Fzd9 - SNV Details



 Gene Information 
Gene Name Fzd9
Gene Description frizzled homolog 9 (Drosophila) [Source:MGI Symbol;Acc:MGI:1313278]
MGI phenotype Mice homozygous for one allele exhibit immune system abnormalities while another null allele causes neurological abnormalities. A third null mutation results in growth retardation and abnormalities in bone mineralization.
Uniprot Name
CCDS Name
Gene GO
Wnt-protein binding; vasculature development; Wnt receptor signaling pathway; canonical Wnt receptor signaling pathway; perinuclear region of cytoplasm; membrane; integral to membrane; cytoplasm; transmembrane signaling receptor activity; B cell differentiation; protein homodimerization activity; regulation of transcription from RNA polymerase II promoter; protein binding; cell surface; neuroblast proliferation; PDZ domain binding; G-protein coupled receptor activity; cell surface receptor signaling pathway; learning or memory; gonad development; plasma membrane; filopodium membrane; Wnt-activated receptor activity; embryo development; protein heterodimerization activity; brain development
Homolog in other species FZD9
Omim http://omim.org/entry/601766
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000049551
Chromosome 5
Coordinate 135,249,615     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 27
Allele Frequency
A:R0.48
G:V0.52
Amino Acid Change L->P (Leucine -> Proline)
Sample ID IGL02510
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 46 Other Mutations

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

 Availability Details 
Availability Progeny Cryopreserved