C 4: 132,258,078 (GRCm39) D47G probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Cbr4 T A 8: 61,956,192 (GRCm39) Y220N probably damaging Het
Ccdc6 C A 10: 70,002,877 (GRCm39) Q203K probably damaging Het
Cntnap2 T C 6: 45,992,264 (GRCm39) V397A probably benign Het
Dmxl2 A G 9: 54,316,547 (GRCm39) I1613T possibly damaging Het
Dnah14 T C 1: 181,577,742 (GRCm39) S3020P probably damaging Het
Dnah7b T C 1: 46,392,126 (GRCm39) L3829P probably damaging Het
Fbxw25 C T 9: 109,492,578 (GRCm39) C53Y probably benign Het
Fndc1 G T 17: 7,991,598 (GRCm39) H699Q unknown Het
Gpr158 A G 2: 21,788,104 (GRCm39) T582A possibly damaging Het
Mapk1 T C 16: 16,856,170 (GRCm39) probably benign Het
Med1 T A 11: 98,051,996 (GRCm39) H456L possibly damaging Het
Myo6 G A 9: 80,195,499 (GRCm39) probably null Het
Nipbl A G 15: 8,396,148 (GRCm39) Y142H probably damaging Het
Or4c113 A T 2: 88,885,688 (GRCm39) F27L probably benign Het
Or8k24 A G 2: 86,215,838 (GRCm39) I308T probably benign Het
Or8k33 A C 2: 86,383,949 (GRCm39) V173G probably damaging Het
Pgbd5 T C 8: 125,160,750 (GRCm39) D39G probably benign Het
Pnisr G T 4: 21,871,440 (GRCm39) G387* probably null Het
Pnpla6 T C 8: 3,567,135 (GRCm39) L61P probably damaging Het
Prkra A T 2: 76,463,936 (GRCm39) I242N probably benign Het
Rp1 A G 1: 4,419,424 (GRCm39) S563P probably damaging Het
Rtp3 A G 9: 110,815,085 (GRCm39) probably benign Het
Sema3d A G 5: 12,591,023 (GRCm39) T301A probably damaging Het
Setmar A G 6: 108,053,076 (GRCm39) D190G probably benign Het
Sf3b2 A G 19: 5,345,061 (GRCm39) probably benign Het
Taf4b A G 18: 14,968,938 (GRCm39) K692E probably damaging Het
Tktl2 A G 8: 66,965,504 (GRCm39) E354G probably benign Het
Tspan4 A G 7: 141,071,557 (GRCm39) T135A probably damaging Het
Vmn1r22 G T 6: 57,877,733 (GRCm39) Y81* probably null Het
Vmn2r31 T C 7: 7,387,888 (GRCm39) E561G probably damaging Het
Xrn1 A T 9: 95,856,946 (GRCm39) K389N probably benign Het
Zfp277 A T 12: 40,378,719 (GRCm39) N379K probably damaging 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
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
R6384:Gnaq UTSW 19 16,293,377 (GRCm39) splice site probably null
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'- CGTGCAAGCATAAGGCAATGCAAAC -3'
(R):5'- TACTACAGCTCTGTGGACACGCTC -3'

Sequencing Primer
(F):5'- GGCAATGCAAACTAGTGCATATC -3'
(R):5'- TGGACACGCTCACAGAGTC -3'
Posted On 2014-04-24