|Institutional Source||Beutler Lab|
|Gene Name||NLR family, pyrin domain containing 12|
|Is this an essential gene?||Probably non essential (E-score: 0.119)|
|Stock #||R0090 (G1)|
|Chromosomal Location||3218784-3249740 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 3240034 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 616 (E616G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000104293 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000108653]|
|Predicted Effect||probably damaging
AA Change: E616G
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: E616G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2530|
|Coding Region Coverage||
|Validation Efficiency||99% (90/91)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele have defects in dendritic and myeloid cell migration and a decreased susceptibility to type IV hypersensitivity reactions. Mice homozygous for a second null allele display increased susceptibility to induced colitis and to chemically-induced tumors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nlrp12||
(F):5'- CCCCAAGGGCACTTACAAGTATGTG -3'
(R):5'- GTTTGGCCTCCTCAACGAAGAGATG -3'
(F):5'- GCACTTACAAGTATGTGGACTG -3'
(R):5'- CCTCCTCAACGAAGAGATGAGATG -3'