Incidental Mutation 'R0356:Gp6'
ID 29823
Institutional Source Beutler Lab
Gene Symbol Gp6
Ensembl Gene ENSMUSG00000078810
Gene Name glycoprotein 6 platelet
Synonyms Gpvi, 9830166G18Rik
MMRRC Submission 038562-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0356 (G1)
Quality Score 193
Status Validated
Chromosome 7
Chromosomal Location 4366964-4400743 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 4373141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.6%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 100% (47/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,418 (GRCm39) probably benign Het
Adgrg6 C T 10: 14,302,642 (GRCm39) V924M possibly damaging Het
Anxa9 A G 3: 95,215,387 (GRCm39) probably benign Het
Ap3d1 G T 10: 80,563,812 (GRCm39) S122R probably damaging Het
Arhgap5 T C 12: 52,563,091 (GRCm39) S21P probably damaging Het
Atp13a5 A G 16: 29,167,573 (GRCm39) probably benign Het
AU040320 A T 4: 126,731,155 (GRCm39) D618V probably damaging Het
Cbfa2t2 T A 2: 154,373,269 (GRCm39) D475E probably benign Het
Ccdc202 T A 14: 96,119,801 (GRCm39) V186E possibly damaging Het
Ccdc62 G A 5: 124,092,811 (GRCm39) V599I probably benign Het
Cenpj T C 14: 56,786,953 (GRCm39) E917G probably damaging Het
Cog5 T C 12: 31,887,180 (GRCm39) probably benign Het
Col9a1 T A 1: 24,224,328 (GRCm39) L170* probably null Het
Daxx T A 17: 34,132,867 (GRCm39) V627D probably benign Het
Dnah9 A G 11: 66,021,388 (GRCm39) probably null Het
Drg2 T A 11: 60,352,407 (GRCm39) V203E probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Fer1l4 T C 2: 155,865,930 (GRCm39) Y1586C probably damaging Het
Hhip T C 8: 80,724,121 (GRCm39) I374V probably benign Het
Hspa12b G T 2: 130,986,719 (GRCm39) V547L possibly damaging Het
Iars1 G A 13: 49,856,709 (GRCm39) V321I probably benign Het
Itga8 T C 2: 12,187,532 (GRCm39) M716V possibly damaging Het
Lcn5 T C 2: 25,550,705 (GRCm39) I131T probably damaging Het
Mki67 G A 7: 135,306,135 (GRCm39) T614M probably benign Het
Mmp3 G A 9: 7,451,768 (GRCm39) E369K probably benign Het
Myt1l A G 12: 29,861,500 (GRCm39) D94G unknown Het
Neil1 T C 9: 57,054,180 (GRCm39) I47V possibly damaging Het
Nr5a2 T C 1: 136,773,430 (GRCm39) N424S possibly damaging Het
Or1e21 A T 11: 73,344,906 (GRCm39) I44N possibly damaging Het
Or51f5 A T 7: 102,424,286 (GRCm39) D185V probably damaging Het
Or5b120 A G 19: 13,480,441 (GRCm39) T245A possibly damaging Het
Or7e166 G T 9: 19,624,743 (GRCm39) G207C probably damaging Het
Pakap C A 4: 57,855,628 (GRCm39) T360K possibly damaging Het
Pde8b G T 13: 95,182,962 (GRCm39) N265K probably damaging Het
Prpf40b T C 15: 99,203,080 (GRCm39) probably null Het
Samd9l T C 6: 3,375,107 (GRCm39) D718G possibly damaging Het
Sirpb1c T C 3: 15,887,309 (GRCm39) N175D possibly damaging Het
Srgap1 A T 10: 121,691,441 (GRCm39) probably null Het
Tgm5 T A 2: 120,884,055 (GRCm39) T313S probably damaging Het
Tigar A G 6: 127,068,145 (GRCm39) probably null Het
Tmprss11b A G 5: 86,808,326 (GRCm39) *417Q probably null Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Ttll11 T C 2: 35,792,688 (GRCm39) D385G possibly damaging Het
Zfp426 T C 9: 20,382,541 (GRCm39) T135A probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TCCTGAATCCCAATACAATCTCTCCTCTAAC -3'
(R):5'- GCTTCTGCTTCACAAGCATATGAGCAC -3'

Sequencing Primer
(F):5'- ggagtggtaaggggaggag -3'
(R):5'- ACGTGTGTCTGCCTCCAG -3'
Posted On 2013-04-24