Incidental Mutation 'IGL02490:Procr'
ID 295582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Procr
Ensembl Gene ENSMUSG00000027611
Gene Name protein C receptor, endothelial
Synonyms Ccca, EPCR
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL02490
Quality Score
Status
Chromosome 2
Chromosomal Location 155593037-155597391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155595352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 52 (L52P)
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: L52P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029140
Gene: ENSMUSG00000027611
AA Change: L52P

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: L52P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114567
Gene: ENSMUSG00000027611
AA Change: L52P

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
Coding Region Coverage
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D06Rik A G 6: 89,078,559 (GRCm39) noncoding transcript Het
Adam5 A T 8: 25,271,720 (GRCm39) Y562* probably null Het
Akr1d1 T C 6: 37,535,423 (GRCm39) V269A probably damaging Het
Anks4b A G 7: 119,773,241 (GRCm39) T34A probably damaging Het
Arhgef40 A G 14: 52,226,652 (GRCm39) N232S probably damaging Het
Cdc40 C T 10: 40,717,767 (GRCm39) V379I probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh13 A G 8: 119,822,062 (GRCm39) D307G probably damaging Het
Ces1h A G 8: 94,083,627 (GRCm39) probably null Het
Chchd6 T A 6: 89,361,656 (GRCm39) H249L possibly damaging Het
Clxn T A 16: 14,734,810 (GRCm39) V60E probably benign Het
Cul1 T C 6: 47,491,820 (GRCm39) V392A probably damaging Het
Cwc15 A T 9: 14,413,320 (GRCm39) D34V probably damaging Het
Cyp2c39 T C 19: 39,527,446 (GRCm39) I264T probably damaging Het
Dapk1 A G 13: 60,897,148 (GRCm39) D789G probably damaging Het
Dcdc2a T A 13: 25,291,635 (GRCm39) Y207N probably damaging Het
Flt3 T A 5: 147,268,106 (GRCm39) N960Y probably damaging Het
Fmn1 C T 2: 113,359,817 (GRCm39) probably benign Het
Foxm1 T A 6: 128,350,314 (GRCm39) C400* probably null Het
Ftmt A C 18: 52,464,760 (GRCm39) R25S probably benign Het
Guca1b T C 17: 47,700,190 (GRCm39) probably benign Het
Hectd4 A T 5: 121,456,676 (GRCm39) K680N possibly damaging Het
Hephl1 C A 9: 14,964,981 (GRCm39) R1138L probably benign Het
Il1rl2 T A 1: 40,395,972 (GRCm39) probably benign Het
Ints2 A T 11: 86,124,009 (GRCm39) I593K possibly damaging Het
Iqcg T A 16: 32,855,937 (GRCm39) K213* probably null Het
Kif1b T A 4: 149,288,665 (GRCm39) S1259C probably benign Het
Klc1 C T 12: 111,748,210 (GRCm39) T371M possibly damaging Het
Loxl4 T C 19: 42,593,269 (GRCm39) T301A probably benign Het
Lrrc40 T C 3: 157,768,336 (GRCm39) L497P probably damaging Het
Masp2 C T 4: 148,692,400 (GRCm39) R298W possibly damaging Het
Myo5a A T 9: 75,043,737 (GRCm39) Y242F probably damaging Het
Nup98 A G 7: 101,801,573 (GRCm39) V784A probably damaging Het
Or5w15 T C 2: 87,568,299 (GRCm39) Y123C probably damaging Het
Osbpl1a G T 18: 13,015,341 (GRCm39) probably benign Het
Pcdh10 A G 3: 45,334,922 (GRCm39) Y412C probably damaging Het
Pfkfb2 T A 1: 130,628,589 (GRCm39) Y339F probably damaging Het
Plcb2 T C 2: 118,550,241 (GRCm39) N172D probably damaging Het
Plec T C 15: 76,073,463 (GRCm39) Y517C probably damaging Het
Plod2 G T 9: 92,468,895 (GRCm39) A207S probably benign Het
Plxdc1 A T 11: 97,845,604 (GRCm39) D229E probably benign Het
Ppp3cb A G 14: 20,581,726 (GRCm39) probably null Het
Psme2b G T 11: 48,836,946 (GRCm39) probably benign Het
Rgs22 G A 15: 36,054,993 (GRCm39) A727V probably damaging Het
Rock2 T A 12: 16,998,564 (GRCm39) W277R probably damaging Het
Rpl26 A G 11: 68,795,216 (GRCm39) D112G probably damaging Het
Rxfp1 C A 3: 79,559,474 (GRCm39) probably null Het
Sdr39u1 G A 14: 56,135,798 (GRCm39) P98L probably damaging Het
Sgms1 T C 19: 32,137,543 (GRCm39) K8E probably damaging Het
Stk31 T C 6: 49,394,469 (GRCm39) V277A probably benign Het
Trav15-1-dv6-1 A C 14: 53,797,588 (GRCm39) E79A probably benign Het
Ttll6 A T 11: 96,047,546 (GRCm39) D715V possibly damaging Het
Ush2a T C 1: 188,542,561 (GRCm39) S3376P probably damaging Het
Vmn2r109 T A 17: 20,761,246 (GRCm39) T704S possibly damaging Het
Zfp27 T A 7: 29,594,360 (GRCm39) H535L possibly damaging Het
Zfp609 A T 9: 65,611,250 (GRCm39) V571D possibly damaging Het
Zfp874a A T 13: 67,590,819 (GRCm39) Y288* probably null Het
Zfp993 T C 4: 146,742,074 (GRCm39) S133P probably damaging Het
Other mutations in Procr
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4704:Procr UTSW 2 155,596,258 (GRCm39) missense probably damaging 0.98
R4753:Procr UTSW 2 155,595,384 (GRCm39) missense probably damaging 0.99
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
Posted On 2015-04-16