Nlrp3 - SNV Details



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

 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
CCDS 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; interleukin-1 beta production; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; NLRP3 inflammasome complex; protein binding; inflammatory response; negative regulation of acute inflammatory response; cellular response to lipopolysaccharide; cytosol; NLRP3 inflammasome complex assembly; defense response to virus; regulation of inflammatory response; ATP binding; negative regulation of NF-kappaB import into nucleus; negative regulation of interleukin-1 beta secretion
Homolog in other species NLRP3
Omim http://omim.org/entry/606416
Immgen Expression
LOW(HIGH IN MYELOID GOUP, DC8+.TH, DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032691
Chromosome 11
Coordinate 59,549,016     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 54
Allele Frequency
T:R0.48
A:V0.52
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL03334
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability