|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: 0.105)|
|Stock #||R7950 (G1)|
|Chromosomal Location||74426295-74459108 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 74445615 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 591 (I591N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059637 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052124]|
|Predicted Effect||probably damaging
AA Change: I591N
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: I591N
|Coding Region Coverage||
|Validation Efficiency||100% (47/47)|
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'- GAGTCTTGAATTCCTGCTTCCAG -3'
(R):5'- CTCTGGAGGCAGGAATCAATC -3'
(F):5'- CAAAGACACAGCCCTGGGG -3'
(R):5'- TCCAGAGTCTGAGAAATACCACTGAG -3'