Incidental Mutation 'R5639:Gp6'
ID 440539
Institutional Source Beutler Lab
Gene Symbol Gp6
Ensembl Gene ENSMUSG00000078810
Gene Name glycoprotein 6 platelet
Synonyms Gpvi, 9830166G18Rik
MMRRC Submission 043288-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5639 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 4366964-4400743 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 4397130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 102 (D102Y)
Ref Sequence ENSEMBL: ENSMUSP00000145740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108590] [ENSMUST00000206928]
AlphaFold P0C191
Predicted Effect probably damaging
Transcript: ENSMUST00000108590
AA Change: D102Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104231
Gene: ENSMUSG00000078810
AA Change: D102Y

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: ENSMUST00000178240
Predicted Effect probably damaging
Transcript: ENSMUST00000206928
AA Change: D102Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T C 8: 111,769,866 (GRCm39) Y322H probably benign Het
Aldh1a1 C A 19: 20,600,786 (GRCm39) T201K probably damaging Het
Ankrd26 T C 6: 118,516,685 (GRCm39) E493G possibly damaging Het
Armc8 A G 9: 99,378,202 (GRCm39) probably null Het
Bicc1 A T 10: 70,776,350 (GRCm39) V701E probably damaging Het
Car11 T A 7: 45,352,045 (GRCm39) probably null Het
Ccn1 A C 3: 145,354,452 (GRCm39) V153G probably damaging Het
Celsr1 C G 15: 85,914,968 (GRCm39) V1002L probably damaging Het
Clpx T A 9: 65,237,112 (GRCm39) S597T probably benign Het
Cplx3 A T 9: 57,519,149 (GRCm39) F266I probably benign Het
Dmpk A G 7: 18,826,525 (GRCm39) M545V probably benign Het
Dnah7c C G 1: 46,778,828 (GRCm39) D3139E probably benign Het
Drd5 T A 5: 38,477,178 (GRCm39) V57D possibly damaging Het
Epc2 A G 2: 49,341,903 (GRCm39) N29S possibly damaging Het
Ercc3 T C 18: 32,398,767 (GRCm39) V682A probably damaging Het
Fam186a T C 15: 99,844,931 (GRCm39) K438E unknown Het
Farp1 T A 14: 121,512,794 (GRCm39) I764N probably damaging Het
Flvcr2 A T 12: 85,794,250 (GRCm39) I209F probably benign Het
Fndc3b C T 3: 27,480,302 (GRCm39) V1065M probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gpc5 T C 14: 115,330,179 (GRCm39) L114P probably benign Het
Kcnq3 T A 15: 65,869,599 (GRCm39) E613V probably damaging Het
Krt74 T G 15: 101,665,195 (GRCm39) noncoding transcript Het
Lipe T C 7: 25,082,750 (GRCm39) T801A probably benign Het
Lrp1 A G 10: 127,429,708 (GRCm39) V454A probably damaging Het
Lsm14a T C 7: 34,052,935 (GRCm39) D338G probably damaging Het
Mctp1 T C 13: 77,172,902 (GRCm39) silent Het
Nlrp4a G A 7: 26,156,455 (GRCm39) A727T probably benign Het
Nrgn T C 9: 37,457,344 (GRCm39) S48G probably benign Het
Oga A G 19: 45,765,438 (GRCm39) I123T probably damaging Het
Or10k2 T C 8: 84,267,973 (GRCm39) S67P probably damaging Het
Or4a73 T C 2: 89,421,069 (GRCm39) Y130C probably damaging Het
Or51f23 A G 7: 102,453,200 (GRCm39) S172G probably benign Het
Pdia6 A G 12: 17,328,594 (GRCm39) E183G probably benign Het
Pign T A 1: 105,517,040 (GRCm39) I529F probably benign Het
Plscr5 A T 9: 92,087,564 (GRCm39) K178* probably null Het
Samm50 T G 15: 84,098,329 (GRCm39) I456S probably benign Het
Sesn1 A G 10: 41,687,267 (GRCm39) R84G probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Spag17 G T 3: 99,963,482 (GRCm39) D1067Y probably damaging Het
Sptan1 C T 2: 29,881,005 (GRCm39) Q425* probably null Het
Srrm4 T A 5: 116,729,418 (GRCm39) I36F unknown Het
Tas1r2 A T 4: 139,387,107 (GRCm39) S189C probably damaging Het
Tep1 A G 14: 51,091,062 (GRCm39) V690A possibly damaging Het
Trmo T C 4: 46,382,073 (GRCm39) K348R probably benign Het
Trmu T A 15: 85,766,899 (GRCm39) M36K probably damaging Het
Ubr4 A G 4: 139,179,959 (GRCm39) T3380A possibly damaging Het
Unc79 A C 12: 103,137,831 (GRCm39) T2425P probably damaging Het
Vmn2r12 G A 5: 109,240,666 (GRCm39) T149I probably benign Het
Vwa3a A C 7: 120,389,366 (GRCm39) K68T probably damaging Het
Yif1a T C 19: 5,138,778 (GRCm39) probably null Het
Zbtb44 A T 9: 30,965,348 (GRCm39) T253S probably damaging Het
Zdhhc3 T C 9: 122,929,410 (GRCm39) Y75C probably damaging Het
Zfp189 T A 4: 49,530,153 (GRCm39) F419I probably benign Het
Zfp663 T C 2: 165,194,929 (GRCm39) D430G probably benign Het
Zfp709 T G 8: 72,643,835 (GRCm39) probably null 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
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
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'- GTTTACAGGCATGAAATTCTCCAAG -3'
(R):5'- CAGTTATTCTGAGGTGCCAGG -3'

Sequencing Primer
(F):5'- GGCTGTTTTGAAGACACTAACCTC -3'
(R):5'- AGGGACCTCCAGATGTGG -3'
Posted On 2016-11-08