Incidental Mutation 'R9019:Gnaq'
ID 686637
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 068849-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9019 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 16110195-16364827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16355638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 285 (Y285H)
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 benign
Transcript: ENSMUST00000025541
AA Change: Y285H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025541
Gene: ENSMUSG00000024639
AA Change: Y285H

DomainStartEndE-ValueType
G_alpha 19 358 1.24e-216 SMART
Meta Mutation Damage Score 0.0576 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (48/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,011,522 (GRCm39) T1174S Het
Aoc2 C T 11: 101,216,262 (GRCm39) P115L possibly damaging Het
Arhgef19 C T 4: 140,973,738 (GRCm39) P75L probably benign Het
Atad3a A G 4: 155,838,052 (GRCm39) V240A possibly damaging Het
AW551984 A T 9: 39,508,973 (GRCm39) L317* probably null Het
Bdkrb1 T C 12: 105,570,700 (GRCm39) S89P probably damaging Het
Bpifb4 T A 2: 153,790,607 (GRCm39) L166* probably null Het
Ccdc27 A G 4: 154,124,014 (GRCm39) V173A unknown Het
Ccl8 T C 11: 82,006,877 (GRCm39) V30A probably benign Het
Cdc16 C T 8: 13,831,501 (GRCm39) A578V probably benign Het
Cnksr1 T C 4: 133,959,365 (GRCm39) Y423C probably damaging Het
Cyp3a44 T C 5: 145,727,519 (GRCm39) D270G probably damaging Het
Ep300 A G 15: 81,532,730 (GRCm39) E1656G unknown Het
Eppk1 A G 15: 75,992,472 (GRCm39) F1470L probably benign Het
Fbxw16 T A 9: 109,270,135 (GRCm39) D202V probably damaging Het
Fndc3a G A 14: 72,811,840 (GRCm39) T330I probably benign Het
Gm36864 A T 7: 43,887,028 (GRCm39) Q307L probably benign Het
Gm37240 T C 3: 84,426,946 (GRCm39) E38G probably damaging Het
Gm6871 A T 7: 41,195,262 (GRCm39) C492S probably damaging Het
Htt T A 5: 35,023,920 (GRCm39) F1723I probably damaging Het
Il21r G A 7: 125,231,472 (GRCm39) S300N probably damaging Het
Itm2b G A 14: 73,605,856 (GRCm39) probably benign Het
Kat6a T C 8: 23,425,754 (GRCm39) S1100P probably damaging Het
Kcnj2 T C 11: 110,963,415 (GRCm39) I269T probably damaging Het
Kmt2c G A 5: 25,488,208 (GRCm39) A4635V probably damaging Het
Kng2 A T 16: 22,847,546 (GRCm39) D38E probably damaging Het
Lgr5 A C 10: 115,314,454 (GRCm39) L161R probably damaging Het
Lrig2 A T 3: 104,368,914 (GRCm39) I923N probably benign Het
Mrgprh T C 17: 13,096,200 (GRCm39) S147P probably damaging Het
Mthfd1 C T 12: 76,350,754 (GRCm39) T712M probably benign Het
Nsmaf A T 4: 6,418,523 (GRCm39) S427R probably damaging Het
Or8g53 G T 9: 39,684,038 (GRCm39) D19E probably benign Het
Pdcd11 G T 19: 47,101,658 (GRCm39) G948C probably damaging Het
Pdzd2 A G 15: 12,375,612 (GRCm39) Y1508H probably damaging Het
Prmt5 G T 14: 54,753,564 (GRCm39) A105E probably benign Het
Prr23a3 T C 9: 98,747,213 (GRCm39) S56P probably damaging Het
Slc44a2 A G 9: 21,265,077 (GRCm39) E705G probably damaging Het
Sostdc1 A T 12: 36,364,431 (GRCm39) N47Y probably benign Het
Speg T C 1: 75,405,882 (GRCm39) Y3029H probably damaging Het
Srd5a1 G A 13: 69,748,413 (GRCm39) R129* probably null Het
Srrm4 A G 5: 116,605,586 (GRCm39) S224P unknown Het
Syne2 A G 12: 75,999,618 (GRCm39) E2337G possibly damaging Het
Tmem150c C A 5: 100,240,958 (GRCm39) V32L probably benign Het
Topaz1 T C 9: 122,619,192 (GRCm39) I1263T possibly damaging Het
Ttc39d C T 17: 80,523,349 (GRCm39) R3W probably benign Het
Xylt1 T C 7: 117,250,038 (GRCm39) probably null Het
Zfp933 A T 4: 147,911,021 (GRCm39) C192S probably damaging Het
Zswim8 G A 14: 20,761,119 (GRCm39) G129D 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
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
Predicted Primers PCR Primer
(F):5'- CCAGGTCACCAACTATGTCATC -3'
(R):5'- ATGTCACTACAAGTCAGGGAACAG -3'

Sequencing Primer
(F):5'- GGTCACCAACTATGTCATCAGTAAC -3'
(R):5'- ATGTCCTCATGGGCCCTGTG -3'
Posted On 2021-11-19