Incidental Mutation 'IGL02660:Gp6'
ID 302521
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 # IGL02660
Quality Score
Status
Chromosome 7
Chromosomal Location 4366964-4400743 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 4387997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 157 (R157S)
Ref Sequence ENSEMBL: ENSMUSP00000145740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108590] [ENSMUST00000206928]
AlphaFold P0C191
Predicted Effect probably benign
Transcript: ENSMUST00000108590
AA Change: R157S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104231
Gene: ENSMUSG00000078810
AA Change: R157S

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 noncoding transcript
Transcript: ENSMUST00000177728
Predicted Effect probably benign
Transcript: ENSMUST00000206928
AA Change: R157S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik A G 15: 12,810,853 (GRCm39) L341P probably damaging Het
Abcd3 A C 3: 121,577,669 (GRCm39) N206K probably damaging Het
Adamtsl1 A G 4: 86,150,847 (GRCm39) D335G probably damaging Het
Ankmy1 A T 1: 92,823,816 (GRCm39) M150K probably damaging Het
Ap3b2 T C 7: 81,115,446 (GRCm39) D680G probably benign Het
Asxl3 T A 18: 22,657,402 (GRCm39) V1804D probably damaging Het
Bace2 T C 16: 97,216,340 (GRCm39) V311A probably damaging Het
C2cd4c T A 10: 79,449,136 (GRCm39) T4S probably benign Het
C2cd6 T C 1: 59,090,389 (GRCm39) Y456C probably damaging Het
Cbr1 A G 16: 93,406,712 (GRCm39) S143G probably benign Het
Ccdc191 A G 16: 43,780,462 (GRCm39) T815A probably benign Het
Cenpf T A 1: 189,386,979 (GRCm39) Q1767L probably damaging Het
Col6a5 A C 9: 105,814,085 (GRCm39) N642K unknown Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Ephb1 A T 9: 101,918,291 (GRCm39) I406N possibly damaging Het
F13a1 A G 13: 37,127,868 (GRCm39) V370A possibly damaging Het
Gm14403 A T 2: 177,201,257 (GRCm39) H401L probably damaging Het
Gucy2e G A 11: 69,122,833 (GRCm39) T514I probably benign Het
H2ac1 T C 13: 24,118,608 (GRCm39) V55A probably damaging Het
Mok A G 12: 110,794,499 (GRCm39) I63T probably damaging Het
Otop1 T C 5: 38,445,349 (GRCm39) V169A probably damaging Het
Pdzph1 T A 17: 59,187,642 (GRCm39) T1193S probably damaging Het
Plekha7 A G 7: 115,756,809 (GRCm39) probably benign Het
Plekhm1 A T 11: 103,264,920 (GRCm39) probably benign Het
Prex1 A G 2: 166,435,787 (GRCm39) Y587H probably damaging Het
Scaf1 C A 7: 44,661,542 (GRCm39) probably benign Het
Sema3f A T 9: 107,561,183 (GRCm39) F601Y probably benign Het
Shoc2 T C 19: 53,976,452 (GRCm39) I114T probably benign Het
Skint10 T A 4: 112,622,227 (GRCm39) probably benign Het
Slc18b1 T C 10: 23,686,850 (GRCm39) probably benign Het
Slco5a1 A G 1: 13,059,860 (GRCm39) L287P probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Trim5 C A 7: 103,915,425 (GRCm39) R296L probably damaging Het
Vmn2r60 G T 7: 41,791,720 (GRCm39) E548* probably null Het
Wdr26 A T 1: 181,026,463 (GRCm39) W251R 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
IGL03081:Gp6 APN 7 4,374,647 (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 2015-04-16