Nphp3 - SNV Details



 Human Rare Diseases 
Senior-Loken syndrome
Late-onset autosomal recessive medullary cystic kidney disease
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia

 Gene Information 
Gene Name Nphp3
Old Gene Names for Nphp3 D330020e01rik , 3632410f03rik , Ai550417
Gene Description nephronophthisis 3 (adolescent) [Source:MGI Symbol;Acc:MGI:1921275]
MGI phenotype Homozygous hypomorphic mice display slowly progressing kidney cysts, enlarged kidneys, increased blood urea nitrogen, kidney inflammation and associated fibrosis, and premature death. Homozygous null mice display mid gestational lethality with partial penetrance of situs inversus.
Uniprot Name
CCDS Name
Gene GO
Wnt receptor signaling pathway; cilium; lipid metabolic process; photoreceptor cell maintenance; ureter development; kidney morphogenesis; negative regulation of canonical Wnt receptor signaling pathway; protein binding; cilium morphogenesis; maintenance of organ identity; convergent extension involved in gastrulation; regulation of Wnt receptor signaling pathway
planar cell polarity pathway; determination of left/right symmetry; primary cilium; molecular_function
Homolog in other species NPHP3
Omim http://omim.org/entry/608002
Immgen Expression
MEDIAN(HIGH IN DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
LOW
MEDIAN
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032558
Chromosome 9
Coordinate 104,025,968     (Assembly: GRCm38)    
Ref Base A
Codon Change Agc/Cgc
Var Base C
Zygosity Heterozygous
Read Depth 49
Allele Frequency
A:R0.61
C:V0.39
Amino Acid Position 715
Amino Acid Change S->R (Serine -> Arginine)
Sample ID IGL02329
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved