Nprl3 - SNV Details



 Gene Information 
Gene Name Nprl3
Old Gene Names for Nprl3 Mare , Phg
Gene Description nitrogen permease regulator-like 3 [Source:MGI Symbol;Acc:MGI:109258]
MGI phenotype This gene is deleted in the <A HREF=http://www.informatics.jax.org/searches/accession_report.cgi?id=MGI:1858115>Hba<sup>th-J</sup></A> mutation.
Uniprot Name
CCDS Name
Gene GO
cellular_component; biological_process; molecular_function
Homolog in other species NPRL3
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020289
Chromosome 11
Coordinate 32,267,539     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 16
Allele Frequency
A:R0.50
T:V0.50
Amino Acid Change M->K (Methionine -> Lysine)
Sample ID IGL02410
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.9
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved