Procr - SNV Details



 Gene Information 
Gene Name Procr
Old Gene Names for Procr Ai325044 , Ccca
Gene Description protein C receptor, endothelial [Source:MGI Symbol;Acc:MGI:104596]
MGI phenotype Homozygous null mutants exhibit placental thrombosis, small size, incomplete embryo turning, and lethality by embryonic day 10.5, whereas mice with a mutation that results in a severe deficiency of gene product are viable.
Uniprot Name
CCDS Name
Gene GO
membrane; integral to membrane; immune response; protein C-terminus binding; antigen processing and presentation; blood coagulation; protein binding; negative regulation of coagulation; centrosome
Homolog in other species PROCR
Omim http://omim.org/entry/600646
Immgen Expression
LOW/MEDIAN(HIGH IN MYELOID GOUP, DC8+.TH, DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027611
Chromosome 2
Coordinate 155,753,432     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 69
Allele Frequency
T:R0.41
C:V0.59
Amino Acid Change L->P (Leucine -> Proline)
Sample ID IGL02490
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 59 Other Mutations

 Predictions 
Polyphen Score 0.88
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved