Incidental Mutation 'IGL02297:Gnaq'
ID 290199
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 # IGL02297
Quality Score
Status
Chromosome 19
Chromosomal Location 16110195-16364827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16355615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 277 (D277G)
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: D277G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025541
Gene: ENSMUSG00000024639
AA Change: D277G

DomainStartEndE-ValueType
G_alpha 19 358 1.24e-216 SMART
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aifm2 C T 10: 61,571,327 (GRCm39) A287V possibly damaging Het
Aqr A G 2: 113,980,962 (GRCm39) I273T probably benign Het
Arid3c T C 4: 41,730,021 (GRCm39) E58G possibly damaging Het
Col5a3 G T 9: 20,683,450 (GRCm39) T1574K unknown Het
Dbh T C 2: 27,067,748 (GRCm39) V457A probably benign Het
Gm12888 T C 4: 121,181,996 (GRCm39) E32G probably damaging Het
Il20 G A 1: 130,836,145 (GRCm39) H133Y probably damaging Het
Itpr1 T A 6: 108,316,478 (GRCm39) F58L possibly damaging Het
Lynx1 G T 15: 74,623,491 (GRCm39) Q19K probably benign Het
Lyst G T 13: 13,812,677 (GRCm39) E1030* probably null Het
Matn1 T A 4: 130,679,575 (GRCm39) probably benign Het
Nav2 A T 7: 49,243,977 (GRCm39) N2068I probably damaging Het
Or5b3 C T 19: 13,388,839 (GRCm39) T302I probably benign Het
Or8g30 T C 9: 39,229,999 (GRCm39) I304V possibly damaging Het
Slc25a23 G T 17: 57,360,324 (GRCm39) Q273K probably benign Het
Slco4a1 T G 2: 180,106,282 (GRCm39) C155G probably benign Het
Txnip T C 3: 96,465,673 (GRCm39) V41A probably damaging Het
Wnt16 C A 6: 22,297,990 (GRCm39) Y285* probably null Het
Other mutations in Gnaq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01967:Gnaq APN 19 16,355,524 (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
R9019:Gnaq UTSW 19 16,355,638 (GRCm39) missense probably benign
Posted On 2015-04-16