Incidental Mutation 'IGL01025:Nlrp3'
ID60234
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nlrp3
Ensembl Gene ENSMUSG00000032691
Gene NameNLR family, pyrin domain containing 3
SynonymsCias1, cryopyrin, Pypaf1, NALP3, Mmig1
Accession Numbers

Ncbi RefSeq: NM_145827.3; MGI:2653833

Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL01025
Quality Score
Status
Chromosome11
Chromosomal Location59541568-59566956 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 59551887 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 755 (M755K)
Ref Sequence ENSEMBL: ENSMUSP00000098707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079476] [ENSMUST00000101148] [ENSMUST00000149126]
Predicted Effect probably benign
Transcript: ENSMUST00000079476
AA Change: M755K

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000078440
Gene: ENSMUSG00000032691
AA Change: M755K

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 benign
Transcript: ENSMUST00000101148
AA Change: M755K

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000098707
Gene: ENSMUSG00000032691
AA Change: M755K

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 benign
Transcript: ENSMUST00000149126
SMART Domains Protein: ENSMUSP00000114231
Gene: ENSMUSG00000032691

DomainStartEndE-ValueType
PYRIN 4 87 6.39e-33 SMART
Pfam:FISNA 135 173 1.6e-12 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 3686871
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 37,046,280 H1218Q possibly damaging Het
Acap3 G A 4: 155,902,219 V335M probably damaging Het
Apex1 C T 14: 50,926,254 L113F possibly damaging Het
C530008M17Rik A G 5: 76,658,074 probably benign Het
Cd33 C T 7: 43,532,905 V39M probably damaging Het
Chek2 A G 5: 110,848,670 D166G probably damaging Het
Col2a1 T C 15: 97,976,173 K1376R unknown Het
Cpd C T 11: 76,795,613 R963H probably damaging Het
Cyp2c67 A C 19: 39,639,932 Y189* probably null Het
Dock6 T C 9: 21,811,807 E1606G possibly damaging Het
Dusp4 A T 8: 34,818,512 E309V probably benign Het
Dync2h1 A G 9: 7,162,789 I600T probably damaging Het
Fer1l4 A G 2: 156,052,185 V66A probably benign Het
Fktn T C 4: 53,737,568 L269P possibly damaging Het
Ftsj3 A G 11: 106,250,359 I645T probably damaging Het
Fxr2 A G 11: 69,643,887 H198R probably damaging Het
Fzd7 T C 1: 59,484,380 V474A probably damaging Het
Gm10295 T A 7: 71,350,658 D58V unknown Het
Gm13119 T A 4: 144,363,377 L329Q probably damaging Het
Hdlbp T C 1: 93,430,169 I337V probably benign Het
Hydin T C 8: 110,326,401 V235A probably benign Het
Igfbp4 C T 11: 99,048,243 H30Y probably damaging Het
Kcna4 T C 2: 107,296,391 V490A probably damaging Het
Kcnj13 T G 1: 87,386,978 D174A probably benign Het
Krt7 T A 15: 101,423,421 L373Q probably benign Het
Lama3 G A 18: 12,481,037 V1288I probably benign Het
Mroh9 T C 1: 163,047,866 D488G possibly damaging Het
Myh7 T C 14: 54,979,537 E1121G probably damaging Het
Myom1 A G 17: 71,077,917 N768D probably damaging Het
Naa16 T C 14: 79,384,756 T48A probably damaging Het
Naglu C T 11: 101,073,947 P287S probably benign Het
Nipbl A G 15: 8,350,455 V951A possibly damaging Het
Nlrp4e T C 7: 23,353,161 probably benign Het
Nt5dc1 C T 10: 34,407,557 A79T possibly damaging Het
Olfr432 T C 1: 174,050,685 F104S probably damaging Het
Olfr775 A T 10: 129,250,740 I69F possibly damaging Het
Olfr911-ps1 A G 9: 38,523,733 probably benign Het
Otof A G 5: 30,384,253 L774P possibly damaging Het
Phf20l1 C T 15: 66,613,132 R322C probably damaging Het
Pkhd1 C T 1: 20,209,176 G2973R probably benign Het
Plekhg5 G T 4: 152,108,526 D613Y probably damaging Het
Ppm1h T A 10: 122,878,629 probably null Het
Prpf39 T C 12: 65,042,481 probably benign Het
Rtn3 A G 19: 7,483,041 S15P unknown Het
Slc22a28 G T 19: 8,116,908 probably benign Het
Slc4a5 T A 6: 83,262,533 L143Q probably damaging Het
Sox17 T C 1: 4,492,203 D130G possibly damaging Het
Stag1 A G 9: 100,951,657 T1108A possibly damaging Het
Sugp2 G A 8: 70,242,535 D53N probably damaging Het
Trim33 G A 3: 103,353,918 probably benign Het
Ttn A G 2: 76,799,224 I14291T probably damaging Het
Ttn A G 2: 76,789,525 V15933A probably damaging Het
Tulp3 A C 6: 128,325,884 I324S probably damaging Het
Zfhx2 T C 14: 55,064,260 E2089G probably damaging Het
Zhx1 T C 15: 58,054,679 D57G probably benign Het
Other mutations in Nlrp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Nlrp3 APN 11 59565943 missense probably damaging 0.99
IGL00573:Nlrp3 APN 11 59565116 missense possibly damaging 0.93
IGL01637:Nlrp3 APN 11 59549378 missense probably damaging 0.99
IGL02010:Nlrp3 APN 11 59549535 missense probably benign
IGL02334:Nlrp3 APN 11 59565083 missense probably benign
IGL02417:Nlrp3 APN 11 59566023 unclassified probably benign
IGL02578:Nlrp3 APN 11 59548401 missense probably damaging 1.00
IGL02710:Nlrp3 APN 11 59565976 missense probably damaging 0.99
IGL02816:Nlrp3 APN 11 59555782 missense probably benign 0.03
IGL03157:Nlrp3 APN 11 59549546 missense possibly damaging 0.80
IGL03334:Nlrp3 APN 11 59549016 missense probably damaging 1.00
Flogiston UTSW 11 59558448 missense probably benign 0.00
nd1 UTSW 11 59565974 missense probably benign 0.45
Nd14 UTSW 11 59555875 missense possibly damaging 0.89
Nd3 UTSW 11 59565974 missense probably benign 0.45
nd5 UTSW 11 59565879 missense probably benign 0.01
nd6 UTSW 11 59549354 missense probably damaging 1.00
nd7 UTSW 11 59555875 missense possibly damaging 0.89
Nd9 UTSW 11 59549354 missense probably damaging 1.00
Park2 UTSW 11 59565128 nonsense probably null
Park3 UTSW 11 59565850 missense probably benign 0.02
Park4 UTSW 11 59549531 missense probably benign 0.19
Park5 UTSW 11 59548476 missense probably damaging 0.99
Park6 UTSW 11 59549036 missense probably damaging 1.00
Park7 UTSW 11 59548010 nonsense probably null
Park8 UTSW 11 59566199 missense probably benign 0.19
R0008:Nlrp3 UTSW 11 59558448 missense probably benign 0.00
R0008:Nlrp3 UTSW 11 59558448 missense probably benign 0.00
R0052:Nlrp3 UTSW 11 59565128 nonsense probably null
R0362:Nlrp3 UTSW 11 59548797 missense possibly damaging 0.49
R0416:Nlrp3 UTSW 11 59555924 splice site probably benign
R0649:Nlrp3 UTSW 11 59548542 missense possibly damaging 0.83
R0740:Nlrp3 UTSW 11 59548256 missense probably benign 0.01
R0863:Nlrp3 UTSW 11 59565850 missense probably benign 0.02
R1300:Nlrp3 UTSW 11 59555768 missense possibly damaging 0.86
R1414:Nlrp3 UTSW 11 59549531 missense probably benign 0.19
R1622:Nlrp3 UTSW 11 59548476 missense probably damaging 0.99
R1654:Nlrp3 UTSW 11 59543123 missense probably benign 0.03
R1715:Nlrp3 UTSW 11 59543351 missense probably damaging 1.00
R1754:Nlrp3 UTSW 11 59558402 missense possibly damaging 0.80
R1837:Nlrp3 UTSW 11 59548916 missense probably benign 0.00
R1905:Nlrp3 UTSW 11 59549036 missense probably damaging 1.00
R2281:Nlrp3 UTSW 11 59549136 missense possibly damaging 0.70
R4296:Nlrp3 UTSW 11 59549661 missense possibly damaging 0.89
R4305:Nlrp3 UTSW 11 59548010 nonsense probably null
R4540:Nlrp3 UTSW 11 59551899 missense possibly damaging 0.83
R4591:Nlrp3 UTSW 11 59549222 missense probably benign 0.00
R4816:Nlrp3 UTSW 11 59548301 missense probably benign 0.32
R4913:Nlrp3 UTSW 11 59549238 missense probably benign 0.09
R4970:Nlrp3 UTSW 11 59548728 missense probably damaging 1.00
R5051:Nlrp3 UTSW 11 59566199 missense probably benign 0.19
R5112:Nlrp3 UTSW 11 59548728 missense probably damaging 1.00
R5185:Nlrp3 UTSW 11 59565084 missense probably benign 0.05
R5417:Nlrp3 UTSW 11 59549063 missense probably damaging 1.00
R5709:Nlrp3 UTSW 11 59555748 nonsense probably null
R5869:Nlrp3 UTSW 11 59548134 missense probably damaging 1.00
R5898:Nlrp3 UTSW 11 59546852 missense probably benign 0.00
R5953:Nlrp3 UTSW 11 59546791 missense probably benign
R5979:Nlrp3 UTSW 11 59548971 missense probably benign 0.06
R6359:Nlrp3 UTSW 11 59548566 missense probably damaging 0.97
R6723:Nlrp3 UTSW 11 59565192 missense probably damaging 1.00
Z1088:Nlrp3 UTSW 11 59551860 missense possibly damaging 0.67
Posted On2013-07-11