|Institutional Source||Beutler Lab|
|Gene Name||NLR family, pyrin domain containing 2|
|Synonyms||Nbs1, Pan1, PYPAF2, E330007A02Rik, Nalp2|
|Is this an essential gene?||Probably non essential (E-score: 0.136)|
|Stock #||R4518 (G1)|
|Chromosomal Location||5298547-5351035 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 5325056 bp|
|Amino Acid Change||Aspartic acid to Valine at position 666 (D666V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045077 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045022] [ENSMUST00000207520]|
|Predicted Effect||possibly damaging
AA Change: D666V
PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: D666V
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0724|
|Coding Region Coverage||
|Validation Efficiency||98% (60/61)|
|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'- TACTTACACCACTTTCTGGAGAC -3'
(R):5'- CAACAACCCATCTGGATGCTG -3'
(F):5'- CCACTTTCTGGAGACAACAGG -3'
(R):5'- GGTCATGAATGCCTATAACCTCGG -3'