Incidental Mutation 'IGL00833:Gp5'
ID11072
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 #IGL00833
Quality Score
Status
Chromosome16
Chromosomal Location30307685-30310779 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30309466 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 130 (D130G)
Ref Sequence ENSEMBL: ENSMUSP00000051895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061190] [ENSMUST00000061350] [ENSMUST00000100013]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061190
AA Change: D130G

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000051895
Gene: ENSMUSG00000047953
AA Change: D130G

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a1 A G 11: 61,217,180 E350G probably damaging Het
Apob T C 12: 8,010,101 V2861A probably benign Het
Bpifb9a C T 2: 154,264,275 Q358* probably null Het
Cbfa2t2 T A 2: 154,528,875 Y423N probably damaging Het
Cd209e A C 8: 3,852,800 M102R probably benign Het
Ddx42 T A 11: 106,231,178 V173D possibly damaging Het
Dnah11 A G 12: 118,179,580 F443L probably damaging Het
Exoc4 G A 6: 33,971,924 E901K probably damaging Het
H2-T3 T G 17: 36,187,041 S327R probably benign Het
Myo1e T C 9: 70,338,778 I417T probably damaging Het
Nasp A G 4: 116,602,736 V377A probably damaging Het
Nbn A G 4: 15,964,320 I132V probably benign Het
Nckap5 C A 1: 126,027,152 K622N probably damaging Het
Nlrp4e G A 7: 23,340,471 V740I probably benign Het
Polr3gl T G 3: 96,578,560 D130A probably damaging Het
Ptprc T C 1: 138,078,492 K784R possibly damaging Het
Sycp1 A G 3: 102,876,301 probably null Het
Tg C T 15: 66,688,801 T1004I probably benign Het
Tmco5b T A 2: 113,296,849 I255N probably damaging Het
Ubr4 G A 4: 139,393,159 probably null Het
Zeb1 A G 18: 5,767,774 T762A probably benign Het
Zfp345 T C 2: 150,472,729 E296G probably damaging Het
Other mutations in Gp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Gp5 APN 16 30308822 missense probably benign 0.01
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 On2012-12-06