Fscn2 - SNV Details

 Human Rare Diseases 
Retinitis pigmentosa

 Gene Information 
Gene Name Fscn2
Old Gene Names for Fscn2 C630046b20rik
Gene Description fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) [Source:MGI Symbol;Acc:MGI:2443337]
MGI phenotype Mice homozygous for disruptions in this gene display retinal generation with structural abnormalities of the outer segment and depressed rod and cone ERGs that worsen with age.
Uniprot Name
Gene GO
protein binding
bridging; actin cytoskeleton organization; cytoplasm; eye photoreceptor cell development; actin cytoskeleton; actin filament binding; growth factor activity; actin binding; stereocilium
Homolog in other species FSCN2
Omim http://omim.org/entry/607643
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000025380
Chromosome 11
Coordinate 120,362,055     (Assembly: GRCm38)    
Ref Base A
Codon Change gAc/gGc
Var Base G
Zygosity Heterozygous
Read Depth 75
Allele Frequency
Amino Acid Position 116
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02212
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 72 Other Mutations

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

 Protein domains 
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Actin cross-linking Actin_cross-linking IPR008999 ENSMUSP00000026445 Superfamily 8
139 Description available Search pathways
Fascin domain Fascin-domain IPR022768 ENSMUSP00000026445 Pfam 21
133 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved