Shroom2 - SNV Details



 Gene Information 
Gene Name Shroom2
Old Gene Names for Shroom2 Apxl , C630003h05rik
Gene Description shroom family member 2 [Source:MGI Symbol;Acc:MGI:107194]
Uniprot Name
CCDS Name
Gene GO
apical junction complex; tight junction; melanosome organization; cell cortex; beta-catenin binding; apical plasma membrane; cytoplasm; cell morphogenesis; camera-type eye morphogenesis; negative regulation of actin filament depolymerization; microtubule; filamentous actin; cell-cell adherens junction; cell-cell junction; protein binding; neuronal cell body; eye pigment granule organization; cortical actin cytoskeleton; cell migration; extracellular vesicular exosome; cytoskeleton; protein domain specific binding; cellular pigment accumulation; actin filament binding; plasma membrane; cell-cell junction maintenance; actin binding; ear development; camera-type eye development; establishment of melanosome localization; lens morphogenesis in camera-type eye; brain development; apical protein localization
Homolog in other species SHROOM2
Omim http://omim.org/entry/300103
Immgen Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000045180
Chromosome X
Coordinate 152,613,516     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 20
Allele Frequency
A:R0.55
T:V0.45
Amino Acid Change F->Y (Phenylalanine -> Tyrosine)
Sample ID IGL00594
Median Base Quality 38.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved