|Institutional Source||Beutler Lab|
|Gene Name||NLR family, pyrin domain containing 9B|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6456 (G1)|
|Chromosomal Location||19991465-20073306 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 20048778 bp|
|Amino Acid Change||Asparagine to Lysine at position 872 (N872K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000072895 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000073151] [ENSMUST00000117909]|
|Predicted Effect||probably damaging
AA Change: N872K
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: N872K
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]
PHENOTYPE: The protein protects against rotavirus infection. Homozygous KO leads to increased susceptibility to infection and greater severity of pathology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nlrp9b||
(F):5'- TGGAGTAATGTAGACAGCAATAAATG -3'
(R):5'- ATGCTAGGCGGACTTCCT -3'
(F):5'- GTATGATTTCCCAGGTTGC -3'
(R):5'- ATGCTAGGCGGACTTCCTCTTAAC -3'