Incidental Mutation 'IGL02399:Nlrp2'
ID291828
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nlrp2
Ensembl Gene ENSMUSG00000035177
Gene NameNLR family, pyrin domain containing 2
SynonymsNbs1, Pan1, PYPAF2, E330007A02Rik, Nalp2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02399
Quality Score
Status
Chromosome7
Chromosomal Location5298547-5351035 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 5328810 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 196 (A196T)
Ref Sequence ENSEMBL: ENSMUSP00000045077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045022]
Predicted Effect probably damaging
Transcript: ENSMUST00000045022
AA Change: A196T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177
AA Change: A196T

DomainStartEndE-ValueType
PYRIN 7 90 2.88e-17 SMART
Pfam:NACHT 180 348 6.9e-30 PFAM
internal_repeat_1 676 722 1.74e-5 PROSPERO
LRR 796 823 1.26e1 SMART
LRR 825 852 1.18e1 SMART
LRR 853 880 5.81e-2 SMART
LRR 882 909 3.39e-3 SMART
LRR 910 937 5.06e-2 SMART
LRR 939 966 5.23e0 SMART
LRR 967 994 3.58e-2 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). Members of this gene family are thought to be important regulators of immune responses. This gene product interacts with components of the IkB kinase (IKK) complex, and can regulate both caspase-1 and NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) activity. The pyrin domain is necessary and sufficient for suppression of NF-kB activity. An allelic variant (rs147585490) has been found that is incapable of blocking the transcriptional activity of NF-kB. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 C T 2: 150,858,493 probably benign Het
Adarb1 G A 10: 77,295,754 P624S probably benign Het
Afg3l2 A T 18: 67,429,040 F322I possibly damaging Het
Arhgap23 A G 11: 97,491,005 probably benign Het
Armc4 G T 18: 7,285,719 Q215K probably benign Het
Atp13a1 A G 8: 69,807,101 N1114S probably damaging Het
C3ar1 T C 6: 122,849,879 N460D probably benign Het
Cacna1e A G 1: 154,403,747 Y1988H probably damaging Het
Calr T C 8: 84,842,786 probably benign Het
D5Ertd579e A G 5: 36,616,185 S289P probably damaging Het
Erbb4 G A 1: 68,042,437 probably benign Het
Fam98a A G 17: 75,538,941 probably benign Het
Gm3739 A T 14: 7,299,405 D83E possibly damaging Het
Gm5420 A T 10: 21,691,172 noncoding transcript Het
Heatr5b A G 17: 78,827,967 V245A probably damaging Het
Kptn C A 7: 16,127,113 probably benign Het
Llgl2 T C 11: 115,844,835 C86R probably damaging Het
Lrr1 T A 12: 69,168,891 C12* probably null Het
Mcf2 T C X: 60,135,452 D255G probably damaging Het
Med13 A T 11: 86,283,945 probably benign Het
Mthfd1 C T 12: 76,317,632 T735M probably damaging Het
Nnmt T C 9: 48,603,538 I60V probably damaging Het
Olfr1215 T A 2: 89,002,163 T42S probably benign Het
Olfr522 A T 7: 140,162,600 S117T probably benign Het
P2rx3 T C 2: 85,023,227 I140V probably benign Het
Patj A G 4: 98,591,936 N1293D probably damaging Het
Pitpnm2 G A 5: 124,140,758 probably benign Het
Ppp1r26 T G 2: 28,453,280 V974G probably benign Het
Prrc2b T A 2: 32,226,961 L1376* probably null Het
Rab33a T A X: 48,519,707 I36N probably damaging Het
Rab3gap1 A T 1: 127,928,103 N493I possibly damaging Het
Scara3 C A 14: 65,933,110 G107* probably null Het
Siglec1 T C 2: 131,071,178 E1606G probably benign Het
Skint9 A T 4: 112,389,250 Y222N possibly damaging Het
Slc47a1 A T 11: 61,363,058 I185N probably damaging Het
Slc47a2 C A 11: 61,302,194 probably benign Het
Slc4a2 A G 5: 24,434,713 I506V probably damaging Het
Slc9a4 A C 1: 40,600,782 I245L probably benign Het
Smarcb1 T C 10: 75,897,494 T357A probably damaging Het
Spata31d1d A G 13: 59,730,140 probably benign Het
Stox2 T A 8: 47,186,538 I874F probably damaging Het
Taar7b A T 10: 24,000,152 I72F probably damaging Het
Tacc2 G A 7: 130,623,399 V605I probably benign Het
Tef T C 15: 81,815,100 L34P probably damaging Het
Trak2 A G 1: 58,910,045 V532A probably benign Het
Usp13 T A 3: 32,919,060 D795E probably damaging Het
Vmn1r32 T A 6: 66,552,929 I288F probably benign Het
Vmn1r75 T C 7: 11,881,166 I275T possibly damaging Het
Zfp871 A T 17: 32,774,355 F615L probably benign Het
Zfp941 G A 7: 140,812,699 T249M probably benign Het
Zhx1 T C 15: 58,053,741 I370V probably damaging Het
Other mutations in Nlrp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Nlrp2 APN 7 5337548 missense probably benign 0.00
IGL00545:Nlrp2 APN 7 5328252 missense possibly damaging 0.89
IGL01311:Nlrp2 APN 7 5319239 missense possibly damaging 0.92
IGL01345:Nlrp2 APN 7 5317492 missense probably benign 0.16
IGL01583:Nlrp2 APN 7 5337770 missense probably damaging 1.00
IGL01659:Nlrp2 APN 7 5328035 missense probably damaging 1.00
IGL02240:Nlrp2 APN 7 5327823 missense probably damaging 1.00
IGL02353:Nlrp2 APN 7 5337599 missense probably damaging 1.00
IGL02360:Nlrp2 APN 7 5337599 missense probably damaging 1.00
IGL02441:Nlrp2 APN 7 5335567 critical splice donor site probably null
IGL02588:Nlrp2 APN 7 5327552 nonsense probably null
IGL02803:Nlrp2 APN 7 5328318 missense probably damaging 1.00
IGL02968:Nlrp2 APN 7 5301025 missense possibly damaging 0.81
IGL03342:Nlrp2 APN 7 5317483 missense probably damaging 1.00
R0027:Nlrp2 UTSW 7 5322448 missense probably damaging 1.00
R0051:Nlrp2 UTSW 7 5322334 unclassified probably benign
R0079:Nlrp2 UTSW 7 5327730 missense possibly damaging 0.81
R0130:Nlrp2 UTSW 7 5322418 missense possibly damaging 0.77
R0157:Nlrp2 UTSW 7 5308770 missense possibly damaging 0.88
R0201:Nlrp2 UTSW 7 5328329 missense probably benign 0.00
R0276:Nlrp2 UTSW 7 5328109 missense probably benign 0.00
R0288:Nlrp2 UTSW 7 5328545 missense probably benign 0.19
R0332:Nlrp2 UTSW 7 5317630 missense probably damaging 1.00
R0724:Nlrp2 UTSW 7 5319222 missense probably damaging 1.00
R1241:Nlrp2 UTSW 7 5328431 missense probably damaging 1.00
R1355:Nlrp2 UTSW 7 5327491 missense possibly damaging 0.81
R1392:Nlrp2 UTSW 7 5329015 splice site probably benign
R1470:Nlrp2 UTSW 7 5300951 missense probably benign 0.18
R1470:Nlrp2 UTSW 7 5300951 missense probably benign 0.18
R1563:Nlrp2 UTSW 7 5308725 missense probably damaging 1.00
R1866:Nlrp2 UTSW 7 5327716 nonsense probably null
R1942:Nlrp2 UTSW 7 5322448 missense probably damaging 1.00
R1959:Nlrp2 UTSW 7 5327738 missense probably damaging 1.00
R1960:Nlrp2 UTSW 7 5327738 missense probably damaging 1.00
R1961:Nlrp2 UTSW 7 5327738 missense probably damaging 1.00
R2072:Nlrp2 UTSW 7 5325006 missense probably damaging 1.00
R2161:Nlrp2 UTSW 7 5325042 missense probably damaging 1.00
R2190:Nlrp2 UTSW 7 5319238 missense possibly damaging 0.95
R2243:Nlrp2 UTSW 7 5335598 missense probably benign 0.03
R2277:Nlrp2 UTSW 7 5328129 missense probably benign
R2334:Nlrp2 UTSW 7 5337535 missense probably benign 0.39
R3030:Nlrp2 UTSW 7 5327748 missense probably damaging 1.00
R3404:Nlrp2 UTSW 7 5319287 missense probably benign 0.01
R3941:Nlrp2 UTSW 7 5327552 nonsense probably null
R4021:Nlrp2 UTSW 7 5325012 missense probably benign 0.40
R4518:Nlrp2 UTSW 7 5325056 missense possibly damaging 0.85
R4666:Nlrp2 UTSW 7 5319189 missense probably benign 0.18
R4767:Nlrp2 UTSW 7 5328024 missense probably damaging 1.00
R4827:Nlrp2 UTSW 7 5328951 missense possibly damaging 0.60
R4873:Nlrp2 UTSW 7 5298859 missense probably benign 0.09
R4875:Nlrp2 UTSW 7 5298859 missense probably benign 0.09
R5020:Nlrp2 UTSW 7 5328077 missense probably damaging 1.00
R5293:Nlrp2 UTSW 7 5327615 missense probably damaging 1.00
R5310:Nlrp2 UTSW 7 5325008 missense probably benign 0.00
R5336:Nlrp2 UTSW 7 5328119 missense probably benign
R5390:Nlrp2 UTSW 7 5300909 missense probably benign 0.00
R5864:Nlrp2 UTSW 7 5322381 missense probably damaging 1.00
R5913:Nlrp2 UTSW 7 5324903 unclassified probably null
R6173:Nlrp2 UTSW 7 5337809 missense probably damaging 0.96
R6274:Nlrp2 UTSW 7 5317555 missense probably damaging 1.00
R6303:Nlrp2 UTSW 7 5337761 missense probably damaging 1.00
R6343:Nlrp2 UTSW 7 5300926 missense possibly damaging 0.82
R6704:Nlrp2 UTSW 7 5325041 nonsense probably null
R6814:Nlrp2 UTSW 7 5308710 missense probably benign 0.01
R6872:Nlrp2 UTSW 7 5308710 missense probably benign 0.01
R7023:Nlrp2 UTSW 7 5328229 nonsense probably null
R7028:Nlrp2 UTSW 7 5328572 missense possibly damaging 0.93
R7109:Nlrp2 UTSW 7 5328617 missense probably damaging 1.00
R7203:Nlrp2 UTSW 7 5317534 missense probably damaging 1.00
R7322:Nlrp2 UTSW 7 5308645 missense possibly damaging 0.94
R7339:Nlrp2 UTSW 7 5327628 missense possibly damaging 0.95
R7573:Nlrp2 UTSW 7 5317469 critical splice donor site probably null
R7657:Nlrp2 UTSW 7 5319168 missense probably benign 0.01
X0027:Nlrp2 UTSW 7 5327642 missense probably benign 0.03
Posted On2015-04-16