Incidental Mutation 'R1866:Nlrp2'
ID 208721
Institutional Source Beutler Lab
Gene Symbol Nlrp2
Ensembl Gene ENSMUSG00000035177
Gene Name NLR family, pyrin domain containing 2
Synonyms Pan1, Nbs1, E330007A02Rik, PYPAF2, Nalp2
MMRRC Submission 039889-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1866 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 5301546-5354034 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 5330715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 560 (C560*)
Ref Sequence ENSEMBL: ENSMUSP00000045077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045022]
AlphaFold Q4PLS0
Predicted Effect probably null
Transcript: ENSMUST00000045022
AA Change: C560*
SMART Domains Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177
AA Change: C560*

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
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.6%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apba1 A T 19: 23,870,195 (GRCm39) E9V probably benign Het
Armc8 T A 9: 99,418,333 (GRCm39) T32S probably benign Het
Atr T A 9: 95,752,658 (GRCm39) probably null Het
Blm A G 7: 80,143,862 (GRCm39) L859P probably benign Het
Cacna2d3 A T 14: 28,691,171 (GRCm39) F51L probably damaging Het
Cdcp2 A G 4: 106,964,197 (GRCm39) N349S probably damaging Het
Cfap57 G A 4: 118,457,124 (GRCm39) H442Y possibly damaging Het
Chrm3 A G 13: 9,928,517 (GRCm39) L173P probably damaging Het
Cpb1 C G 3: 20,317,920 (GRCm39) M201I probably benign Het
Dgcr8 A T 16: 18,076,178 (GRCm39) N2K probably damaging Het
Dnah3 A T 7: 119,528,079 (GRCm39) probably null Het
Dnah6 T A 6: 73,077,071 (GRCm39) Q2398L probably benign Het
Dpep2 A T 8: 106,716,080 (GRCm39) probably null Het
Eif2ak4 C A 2: 118,303,142 (GRCm39) T1504K probably damaging Het
Exoc6b A G 6: 84,828,896 (GRCm39) V496A probably damaging Het
Fam174a A C 1: 95,241,620 (GRCm39) S27R probably benign Het
Fat2 T A 11: 55,182,840 (GRCm39) Q1339L probably benign Het
Fkbpl T A 17: 34,864,797 (GRCm39) D188E possibly damaging Het
Focad A G 4: 88,325,402 (GRCm39) D89G possibly damaging Het
Fstl4 C A 11: 53,077,225 (GRCm39) Q661K probably benign Het
Gck T C 11: 5,853,253 (GRCm39) Y289C probably benign Het
Gm16181 T A 17: 35,442,913 (GRCm39) probably benign Het
Herc1 G A 9: 66,358,073 (GRCm39) G2385S probably damaging Het
Igfn1 T C 1: 135,902,606 (GRCm39) probably null Het
Il12b T C 11: 44,299,353 (GRCm39) W141R probably damaging Het
Itga6 T A 2: 71,664,414 (GRCm39) S517T probably benign Het
Kank1 A G 19: 25,388,813 (GRCm39) S801G probably benign Het
Klrh1 A G 6: 129,752,343 (GRCm39) probably null Het
Lctl A G 9: 64,039,003 (GRCm39) D205G probably damaging Het
Lhx3 A C 2: 26,093,986 (GRCm39) V79G probably damaging Het
Lrrc9 T C 12: 72,543,912 (GRCm39) I1127T probably damaging Het
Ltbp3 A T 19: 5,797,877 (GRCm39) E505D probably benign Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Map6 A G 7: 98,965,083 (GRCm39) S291G probably damaging Het
Mapk7 A G 11: 61,380,239 (GRCm39) F671L probably benign Het
Mau2 A G 8: 70,484,142 (GRCm39) W149R probably damaging Het
Mb21d2 C T 16: 28,647,267 (GRCm39) V236I possibly damaging Het
Mc5r C G 18: 68,471,741 (GRCm39) probably null Het
Mical1 C A 10: 41,361,466 (GRCm39) P797Q probably benign Het
Mnx1 G A 5: 29,679,043 (GRCm39) R347C unknown Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Npat T A 9: 53,474,416 (GRCm39) L736H probably damaging Het
Nup155 T A 15: 8,145,010 (GRCm39) V147E probably damaging Het
Nxpe2 A G 9: 48,238,121 (GRCm39) F45L probably benign Het
Obscn T C 11: 58,951,741 (GRCm39) D4370G probably benign Het
Or2d3b A G 7: 106,514,273 (GRCm39) I289M probably damaging Het
Or4a79 T C 2: 89,551,550 (GRCm39) K302E probably benign Het
Or4c35 T C 2: 89,808,671 (GRCm39) L183S probably damaging Het
Or4d10 A G 19: 12,051,183 (GRCm39) V271A probably benign Het
Or52n4 A G 7: 104,294,004 (GRCm39) S190P probably benign Het
Or5g23 T A 2: 85,439,188 (GRCm39) H22L probably benign Het
Or8k3 A C 2: 86,059,072 (GRCm39) M81R probably damaging Het
Pcx T C 19: 4,671,249 (GRCm39) I1157T possibly damaging Het
Pias2 T A 18: 77,240,412 (GRCm39) S589R probably benign Het
Plcb1 T C 2: 135,186,093 (GRCm39) F687L probably benign Het
Plk5 G T 10: 80,196,403 (GRCm39) probably null Het
Pnpla2 T A 7: 141,035,329 (GRCm39) Y44N probably damaging Het
Ppp1r12a T A 10: 108,098,292 (GRCm39) D337E possibly damaging Het
Prl2c5 G T 13: 13,365,358 (GRCm39) probably null Het
Prom2 T C 2: 127,378,514 (GRCm39) D460G probably damaging Het
Pros1 A G 16: 62,748,498 (GRCm39) H657R possibly damaging Het
Prune2 A G 19: 17,100,856 (GRCm39) E2120G probably damaging Het
Rap2a T A 14: 120,716,347 (GRCm39) L70Q probably damaging Het
Rbl2 A T 8: 91,839,157 (GRCm39) E858D probably benign Het
Rbm48 T C 5: 3,645,997 (GRCm39) Y69C probably damaging Het
Rgs12 T A 5: 35,123,018 (GRCm39) I267N probably damaging Het
Rpusd2 G T 2: 118,865,728 (GRCm39) A142S probably benign Het
Rspo2 A T 15: 42,939,332 (GRCm39) W153R probably damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Serinc5 T A 13: 92,842,771 (GRCm39) M407K probably damaging Het
Slain2 T C 5: 73,114,665 (GRCm39) S299P probably damaging Het
Slc17a4 A G 13: 24,084,528 (GRCm39) Y419H possibly damaging Het
Slc1a6 T A 10: 78,627,183 (GRCm39) D173E probably damaging Het
Slc22a19 A T 19: 7,688,506 (GRCm39) I18N probably damaging Het
Slc37a3 A T 6: 39,336,902 (GRCm39) F91L probably damaging Het
Spag5 C A 11: 78,195,281 (GRCm39) T196K possibly damaging Het
Susd2 G T 10: 75,475,566 (GRCm39) A326D probably damaging Het
Syna G T 5: 134,588,769 (GRCm39) A60D probably damaging Het
Tchh A T 3: 93,355,067 (GRCm39) E1502D unknown Het
Tecta T C 9: 42,303,320 (GRCm39) H104R probably damaging Het
Tmed1 T C 9: 21,420,387 (GRCm39) D102G probably damaging Het
Trip12 T C 1: 84,722,781 (GRCm39) D128G probably damaging Het
Uroc1 A G 6: 90,338,506 (GRCm39) M656V probably benign Het
Usp47 T A 7: 111,701,077 (GRCm39) V1096D possibly damaging Het
Utp20 T A 10: 88,598,632 (GRCm39) K115* probably null Het
Vmn2r19 G T 6: 123,308,597 (GRCm39) probably null Het
Vmn2r86 A T 10: 130,282,255 (GRCm39) V787D probably damaging Het
Vmn2r87 A T 10: 130,308,441 (GRCm39) I599N possibly damaging Het
Vwf A G 6: 125,644,492 (GRCm39) D2449G possibly damaging Het
Zbtb7c T A 18: 76,269,977 (GRCm39) C22S probably benign Het
Zc3h7a A G 16: 10,965,168 (GRCm39) I655T possibly damaging Het
Zfp764l1 A G 7: 126,992,503 (GRCm39) W36R probably damaging Het
Other mutations in Nlrp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Nlrp2 APN 7 5,340,547 (GRCm39) missense probably benign 0.00
IGL00545:Nlrp2 APN 7 5,331,251 (GRCm39) missense possibly damaging 0.89
IGL01311:Nlrp2 APN 7 5,322,238 (GRCm39) missense possibly damaging 0.92
IGL01345:Nlrp2 APN 7 5,320,491 (GRCm39) missense probably benign 0.16
IGL01583:Nlrp2 APN 7 5,340,769 (GRCm39) missense probably damaging 1.00
IGL01659:Nlrp2 APN 7 5,331,034 (GRCm39) missense probably damaging 1.00
IGL02240:Nlrp2 APN 7 5,330,822 (GRCm39) missense probably damaging 1.00
IGL02353:Nlrp2 APN 7 5,340,598 (GRCm39) missense probably damaging 1.00
IGL02360:Nlrp2 APN 7 5,340,598 (GRCm39) missense probably damaging 1.00
IGL02399:Nlrp2 APN 7 5,331,809 (GRCm39) missense probably damaging 1.00
IGL02441:Nlrp2 APN 7 5,338,566 (GRCm39) critical splice donor site probably null
IGL02588:Nlrp2 APN 7 5,330,551 (GRCm39) nonsense probably null
IGL02803:Nlrp2 APN 7 5,331,317 (GRCm39) missense probably damaging 1.00
IGL02968:Nlrp2 APN 7 5,304,024 (GRCm39) missense possibly damaging 0.81
IGL03342:Nlrp2 APN 7 5,320,482 (GRCm39) missense probably damaging 1.00
BB006:Nlrp2 UTSW 7 5,330,498 (GRCm39) missense probably damaging 1.00
BB016:Nlrp2 UTSW 7 5,330,498 (GRCm39) missense probably damaging 1.00
R0027:Nlrp2 UTSW 7 5,325,447 (GRCm39) missense probably damaging 1.00
R0051:Nlrp2 UTSW 7 5,325,333 (GRCm39) unclassified probably benign
R0079:Nlrp2 UTSW 7 5,330,729 (GRCm39) missense possibly damaging 0.81
R0130:Nlrp2 UTSW 7 5,325,417 (GRCm39) missense possibly damaging 0.77
R0157:Nlrp2 UTSW 7 5,311,769 (GRCm39) missense possibly damaging 0.88
R0201:Nlrp2 UTSW 7 5,331,328 (GRCm39) missense probably benign 0.00
R0276:Nlrp2 UTSW 7 5,331,108 (GRCm39) missense probably benign 0.00
R0288:Nlrp2 UTSW 7 5,331,544 (GRCm39) missense probably benign 0.19
R0332:Nlrp2 UTSW 7 5,320,629 (GRCm39) missense probably damaging 1.00
R0724:Nlrp2 UTSW 7 5,322,221 (GRCm39) missense probably damaging 1.00
R1241:Nlrp2 UTSW 7 5,331,430 (GRCm39) missense probably damaging 1.00
R1355:Nlrp2 UTSW 7 5,330,490 (GRCm39) missense possibly damaging 0.81
R1392:Nlrp2 UTSW 7 5,332,014 (GRCm39) splice site probably benign
R1470:Nlrp2 UTSW 7 5,303,950 (GRCm39) missense probably benign 0.18
R1470:Nlrp2 UTSW 7 5,303,950 (GRCm39) missense probably benign 0.18
R1563:Nlrp2 UTSW 7 5,311,724 (GRCm39) missense probably damaging 1.00
R1942:Nlrp2 UTSW 7 5,325,447 (GRCm39) missense probably damaging 1.00
R1959:Nlrp2 UTSW 7 5,330,737 (GRCm39) missense probably damaging 1.00
R1960:Nlrp2 UTSW 7 5,330,737 (GRCm39) missense probably damaging 1.00
R1961:Nlrp2 UTSW 7 5,330,737 (GRCm39) missense probably damaging 1.00
R2072:Nlrp2 UTSW 7 5,328,005 (GRCm39) missense probably damaging 1.00
R2161:Nlrp2 UTSW 7 5,328,041 (GRCm39) missense probably damaging 1.00
R2190:Nlrp2 UTSW 7 5,322,237 (GRCm39) missense possibly damaging 0.95
R2243:Nlrp2 UTSW 7 5,338,597 (GRCm39) missense probably benign 0.03
R2277:Nlrp2 UTSW 7 5,331,128 (GRCm39) missense probably benign
R2334:Nlrp2 UTSW 7 5,340,534 (GRCm39) missense probably benign 0.39
R3030:Nlrp2 UTSW 7 5,330,747 (GRCm39) missense probably damaging 1.00
R3404:Nlrp2 UTSW 7 5,322,286 (GRCm39) missense probably benign 0.01
R3941:Nlrp2 UTSW 7 5,330,551 (GRCm39) nonsense probably null
R4021:Nlrp2 UTSW 7 5,328,011 (GRCm39) missense probably benign 0.40
R4518:Nlrp2 UTSW 7 5,328,055 (GRCm39) missense possibly damaging 0.85
R4666:Nlrp2 UTSW 7 5,322,188 (GRCm39) missense probably benign 0.18
R4767:Nlrp2 UTSW 7 5,331,023 (GRCm39) missense probably damaging 1.00
R4827:Nlrp2 UTSW 7 5,331,950 (GRCm39) missense possibly damaging 0.60
R4873:Nlrp2 UTSW 7 5,301,858 (GRCm39) missense probably benign 0.09
R4875:Nlrp2 UTSW 7 5,301,858 (GRCm39) missense probably benign 0.09
R5020:Nlrp2 UTSW 7 5,331,076 (GRCm39) missense probably damaging 1.00
R5293:Nlrp2 UTSW 7 5,330,614 (GRCm39) missense probably damaging 1.00
R5310:Nlrp2 UTSW 7 5,328,007 (GRCm39) missense probably benign 0.00
R5336:Nlrp2 UTSW 7 5,331,118 (GRCm39) missense probably benign
R5390:Nlrp2 UTSW 7 5,303,908 (GRCm39) missense probably benign 0.00
R5864:Nlrp2 UTSW 7 5,325,380 (GRCm39) missense probably damaging 1.00
R5913:Nlrp2 UTSW 7 5,327,902 (GRCm39) splice site probably null
R6173:Nlrp2 UTSW 7 5,340,808 (GRCm39) missense probably damaging 0.96
R6274:Nlrp2 UTSW 7 5,320,554 (GRCm39) missense probably damaging 1.00
R6303:Nlrp2 UTSW 7 5,340,760 (GRCm39) missense probably damaging 1.00
R6343:Nlrp2 UTSW 7 5,303,925 (GRCm39) missense possibly damaging 0.82
R6704:Nlrp2 UTSW 7 5,328,040 (GRCm39) nonsense probably null
R6814:Nlrp2 UTSW 7 5,311,709 (GRCm39) missense probably benign 0.01
R6872:Nlrp2 UTSW 7 5,311,709 (GRCm39) missense probably benign 0.01
R7023:Nlrp2 UTSW 7 5,331,228 (GRCm39) nonsense probably null
R7028:Nlrp2 UTSW 7 5,331,571 (GRCm39) missense possibly damaging 0.93
R7109:Nlrp2 UTSW 7 5,331,616 (GRCm39) missense probably damaging 1.00
R7203:Nlrp2 UTSW 7 5,320,533 (GRCm39) missense probably damaging 1.00
R7322:Nlrp2 UTSW 7 5,311,644 (GRCm39) missense possibly damaging 0.94
R7339:Nlrp2 UTSW 7 5,330,627 (GRCm39) missense possibly damaging 0.95
R7573:Nlrp2 UTSW 7 5,320,468 (GRCm39) critical splice donor site probably null
R7657:Nlrp2 UTSW 7 5,322,167 (GRCm39) missense probably benign 0.01
R7929:Nlrp2 UTSW 7 5,330,498 (GRCm39) missense probably damaging 1.00
R7964:Nlrp2 UTSW 7 5,331,527 (GRCm39) missense probably damaging 1.00
R8097:Nlrp2 UTSW 7 5,330,650 (GRCm39) missense probably damaging 1.00
R8276:Nlrp2 UTSW 7 5,320,494 (GRCm39) missense probably benign 0.40
R8785:Nlrp2 UTSW 7 5,330,548 (GRCm39) missense probably damaging 0.99
R8798:Nlrp2 UTSW 7 5,330,887 (GRCm39) missense possibly damaging 0.86
R8982:Nlrp2 UTSW 7 5,327,978 (GRCm39) missense probably damaging 1.00
R9030:Nlrp2 UTSW 7 5,325,457 (GRCm39) missense probably null 0.00
R9038:Nlrp2 UTSW 7 5,330,478 (GRCm39) missense probably benign 0.14
R9149:Nlrp2 UTSW 7 5,330,572 (GRCm39) missense probably benign 0.01
R9229:Nlrp2 UTSW 7 5,304,052 (GRCm39) missense possibly damaging 0.81
R9584:Nlrp2 UTSW 7 5,322,215 (GRCm39) missense probably damaging 1.00
X0027:Nlrp2 UTSW 7 5,330,641 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AGCATGAATGAGGTCAGTGCTG -3'
(R):5'- TCGGTATCCAGCAACTCCTG -3'

Sequencing Primer
(F):5'- GGTTTTCAAATGCAAGGAGATGTCC -3'
(R):5'- CCTGGCTGCAATAATATTTGTTCAGG -3'
Posted On 2014-06-30