|Institutional Source||Beutler Lab|
|Gene Name||NLR family, pyrin domain containing 10|
|Synonyms||Nalp10, 6430548I20Rik, Pynod|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||IGL02835 (G1)|
|Chromosomal Location||108921852-108930178 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 108924662 bp|
|Amino Acid Change||Isoleucine to Lysine at position 537 (I537K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000050252 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000055745]|
|Predicted Effect||possibly damaging
AA Change: I537K
PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: I537K
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||98% (57/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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). The protein encoded by this gene belongs to the NALP protein family despite lacking the LRR region. This protein likely plays a regulatory role in the innate immune system. The protein belongs to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. Other experiments indicate that this gene acts as a multifunctional negative regulator of inflammation and apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display a global defect in adaptive immune responses with impaired dendritic cell migration to lymph nodes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nlrp10||
(F):5'- ATGGACTTTGTACCTTCCCG -3'
(R):5'- CTTGTGAAGGAGGACCAGAGTC -3'
(F):5'- GACTTTGTACCTTCCCGCTACTAAAG -3'
(R):5'- CAGGGAGAGGCCACACAC -3'