Incidental Mutation 'IGL03081:Gp6'
ID 417863
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gp6
Ensembl Gene ENSMUSG00000078810
Gene Name glycoprotein 6 platelet
Synonyms Gpvi, 9830166G18Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03081
Quality Score
Status
Chromosome 7
Chromosomal Location 4366964-4400743 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4374647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 225 (S225P)
Ref Sequence ENSEMBL: ENSMUSP00000145740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108590] [ENSMUST00000206928]
AlphaFold P0C191
Predicted Effect probably benign
Transcript: ENSMUST00000108590
SMART Domains Protein: ENSMUSP00000104231
Gene: ENSMUSG00000078810

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IG 34 109 7.47e-3 SMART
IG 120 204 9.86e-3 SMART
transmembrane domain 266 285 N/A INTRINSIC
low complexity region 306 312 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206928
AA Change: S225P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous with disruptions in this gene display functional abnormalities in their platelets including failure of the platelets to aggregate and to become activated. The effects on blood clotting are minor however. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 C A 19: 43,770,841 (GRCm39) probably benign Het
Acan T G 7: 78,748,291 (GRCm39) S1021A probably benign Het
Adamts6 A G 13: 104,581,464 (GRCm39) probably benign Het
Apc2 A G 10: 80,148,086 (GRCm39) K1018E probably damaging Het
Arhgef28 A T 13: 98,165,881 (GRCm39) probably benign Het
Atp2b1 T C 10: 98,830,675 (GRCm39) probably benign Het
Cct6b A T 11: 82,654,995 (GRCm39) L20* probably null Het
Cd300ld2 G A 11: 114,903,368 (GRCm39) probably benign Het
Cdc23 T G 18: 34,769,757 (GRCm39) K454T probably damaging Het
Cdh20 A T 1: 104,868,982 (GRCm39) I158F probably damaging Het
Cdk14 C T 5: 4,999,527 (GRCm39) probably benign Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clec2i A T 6: 128,871,728 (GRCm39) Y113F probably damaging Het
Dmpk T A 7: 18,821,458 (GRCm39) S239T probably damaging Het
Dnah8 T C 17: 30,905,347 (GRCm39) probably benign Het
Exoc2 A G 13: 31,084,885 (GRCm39) Y359H probably benign Het
Eya1 A T 1: 14,253,415 (GRCm39) F520L possibly damaging Het
Fgfr1op2 A T 6: 146,498,817 (GRCm39) I217F probably damaging Het
Gm12258 A G 11: 58,749,085 (GRCm39) N87D probably benign Het
Hdac7 T C 15: 97,696,187 (GRCm39) Y619C probably damaging Het
Lars1 A G 18: 42,343,156 (GRCm39) I1087T probably benign Het
Lrrc37a G T 11: 103,347,421 (GRCm39) H3091Q unknown Het
Mcm3ap T C 10: 76,306,150 (GRCm39) S88P possibly damaging Het
Mrps23 G A 11: 88,101,043 (GRCm39) R117Q probably benign Het
Nbea T C 3: 55,987,339 (GRCm39) S384G probably damaging Het
Ndufs4 A T 13: 114,444,373 (GRCm39) I135N possibly damaging Het
Noto T C 6: 85,401,091 (GRCm39) F40S probably damaging Het
Nr5a1 A T 2: 38,600,544 (GRCm39) V41D possibly damaging Het
Or8b50 C T 9: 38,518,166 (GRCm39) A135V probably benign Het
Papola T A 12: 105,785,114 (GRCm39) H415Q probably damaging Het
Pcm1 C T 8: 41,728,097 (GRCm39) T557I probably damaging Het
Pde11a A T 2: 75,906,274 (GRCm39) probably benign Het
Pls1 A G 9: 95,655,696 (GRCm39) V352A probably damaging Het
Pygm T C 19: 6,438,851 (GRCm39) S226P possibly damaging Het
Rnf17 T A 14: 56,671,828 (GRCm39) S273R probably benign Het
Scamp2 T C 9: 57,494,410 (GRCm39) V261A possibly damaging Het
Slc7a12 T A 3: 14,546,315 (GRCm39) F153L probably benign Het
Smchd1 A T 17: 71,667,186 (GRCm39) D1735E probably damaging Het
Stk40 A G 4: 126,017,507 (GRCm39) probably null Het
Tas2r124 C T 6: 132,732,497 (GRCm39) L269F possibly damaging Het
Tmem260 A C 14: 48,733,750 (GRCm39) I216L probably benign Het
Ubr1 C A 2: 120,791,637 (GRCm39) A116S possibly damaging Het
Unc13a T C 8: 72,102,193 (GRCm39) K991R probably damaging Het
Vmn2r66 T C 7: 84,657,138 (GRCm39) Y89C probably benign Het
Vps13b A C 15: 35,875,966 (GRCm39) I2784L probably damaging Het
Zbtb26 T A 2: 37,326,612 (GRCm39) K141N possibly damaging Het
Zranb1 T A 7: 132,552,126 (GRCm39) M259K probably damaging Het
Other mutations in Gp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02141:Gp6 APN 7 4,397,103 (GRCm39) splice site probably benign
IGL02351:Gp6 APN 7 4,397,507 (GRCm39) missense probably benign 0.03
IGL02358:Gp6 APN 7 4,397,507 (GRCm39) missense probably benign 0.03
IGL02660:Gp6 APN 7 4,387,997 (GRCm39) missense probably benign 0.01
R0112:Gp6 UTSW 7 4,374,626 (GRCm39) missense probably benign 0.12
R0112:Gp6 UTSW 7 4,373,183 (GRCm39) missense probably benign 0.08
R0211:Gp6 UTSW 7 4,376,208 (GRCm39) critical splice donor site probably null
R0356:Gp6 UTSW 7 4,373,141 (GRCm39) splice site probably benign
R2006:Gp6 UTSW 7 4,387,988 (GRCm39) missense probably benign 0.33
R2047:Gp6 UTSW 7 4,376,270 (GRCm39) splice site probably benign
R5219:Gp6 UTSW 7 4,371,998 (GRCm39) missense possibly damaging 0.70
R5571:Gp6 UTSW 7 4,371,899 (GRCm39) missense probably damaging 1.00
R5639:Gp6 UTSW 7 4,397,130 (GRCm39) missense probably damaging 1.00
R6224:Gp6 UTSW 7 4,397,211 (GRCm39) missense probably benign 0.03
R6555:Gp6 UTSW 7 4,387,929 (GRCm39) missense probably damaging 0.99
R7625:Gp6 UTSW 7 4,373,173 (GRCm39) missense probably benign 0.37
R8113:Gp6 UTSW 7 4,397,114 (GRCm39) missense probably benign 0.13
Posted On 2016-08-02