Incidental Mutation 'IGL01071:Proc'
ID 53150
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Proc
Ensembl Gene ENSMUSG00000024386
Gene Name protein C
Synonyms inactivator of coagulation factors Va, VIII, PC
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01071
Quality Score
Status
Chromosome 18
Chromosomal Location 32256179-32272623 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32256770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 299 (D299G)
Ref Sequence ENSEMBL: ENSMUSP00000132226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171765]
AlphaFold P33587
Predicted Effect probably damaging
Transcript: ENSMUST00000171765
AA Change: D299G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132226
Gene: ENSMUSG00000024386
AA Change: D299G

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik A C 6: 65,930,137 (GRCm39) D124A probably damaging Het
Arhgef17 C A 7: 100,534,907 (GRCm39) V1137L probably damaging Het
Birc6 A G 17: 74,873,127 (GRCm39) D462G possibly damaging Het
Birc6 A T 17: 74,938,696 (GRCm39) N2701Y probably damaging Het
Cadps C T 14: 12,509,091 (GRCm38) probably null Het
Camk2a T C 18: 61,113,228 (GRCm39) probably null Het
Capn10 T A 1: 92,872,797 (GRCm39) W508R probably damaging Het
Cntn3 A T 6: 102,397,212 (GRCm39) probably null Het
Crisp4 A G 1: 18,207,231 (GRCm39) V19A probably benign Het
Depdc1b A T 13: 108,493,975 (GRCm39) Y121F probably benign Het
Dsg1b T A 18: 20,542,272 (GRCm39) S926R probably damaging Het
Eml6 A G 11: 29,800,816 (GRCm39) probably null Het
Gm26938 A C 5: 139,794,228 (GRCm39) V117G possibly damaging Het
Keg1 T A 19: 12,696,364 (GRCm39) Y183N probably damaging Het
Mpi A T 9: 57,457,875 (GRCm39) I109N probably damaging Het
Or12j3 C T 7: 139,953,098 (GRCm39) A142T probably benign Het
Or13a20 C T 7: 140,232,827 (GRCm39) H312Y possibly damaging Het
Or14a259 T C 7: 86,012,768 (GRCm39) K259R possibly damaging Het
Or4c112 A G 2: 88,853,519 (GRCm39) V276A probably benign Het
Pcdhb20 A G 18: 37,637,738 (GRCm39) E88G possibly damaging Het
Pde6b G A 5: 108,567,581 (GRCm39) W290* probably null Het
Phf20 T A 2: 156,136,008 (GRCm39) probably null Het
Pkd1l1 A T 11: 8,798,921 (GRCm39) H1830Q probably benign Het
Psmd14 A G 2: 61,630,407 (GRCm39) T306A probably benign Het
Rab32 G A 10: 10,433,591 (GRCm39) A81V probably damaging Het
Samd14 G A 11: 94,912,294 (GRCm39) probably benign Het
Sh3rf1 T A 8: 61,678,993 (GRCm39) C12S probably damaging Het
Sipa1l3 C T 7: 29,023,645 (GRCm39) V663M possibly damaging Het
Slc2a5 A G 4: 150,205,190 (GRCm39) probably benign Het
Tasor T A 14: 27,164,579 (GRCm39) probably null Het
Tbkbp1 T C 11: 97,040,388 (GRCm39) I9V probably damaging Het
Trip10 C A 17: 57,561,332 (GRCm39) R196S possibly damaging Het
Vav1 T C 17: 57,606,176 (GRCm39) Y267H probably benign Het
Wdr1 T C 5: 38,687,410 (GRCm39) K207R probably benign Het
Other mutations in Proc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Proc APN 18 32,256,566 (GRCm39) missense probably benign 0.05
IGL01287:Proc APN 18 32,256,873 (GRCm39) splice site probably benign
IGL01298:Proc APN 18 32,256,605 (GRCm39) missense probably benign 0.01
IGL01898:Proc APN 18 32,266,198 (GRCm39) critical splice donor site probably null
IGL01977:Proc APN 18 32,260,472 (GRCm39) missense probably benign 0.02
IGL02040:Proc APN 18 32,267,913 (GRCm39) missense probably benign 0.07
IGL02724:Proc APN 18 32,267,925 (GRCm39) missense probably damaging 1.00
IGL02852:Proc APN 18 32,258,208 (GRCm39) missense probably damaging 1.00
IGL02901:Proc APN 18 32,256,678 (GRCm39) missense possibly damaging 0.89
IGL03401:Proc APN 18 32,256,326 (GRCm39) missense possibly damaging 0.96
R0110:Proc UTSW 18 32,258,171 (GRCm39) missense probably benign 0.26
R0131:Proc UTSW 18 32,268,951 (GRCm39) missense probably benign 0.01
R0510:Proc UTSW 18 32,258,171 (GRCm39) missense probably benign 0.26
R0988:Proc UTSW 18 32,266,536 (GRCm39) missense probably benign
R1455:Proc UTSW 18 32,256,451 (GRCm39) missense probably damaging 1.00
R1463:Proc UTSW 18 32,266,491 (GRCm39) missense possibly damaging 0.69
R1546:Proc UTSW 18 32,260,463 (GRCm39) missense probably damaging 1.00
R1711:Proc UTSW 18 32,260,459 (GRCm39) missense probably benign 0.05
R3414:Proc UTSW 18 32,256,738 (GRCm39) missense probably benign 0.00
R3911:Proc UTSW 18 32,256,758 (GRCm39) missense probably damaging 1.00
R4276:Proc UTSW 18 32,268,967 (GRCm39) missense probably benign 0.00
R4598:Proc UTSW 18 32,256,512 (GRCm39) missense probably damaging 1.00
R4623:Proc UTSW 18 32,260,526 (GRCm39) missense probably benign 0.32
R4758:Proc UTSW 18 32,256,863 (GRCm39) missense probably damaging 0.97
R4941:Proc UTSW 18 32,258,166 (GRCm39) missense possibly damaging 0.60
R5917:Proc UTSW 18 32,260,513 (GRCm39) missense probably benign 0.07
R6349:Proc UTSW 18 32,266,486 (GRCm39) missense probably benign 0.00
R6636:Proc UTSW 18 32,256,813 (GRCm39) missense probably benign 0.00
R6735:Proc UTSW 18 32,256,701 (GRCm39) missense probably benign 0.01
R7110:Proc UTSW 18 32,266,441 (GRCm39) missense probably benign 0.30
R7310:Proc UTSW 18 32,268,952 (GRCm39) missense probably benign 0.03
R7409:Proc UTSW 18 32,260,513 (GRCm39) missense probably benign 0.03
R7597:Proc UTSW 18 32,256,689 (GRCm39) missense probably damaging 1.00
R7598:Proc UTSW 18 32,268,929 (GRCm39) missense probably benign 0.00
R7604:Proc UTSW 18 32,267,831 (GRCm39) splice site probably null
R7738:Proc UTSW 18 32,260,532 (GRCm39) nonsense probably null
R7921:Proc UTSW 18 32,256,470 (GRCm39) missense probably damaging 1.00
R8425:Proc UTSW 18 32,256,411 (GRCm39) missense probably damaging 1.00
R9074:Proc UTSW 18 32,268,950 (GRCm39) missense possibly damaging 0.67
R9382:Proc UTSW 18 32,256,336 (GRCm39) missense probably damaging 1.00
R9690:Proc UTSW 18 32,256,371 (GRCm39) missense probably damaging 1.00
X0021:Proc UTSW 18 32,256,560 (GRCm39) missense probably damaging 0.96
Z1176:Proc UTSW 18 32,268,032 (GRCm39) missense probably benign 0.03
Posted On 2013-06-21