Nlrp3 - SNV Details

 Human Rare Diseases 
Muckle-Wells syndrome
CINCA syndrome with CIAS1 mutations
Familial cold urticaria

 Gene Information 
Gene Name Nlrp3
Old Gene Names for Nlrp3 Cias1
Gene Description NLR family, pyrin domain containing 3 [Source:MGI Symbol;Acc:MGI:2653833]
MGI phenotype Mice homozygous for null mutations exhibit attenuated inflammatory responses related to decrease secretion of IL-1beta and IL-18. Mice heterozygous for activating mutations suffer from autoinflammatory attacks that lead to organ failure and death before weaning.
Uniprot Name
Gene GO
interleukin-1 secretion; negative regulation of inflammatory response; negative regulation of NF-kappaB transcription factor activity; positive regulation of NF-kappaB transcription factor activity; interleukin-18 production; activation of cysteine-type endopeptidase activity involved in apoptotic process; positive regulation of interleukin-1 beta secretion; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; protein binding; NLRP3 inflammasome complex; inflammatory response; cytosol; defense response to virus; ATP binding; negative regulation of NF-kappaB import into nucleus
Homolog in other species NLRP3
Immgen Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032691
Chromosome 11
Coordinate 59,549,535     (Assembly: GRCm38)    
Ref Base A
Codon Change gAc/gGc
Var Base G
Zygosity Heterozygous
Read Depth 92
Allele Frequency
Amino Acid Position 646
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02010
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 61 Other Mutations

Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.72
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved