Incidental Mutation 'R7349:Nlrp3'
ID 570441
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 045435-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R7349 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 59432395-59457781 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 59438912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 163 (R163H)
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: R163H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078440
Gene: ENSMUSG00000032691
AA Change: R163H

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: R163H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098707
Gene: ENSMUSG00000032691
AA Change: R163H

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: R163H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114231
Gene: ENSMUSG00000032691
AA Change: R163H

DomainStartEndE-ValueType
PYRIN 4 87 6.39e-33 SMART
Pfam:FISNA 135 173 1.6e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (70/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T A 13: 60,990,717 (GRCm39) T326S possibly damaging Het
Acly A T 11: 100,412,817 (GRCm39) H91Q probably benign Het
Acp3 T A 9: 104,168,657 (GRCm39) I403F probably benign Het
Angpt2 T A 8: 18,742,090 (GRCm39) M489L probably damaging Het
Arap1 T C 7: 101,039,435 (GRCm39) I565T possibly damaging Het
Atg16l2 T C 7: 100,939,473 (GRCm39) D563G probably damaging Het
Atp6v0a2 T A 5: 124,789,392 (GRCm39) Y386* probably null Het
Atp8b4 A G 2: 126,167,265 (GRCm39) V1078A probably benign Het
Bsn T C 9: 107,987,982 (GRCm39) D2590G unknown Het
Casp12 T C 9: 5,345,527 (GRCm39) probably null Het
Ccdc87 T C 19: 4,891,868 (GRCm39) S787P probably damaging Het
Cdh13 A G 8: 119,969,097 (GRCm39) T485A probably damaging Het
Cstdc5 A G 16: 36,184,674 (GRCm39) V23A probably damaging Het
Dip2a T C 10: 76,121,426 (GRCm39) H810R probably damaging Het
Dmbt1 A T 7: 130,642,854 (GRCm39) Y120F unknown Het
Dmgdh C T 13: 93,888,741 (GRCm39) T793I possibly damaging Het
Dnhd1 A G 7: 105,359,330 (GRCm39) D3555G probably damaging Het
Eif4e1b T C 13: 54,932,006 (GRCm39) V30A probably benign Het
Ercc5 T G 1: 44,220,068 (GRCm39) D1113E possibly damaging Het
Fbn1 T C 2: 125,157,321 (GRCm39) N2321D possibly damaging Het
Fbrs T C 7: 127,081,971 (GRCm39) L237P probably damaging Het
Flg2 T A 3: 93,127,513 (GRCm39) S2142T unknown Het
Ftsj3 G A 11: 106,140,572 (GRCm39) T761I probably damaging Het
Gdi2 C A 13: 3,606,395 (GRCm39) T157N probably benign Het
Gm8122 C A 14: 43,088,058 (GRCm39) probably null Het
Gtpbp10 T C 5: 5,605,379 (GRCm39) E108G possibly damaging Het
Hectd4 T C 5: 121,448,726 (GRCm39) L358P probably damaging Het
Herc3 T C 6: 58,835,971 (GRCm39) C271R probably benign Het
Hspb1 C T 5: 135,918,187 (GRCm39) T178M possibly damaging Het
Htr3b C T 9: 48,847,319 (GRCm39) V399M probably benign Het
Hydin A G 8: 111,124,803 (GRCm39) probably null Het
Itpr3 T A 17: 27,326,786 (GRCm39) probably null Het
Iyd G T 10: 3,495,638 (GRCm39) V99F possibly damaging Het
Lrrc36 G A 8: 106,178,900 (GRCm39) G365D probably damaging Het
Map1b T A 13: 99,570,148 (GRCm39) I858F unknown Het
Med12l A T 3: 59,165,746 (GRCm39) D1488V probably damaging Het
Ms4a6c T A 19: 11,455,555 (GRCm39) N121K probably damaging Het
Nlrp1b T G 11: 71,072,943 (GRCm39) Q300P probably benign Het
Nr4a3 T G 4: 48,051,290 (GRCm39) S15A possibly damaging Het
Optc T G 1: 133,825,617 (GRCm39) D356A probably damaging Het
Or52h7 A G 7: 104,213,857 (GRCm39) H143R probably benign Het
Or9s15 T C 1: 92,524,904 (GRCm39) V221A possibly damaging Het
Pdzd2 C G 15: 12,399,291 (GRCm39) V812L probably damaging Het
Phlpp2 T C 8: 110,655,278 (GRCm39) F691S probably damaging Het
Pigk T C 3: 152,453,238 (GRCm39) F319L probably benign Het
Pkhd1l1 A G 15: 44,378,350 (GRCm39) T1035A probably damaging Het
Plekhg3 A G 12: 76,611,339 (GRCm39) T261A probably benign Het
Plekhm1 A G 11: 103,278,160 (GRCm39) F312S probably damaging Het
Pms2 T A 5: 143,862,654 (GRCm39) I587N probably benign Het
Ppl T A 16: 4,922,593 (GRCm39) H272L probably damaging Het
Prkce G A 17: 86,800,783 (GRCm39) A400T probably benign Het
Ptpn9 T C 9: 56,951,660 (GRCm39) S324P probably benign Het
Ptprk A T 10: 28,468,834 (GRCm39) N1432I possibly damaging Het
R3hdm2 T C 10: 127,328,515 (GRCm39) S746P probably benign Het
Rnf220 G A 4: 117,135,015 (GRCm39) A412V probably damaging Het
Scel G A 14: 103,781,315 (GRCm39) A154T probably benign Het
Sirpb1a A T 3: 15,475,664 (GRCm39) N290K probably damaging Het
Sirpb1c A T 3: 15,886,310 (GRCm39) probably null Het
Sorbs2 A T 8: 46,248,860 (GRCm39) R704* probably null Het
Spast T C 17: 74,680,319 (GRCm39) V427A probably damaging Het
Stxbp4 A T 11: 90,482,937 (GRCm39) probably null Het
Thsd7a C A 6: 12,352,067 (GRCm39) G1043C Het
Tmem205 C T 9: 21,832,410 (GRCm39) C167Y probably damaging Het
Trappc9 A T 15: 72,608,718 (GRCm39) L897* probably null Het
Trim36 A G 18: 46,302,495 (GRCm39) F518L probably benign Het
Ttc12 T G 9: 49,359,267 (GRCm39) T402P possibly damaging Het
Twnk T C 19: 44,998,600 (GRCm39) V506A possibly damaging Het
Vmn2r18 A T 5: 151,485,682 (GRCm39) L604* probably null Het
Wdr83 T C 8: 85,806,460 (GRCm39) N113D possibly damaging Het
Zfp628 G A 7: 4,924,817 (GRCm39) G1013E probably 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
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
R9324:Nlrp3 UTSW 11 59,434,141 (GRCm39) missense probably damaging 1.00
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'- TCCGCTAGCAGCTTATTGTTG -3'
(R):5'- CCAGTCCAACATAATCTTCCTGG -3'

Sequencing Primer
(F):5'- CTAGCAGCTTATTGTTGGGGAATG -3'
(R):5'- AGTCCAACATAATCTTCCTGGCTAGG -3'
Posted On 2019-09-13