Incidental Mutation 'IGL00693:Proc'
ID13176
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Proc
Ensembl Gene ENSMUSG00000024386
Gene Nameprotein C
SynonymsPC, inactivator of coagulation factors Va, VIII
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00693
Quality Score
Status
Chromosome18
Chromosomal Location32123129-32139570 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32123513 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 367 (V367A)
Ref Sequence ENSEMBL: ENSMUSP00000132226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171765]
Predicted Effect probably benign
Transcript: ENSMUST00000171765
AA Change: V367A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000132226
Gene: ENSMUSG00000024386
AA Change: V367A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
GLA 24 86 6.66e-30 SMART
EGF_CA 87 131 1.25e-6 SMART
EGF 138 175 3.62e-3 SMART
low complexity region 201 210 N/A INTRINSIC
Tryp_SPc 211 444 2.6e-82 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the vitamin K-dependent protein C, which plays a vital role in the anticoagulation pathway. The encoded protein undergoes proteolytic processing including activation by thrombin-thrombomodulin complex to form the anticoagulant serine protease that degrades activated coagulation factors. A complete lack of the encoded protein in mice results in severe perinatal consumptive coagulopathy in the brain and liver, resulting in death within 24 hours after birth. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate the mature protein. [provided by RefSeq, Sep 2015]
PHENOTYPE: Inactivation of the locus results in death within 24 hours of birth due to consumptive coagulopathy. Thromboses and bleeding are observed in the brains and livers of homozygous mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,052,547 probably benign Het
Aldh1a7 G A 19: 20,700,046 P404S probably damaging Het
Armc4 C T 18: 7,211,504 G790D probably damaging Het
Ccng1 A G 11: 40,754,058 V4A probably benign Het
Col4a3 T C 1: 82,697,754 Y1176H unknown Het
Dyrk3 T C 1: 131,136,337 I3V possibly damaging Het
Gm13101 G T 4: 143,965,822 P203Q possibly damaging Het
Gpsm3 A G 17: 34,591,273 E149G probably damaging Het
Hsd3b6 A C 3: 98,806,278 L235R probably damaging Het
Ipo11 A T 13: 106,897,260 F238Y probably damaging Het
Kcnh7 C T 2: 62,734,254 R887K probably benign Het
Lrrc8a T C 2: 30,255,315 V47A probably benign Het
Lsm14b A G 2: 180,032,626 N241D probably damaging Het
Mtss1 T A 15: 58,944,124 D529V probably damaging Het
Nupl1 A T 14: 60,238,520 S283T probably benign Het
Pno1 A G 11: 17,211,317 L64P probably benign Het
Sez6l A T 5: 112,422,013 I964N probably damaging Het
Speer2 A T 16: 69,860,518 M79K probably benign Het
Tef T C 15: 81,815,183 S131P probably benign Het
Ubr2 T C 17: 46,972,981 T581A probably benign Het
Unc13c A T 9: 73,758,602 D1045E probably benign Het
Vsig8 T C 1: 172,561,589 V136A probably damaging Het
Wee1 A T 7: 110,134,853 probably null Het
Other mutations in Proc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Proc APN 18 32123717 missense probably damaging 1.00
IGL01287:Proc APN 18 32123820 splice site probably benign
IGL01298:Proc APN 18 32123552 missense probably benign 0.01
IGL01898:Proc APN 18 32133145 critical splice donor site probably null
IGL01977:Proc APN 18 32127419 missense probably benign 0.02
IGL02040:Proc APN 18 32134860 missense probably benign 0.07
IGL02724:Proc APN 18 32134872 missense probably damaging 1.00
IGL02852:Proc APN 18 32125155 missense probably damaging 1.00
IGL02901:Proc APN 18 32123625 missense possibly damaging 0.89
IGL03401:Proc APN 18 32123273 missense possibly damaging 0.96
R0110:Proc UTSW 18 32125118 missense probably benign 0.26
R0131:Proc UTSW 18 32135898 missense probably benign 0.01
R0510:Proc UTSW 18 32125118 missense probably benign 0.26
R0988:Proc UTSW 18 32133483 missense probably benign
R1455:Proc UTSW 18 32123398 missense probably damaging 1.00
R1463:Proc UTSW 18 32133438 missense possibly damaging 0.69
R1546:Proc UTSW 18 32127410 missense probably damaging 1.00
R1711:Proc UTSW 18 32127406 missense probably benign 0.05
R3414:Proc UTSW 18 32123685 missense probably benign 0.00
R3911:Proc UTSW 18 32123705 missense probably damaging 1.00
R4276:Proc UTSW 18 32135914 missense probably benign 0.00
R4598:Proc UTSW 18 32123459 missense probably damaging 1.00
R4623:Proc UTSW 18 32127473 missense probably benign 0.32
R4758:Proc UTSW 18 32123810 missense probably damaging 0.97
R4941:Proc UTSW 18 32125113 missense possibly damaging 0.60
R5917:Proc UTSW 18 32127460 missense probably benign 0.07
R6349:Proc UTSW 18 32133433 missense probably benign 0.00
R6636:Proc UTSW 18 32123760 missense probably benign 0.00
R6735:Proc UTSW 18 32123648 missense probably benign 0.01
R7110:Proc UTSW 18 32133388 missense probably benign 0.30
R7310:Proc UTSW 18 32135899 missense probably benign 0.03
R7409:Proc UTSW 18 32127460 missense probably benign 0.03
R7597:Proc UTSW 18 32123636 missense probably damaging 1.00
R7598:Proc UTSW 18 32135876 missense probably benign 0.00
X0021:Proc UTSW 18 32123507 missense probably damaging 0.96
Posted On2012-12-06