|Institutional Source||Beutler Lab|
|Gene Name||NLR family, CARD domain containing 4|
|Synonyms||Card12, Ipaf, 9530011P19Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.120)|
|Stock #||R7190 (G1)|
|Chromosomal Location||74426295-74459108 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 74445203 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 728 (D728E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059637 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052124]|
|PDB Structure||Crystal structure of NLRC4 reveals its autoinhibition mechanism [X-RAY DIFFRACTION]|
|Predicted Effect||probably damaging
AA Change: D728E
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D728E
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (50/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygotes for a null allele show lack of caspase-1 activation in macrophages infected with Legionella and Salmonella, and enhanced permissivity to Legionella replication. Homozygotes for another null allele fail to show caspase dependent cell death andIL-1beta secretion upon Salmonella infection. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nlrc4||
(F):5'- ATAAGCCAGGCTCTGTGGTG -3'
(R):5'- GGTCACACTCCGAGATATTAACAAG -3'
(F):5'- GTGCGCCCAGGACGTAAAAC -3'
(R):5'- ATCAAGAGATGTGCAGCC -3'