Incidental Mutation 'IGL00693:Proc'
ID 13176
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 # IGL00693
Quality Score
Status
Chromosome 18
Chromosomal Location 32256179-32272623 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32256566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 367 (V367A)
Ref Sequence ENSEMBL: ENSMUSP00000132226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171765]
AlphaFold P33587
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
Aldh1a7 G A 19: 20,677,410 (GRCm39) P404S probably damaging Het
Bltp1 A G 3: 37,106,696 (GRCm39) probably benign Het
Ccng1 A G 11: 40,644,885 (GRCm39) V4A probably benign Het
Col4a3 T C 1: 82,675,475 (GRCm39) Y1176H unknown Het
Dyrk3 T C 1: 131,064,074 (GRCm39) I3V possibly damaging Het
Gpsm3 A G 17: 34,810,247 (GRCm39) E149G probably damaging Het
Hsd3b6 A C 3: 98,713,594 (GRCm39) L235R probably damaging Het
Ipo11 A T 13: 107,033,768 (GRCm39) F238Y probably damaging Het
Kcnh7 C T 2: 62,564,598 (GRCm39) R887K probably benign Het
Lrrc8a T C 2: 30,145,327 (GRCm39) V47A probably benign Het
Lsm14b A G 2: 179,674,419 (GRCm39) N241D probably damaging Het
Mtss1 T A 15: 58,815,973 (GRCm39) D529V probably damaging Het
Nup58 A T 14: 60,475,969 (GRCm39) S283T probably benign Het
Odad2 C T 18: 7,211,504 (GRCm39) G790D probably damaging Het
Pno1 A G 11: 17,161,317 (GRCm39) L64P probably benign Het
Pramel28 G T 4: 143,692,392 (GRCm39) P203Q possibly damaging Het
Sez6l A T 5: 112,569,879 (GRCm39) I964N probably damaging Het
Speer2 A T 16: 69,657,406 (GRCm39) M79K probably benign Het
Tef T C 15: 81,699,384 (GRCm39) S131P probably benign Het
Ubr2 T C 17: 47,283,907 (GRCm39) T581A probably benign Het
Unc13c A T 9: 73,665,884 (GRCm39) D1045E probably benign Het
Vsig8 T C 1: 172,389,156 (GRCm39) V136A probably damaging Het
Wee1 A T 7: 109,734,060 (GRCm39) probably null Het
Other mutations in Proc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Proc APN 18 32,256,770 (GRCm39) missense probably damaging 1.00
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 2012-12-06