Incidental Mutation 'R0800:Gnaq'
ID 76259
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 038980-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0800 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 16110195-16364827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16312428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 230 (V230E)
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 damaging
Transcript: ENSMUST00000025541
AA Change: V230E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025541
Gene: ENSMUSG00000024639
AA Change: V230E

DomainStartEndE-ValueType
G_alpha 19 358 1.24e-216 SMART
Meta Mutation Damage Score 0.9307 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.7%
Validation Efficiency 98% (52/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B230217C12Rik T C 11: 97,732,086 (GRCm39) probably benign Het
Cacna1g T C 11: 94,317,265 (GRCm39) D1498G probably damaging Het
Ces3b T A 8: 105,811,901 (GRCm39) D103E possibly damaging Het
Chd5 A G 4: 152,440,614 (GRCm39) Y158C probably damaging Het
Cic A G 7: 24,984,662 (GRCm39) T1033A probably benign Het
Cst13 A T 2: 148,672,247 (GRCm39) I141F possibly damaging Het
Dnah7a A G 1: 53,604,855 (GRCm39) L1301P probably damaging Het
Dnah8 T A 17: 30,923,636 (GRCm39) F1201L probably benign Het
Dok7 T C 5: 35,232,633 (GRCm39) probably benign Het
Dzip3 A G 16: 48,774,171 (GRCm39) probably benign Het
Eml6 A G 11: 29,699,877 (GRCm39) V1753A probably benign Het
Fer1l4 A G 2: 155,887,583 (GRCm39) F538L possibly damaging Het
Fmo2 C T 1: 162,704,383 (GRCm39) D508N probably benign Het
Gabpb1 A T 2: 126,472,248 (GRCm39) Y351N probably damaging Het
Gprc5c A C 11: 114,757,537 (GRCm39) K48Q probably damaging Het
Gzmd A G 14: 56,369,948 (GRCm39) L11P unknown Het
Hbq1b A C 11: 32,237,581 (GRCm39) H123P probably damaging Het
Hibadh T A 6: 52,533,490 (GRCm39) I209F probably damaging Het
Il17f G T 1: 20,848,177 (GRCm39) C100* probably null Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Itga8 A T 2: 12,198,362 (GRCm39) V541E possibly damaging Het
Kifc5b T A 17: 27,142,158 (GRCm39) V212D probably benign Het
Klra2 A T 6: 131,207,137 (GRCm39) Y157* probably null Het
Kprp T C 3: 92,732,342 (GRCm39) Y236C unknown Het
Mmp12 A T 9: 7,357,827 (GRCm39) M414L possibly damaging Het
Myh6 A G 14: 55,190,735 (GRCm39) probably benign Het
Nlgn2 A G 11: 69,716,823 (GRCm39) F573L possibly damaging Het
Or10j7 C T 1: 173,011,627 (GRCm39) A125T probably damaging Het
Or4c124 A G 2: 89,156,008 (GRCm39) V172A probably benign Het
Pakap T A 4: 57,709,650 (GRCm39) D198E probably benign Het
Papss1 T A 3: 131,305,615 (GRCm39) probably benign Het
Parp4 A G 14: 56,827,408 (GRCm39) T181A probably benign Het
Piwil2 A T 14: 70,646,486 (GRCm39) probably benign Het
Pla2g12b A G 10: 59,239,642 (GRCm39) N17S probably benign Het
Polr3c C A 3: 96,626,627 (GRCm39) V266L probably damaging Het
Pou3f3 A G 1: 42,737,527 (GRCm39) T408A probably damaging Het
Pskh1 A G 8: 106,640,238 (GRCm39) Y306C probably damaging Het
Rom1 T A 19: 8,906,272 (GRCm39) D89V probably damaging Het
Sell T A 1: 163,893,770 (GRCm39) probably null Het
Sox6 A G 7: 115,178,249 (GRCm39) probably null Het
Speg T C 1: 75,400,133 (GRCm39) S2527P probably damaging Het
Stat3 A G 11: 100,784,981 (GRCm39) probably benign Het
Stra6l A G 4: 45,882,797 (GRCm39) T503A probably benign Het
Tapbp A G 17: 34,145,227 (GRCm39) T375A probably benign Het
Tgm6 G A 2: 129,985,342 (GRCm39) V382M possibly damaging Het
Trappc9 A T 15: 72,824,981 (GRCm39) probably benign Het
Txlnb A G 10: 17,675,240 (GRCm39) N131S possibly damaging Het
Usp19 A G 9: 108,372,353 (GRCm39) E469G probably damaging Het
Vmn2r17 T A 5: 109,575,192 (GRCm39) probably benign Het
Zfp750 T C 11: 121,402,838 (GRCm39) T637A probably benign Het
Zhx2 A C 15: 57,686,124 (GRCm39) I498L 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
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
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'- GCATGTGAGGCTCTTCACTCTGAC -3'
(R):5'- TGGGAACCTGAGTTCCATCCCTAC -3'

Sequencing Primer
(F):5'- GGTAACCACAGCAATTTCTGTGTC -3'
(R):5'- ACAGGCTGCCCTGTGATATTC -3'
Posted On 2013-10-16