Incidental Mutation 'IGL02660:Gp6'
ID302521
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gp6
Ensembl Gene ENSMUSG00000078810
Gene Nameglycoprotein 6 (platelet)
SynonymsGpvi, 9830166G18Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02660
Quality Score
Status
Chromosome7
Chromosomal Location4363965-4397744 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 4384998 bp
ZygosityHeterozygous
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]
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: 12,810,767 L341P probably damaging Het
Abcd3 A C 3: 121,784,020 N206K probably damaging Het
Adamtsl1 A G 4: 86,232,610 D335G probably damaging Het
Ankmy1 A T 1: 92,896,094 M150K probably damaging Het
Ap3b2 T C 7: 81,465,698 D680G probably benign Het
Asxl3 T A 18: 22,524,345 V1804D probably damaging Het
Bace2 T C 16: 97,415,140 V311A probably damaging Het
C2cd4c T A 10: 79,613,302 T4S probably benign Het
C2cd6 T C 1: 59,051,230 Y456C probably damaging Het
Cbr1 A G 16: 93,609,824 S143G probably benign Het
Ccdc191 A G 16: 43,960,099 T815A probably benign Het
Cenpf T A 1: 189,654,782 Q1767L probably damaging Het
Col6a5 A C 9: 105,936,886 N642K unknown Het
Dcaf10 G A 4: 45,372,769 R394Q possibly damaging Het
Ephb1 A T 9: 102,041,092 I406N possibly damaging Het
F13a1 A G 13: 36,943,894 V370A possibly damaging Het
Gm14403 A T 2: 177,509,464 H401L probably damaging Het
Gucy2e G A 11: 69,232,007 T514I probably benign Het
Hist1h2aa T C 13: 23,934,625 V55A probably damaging Het
Mok A G 12: 110,828,065 I63T probably damaging Het
Otop1 T C 5: 38,288,005 V169A probably damaging Het
Pdzph1 T A 17: 58,880,647 T1193S probably damaging Het
Plekha7 A G 7: 116,157,574 probably benign Het
Plekhm1 A T 11: 103,374,094 probably benign Het
Prex1 A G 2: 166,593,867 Y587H probably damaging Het
Scaf1 C A 7: 45,012,118 probably benign Het
Sema3f A T 9: 107,683,984 F601Y probably benign Het
Shoc2 T C 19: 53,988,021 I114T probably benign Het
Skint10 T A 4: 112,765,030 probably benign Het
Slc18b1 T C 10: 23,810,952 probably benign Het
Slco5a1 A G 1: 12,989,636 L287P probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Syncrip G T 9: 88,456,404 R536S probably benign Het
Trim5 C A 7: 104,266,218 R296L probably damaging Het
Vmn2r60 G T 7: 42,142,296 E548* probably null Het
Wdr26 A T 1: 181,198,898 W251R probably damaging Het
Other mutations in Gp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02141:Gp6 APN 7 4394104 splice site probably benign
IGL02351:Gp6 APN 7 4394508 missense probably benign 0.03
IGL02358:Gp6 APN 7 4394508 missense probably benign 0.03
IGL03081:Gp6 APN 7 4371648 missense probably benign 0.01
R0112:Gp6 UTSW 7 4370184 missense probably benign 0.08
R0112:Gp6 UTSW 7 4371627 missense probably benign 0.12
R0211:Gp6 UTSW 7 4373209 critical splice donor site probably null
R0356:Gp6 UTSW 7 4370142 splice site probably benign
R2006:Gp6 UTSW 7 4384989 missense probably benign 0.33
R2047:Gp6 UTSW 7 4373271 splice site probably benign
R5219:Gp6 UTSW 7 4368999 missense possibly damaging 0.70
R5571:Gp6 UTSW 7 4368900 missense probably damaging 1.00
R5639:Gp6 UTSW 7 4394131 missense probably damaging 1.00
R6224:Gp6 UTSW 7 4394212 missense probably benign 0.03
R6555:Gp6 UTSW 7 4384930 missense probably damaging 0.99
R7625:Gp6 UTSW 7 4370174 missense probably benign 0.37
R8113:Gp6 UTSW 7 4394115 missense probably benign 0.13
Posted On2015-04-16