|Institutional Source||Beutler Lab|
|Gene Name||NLR family, pyrin domain containing 14|
|Synonyms||4921520L01Rik, GC-LRR, Nalp-iota, Nalp14|
|Is this an essential gene?||Possibly non essential (E-score: 0.385)|
|Stock #||R7116 (G1)|
|Chromosomal Location||107166990-107198102 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 107183048 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 484 (D484G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081819 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084763] [ENSMUST00000142623]|
|Predicted Effect||possibly damaging
AA Change: D484G
PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: D484G
|Predicted Effect||probably benign
|Coding Region Coverage||
|MGI Phenotype||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]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nlrp14||
(F):5'- CACATTCATGACCCTCATTTGG -3'
(R):5'- AACACTTACCACATTTCAGCTGTG -3'
(F):5'- TCATGACCCTCATTTGGAACAG -3'
(R):5'- ACCACATTTCAGCTGTGTCCAAC -3'