Tjp2 - SNV Details



 Human Rare Diseases 
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Familial hypercholanemia

 Gene Information 
Gene Name Tjp2
Gene Description tight junction protein 2 [Source:MGI Symbol;Acc:MGI:1341872]
MGI phenotype Homozygous mutation of this gene results in lethality shortly after implantation due to arrest in early gastrulation. Structure and permeability barrier of the apical junctional complex are altered in cells.
Uniprot Name
CCDS Name
Gene GO
tight junction; cytoplasm; protein binding; cell junction; nucleus; plasma membrane
Homolog in other species TJP2
Omim http://omim.org/entry/607709
Immgen Expression
LOW(HIGH IN DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN EMB GROUP, PLACENTA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024812
Chromosome 19
Coordinate 24,138,786     (Assembly: GRCm38)    
Ref Base A
Codon Change cTg/cAg
Var Base T
Zygosity Heterozygous
Read Depth 21
Allele Frequency
A:R0.43
T:V0.57
Amino Acid Position 13
Amino Acid Change L->Q (Leucine -> Glutamine)
Sample ID IGL02212
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 72 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved