Incidental Mutation 'R3849:Gp9'
ID 275810
Institutional Source Beutler Lab
Gene Symbol Gp9
Ensembl Gene ENSMUSG00000030054
Gene Name glycoprotein 9 platelet
Synonyms Cd42, GPIX
MMRRC Submission 040897-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3849 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 87755054-87756750 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87756133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 49 (I49M)
Ref Sequence ENSEMBL: ENSMUSP00000032133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032133]
AlphaFold O88186
Predicted Effect probably benign
Transcript: ENSMUST00000032133
AA Change: I49M

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000032133
Gene: ENSMUSG00000030054
AA Change: I49M

signal peptide 1 17 N/A INTRINSIC
LRRNT 19 55 2.84e-9 SMART
LRRCT 85 136 4.22e-9 SMART
transmembrane domain 147 169 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204945
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik A T 7: 136,978,069 (GRCm39) N102K possibly damaging Het
Abca1 C T 4: 53,061,481 (GRCm39) probably benign Het
Adamts17 T A 7: 66,490,215 (GRCm39) L99Q possibly damaging Het
Adamtsl1 A T 4: 86,336,783 (GRCm39) Q1564L probably damaging Het
Aspm T A 1: 139,386,024 (GRCm39) V556E probably benign Het
Axin1 T A 17: 26,406,771 (GRCm39) Y455N probably benign Het
Cacna2d3 A G 14: 29,069,077 (GRCm39) probably null Het
Car8 T A 4: 8,189,353 (GRCm39) I154F probably benign Het
Ccl27a T A 4: 41,773,232 (GRCm39) T76S probably benign Het
Cep170 G A 1: 176,583,409 (GRCm39) A990V probably benign Het
Chd1 A T 17: 15,952,133 (GRCm39) T291S probably damaging Het
Col3a1 C A 1: 45,361,150 (GRCm39) P112T unknown Het
Cpa4 T C 6: 30,590,872 (GRCm39) F390S probably damaging Het
Cul5 T G 9: 53,529,286 (GRCm39) M800L probably benign Het
Dst C T 1: 34,251,400 (GRCm39) S4165F probably damaging Het
Dusp8 T C 7: 141,643,802 (GRCm39) E37G probably damaging Het
Efr3b T C 12: 4,033,414 (GRCm39) N131S probably benign Het
Fan1 T C 7: 64,022,119 (GRCm39) Y378C probably damaging Het
Fcgr2b T C 1: 170,795,704 (GRCm39) N75S possibly damaging Het
Foxp4 A G 17: 48,186,453 (GRCm39) I442T unknown Het
Grip1 G A 10: 119,765,863 (GRCm39) G65D probably damaging Het
Hoxc10 T C 15: 102,875,879 (GRCm39) V196A probably benign Het
Hpx A G 7: 105,245,498 (GRCm39) C92R probably damaging Het
Ighv1-22 A G 12: 114,710,301 (GRCm39) F9S possibly damaging Het
Kif24 C T 4: 41,404,734 (GRCm39) R422H probably damaging Het
Klk1b1 T C 7: 43,618,751 (GRCm39) Y43H probably damaging Het
Lmo7 A G 14: 102,159,531 (GRCm39) probably null Het
Lrguk A G 6: 34,050,703 (GRCm39) D387G probably damaging Het
Lysmd1 G A 3: 95,045,772 (GRCm39) G203D probably damaging Het
Mpnd T C 17: 56,318,692 (GRCm39) S150P probably damaging Het
Mrc2 T C 11: 105,183,729 (GRCm39) probably null Het
Mtr A G 13: 12,262,251 (GRCm39) S152P probably benign Het
Naip2 A T 13: 100,315,940 (GRCm39) L280Q probably damaging Het
Naip2 G C 13: 100,315,941 (GRCm39) L280V probably damaging Het
Ndufa13 T C 8: 70,354,260 (GRCm39) D9G probably damaging Het
Nek1 T A 8: 61,525,349 (GRCm39) F596I probably damaging Het
Nsd1 A G 13: 55,394,504 (GRCm39) T702A probably benign Het
Or7d10 A T 9: 19,832,105 (GRCm39) Y200F probably damaging Het
Pam T A 1: 97,782,481 (GRCm39) probably benign Het
Plxna1 C A 6: 89,333,501 (GRCm39) R376L probably damaging Het
Plxnc1 A G 10: 94,630,294 (GRCm39) V1535A probably benign Het
Prdx5 A G 19: 6,884,218 (GRCm39) L166P probably damaging Het
Prol1 A T 5: 88,476,476 (GRCm39) I289F unknown Het
Prss23 T C 7: 89,158,959 (GRCm39) Y370C probably damaging Het
Rimbp3 A T 16: 17,028,163 (GRCm39) H529L probably benign Het
Rnase2b T A 14: 51,400,205 (GRCm39) H95Q probably damaging Het
Rnf103 C G 6: 71,485,859 (GRCm39) C163W probably damaging Het
Rnf17 T C 14: 56,749,753 (GRCm39) V1433A probably damaging Het
Rusf1 C T 7: 127,884,380 (GRCm39) V201I probably damaging Het
Syne2 C T 12: 76,092,839 (GRCm39) Q5150* probably null Het
Tas2r110 T A 6: 132,845,638 (GRCm39) I223N probably damaging Het
Tead2 T A 7: 44,881,752 (GRCm39) probably null Het
Vwa3a A T 7: 120,361,687 (GRCm39) K133* probably null Het
Vwce T C 19: 10,624,269 (GRCm39) S387P probably damaging Het
Zbtb41 T A 1: 139,351,734 (GRCm39) H282Q probably benign Het
Other mutations in Gp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02900:Gp9 APN 6 87,756,415 (GRCm39) missense probably damaging 1.00
R2173:Gp9 UTSW 6 87,756,035 (GRCm39) missense probably benign 0.05
R3778:Gp9 UTSW 6 87,755,987 (GRCm39) start codon destroyed probably benign 0.00
R3847:Gp9 UTSW 6 87,756,133 (GRCm39) missense probably benign 0.08
R4936:Gp9 UTSW 6 87,756,229 (GRCm39) missense probably benign 0.02
R8073:Gp9 UTSW 6 87,756,336 (GRCm39) missense probably benign 0.00
R8373:Gp9 UTSW 6 87,755,994 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-06