Incidental Mutation 'R9229:Nlrp2'
ID 700090
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9229 (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 5304052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 953 (T953S)
Ref Sequence ENSEMBL: ENSMUSP00000045077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045022] [ENSMUST00000207520] [ENSMUST00000207685]
AlphaFold Q4PLS0
Predicted Effect possibly damaging
Transcript: ENSMUST00000045022
AA Change: T953S

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177
AA Change: T953S

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 possibly damaging
Transcript: ENSMUST00000207520
AA Change: T158S

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000207685
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (77/79)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr10 A G 12: 70,990,259 (GRCm39) T104A probably damaging Het
Agbl1 G A 7: 76,774,270 (GRCm39) V1065I unknown Het
Agpat1 G T 17: 34,830,663 (GRCm39) V196L probably null Het
Agxt2 T A 15: 10,409,597 (GRCm39) V499E probably damaging Het
Amy2a1 T A 3: 113,325,955 (GRCm39) probably benign Het
Ankrd35 A G 3: 96,592,215 (GRCm39) T834A probably benign Het
Arhgef18 T A 8: 3,479,314 (GRCm39) S51T probably benign Het
Armc12 A C 17: 28,751,345 (GRCm39) D113A probably benign Het
Azin1 T A 15: 38,490,646 (GRCm39) I436F probably benign Het
B3galnt2 T C 13: 14,166,107 (GRCm39) V334A probably damaging Het
Ccdc68 C T 18: 70,080,203 (GRCm39) H183Y probably benign Het
Cd180 TA TAA 13: 102,841,514 (GRCm39) probably null Het
Cemip A T 7: 83,606,833 (GRCm39) W795R probably damaging Het
Cenpj C T 14: 56,802,176 (GRCm39) E130K possibly damaging Het
Ciao1 G C 2: 127,089,062 (GRCm39) C52W probably damaging Het
Cmya5 A G 13: 93,232,176 (GRCm39) S971P possibly damaging Het
Cnot2 A T 10: 116,384,960 (GRCm39) L9* probably null Het
Coro1c G T 5: 114,003,747 (GRCm39) H91N probably damaging Het
Crbn A T 6: 106,777,017 (GRCm39) M1K probably null Het
Ctsb T A 14: 63,373,112 (GRCm39) W90R probably damaging Het
Ctse A G 1: 131,595,862 (GRCm39) I185V probably damaging Het
Dennd1b G T 1: 138,981,100 (GRCm39) E105* probably null Het
Eif4a3l1 A G 6: 136,306,141 (GRCm39) I201V possibly damaging Het
Exoc5 G A 14: 49,251,710 (GRCm39) Q679* probably null Het
Firrm A T 1: 163,794,659 (GRCm39) W512R probably damaging Het
Gabrg3 G A 7: 56,374,268 (GRCm39) R433C probably damaging Het
Gria2 C A 3: 80,709,689 (GRCm39) M1I probably null Het
H1f6 T C 13: 23,880,029 (GRCm39) S61P probably damaging Het
Hoxb6 A T 11: 96,191,645 (GRCm39) Q189L probably damaging Het
Hoxd10 A G 2: 74,524,600 (GRCm39) N304S possibly damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Htra4 A T 8: 25,528,557 (GRCm39) C112S probably damaging Het
Ide T C 19: 37,261,598 (GRCm39) T715A Het
Ipo13 A T 4: 117,758,801 (GRCm39) I688N probably damaging Het
Irs2 A C 8: 11,057,400 (GRCm39) L344R probably damaging Het
Kat6a A G 8: 23,429,987 (GRCm39) T1781A unknown Het
Lin7a G T 10: 107,247,844 (GRCm39) V172L probably damaging Het
Lpcat1 G T 13: 73,653,650 (GRCm39) E282D probably damaging Het
Mcf2l A G 8: 13,063,584 (GRCm39) T963A probably benign Het
Mfsd14a G A 3: 116,439,118 (GRCm39) A128V probably benign Het
Mfsd6 C G 1: 52,747,903 (GRCm39) G321R probably damaging Het
Mill2 C T 7: 18,590,475 (GRCm39) T185I probably damaging Het
Mpped1 C T 15: 83,738,673 (GRCm39) T270I possibly damaging Het
Mrtfb G T 16: 13,230,185 (GRCm39) A957S possibly damaging Het
Myh9 T A 15: 77,675,017 (GRCm39) Y300F possibly damaging Het
Nlrp4e T A 7: 23,020,799 (GRCm39) S429T probably benign Het
Nphp3 T A 9: 103,913,376 (GRCm39) Y1003N probably damaging Het
Nrap T C 19: 56,310,339 (GRCm39) K1588R probably benign Het
Odad2 C A 18: 7,127,324 (GRCm39) R963L possibly damaging Het
Or10ag56 G A 2: 87,139,165 (GRCm39) V31I probably benign Het
Or5b124 T A 19: 13,611,414 (GRCm39) V313D probably damaging Het
Pam A G 1: 97,753,660 (GRCm39) V870A probably benign Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pierce1 C A 2: 28,352,390 (GRCm39) M124I probably damaging Het
Plin3 A T 17: 56,591,315 (GRCm39) V155E probably damaging Het
Pmepa1 T C 2: 173,117,962 (GRCm39) T6A probably benign Het
Pnpla7 G A 2: 24,873,503 (GRCm39) V170I probably damaging Het
Pramel34 A T 5: 93,784,089 (GRCm39) C458* probably null Het
Ptprz1 A G 6: 22,986,283 (GRCm39) H361R probably null Het
Pvalb T A 15: 78,086,767 (GRCm39) I50F possibly damaging Het
Relch A T 1: 105,614,709 (GRCm39) I218F possibly damaging Het
Rhag G A 17: 41,142,081 (GRCm39) A175T probably damaging Het
Slc24a4 T C 12: 102,200,983 (GRCm39) V291A possibly damaging Het
Slc9b2 G A 3: 135,042,295 (GRCm39) E525K probably benign Het
Smg7 A G 1: 152,720,971 (GRCm39) F747S possibly damaging Het
Sorcs1 T G 19: 50,141,300 (GRCm39) I1144L probably benign Het
Sox1 A T 8: 12,447,390 (GRCm39) I344F possibly damaging Het
Speer4e2 A T 5: 15,027,718 (GRCm39) S53T probably benign Het
Spta1 A T 1: 174,067,750 (GRCm39) E2059V probably damaging Het
Sva T A 6: 42,017,050 (GRCm39) N52K possibly damaging Het
Sva T A 6: 42,017,052 (GRCm39) M53K probably benign Het
Thsd7b A G 1: 129,849,027 (GRCm39) Y913C probably damaging Het
Tiam1 A G 16: 89,634,719 (GRCm39) S864P possibly damaging Het
Tma16 A G 8: 66,936,779 (GRCm39) V16A probably benign Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Treml1 A G 17: 48,673,774 (GRCm39) S262G probably benign Het
Ttn A T 2: 76,597,797 (GRCm39) D19705E probably benign Het
Utp20 A G 10: 88,594,239 (GRCm39) L2162P possibly damaging Het
Vmn2r60 A G 7: 41,791,723 (GRCm39) I549V possibly damaging Het
Xpo4 T C 14: 57,851,156 (GRCm39) N329S probably benign Het
Zfp879 T A 11: 50,723,886 (GRCm39) H390L probably damaging Het
Zranb1 C T 7: 132,583,117 (GRCm39) S512F probably damaging Het
Zswim8 A G 14: 20,766,393 (GRCm39) H847R 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
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
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'- TCGGAAATAGTGGGATCACACC -3'
(R):5'- AAATGGCATCCAGTTCCCC -3'

Sequencing Primer
(F):5'- GTGGGATCACACCTAAGCATTTGC -3'
(R):5'- GTTCCCCCATGAGAAAACTTTC -3'
Posted On 2022-02-07