Incidental Mutation 'R9324:Nlrp3'
ID 706398
Institutional Source Beutler Lab
Gene Symbol Nlrp3
Ensembl Gene ENSMUSG00000032691
Gene Name NLR family, pyrin domain containing 3
Synonyms Mmig1, Cias1, NALP3, cryopyrin, Pypaf1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R9324 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 59432395-59457781 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59434141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 68 (M68K)
Ref Sequence ENSEMBL: ENSMUSP00000078440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079476] [ENSMUST00000101148] [ENSMUST00000149126]
AlphaFold Q8R4B8
Predicted Effect probably damaging
Transcript: ENSMUST00000079476
AA Change: M68K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078440
Gene: ENSMUSG00000032691
AA Change: M68K

DomainStartEndE-ValueType
PYRIN 4 87 6.39e-33 SMART
FISNA 135 206 1.45e-22 SMART
Pfam:NACHT 216 385 6.7e-52 PFAM
low complexity region 533 539 N/A INTRINSIC
low complexity region 688 697 N/A INTRINSIC
LRR_RI 737 764 1.07e-9 SMART
LRR 766 793 5.13e1 SMART
LRR 794 821 3.86e-7 SMART
LRR 823 850 1.62e0 SMART
LRR 851 878 3.39e-3 SMART
LRR 880 907 1.2e2 SMART
LRR 908 935 2.24e-3 SMART
LRR 937 964 2.16e2 SMART
LRR 965 992 8.73e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000101148
AA Change: M68K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098707
Gene: ENSMUSG00000032691
AA Change: M68K

DomainStartEndE-ValueType
PYRIN 4 87 6.39e-33 SMART
FISNA 135 206 1.45e-22 SMART
Pfam:NACHT 216 385 6.7e-52 PFAM
low complexity region 533 539 N/A INTRINSIC
low complexity region 688 697 N/A INTRINSIC
LRR_RI 737 764 1.07e-9 SMART
LRR 766 793 5.13e1 SMART
LRR 794 821 3.86e-7 SMART
LRR 823 850 1.62e0 SMART
LRR 851 878 3.39e-3 SMART
LRR 880 907 1.2e2 SMART
LRR 908 935 2.24e-3 SMART
LRR 937 964 2.16e2 SMART
LRR 965 992 8.73e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000149126
AA Change: M68K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114231
Gene: ENSMUSG00000032691
AA Change: M68K

DomainStartEndE-ValueType
PYRIN 4 87 6.39e-33 SMART
Pfam:FISNA 135 173 1.6e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for null mutations exhibit attenuated inflammatory responses related to decrease secretion of IL-1beta and IL-18. Mice heterozygous for activating mutations suffer from autoinflammatory attacks that lead to organ failure and death before weaning. [provided by MGI curators]
Allele List at MGI

All alleles(13) : Targeted(9) Chemically induced(4)

Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,179,856 (GRCm39) H358R probably benign Het
Arid3c A G 4: 41,730,138 (GRCm39) L19S possibly damaging Het
Arpp21 T A 9: 111,986,765 (GRCm39) D262V probably damaging Het
Atp4a A C 7: 30,415,207 (GRCm39) I276L probably benign Het
Axl C G 7: 25,460,982 (GRCm39) E676Q probably damaging Het
Ces1g T C 8: 94,055,118 (GRCm39) D193G probably damaging Het
Crym A G 7: 119,789,005 (GRCm39) V274A probably damaging Het
Efcab5 T A 11: 77,004,546 (GRCm39) H924L possibly damaging Het
Eif1ad7 T A 12: 88,238,709 (GRCm39) N17I unknown Het
Eif3l T A 15: 78,978,423 (GRCm39) M560K probably benign Het
Fam234b C A 6: 135,202,793 (GRCm39) Y382* probably null Het
Fbxw19 T C 9: 109,313,440 (GRCm39) K253E possibly damaging Het
Fhip1a T C 3: 85,638,053 (GRCm39) D82G probably benign Het
Flt3 A G 5: 147,313,790 (GRCm39) S87P probably benign Het
Garin3 A T 11: 46,295,810 (GRCm39) I61F Het
Ggnbp2 A G 11: 84,725,174 (GRCm39) L627S probably damaging Het
Gm26661 T G 14: 7,791,765 (GRCm38) V60G unknown Het
Golt1a T C 1: 133,247,094 (GRCm39) L34P probably damaging Het
Gp5 T C 16: 30,127,808 (GRCm39) M289V possibly damaging Het
Gpr63 C G 4: 25,008,432 (GRCm39) H385Q possibly damaging Het
Hcn1 G A 13: 118,111,901 (GRCm39) V622I unknown Het
Hipk4 A G 7: 27,228,834 (GRCm39) D428G probably damaging Het
Hs3st1 T C 5: 39,772,145 (GRCm39) Y166C probably damaging Het
Hsd17b3 A G 13: 64,206,459 (GRCm39) F281S possibly damaging Het
Ifih1 T C 2: 62,475,950 (GRCm39) T109A probably benign Het
Ighv1-64 T A 12: 115,471,645 (GRCm39) probably benign Het
Ina T C 19: 47,003,816 (GRCm39) L208P Het
Iqcn C T 8: 71,161,794 (GRCm39) T329I possibly damaging Het
Irak2 T C 6: 113,615,604 (GRCm39) probably null Het
Klhl10 G A 11: 100,338,481 (GRCm39) E407K probably benign Het
Krt81 A G 15: 101,361,335 (GRCm39) S82P probably damaging Het
Ktn1 C A 14: 47,948,353 (GRCm39) Q963K probably benign Het
Lgalsl2 G A 7: 5,362,527 (GRCm39) V53I possibly damaging Het
Lrrc42 A T 4: 107,104,913 (GRCm39) Y17* probably null Het
Lrrc9 A C 12: 72,496,171 (GRCm39) E15D probably damaging Het
Mak G A 13: 41,202,839 (GRCm39) T203I probably benign Het
Masp2 T C 4: 148,692,485 (GRCm39) V326A possibly damaging Het
Mdc1 T C 17: 36,164,258 (GRCm39) S1269P probably benign Het
Mink1 G A 11: 70,502,477 (GRCm39) V1027M probably damaging Het
Mrps10 C A 17: 47,686,903 (GRCm39) S123* probably null Het
Myl10 C T 5: 136,729,787 (GRCm39) H142Y probably damaging Het
Ncan T C 8: 70,560,648 (GRCm39) Q773R possibly damaging Het
Ntrk1 C T 3: 87,698,745 (GRCm39) V99M possibly damaging Het
Odad3 T C 9: 21,903,207 (GRCm39) E402G probably damaging Het
Or4p22 C T 2: 88,317,787 (GRCm39) T237I probably damaging Het
Or5an1 A G 19: 12,260,939 (GRCm39) R176G probably benign Het
Or8c8 A G 9: 38,164,962 (GRCm39) K80R probably benign Het
Phldb2 A G 16: 45,595,437 (GRCm39) V830A probably damaging Het
Phospho2 T C 2: 69,625,913 (GRCm39) V23A probably damaging Het
Plxnc1 G A 10: 94,780,685 (GRCm39) probably benign Het
Ppcdc T C 9: 57,342,280 (GRCm39) E14G probably benign Het
Ralgapa2 T C 2: 146,302,645 (GRCm39) Y106C probably damaging Het
Rgs22 T C 15: 36,087,544 (GRCm39) Q582R probably benign Het
Rngtt T A 4: 33,320,613 (GRCm39) Y53* probably null Het
Slc12a3 T G 8: 95,083,028 (GRCm39) probably null Het
Slc26a11 A G 11: 119,267,730 (GRCm39) T456A probably benign Het
Slc26a5 G T 5: 22,018,334 (GRCm39) A677E possibly damaging Het
Smurf1 T C 5: 144,817,463 (GRCm39) T690A probably benign Het
Spata24 A T 18: 35,790,064 (GRCm39) N142K probably damaging Het
Ubqlnl A T 7: 103,798,962 (GRCm39) N178K possibly damaging Het
Uggt2 A G 14: 119,312,741 (GRCm39) probably null Het
Vmn1r2 C A 4: 3,172,678 (GRCm39) A199D probably damaging Het
Vmn2r39 T C 7: 9,030,684 (GRCm39) N128S probably damaging Het
Vmn2r61 G T 7: 41,916,619 (GRCm39) V411F probably benign Het
Vmn2r-ps117 T A 17: 19,042,911 (GRCm39) F106L probably benign Het
Zfp503 A T 14: 22,035,353 (GRCm39) I521N possibly damaging Het
Zfp831 T C 2: 174,547,113 (GRCm39) V1432A probably benign Het
Zfp981 T A 4: 146,619,884 (GRCm39) L13I possibly damaging Het
Other mutations in Nlrp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Nlrp3 APN 11 59,456,769 (GRCm39) missense probably damaging 0.99
IGL00573:Nlrp3 APN 11 59,455,942 (GRCm39) missense possibly damaging 0.93
IGL01025:Nlrp3 APN 11 59,442,713 (GRCm39) missense probably benign 0.21
IGL01637:Nlrp3 APN 11 59,440,204 (GRCm39) missense probably damaging 0.99
IGL02010:Nlrp3 APN 11 59,440,361 (GRCm39) missense probably benign
IGL02334:Nlrp3 APN 11 59,455,909 (GRCm39) missense probably benign
IGL02417:Nlrp3 APN 11 59,456,849 (GRCm39) unclassified probably benign
IGL02578:Nlrp3 APN 11 59,439,227 (GRCm39) missense probably damaging 1.00
IGL02710:Nlrp3 APN 11 59,456,802 (GRCm39) missense probably damaging 0.99
IGL02816:Nlrp3 APN 11 59,446,608 (GRCm39) missense probably benign 0.03
IGL03157:Nlrp3 APN 11 59,440,372 (GRCm39) missense possibly damaging 0.80
IGL03334:Nlrp3 APN 11 59,439,842 (GRCm39) missense probably damaging 1.00
Flogiston UTSW 11 59,449,274 (GRCm39) missense probably benign 0.00
nd1 UTSW 11 59,456,800 (GRCm39) missense probably benign 0.45
Nd14 UTSW 11 59,446,701 (GRCm39) missense possibly damaging 0.89
Nd3 UTSW 11 59,456,800 (GRCm39) missense probably benign 0.45
nd5 UTSW 11 59,456,705 (GRCm39) missense probably benign 0.01
nd6 UTSW 11 59,440,180 (GRCm39) missense probably damaging 1.00
nd7 UTSW 11 59,446,701 (GRCm39) missense possibly damaging 0.89
Nd9 UTSW 11 59,440,180 (GRCm39) missense probably damaging 1.00
Park2 UTSW 11 59,455,954 (GRCm39) nonsense probably null
Park3 UTSW 11 59,456,676 (GRCm39) missense probably benign 0.02
Park4 UTSW 11 59,440,357 (GRCm39) missense probably benign 0.19
Park5 UTSW 11 59,439,302 (GRCm39) missense probably damaging 0.99
Park6 UTSW 11 59,439,862 (GRCm39) missense probably damaging 1.00
Park7 UTSW 11 59,438,836 (GRCm39) nonsense probably null
Park8 UTSW 11 59,457,025 (GRCm39) missense probably benign 0.19
R0008:Nlrp3 UTSW 11 59,449,274 (GRCm39) missense probably benign 0.00
R0008:Nlrp3 UTSW 11 59,449,274 (GRCm39) missense probably benign 0.00
R0052:Nlrp3 UTSW 11 59,455,954 (GRCm39) nonsense probably null
R0362:Nlrp3 UTSW 11 59,439,623 (GRCm39) missense possibly damaging 0.49
R0416:Nlrp3 UTSW 11 59,446,750 (GRCm39) splice site probably benign
R0649:Nlrp3 UTSW 11 59,439,368 (GRCm39) missense possibly damaging 0.83
R0740:Nlrp3 UTSW 11 59,439,082 (GRCm39) missense probably benign 0.01
R0863:Nlrp3 UTSW 11 59,456,676 (GRCm39) missense probably benign 0.02
R1300:Nlrp3 UTSW 11 59,446,594 (GRCm39) missense possibly damaging 0.86
R1414:Nlrp3 UTSW 11 59,440,357 (GRCm39) missense probably benign 0.19
R1622:Nlrp3 UTSW 11 59,439,302 (GRCm39) missense probably damaging 0.99
R1654:Nlrp3 UTSW 11 59,433,949 (GRCm39) missense probably benign 0.03
R1715:Nlrp3 UTSW 11 59,434,177 (GRCm39) missense probably damaging 1.00
R1754:Nlrp3 UTSW 11 59,449,228 (GRCm39) missense possibly damaging 0.80
R1837:Nlrp3 UTSW 11 59,439,742 (GRCm39) missense probably benign 0.00
R1905:Nlrp3 UTSW 11 59,439,862 (GRCm39) missense probably damaging 1.00
R2281:Nlrp3 UTSW 11 59,439,962 (GRCm39) missense possibly damaging 0.70
R4296:Nlrp3 UTSW 11 59,440,487 (GRCm39) missense possibly damaging 0.89
R4305:Nlrp3 UTSW 11 59,438,836 (GRCm39) nonsense probably null
R4540:Nlrp3 UTSW 11 59,442,725 (GRCm39) missense possibly damaging 0.83
R4591:Nlrp3 UTSW 11 59,440,048 (GRCm39) missense probably benign 0.00
R4816:Nlrp3 UTSW 11 59,439,127 (GRCm39) missense probably benign 0.32
R4913:Nlrp3 UTSW 11 59,440,064 (GRCm39) missense probably benign 0.09
R4970:Nlrp3 UTSW 11 59,439,554 (GRCm39) missense probably damaging 1.00
R5051:Nlrp3 UTSW 11 59,457,025 (GRCm39) missense probably benign 0.19
R5112:Nlrp3 UTSW 11 59,439,554 (GRCm39) missense probably damaging 1.00
R5185:Nlrp3 UTSW 11 59,455,910 (GRCm39) missense probably benign 0.05
R5417:Nlrp3 UTSW 11 59,439,889 (GRCm39) missense probably damaging 1.00
R5709:Nlrp3 UTSW 11 59,446,574 (GRCm39) nonsense probably null
R5869:Nlrp3 UTSW 11 59,438,960 (GRCm39) missense probably damaging 1.00
R5898:Nlrp3 UTSW 11 59,437,678 (GRCm39) missense probably benign 0.00
R5953:Nlrp3 UTSW 11 59,437,617 (GRCm39) missense probably benign
R5979:Nlrp3 UTSW 11 59,439,797 (GRCm39) missense probably benign 0.06
R6359:Nlrp3 UTSW 11 59,439,392 (GRCm39) missense probably damaging 0.97
R6723:Nlrp3 UTSW 11 59,456,018 (GRCm39) missense probably damaging 1.00
R7261:Nlrp3 UTSW 11 59,439,272 (GRCm39) missense possibly damaging 0.83
R7349:Nlrp3 UTSW 11 59,438,912 (GRCm39) missense probably damaging 1.00
R7388:Nlrp3 UTSW 11 59,455,892 (GRCm39) missense probably benign 0.00
R7715:Nlrp3 UTSW 11 59,433,829 (GRCm39) splice site probably null
R7916:Nlrp3 UTSW 11 59,442,689 (GRCm39) missense probably benign 0.00
R8222:Nlrp3 UTSW 11 59,439,614 (GRCm39) missense probably damaging 0.98
R8360:Nlrp3 UTSW 11 59,440,229 (GRCm39) missense probably benign 0.02
R8390:Nlrp3 UTSW 11 59,442,616 (GRCm39) missense possibly damaging 0.47
R8550:Nlrp3 UTSW 11 59,440,097 (GRCm39) missense probably damaging 1.00
R8738:Nlrp3 UTSW 11 59,440,216 (GRCm39) missense probably benign 0.00
R8940:Nlrp3 UTSW 11 59,455,870 (GRCm39) missense probably benign 0.26
R8990:Nlrp3 UTSW 11 59,439,584 (GRCm39) missense probably damaging 0.99
R9673:Nlrp3 UTSW 11 59,440,148 (GRCm39) missense probably damaging 1.00
RF031:Nlrp3 UTSW 11 59,449,378 (GRCm39) frame shift probably null
RF040:Nlrp3 UTSW 11 59,449,378 (GRCm39) frame shift probably null
Z1088:Nlrp3 UTSW 11 59,442,686 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- CTAGAGGACCTTGAAGATGTGG -3'
(R):5'- AGCCTGGGATACTTGAGACTC -3'

Sequencing Primer
(F):5'- GACCTTGAAGATGTGGACCTC -3'
(R):5'- TTATGCTAAGTGAAGTAAGCCAGCC -3'
Posted On 2022-04-18