Dsg2 - SNV Details



 Human Rare Diseases 
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated dilated cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form

 Gene Information 
Gene Name Dsg2
Old Gene Names for Dsg2 Aa408168 , D18ertd293e
Gene Description desmoglein 2 [Source:MGI Symbol;Acc:MGI:1196466]
MGI phenotype Homozygous mutation of this gene results in embryonic lethality before somite formation, impaired cell proliferation, and increased apoptosis. Heterozygous mutation of this gene also results in embryonic lethality before somite formation with partial penetrance.
Uniprot Name
CCDS Name
Gene GO
membrane; integral to membrane; apoptotic process; cell adhesion; homophilic cell adhesion; regulation of heart rate by cardiac conduction; bundle of His cell to Purkinje myocyte communication; regulation of ventricular cardiac muscle cell action potential; execution phase of apoptosis; desmosome; plasma membrane; calcium ion binding
Homolog in other species DSG2
Omim http://omim.org/entry/125671
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN M1, BLASTOCYSTS, GI GROUP, EPITH GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000044393
Chromosome 18
Coordinate 20,590,020     (Assembly: GRCm38)    
Ref Base T
Codon Change Tcc/Acc
Var Base A
Zygosity Heterozygous
Read Depth 21
Allele Frequency
T:R0.67
A:V0.33
Amino Acid Position 368
Amino Acid Change S->T (Serine -> Threonine)
Sample ID IGL02263
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 26 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved