|Institutional Source||Beutler Lab|
|Gene Name||NLR family, pyrin domain containing 2|
|Synonyms||Nbs1, Pan1, PYPAF2, E330007A02Rik, Nalp2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8785 (G1)|
|Chromosomal Location||5298547-5351035 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 5327549 bp (GRCm38)|
|Amino Acid Change||Histidine to Leucine at position 616 (H616L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045077 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045022]|
AA Change: H616L
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: H616L
|Meta Mutation Damage Score||0.6329|
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). Members of this gene family are thought to be important regulators of immune responses. This gene product interacts with components of the IkB kinase (IKK) complex, and can regulate both caspase-1 and NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) activity. The pyrin domain is necessary and sufficient for suppression of NF-kB activity. An allelic variant (rs147585490) has been found that is incapable of blocking the transcriptional activity of NF-kB. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nlrp2||
(F):5'- ATAGAGAATGAGAGACTTCAGCCTC -3'
(R):5'- GCTGCCAAATATCAACTGAGG -3'
(F):5'- TATTAAATACACAAGGGATGAGTTGG -3'
(R):5'- GCTGCCAAATATCAACTGAGGTCAAG -3'