Incidental Mutation 'IGL02400:Gnaq'
ID 291845
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02400
Quality Score
Status
Chromosome 19
Chromosomal Location 16110195-16364827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16293492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 145 (Y145H)
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: Y145H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025541
Gene: ENSMUSG00000024639
AA Change: Y145H

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
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A G 10: 76,290,644 (GRCm39) I128V possibly damaging Het
Arfgef3 G T 10: 18,522,005 (GRCm39) Q674K probably damaging Het
Atp6v0a2 T A 5: 124,798,849 (GRCm39) N851K probably benign Het
Chrna7 A G 7: 62,749,070 (GRCm39) C471R probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Egflam T A 15: 7,276,534 (GRCm39) K544M probably benign Het
Erbb3 A C 10: 128,415,393 (GRCm39) N385K probably benign Het
Fancm A G 12: 65,160,589 (GRCm39) R1388G probably damaging Het
Gm10720 C A 9: 3,016,900 (GRCm39) probably null Het
Gm20489 A T X: 100,306,944 (GRCm39) N328K possibly damaging Het
Gm5828 G T 1: 16,840,042 (GRCm39) noncoding transcript Het
Itgbl1 A G 14: 124,083,938 (GRCm39) D148G probably damaging Het
Myc T G 15: 61,861,760 (GRCm39) probably benign Het
Or10d5 A G 9: 39,861,635 (GRCm39) V144A probably benign Het
Or5m3b A T 2: 85,872,420 (GRCm39) I254F probably benign Het
Or6c211 A G 10: 129,505,752 (GRCm39) V212A probably damaging Het
Padi3 T G 4: 140,516,179 (GRCm39) K567T probably benign Het
Pi4ka T C 16: 17,111,748 (GRCm39) T1576A probably damaging Het
Pikfyve A G 1: 65,291,728 (GRCm39) R1316G probably damaging Het
Ryr2 A G 13: 11,620,130 (GRCm39) probably benign Het
Sash1 G A 10: 8,609,411 (GRCm39) R713* probably null Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Tnfsf4 T A 1: 161,223,276 (GRCm39) C42S possibly damaging Het
Tpp1 A G 7: 105,396,238 (GRCm39) I487T possibly damaging Het
Trim43a T A 9: 88,464,165 (GRCm39) N25K probably benign Het
Tuft1 T C 3: 94,542,809 (GRCm39) probably benign Het
Usp46 T C 5: 74,197,713 (GRCm39) H26R probably benign Het
Zfp560 A T 9: 20,261,896 (GRCm39) I85N possibly 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
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
R9019:Gnaq UTSW 19 16,355,638 (GRCm39) missense probably benign
Posted On 2015-04-16