Incidental Mutation 'R3778:Gp9'
ID 271893
Institutional Source Beutler Lab
Gene Symbol Gp9
Ensembl Gene ENSMUSG00000030054
Gene Name glycoprotein 9 platelet
Synonyms Cd42, GPIX
MMRRC Submission 040750-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3778 (G1)
Quality Score 190
Status Not validated
Chromosome 6
Chromosomal Location 87755054-87756750 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 87755987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000032133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032133]
AlphaFold O88186
Predicted Effect probably benign
Transcript: ENSMUST00000032133
AA Change: M1L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000032133
Gene: ENSMUSG00000030054
AA Change: M1L

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A T 15: 64,618,846 (GRCm39) L769H probably damaging Het
Aldh1a7 A T 19: 20,696,675 (GRCm39) M106K possibly damaging Het
Ankfn1 G T 11: 89,332,220 (GRCm39) P442Q probably damaging Het
Aox1 A C 1: 58,092,862 (GRCm39) D158A possibly damaging Het
Apc A G 18: 34,446,134 (GRCm39) N976S probably damaging Het
Cfap54 C T 10: 92,740,206 (GRCm39) probably benign Het
Cldn1 C T 16: 26,190,216 (GRCm39) C54Y probably damaging Het
Col22a1 A T 15: 71,845,541 (GRCm39) I407N probably damaging Het
Cyp2e1 T C 7: 140,343,822 (GRCm39) V20A possibly damaging Het
Erp27 A T 6: 136,896,901 (GRCm39) N100K possibly damaging Het
Fbn1 C T 2: 125,159,006 (GRCm39) C2253Y probably damaging Het
Fhip1b T A 7: 105,037,435 (GRCm39) T383S probably damaging Het
Flnb G A 14: 7,915,353 (GRCm38) V1495I probably benign Het
Fscn3 A C 6: 28,430,031 (GRCm39) K67T possibly damaging Het
Gls A G 1: 52,208,071 (GRCm39) V571A probably benign Het
Gm14569 T A X: 35,696,085 (GRCm39) M875L probably benign Het
Gm4871 A G 5: 144,966,893 (GRCm39) S197P probably damaging Het
Gm7104 A T 12: 88,252,441 (GRCm39) noncoding transcript Het
Greb1l T A 18: 10,469,444 (GRCm39) L153H possibly damaging Het
H1f8 T C 6: 115,926,708 (GRCm39) probably null Het
Hadha A T 5: 30,325,127 (GRCm39) C688S probably damaging Het
Hif1an A G 19: 44,557,847 (GRCm39) D243G probably damaging Het
Hmcn1 A T 1: 150,678,575 (GRCm39) D515E possibly damaging Het
Hsfy2 A T 1: 56,675,847 (GRCm39) V230E possibly damaging Het
Ighv1-72 A T 12: 115,721,636 (GRCm39) S107T probably damaging Het
Inpp4b T A 8: 82,768,621 (GRCm39) V710D possibly damaging Het
Itpr3 A G 17: 27,314,446 (GRCm39) D632G possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Lrig2 A G 3: 104,365,277 (GRCm39) I625T probably benign Het
Lrp2 A T 2: 69,339,548 (GRCm39) M1121K probably benign Het
Man2b2 T C 5: 36,972,871 (GRCm39) N548D probably benign Het
Mei1 T C 15: 81,966,209 (GRCm39) L277P probably damaging Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Mycbp2 T A 14: 103,434,721 (GRCm39) I2241F probably damaging Het
Nalcn G A 14: 123,702,128 (GRCm39) T461M probably damaging Het
Ncoa6 A G 2: 155,263,115 (GRCm39) S440P probably damaging Het
Ncoa7 A G 10: 30,565,752 (GRCm39) Y632H probably damaging Het
Notch2 T C 3: 98,053,939 (GRCm39) S2201P probably damaging Het
Or10c1 T C 17: 37,522,649 (GRCm39) T32A probably benign Het
Or5p52 C A 7: 107,501,954 (GRCm39) A10E probably benign Het
Pard6g A T 18: 80,123,038 (GRCm39) probably null Het
Pask T A 1: 93,255,189 (GRCm39) I294F probably damaging Het
Pax9 A G 12: 56,743,533 (GRCm39) Y60C probably damaging Het
Pcdh15 G A 10: 73,782,983 (GRCm39) probably null Het
Pik3c2g A T 6: 139,599,385 (GRCm39) Y167F probably damaging Het
Ppfibp2 A G 7: 107,328,396 (GRCm39) T476A probably benign Het
Ppm1e T C 11: 87,139,754 (GRCm39) probably null Het
Rsph14 T G 10: 74,793,420 (GRCm39) Q360P possibly damaging Het
Rsph14 C G 10: 74,793,419 (GRCm39) Q360H possibly damaging Het
Sec24c A G 14: 20,733,375 (GRCm39) Q234R possibly damaging Het
Shcbp1 A T 8: 4,786,295 (GRCm39) N602K probably benign Het
Sirt5 A G 13: 43,536,583 (GRCm39) probably null Het
Slc66a1 T C 4: 139,026,293 (GRCm39) probably null Het
Sp8 G T 12: 118,812,750 (GRCm39) V202L possibly damaging Het
Tle6 G T 10: 81,431,987 (GRCm39) P86T probably benign Het
Tmem235 A T 11: 117,753,126 (GRCm39) H83L probably benign Het
Trappc10 A G 10: 78,036,636 (GRCm39) V861A possibly damaging Het
Trpm2 A C 10: 77,771,824 (GRCm39) L605R probably benign Het
Vat1l T C 8: 114,963,540 (GRCm39) probably null Het
Wnt6 A C 1: 74,821,941 (GRCm39) D174A possibly damaging Het
Wwox T C 8: 115,601,347 (GRCm39) C355R probably benign Het
Zfp229 A T 17: 21,964,183 (GRCm39) T138S 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
R3847:Gp9 UTSW 6 87,756,133 (GRCm39) missense probably benign 0.08
R3849: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 2015-03-25