Incidental Mutation 'R0510:Proc'
ID 47857
Institutional Source Beutler Lab
Gene Symbol Proc
Ensembl Gene ENSMUSG00000024386
Gene Name protein C
Synonyms inactivator of coagulation factors Va, VIII, PC
MMRRC Submission 038704-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0510 (G1)
Quality Score 168
Status Validated
Chromosome 18
Chromosomal Location 32256179-32272623 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32258171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 258 (T258I)
Ref Sequence ENSEMBL: ENSMUSP00000132226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171765]
AlphaFold P33587
Predicted Effect probably benign
Transcript: ENSMUST00000171765
AA Change: T258I

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000132226
Gene: ENSMUSG00000024386
AA Change: T258I

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.2%
Validation Efficiency 99% (102/103)
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,125,482 (GRCm39) I67T probably damaging Het
Acoxl G A 2: 127,722,423 (GRCm39) probably null Het
Adam10 T A 9: 70,655,530 (GRCm39) W333R probably damaging Het
Ahnak C T 19: 8,995,596 (GRCm39) R5627* probably null Het
Alms1 A T 6: 85,597,351 (GRCm39) R1195* probably null Het
Ap2m1 T A 16: 20,360,990 (GRCm39) I334N possibly damaging Het
Brd8dc A T 18: 34,729,204 (GRCm39) D42E probably damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Ccdc110 T A 8: 46,388,194 (GRCm39) N50K probably benign Het
Ccdc168 T A 1: 44,100,257 (GRCm39) K280N possibly damaging Het
Cdhr1 T C 14: 36,802,633 (GRCm39) Y610C probably damaging Het
Cdkal1 C A 13: 29,875,579 (GRCm39) probably null Het
Celsr3 G A 9: 108,704,204 (GRCm39) C229Y possibly damaging Het
Clca4b A T 3: 144,619,112 (GRCm39) Y676N probably damaging Het
Col11a1 A T 3: 113,899,105 (GRCm39) probably benign Het
Cpe T A 8: 65,064,501 (GRCm39) I233F probably damaging Het
Cpsf1 A T 15: 76,487,857 (GRCm39) probably benign Het
Cpsf2 T C 12: 101,955,045 (GRCm39) V272A probably damaging Het
Creld2 A T 15: 88,704,159 (GRCm39) N50I probably damaging Het
Cyb5r1 T C 1: 134,337,430 (GRCm39) probably benign Het
Dcaf11 T C 14: 55,806,537 (GRCm39) V446A probably damaging Het
Defa34 A G 8: 22,155,988 (GRCm39) probably null Het
Dgat1 T C 15: 76,395,767 (GRCm39) Y72C possibly damaging Het
Efr3b G T 12: 4,032,058 (GRCm39) D183E probably benign Het
Enpp3 A T 10: 24,652,679 (GRCm39) D759E probably damaging Het
Epyc A G 10: 97,485,625 (GRCm39) T22A probably benign Het
Etfbkmt C T 6: 149,052,082 (GRCm39) R96W probably benign Het
Fam83b G T 9: 76,400,108 (GRCm39) L332I possibly damaging Het
Fat3 C A 9: 15,910,981 (GRCm39) E1674* probably null Het
Fbn1 A G 2: 125,184,845 (GRCm39) probably benign Het
Gm5134 C A 10: 75,810,079 (GRCm39) T120N probably benign Het
Gmip C T 8: 70,268,259 (GRCm39) probably benign Het
Gpbp1 G T 13: 111,577,279 (GRCm39) Q204K possibly damaging Het
Gpr108 T C 17: 57,542,358 (GRCm39) D549G possibly damaging Het
Gsdme C A 6: 50,223,107 (GRCm39) probably benign Het
Gucy2e T C 11: 69,126,402 (GRCm39) D326G probably benign Het
H2-Eb2 C T 17: 34,553,218 (GRCm39) Q135* probably null Het
Hectd4 T A 5: 121,419,959 (GRCm39) Y635N possibly damaging Het
Hectd4 G A 5: 121,443,736 (GRCm39) E1319K possibly damaging Het
Hs3st2 T C 7: 121,099,792 (GRCm39) S213P probably damaging Het
Ikbkb A T 8: 23,161,651 (GRCm39) C412* probably null Het
Itpr2 T C 6: 146,319,477 (GRCm39) T188A possibly damaging Het
Kcnh1 T A 1: 192,101,249 (GRCm39) probably benign Het
Kctd21 T C 7: 96,996,748 (GRCm39) F74L probably damaging Het
Krt23 T A 11: 99,377,608 (GRCm39) I133L probably damaging Het
Krt74 T C 15: 101,671,751 (GRCm39) noncoding transcript Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lmtk3 T A 7: 45,443,536 (GRCm39) L740M possibly damaging Het
Lrrc10 T A 10: 116,881,695 (GRCm39) L123Q probably damaging Het
Map1a A T 2: 121,136,255 (GRCm39) H2357L probably benign Het
Mbl1 A G 14: 40,880,706 (GRCm39) N198S probably damaging Het
Mcf2l A G 8: 13,047,337 (GRCm39) D233G probably damaging Het
Msto1 A G 3: 88,818,848 (GRCm39) L269P probably benign Het
Mtss1 A T 15: 58,828,387 (GRCm39) D175E probably benign Het
Myef2 A T 2: 124,950,954 (GRCm39) probably benign Het
Neb A T 2: 52,180,755 (GRCm39) probably benign Het
Or14a259 T C 7: 86,013,035 (GRCm39) N170S probably benign Het
Or4a39 A T 2: 89,237,135 (GRCm39) M96K probably damaging Het
Or5w15 A G 2: 87,567,825 (GRCm39) V281A probably damaging Het
Parp2 T A 14: 51,057,130 (GRCm39) Y361N probably damaging Het
Parp3 A G 9: 106,348,995 (GRCm39) F466L possibly damaging Het
Pcdh15 A T 10: 74,126,808 (GRCm39) N296Y probably damaging Het
Pdzrn3 A T 6: 101,128,014 (GRCm39) I884N probably damaging Het
Pim1 T C 17: 29,712,883 (GRCm39) probably benign Het
Pou6f2 A G 13: 18,314,308 (GRCm39) probably benign Het
Prelid3b A G 2: 174,307,743 (GRCm39) probably benign Het
Rab3gap2 T C 1: 184,992,705 (GRCm39) probably benign Het
Rb1cc1 A C 1: 6,319,395 (GRCm39) K938T probably benign Het
Rem2 T C 14: 54,713,754 (GRCm39) probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rin2 A G 2: 145,702,953 (GRCm39) K550E probably benign Het
Rps6ka4 G T 19: 6,817,866 (GRCm39) T17N probably benign Het
Rtn4 T A 11: 29,683,849 (GRCm39) probably benign Het
Ruvbl2 C T 7: 45,080,730 (GRCm39) probably benign Het
Scaper A G 9: 55,665,346 (GRCm39) probably benign Het
Sdc2 T C 15: 33,017,235 (GRCm39) probably benign Het
Semp2l1 T A 1: 32,584,956 (GRCm39) N318I possibly damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slco2b1 T A 7: 99,310,743 (GRCm39) M603L probably benign Het
Smpdl3b A G 4: 132,472,449 (GRCm39) V108A probably damaging Het
Sptbn4 C T 7: 27,060,991 (GRCm39) probably null Het
Srrm1 G A 4: 135,065,854 (GRCm39) probably benign Het
Ssh1 A T 5: 114,084,766 (GRCm39) D448E probably benign Het
Ssmem1 A T 6: 30,519,547 (GRCm39) probably null Het
Sv2b T G 7: 74,786,140 (GRCm39) M427L probably benign Het
Syne1 A G 10: 5,317,600 (GRCm39) L498P probably damaging Het
Syne2 T C 12: 75,900,923 (GRCm39) probably null Het
Taf6l G T 19: 8,755,885 (GRCm39) H254Q probably benign Het
Traf3ip3 T A 1: 192,860,539 (GRCm39) probably null Het
Trpm1 G A 7: 63,873,506 (GRCm39) G587D probably damaging Het
Ttn A G 2: 76,560,756 (GRCm39) V29215A probably damaging Het
Ubr4 T G 4: 139,157,534 (GRCm39) S2364A probably benign Het
Ush2a T A 1: 188,466,860 (GRCm39) probably benign Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r57 A T 7: 41,077,216 (GRCm39) S317T possibly damaging Het
Vwa2 A G 19: 56,886,500 (GRCm39) probably benign Het
Wdr73 G A 7: 80,547,698 (GRCm39) Q107* probably null Het
Zbtb10 T A 3: 9,329,728 (GRCm39) V362E probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp296 A T 7: 19,311,831 (GRCm39) M113L probably benign Het
Zfp729b A T 13: 67,739,253 (GRCm39) V1004E probably benign Het
Other mutations in Proc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Proc APN 18 32,256,566 (GRCm39) missense probably benign 0.05
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
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
Predicted Primers PCR Primer
(F):5'- AGTGAGGAGACCCCTGCTCAATAAC -3'
(R):5'- TGTGTGCCACTGGGATCAAGAAC -3'

Sequencing Primer
(F):5'- CCCTGCTCAATAACAGATATGTGG -3'
(R):5'- CACTGGGATCAAGAACCCAGG -3'
Posted On 2013-06-12