Incidental Mutation 'R7657:Nlrp2'
ID 591267
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 045733-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7657 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 5301546-5354034 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5322167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 827 (I827L)
Ref Sequence ENSEMBL: ENSMUSP00000045077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045022] [ENSMUST00000207520] [ENSMUST00000207685]
AlphaFold Q4PLS0
Predicted Effect probably benign
Transcript: ENSMUST00000045022
AA Change: I827L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177
AA Change: I827L

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
Predicted Effect probably benign
Transcript: ENSMUST00000207520
AA Change: I89L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000207685
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (80/80)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,337 (GRCm39) E28G possibly damaging Het
Acot6 G A 12: 84,153,304 (GRCm39) G182D possibly damaging Het
Actl9 A G 17: 33,652,014 (GRCm39) T25A probably benign Het
Adam26b G A 8: 43,974,579 (GRCm39) T141I possibly damaging Het
Agl T C 3: 116,572,812 (GRCm39) H148R Het
Angptl1 A G 1: 156,684,790 (GRCm39) I320V probably benign Het
Arhgef10 C T 8: 15,029,893 (GRCm39) R932C probably damaging Het
Atp13a2 A G 4: 140,719,815 (GRCm39) E91G possibly damaging Het
Bptf T A 11: 106,965,555 (GRCm39) E1213V probably damaging Het
C530025M09Rik A G 2: 149,672,541 (GRCm39) V198A unknown Het
Casd1 A T 6: 4,619,773 (GRCm39) I173F probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Col1a2 A T 6: 4,527,152 (GRCm39) K627M probably null Het
Ctcfl G A 2: 172,955,449 (GRCm39) T271I possibly damaging Het
Dctn2 T C 10: 127,102,383 (GRCm39) Y6H probably damaging Het
Denr T C 5: 124,046,263 (GRCm39) V31A probably damaging Het
Entpd7 T C 19: 43,713,906 (GRCm39) F422L possibly damaging Het
Fastkd5 G C 2: 130,458,176 (GRCm39) P138R probably benign Het
Fmn1 G T 2: 113,355,538 (GRCm39) A758S unknown Het
Fmo2 A G 1: 162,716,413 (GRCm39) V58A probably damaging Het
Fmo6 A G 1: 162,750,285 (GRCm39) I257T probably benign Het
Foxn1 T C 11: 78,256,790 (GRCm39) T302A probably benign Het
Ganab C T 19: 8,884,721 (GRCm39) L175F probably damaging Het
Gga1 A T 15: 78,773,327 (GRCm39) probably null Het
Gjd3 G T 11: 98,873,586 (GRCm39) S86* probably null Het
Gm1330 A G 2: 148,841,154 (GRCm39) probably null Het
Gm18596 A C 10: 77,577,947 (GRCm39) S176A unknown Het
Gnl2 A G 4: 124,923,951 (GRCm39) S10G probably benign Het
Gpsm2 G A 3: 108,608,061 (GRCm39) A239V probably damaging Het
Grik2 T C 10: 49,659,247 (GRCm39) R37G probably benign Het
Grm3 A G 5: 9,561,452 (GRCm39) probably null Het
Gtpbp3 T C 8: 71,943,765 (GRCm39) L216P probably benign Het
Hhla1 T C 15: 65,837,308 (GRCm39) T99A probably damaging Het
Igtp A T 11: 58,097,654 (GRCm39) Q275L probably benign Het
Itga6 G A 2: 71,676,595 (GRCm39) A993T probably benign Het
Jakmip3 T A 7: 138,620,903 (GRCm39) I234N probably damaging Het
Kcnh7 A G 2: 62,566,379 (GRCm39) F851L probably damaging Het
Krr1 A G 10: 111,811,504 (GRCm39) Y66C probably damaging Het
Krt33a T A 11: 99,906,693 (GRCm39) Q94L probably benign Het
Mat1a A T 14: 40,844,476 (GRCm39) K369* probably null Het
Mbd1 T G 18: 74,407,804 (GRCm39) L277R probably damaging Het
Mmp21 C T 7: 133,280,562 (GRCm39) G136D probably benign Het
Mroh3 A G 1: 136,109,532 (GRCm39) Y892H possibly damaging Het
Ncbp3 G A 11: 72,964,193 (GRCm39) R381Q probably damaging Het
Nrip1 T A 16: 76,091,587 (GRCm39) probably null Het
Or2ak4 A T 11: 58,648,755 (GRCm39) D88V probably benign Het
Or4f6 A G 2: 111,839,093 (GRCm39) V146A probably benign Het
Or5w13 C T 2: 87,523,336 (GRCm39) V297I probably damaging Het
Oxt C T 2: 130,418,710 (GRCm39) P107L possibly damaging Het
Pcdhga2 G A 18: 37,803,481 (GRCm39) V442M probably damaging Het
Phtf1 T G 3: 103,876,429 (GRCm39) S10A probably benign Het
Plb1 A C 5: 32,487,211 (GRCm39) N902T probably damaging Het
Plppr3 T C 10: 79,702,272 (GRCm39) I267V probably benign Het
Pms2 C A 5: 143,856,357 (GRCm39) H278Q possibly damaging Het
Pmvk T A 3: 89,376,158 (GRCm39) S154T possibly damaging Het
Polr3b T A 10: 84,491,855 (GRCm39) M338K probably damaging Het
Ppp1r21 T A 17: 88,863,110 (GRCm39) I283N probably damaging Het
Ptprj A T 2: 90,282,501 (GRCm39) probably null Het
Rft1 T A 14: 30,388,724 (GRCm39) L216H probably damaging Het
Rpl3 G A 15: 79,965,258 (GRCm39) P174S probably benign Het
Rtl1 T C 12: 109,561,818 (GRCm39) D7G possibly damaging Het
Slc13a2 A G 11: 78,289,223 (GRCm39) V496A probably damaging Het
Slc14a1 A G 18: 78,156,879 (GRCm39) probably null Het
Slc8a3 T C 12: 81,361,158 (GRCm39) R554G probably damaging Het
Spata31d1b T C 13: 59,863,577 (GRCm39) S242P possibly damaging Het
Spocd1 G A 4: 129,823,535 (GRCm39) V111I Het
Stxbp5l G A 16: 37,030,534 (GRCm39) A479V probably null Het
Tasor2 A G 13: 3,623,777 (GRCm39) S2058P probably damaging Het
Tmem238 C G 7: 4,792,226 (GRCm39) G106R probably damaging Het
Trak1 T G 9: 121,301,652 (GRCm39) Y803D probably damaging Het
Trim5 T C 7: 103,925,884 (GRCm39) S226G possibly damaging Het
Trim6 T A 7: 103,881,068 (GRCm39) D282E possibly damaging Het
Ube2e2 A G 14: 18,586,997 (GRCm38) V121A probably benign Het
Ufd1 T G 16: 18,636,713 (GRCm39) M77R probably benign Het
Unc13c C T 9: 73,441,185 (GRCm39) probably null Het
Wfs1 A G 5: 37,125,578 (GRCm39) S438P probably benign Het
Zbtb6 A C 2: 37,319,087 (GRCm39) D280E probably benign Het
Zfp595 G A 13: 67,465,817 (GRCm39) L152F probably damaging Het
Zfpm2 A G 15: 40,966,671 (GRCm39) E1052G possibly damaging Het
Zmym5 A G 14: 57,041,653 (GRCm39) V150A probably benign 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
R1866:Nlrp2 UTSW 7 5,330,715 (GRCm39) nonsense probably null
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
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'- TACATATAGTACACCCCACTGCTTC -3'
(R):5'- ATTTCTTCCACAGCCTGGG -3'

Sequencing Primer
(F):5'- GCAACTTCTCTTCAGGGTCACAG -3'
(R):5'- TCCACAGCCTGGGATCTTG -3'
Posted On 2019-11-12