Incidental Mutation 'IGL00338:Gp5'
ID332329
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gp5
Ensembl Gene ENSMUSG00000047953
Gene Nameglycoprotein 5 (platelet)
SynonymsGP V, GPV
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00338
Quality Score
Status
Chromosome16
Chromosomal Location30307685-30310779 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 30308822 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 345 (A345S)
Ref Sequence ENSEMBL: ENSMUSP00000051895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061190] [ENSMUST00000061350] [ENSMUST00000100013]
Predicted Effect probably benign
Transcript: ENSMUST00000061190
AA Change: A345S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000051895
Gene: ENSMUSG00000047953
AA Change: A345S

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Blast:LRRNT 20 54 3e-17 BLAST
LRR 73 96 2.14e0 SMART
LRR_TYP 97 120 3.11e-2 SMART
LRR_TYP 121 144 8.81e-2 SMART
LRR_TYP 145 168 1.28e-3 SMART
LRR_TYP 169 192 1.38e-3 SMART
LRR 194 216 2.14e1 SMART
LRR_TYP 217 240 1.12e-3 SMART
LRR_TYP 241 264 2.95e-3 SMART
LRR 265 288 3.76e1 SMART
LRR_TYP 289 312 3.83e-2 SMART
LRR 313 337 2.29e0 SMART
LRR_TYP 338 361 8.22e-2 SMART
LRR_TYP 362 385 9.08e-4 SMART
LRR_TYP 386 409 2.75e-3 SMART
LRRCT 421 473 8.98e-4 SMART
transmembrane domain 519 541 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000061350
SMART Domains Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533

DomainStartEndE-ValueType
Pfam:P5-ATPase 13 139 4.9e-30 PFAM
Cation_ATPase_N 154 227 7.24e0 SMART
Pfam:E1-E2_ATPase 232 483 5.1e-36 PFAM
Pfam:HAD 491 888 7.5e-28 PFAM
Pfam:Hydrolase_like2 607 661 6.8e-8 PFAM
Pfam:Hydrolase 612 790 6.5e-11 PFAM
transmembrane domain 931 953 N/A INTRINSIC
transmembrane domain 963 985 N/A INTRINSIC
transmembrane domain 997 1019 N/A INTRINSIC
transmembrane domain 1068 1085 N/A INTRINSIC
transmembrane domain 1098 1120 N/A INTRINSIC
transmembrane domain 1135 1153 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100013
SMART Domains Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533

DomainStartEndE-ValueType
Pfam:P5-ATPase 13 146 2.9e-38 PFAM
Cation_ATPase_N 154 227 7.24e0 SMART
Pfam:E1-E2_ATPase 232 483 7.3e-41 PFAM
Pfam:Hydrolase 488 784 1.3e-12 PFAM
Pfam:HAD 491 888 1.3e-31 PFAM
Pfam:Cation_ATPase 612 660 4.5e-7 PFAM
transmembrane domain 931 953 N/A INTRINSIC
transmembrane domain 963 985 N/A INTRINSIC
transmembrane domain 997 1019 N/A INTRINSIC
transmembrane domain 1068 1085 N/A INTRINSIC
transmembrane domain 1098 1120 N/A INTRINSIC
transmembrane domain 1135 1157 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for von Willebrand factor (VWF; MIM 613160) and mediate the adhesion of platelets to injured vascular surfaces in the arterial circulation, a critical initiating event in hemostasis. The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX (GP9; MIM 173515) and GP5. Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder (review by Lopez et al., 1998 [PubMed 9616133]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Homozygotes for one null allele develop normally with no spontaneous bleeding while their platelets show normal thrombin responsiveness and lack a Bernard-Soulier phenotype. In contrast, homozygotes for a second null allele show a shorter bleeding time and platelet hyperresponsiveness to thrombin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd11 A G 5: 135,011,985 D217G probably benign Het
Ankar T A 1: 72,690,131 Y285F probably damaging Het
Ano8 C A 8: 71,484,258 probably benign Het
Bche A G 3: 73,701,307 V262A probably benign Het
Car13 T C 3: 14,656,904 probably benign Het
Cd244 T A 1: 171,574,370 probably null Het
Cfap157 T C 2: 32,781,383 D137G probably damaging Het
Cobl T C 11: 12,375,813 R119G possibly damaging Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gp2 A G 7: 119,454,390 M116T probably damaging Het
Gphn A T 12: 78,504,632 I285F probably damaging Het
Heatr5b A G 17: 78,803,434 V995A probably damaging Het
Hecw2 T C 1: 53,827,881 probably benign Het
Hydin C A 8: 110,569,802 N3654K possibly damaging Het
Inpp5b A G 4: 124,784,375 Y440C possibly damaging Het
Olfr1256 A T 2: 89,835,458 Y162* probably null Het
Pphln1 A G 15: 93,465,210 K306E probably damaging Het
Rnf26 A C 9: 44,112,859 S31A probably benign Het
Ros1 A T 10: 52,125,811 S1072T probably benign Het
Skiv2l A G 17: 34,846,667 W304R probably damaging Het
Slc22a14 A G 9: 119,178,513 F277L possibly damaging Het
Slc22a26 A T 19: 7,782,975 L468I probably benign Het
Tchh C T 3: 93,447,644 L1464F unknown Het
Tmem260 C T 14: 48,477,636 T249M probably damaging Het
Ttn A G 2: 76,974,065 S288P probably damaging Het
Usp17lc A G 7: 103,418,941 H481R possibly damaging Het
Vps50 C T 6: 3,602,670 T929M probably benign Het
Zdhhc8 A G 16: 18,225,196 L380P possibly damaging Het
Other mutations in Gp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Gp5 APN 16 30309466 missense possibly damaging 0.89
IGL01284:Gp5 APN 16 30309210 missense probably benign 0.00
IGL01739:Gp5 APN 16 30308641 missense possibly damaging 0.82
IGL02009:Gp5 APN 16 30309664 missense probably benign 0.00
IGL02339:Gp5 APN 16 30309190 missense probably damaging 1.00
IGL03120:Gp5 APN 16 30308198 missense possibly damaging 0.49
R0677:Gp5 UTSW 16 30308375 missense probably benign 0.08
R4944:Gp5 UTSW 16 30309508 missense possibly damaging 0.91
R7365:Gp5 UTSW 16 30308608 missense probably damaging 1.00
Posted On2015-08-05