|Institutional Source||Beutler Lab|
|Gene Name||NLR family, pyrin domain containing 3|
|Synonyms||Cias1, cryopyrin, Pypaf1, NALP3, Mmig1|
Ncbi RefSeq: NM_145827.3; MGI:2653833
|Essential gene?||Probably non essential (E-score: 0.081)|
|Stock #||R7715 (G1)|
|Chromosomal Location||59541568-59566956 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to A at 59543003 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000114231 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000079476] [ENSMUST00000101148] [ENSMUST00000149126]|
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||99% (67/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nlrp3||
(F):5'- GGAACTTTTCTTCCATGGCTCAG -3'
(R):5'- CGGGCGGGTAATCTTCCAAATG -3'
(F):5'- TTCCATGGCTCAGGACATACG -3'
(R):5'- GCGGGTAATCTTCCAAATGCATTTTG -3'