Corin - SNV Details



 Gene Information 
Gene Name Corin
Old Gene Names for Corin Lrp4
Gene Description corin [Source:MGI Symbol;Acc:MGI:1349451]
MGI phenotype Homozygous null mice display hypertension that is enhanced by high-salt diet and pregnancy, increased body weight, and cardiac hypertrophy.
Uniprot Name
CCDS Name
Gene GO
membrane; catalytic activity; regulation of blood pressure; peptide hormone processing; integral to plasma membrane; protein binding; cell surface; serine-type exopeptidase activity; extracellular region; regulation of systemic arterial blood pressure by atrial natriuretic peptide; regulation of renal sodium excretion; proteolysis; neuron differentiation; serine-type endopeptidase activity; female pregnancy; scavenger receptor activity
Homolog in other species CORIN
Omim http://omim.org/entry/605236
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000005220
Chromosome 5
Coordinate 72,339,876     (Assembly: GRCm38)    
Ref Base T
Codon Change aAt/aGt
Var Base C
Zygosity Heterozygous
Read Depth 13
Allele Frequency
T:R0.54
C:V0.46
Amino Acid Position 569
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL01786
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.05
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved