Fxr2 - SNV Details



 Gene Information 
Gene Name Fxr2
Old Gene Names for Fxr2 Fxr2h
Gene Description fragile X mental retardation, autosomal homolog 2 [Source:MGI Symbol;Acc:MGI:1346074]
MGI phenotype Homozygotes for a targeted null mutation exhibit hyperactivity, impaired Morris water task performance, and reductions in prepulse inhibition, contextual conditioned fear, and sensitivity to heat stimulus.
Uniprot Name
CCDS Name
Gene GO
RNA binding; cytoplasm; protein binding
Homolog in other species FXR2
Omim http://omim.org/entry/605339
Immgen Expression
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000018765
Chromosome 11
Coordinate 69,649,838     (Assembly: GRCm38)    
Ref Base G
Var Base T
Zygosity Heterozygous
Read Depth 23
Allele Frequency
G:R0.61
T:V0.39
Amino Acid Change Disrupted splicing
Splice Position 1
Sample ID IGL02332
Median Base Quality 37
Backgrounds C57BL/6j
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 54 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved