Incidental Mutation 'IGL03401:Proc'
ID421431
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 #IGL03401
Quality Score
Status
Chromosome18
Chromosomal Location32123129-32139570 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 32123273 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 447 (Y447C)
Ref Sequence ENSEMBL: ENSMUSP00000132226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171765]
Predicted Effect possibly damaging
Transcript: ENSMUST00000171765
AA Change: Y447C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132226
Gene: ENSMUSG00000024386
AA Change: Y447C

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,662,266 R581* probably null Het
6430573F11Rik A C 8: 36,505,669 D91A probably damaging Het
Actn1 A T 12: 80,168,967 L799* probably null Het
Adam12 A T 7: 133,916,463 N327K probably damaging Het
Adamts9 A G 6: 92,786,868 V1314A probably damaging Het
Agbl4 G T 4: 111,119,019 R191L probably damaging Het
Ano6 T C 15: 95,949,905 I611T probably damaging Het
Arhgef26 T A 3: 62,423,532 S556T possibly damaging Het
AW209491 A G 13: 14,637,456 D298G probably benign Het
Cc2d1a A G 8: 84,134,629 M763T probably benign Het
Cep290 A G 10: 100,500,265 D388G probably benign Het
Cept1 T C 3: 106,533,390 E151G probably damaging Het
Chat T C 14: 32,452,569 K139E probably damaging Het
Edc4 T A 8: 105,887,514 Y7* probably null Het
Enpep T A 3: 129,312,620 Q319L probably benign Het
F13a1 A G 13: 36,898,080 I550T probably benign Het
Fbxw19 A G 9: 109,494,970 probably null Het
Frem3 T G 8: 80,614,541 D1154E probably damaging Het
Frmpd1 G T 4: 45,284,383 C1068F probably benign Het
Fsip2 C A 2: 82,990,470 P5516T probably benign Het
Hyou1 G A 9: 44,384,909 A429T probably damaging Het
Lrp1b C T 2: 41,110,778 E2145K probably benign Het
Map1b A T 13: 99,427,268 V2397D unknown Het
Mcm3ap T C 10: 76,484,649 probably benign Het
Mgst2 T G 3: 51,664,512 S20R possibly damaging Het
Nr4a3 T A 4: 48,070,987 probably null Het
Nup93 T A 8: 94,309,711 probably null Het
Olfr397 T C 11: 73,965,562 probably benign Het
Papola A T 12: 105,829,122 T611S probably benign Het
Pik3ca C A 3: 32,437,814 probably null Het
Pklr T C 3: 89,142,729 V337A probably benign Het
Prl7b1 A G 13: 27,601,981 Y235H probably benign Het
Pum1 T C 4: 130,743,681 probably benign Het
Rimklb A T 6: 122,464,118 I32N probably damaging Het
Rrm1 T A 7: 102,465,744 D644E possibly damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Shbg A G 11: 69,615,099 S361P probably damaging Het
Zfp647 T A 15: 76,911,368 H364L probably damaging Het
Zfp715 A T 7: 43,299,736 S267T probably benign Het
Other mutations in Proc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Proc APN 18 32123513 missense probably benign 0.05
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
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
R7604:Proc UTSW 18 32134778 intron probably null
R7738:Proc UTSW 18 32127479 nonsense probably null
X0021:Proc UTSW 18 32123507 missense probably damaging 0.96
Z1176:Proc UTSW 18 32134979 missense probably benign 0.03
Posted On2016-08-02