Incidental Mutation 'R4753:Procr'
ID 357718
Institutional Source Beutler Lab
Gene Symbol Procr
Ensembl Gene ENSMUSG00000027611
Gene Name protein C receptor, endothelial
Synonyms Ccca, EPCR
MMRRC Submission 041971-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R4753 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 155593037-155597391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155595384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 63 (N63D)
Ref Sequence ENSEMBL: ENSMUSP00000029140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029140] [ENSMUST00000132608]
AlphaFold Q64695
Predicted Effect probably damaging
Transcript: ENSMUST00000029140
AA Change: N63D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029140
Gene: ENSMUSG00000027611
AA Change: N63D

DomainStartEndE-ValueType
Pfam:MHC_I_3 1 201 1.4e-24 PFAM
transmembrane domain 212 234 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000132608
AA Change: N63D

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114567
Gene: ENSMUSG00000027611
AA Change: N63D

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PDB:3JTC|B 21 138 2e-36 PDB
SCOP:d1lqva_ 23 122 2e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155095
Meta Mutation Damage Score 0.2673 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [provided by RefSeq, Jul 2013]
PHENOTYPE: Nullizygous embryos die by E10.5 showing placental thrombosis, small size, and incomplete turning. Mice with a severe deficiency survive and reproduce normally. Homozygotes for the R84A variant show increased thrombin formation after thrombotic and LPS challenge, splenomegaly, and bone marrow failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd55 T A 13: 112,500,009 (GRCm39) D257E probably benign Het
Arhgef18 T C 8: 3,494,938 (GRCm39) V399A probably damaging Het
Atp8b5 C T 4: 43,372,710 (GRCm39) P1117S probably damaging Het
Cd48 A G 1: 171,527,156 (GRCm39) Q194R probably damaging Het
Cdk13 G A 13: 17,937,833 (GRCm39) R737C probably damaging Het
Clasrp A T 7: 19,328,865 (GRCm39) I89N probably damaging Het
Clrn1 G T 3: 58,792,318 (GRCm39) N48K probably damaging Het
Cntrl T A 2: 35,043,451 (GRCm39) V1313E possibly damaging Het
Cyld T A 8: 89,471,444 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dtl T C 1: 191,301,815 (GRCm39) T81A probably damaging Het
Dus1l C T 11: 120,682,901 (GRCm39) E299K probably benign Het
E130114P18Rik A T 4: 97,463,129 (GRCm39) D14E possibly damaging Het
Fam83g C A 11: 61,586,095 (GRCm39) H228N probably damaging Het
Fhod3 A T 18: 25,223,382 (GRCm39) K909N possibly damaging Het
Fign T A 2: 63,809,363 (GRCm39) I636L probably benign Het
Foxm1 A G 6: 128,349,519 (GRCm39) E346G probably null Het
Gcc2 T C 10: 58,126,204 (GRCm39) Y1271H probably benign Het
Gcn1 T C 5: 115,754,537 (GRCm39) V2379A probably benign Het
Grin2d G T 7: 45,483,330 (GRCm39) P949Q probably damaging Het
Ighv1-43 C A 12: 114,909,762 (GRCm39) M53I probably benign Het
Itgad A G 7: 127,822,875 (GRCm39) *97W probably null Het
Jade1 C T 3: 41,551,106 (GRCm39) R2* probably null Het
Lama3 G T 18: 12,615,141 (GRCm39) C1355F probably damaging Het
Map3k13 T C 16: 21,710,752 (GRCm39) S12P probably benign Het
Masp2 A G 4: 148,696,608 (GRCm39) T402A probably benign Het
Mill1 A C 7: 17,996,472 (GRCm39) K96T probably benign Het
Muc19 T G 15: 91,761,955 (GRCm39) noncoding transcript Het
Muc5b C A 7: 141,410,590 (GRCm39) T1321N unknown Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or1ad1 T C 11: 50,875,978 (GRCm39) V150A probably benign Het
Or1e35 T A 11: 73,797,677 (GRCm39) I214F probably damaging Het
Pdgfra C T 5: 75,342,185 (GRCm39) P669S probably damaging Het
Prrc2c A G 1: 162,518,799 (GRCm39) S2136P probably damaging Het
Rab11fip1 T C 8: 27,642,769 (GRCm39) M677V probably benign Het
Rad52 T A 6: 119,889,946 (GRCm39) probably benign Het
Rasa1 A G 13: 85,436,509 (GRCm39) probably null Het
Rogdi T C 16: 4,828,363 (GRCm39) T189A probably damaging Het
Rph3al G A 11: 75,799,845 (GRCm39) T38M probably damaging Het
Rps6ka2 T A 17: 7,566,707 (GRCm39) V655E possibly damaging Het
Sik3 T C 9: 46,109,512 (GRCm39) F499L probably damaging Het
Skint4 A G 4: 112,003,728 (GRCm39) N387S probably benign Het
Slc6a12 C T 6: 121,333,862 (GRCm39) probably benign Het
Stk36 A G 1: 74,665,255 (GRCm39) T667A probably benign Het
Svep1 T C 4: 58,053,212 (GRCm39) I3378V probably benign Het
Thnsl1 C T 2: 21,218,175 (GRCm39) T122I probably damaging Het
Timeless G A 10: 128,075,889 (GRCm39) probably benign Het
Tnxb G A 17: 34,914,909 (GRCm39) V1966I possibly damaging Het
Tril A G 6: 53,796,698 (GRCm39) F175L probably damaging Het
Vav1 A G 17: 57,613,140 (GRCm39) Y604C probably damaging Het
Zfp423 T A 8: 88,508,074 (GRCm39) M736L probably benign Het
Zscan10 A C 17: 23,826,208 (GRCm39) E123D probably damaging Het
Other mutations in Procr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02490:Procr APN 2 155,595,352 (GRCm39) missense probably damaging 0.98
R4704:Procr UTSW 2 155,596,258 (GRCm39) missense probably damaging 0.98
R5810:Procr UTSW 2 155,593,327 (GRCm39) missense possibly damaging 0.71
X0022:Procr UTSW 2 155,596,731 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAATGCCTTTTCCGATTGC -3'
(R):5'- TGCCACAAAGCCCCTTTAG -3'

Sequencing Primer
(F):5'- AGACCTCAGTTTCCTCATCTGTAAAG -3'
(R):5'- AGGCTCTTTCATCCTCCATGG -3'
Posted On 2015-11-11