Incidental Mutation 'R2006:Gp6'
ID 225551
Institutional Source Beutler Lab
Gene Symbol Gp6
Ensembl Gene ENSMUSG00000078810
Gene Name glycoprotein 6 platelet
Synonyms Gpvi, 9830166G18Rik
MMRRC Submission 040015-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2006 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 4366964-4400743 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4387988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 160 (K160N)
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: K160N

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104231
Gene: ENSMUSG00000078810
AA Change: K160N

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: K160N

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,204,275 (GRCm39) F333L probably benign Het
Abcc2 T A 19: 43,793,500 (GRCm39) F384Y probably damaging Het
Acr C T 15: 89,458,404 (GRCm39) P362S probably benign Het
Acss3 T C 10: 106,798,871 (GRCm39) D484G possibly damaging Het
Actrt1 A G X: 45,418,593 (GRCm39) T203A probably benign Het
Agtpbp1 A T 13: 59,648,135 (GRCm39) C562S probably benign Het
Ahnak A G 19: 8,984,439 (GRCm39) K1908E probably damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Apaf1 A T 10: 90,897,634 (GRCm39) I283N probably damaging Het
Bbx G A 16: 50,044,758 (GRCm39) T493M possibly damaging Het
Best2 C T 8: 85,739,818 (GRCm39) probably null Het
C4bp C A 1: 130,575,769 (GRCm39) E75* probably null Het
Calr3 A T 8: 73,188,695 (GRCm39) V144D probably damaging Het
Capn1 C T 19: 6,041,613 (GRCm39) G632D probably damaging Het
Catsper2 C A 2: 121,236,838 (GRCm39) E270* probably null Het
Ccdc110 A T 8: 46,396,349 (GRCm39) I747F probably damaging Het
Ccdc15 T A 9: 37,226,768 (GRCm39) D389V possibly damaging Het
Cd226 A G 18: 89,265,435 (GRCm39) I125V probably benign Het
Crb2 A T 2: 37,673,446 (GRCm39) D114V probably damaging Het
Crebbp TTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTG 16: 3,902,617 (GRCm39) probably benign Het
Crebrf T C 17: 26,961,857 (GRCm39) V318A possibly damaging Het
Dab1 T C 4: 104,462,522 (GRCm39) I32T probably damaging Het
Daw1 T C 1: 83,169,066 (GRCm39) V181A probably damaging Het
Dlg2 G A 7: 91,614,825 (GRCm39) E255K possibly damaging Het
Dnah10 T A 5: 124,906,651 (GRCm39) D4170E possibly damaging Het
Dnah12 A G 14: 26,536,416 (GRCm39) T2111A possibly damaging Het
Dock10 T C 1: 80,527,506 (GRCm39) Y1081C possibly damaging Het
Dscam T C 16: 96,621,112 (GRCm39) Y532C probably damaging Het
Fam83c T C 2: 155,672,223 (GRCm39) D404G probably benign Het
Fam83g A G 11: 61,593,801 (GRCm39) N445S possibly damaging Het
Ghr C T 15: 3,357,464 (GRCm39) C268Y probably damaging Het
Gm8444 T C 15: 81,727,775 (GRCm39) probably benign Het
Grm3 T C 5: 9,639,793 (GRCm39) Y84C possibly damaging Het
Gtf3c2 C A 5: 31,325,440 (GRCm39) G450C probably damaging Het
Icosl A T 10: 77,907,787 (GRCm39) M116L possibly damaging Het
Il31ra T G 13: 112,666,890 (GRCm39) Y396S probably damaging Het
Insig1 A G 5: 28,276,464 (GRCm39) N10S probably benign Het
Kcnh2 C A 5: 24,531,568 (GRCm39) G448C probably damaging Het
L1td1 C T 4: 98,621,726 (GRCm39) S96L possibly damaging Het
Mapre3 A T 5: 31,019,168 (GRCm39) N4I probably damaging Het
Mblac2 T A 13: 81,859,860 (GRCm39) D70E probably benign Het
Mki67 T A 7: 135,300,238 (GRCm39) K1599* probably null Het
Mpg A G 11: 32,181,840 (GRCm39) I283V probably benign Het
Mrtfb G T 16: 13,199,440 (GRCm39) E98* probably null Het
Mybpc1 C A 10: 88,381,921 (GRCm39) A576S probably damaging Het
Myo1h T G 5: 114,499,140 (GRCm39) V129G probably damaging Het
Nars1 A T 18: 64,638,099 (GRCm39) V285E probably damaging Het
Nbas T A 12: 13,464,742 (GRCm39) probably null Het
Neb T C 2: 52,089,456 (GRCm39) D5172G probably null Het
Npbwr1 T A 1: 5,986,570 (GRCm39) S315C probably damaging Het
Nyap1 T C 5: 137,733,953 (GRCm39) H360R possibly damaging Het
Nyx A G X: 13,352,974 (GRCm39) E276G probably damaging Het
Or10ag59 T A 2: 87,405,536 (GRCm39) M36K probably benign Het
Or1e1 G T 11: 73,245,518 (GRCm39) C313F probably benign Het
Or2l13b A G 16: 19,349,455 (GRCm39) Y72H probably benign Het
Or2w6 T C 13: 21,842,642 (GRCm39) T284A possibly damaging Het
Or4c1 A G 2: 89,133,160 (GRCm39) Y259H possibly damaging Het
Or4c118 A T 2: 88,975,241 (GRCm39) V42E probably benign Het
Or5v1b C T 17: 37,841,597 (GRCm39) S243F probably damaging Het
Or7e174 A T 9: 20,012,165 (GRCm39) M37L probably benign Het
Or7g16 G A 9: 18,726,801 (GRCm39) S263L probably benign Het
Or8g23 T A 9: 38,971,729 (GRCm39) T78S probably damaging Het
Paf1 C A 7: 28,095,193 (GRCm39) probably null Het
Pcsk5 T C 19: 17,455,280 (GRCm39) D1050G probably benign Het
Pgap1 A G 1: 54,590,220 (GRCm39) S73P possibly damaging Het
Phtf1 G A 3: 103,911,799 (GRCm39) probably null Het
Pik3c2b G T 1: 132,994,282 (GRCm39) R82L probably damaging Het
Pik3ca T C 3: 32,504,206 (GRCm39) L632P probably damaging Het
Plau G T 14: 20,888,760 (GRCm39) probably null Het
Pld4 A T 12: 112,734,923 (GRCm39) Q460L possibly damaging Het
Prdm2 T A 4: 142,858,447 (GRCm39) Q1614H possibly damaging Het
Ptprq C T 10: 107,502,407 (GRCm39) G837D probably damaging Het
Rad9b A G 5: 122,477,842 (GRCm39) V178A possibly damaging Het
Rfc1 G T 5: 65,468,397 (GRCm39) Y105* probably null Het
Sardh G A 2: 27,118,351 (GRCm39) R460C probably damaging Het
Scn5a C A 9: 119,365,546 (GRCm39) R367L probably damaging Het
Sdcbp A T 4: 6,386,536 (GRCm39) I137L probably benign Het
Shmt2 A G 10: 127,355,029 (GRCm39) V273A probably benign Het
Slc5a9 G T 4: 111,737,423 (GRCm39) P612H probably benign Het
Slitrk4 TTGT TT X: 63,314,294 (GRCm39) probably null Het
Slitrk4 TG T X: 63,314,295 (GRCm39) probably null Het
Spata1 A T 3: 146,199,438 (GRCm39) S9T probably benign Het
Syn3 T C 10: 85,909,097 (GRCm39) T328A probably benign Het
Tdrd6 A G 17: 43,939,546 (GRCm39) F501L probably damaging Het
Tekt5 T C 16: 10,213,070 (GRCm39) I72V probably benign Het
Ticrr T C 7: 79,343,821 (GRCm39) S1229P possibly damaging Het
Tlr6 T C 5: 65,110,748 (GRCm39) S720G probably damaging Het
Tmem156 T A 5: 65,237,294 (GRCm39) D87V probably damaging Het
Togaram1 T A 12: 65,065,914 (GRCm39) D1639E probably damaging Het
Ucn2 A G 9: 108,815,430 (GRCm39) K64R probably benign Het
Vmn2r57 T A 7: 41,098,001 (GRCm39) Y22F probably benign Het
Vwa1 T C 4: 155,855,307 (GRCm39) T269A probably benign Het
Washc5 A G 15: 59,213,004 (GRCm39) L892P possibly damaging Het
Wdr20 T C 12: 110,760,002 (GRCm39) V296A probably damaging Het
Xxylt1 A T 16: 30,869,586 (GRCm39) H171Q probably damaging Het
Yju2 C T 17: 56,271,543 (GRCm39) Q155* probably null Het
Zfp275 A G X: 72,396,841 (GRCm39) T118A possibly 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
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
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'- TGATTGGAGCCAGAGGATCTC -3'
(R):5'- GCCTGTTTCCTGTCTTTAATAGAG -3'

Sequencing Primer
(F):5'- AGGATCTCCTTGCCCACAC -3'
(R):5'- AATAGAGTTTTCTTTCTTCCCAGGTG -3'
Posted On 2014-08-25