Incidental Mutation 'R1942:Nlrp2'
ID 216286
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 039960-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1942 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 5301546-5354034 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5325447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 742 (T742S)
Ref Sequence ENSEMBL: ENSMUSP00000045077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045022] [ENSMUST00000207520] [ENSMUST00000207685]
AlphaFold Q4PLS0
Predicted Effect probably damaging
Transcript: ENSMUST00000045022
AA Change: T742S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177
AA Change: T742S

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 damaging
Transcript: ENSMUST00000207520
AA Change: T4S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000207685
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.7%
Validation Efficiency 100% (75/75)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A T 15: 81,949,625 (GRCm39) Y1174F probably damaging Het
Ahnak A G 19: 8,992,447 (GRCm39) E4577G probably damaging Het
Anapc4 T C 5: 53,004,056 (GRCm39) V291A probably benign Het
Apba2 A G 7: 64,345,218 (GRCm39) E136G possibly damaging Het
Arhgap20 C A 9: 51,742,998 (GRCm39) Q279K probably benign Het
B3galnt1 A T 3: 69,483,258 (GRCm39) M1K probably null Het
C4bp C A 1: 130,583,804 (GRCm39) probably benign Het
Catsperg1 G A 7: 28,906,232 (GRCm39) T157I possibly damaging Het
Cfap90 A C 13: 68,761,090 (GRCm39) I171L probably benign Het
Chrm1 T A 19: 8,655,637 (GRCm39) M114K probably damaging Het
Clasp1 A G 1: 118,429,078 (GRCm39) E329G possibly damaging Het
Clrn2 A C 5: 45,611,337 (GRCm39) Y62S probably benign Het
Col12a1 T G 9: 79,542,748 (GRCm39) D2339A probably damaging Het
Copa T A 1: 171,939,455 (GRCm39) L564Q probably damaging Het
Cpeb2 C A 5: 43,392,596 (GRCm39) probably benign Het
Dhx57 A T 17: 80,572,573 (GRCm39) M647K probably damaging Het
Diaph3 C T 14: 87,378,556 (GRCm39) probably benign Het
Eomes A G 9: 118,313,716 (GRCm39) D587G probably benign Het
Gm5142 T A 14: 59,416,156 (GRCm39) M1L probably benign Het
Gnl2 A G 4: 124,923,957 (GRCm39) I12V probably benign Het
Gprin1 C T 13: 54,887,752 (GRCm39) C174Y probably benign Het
Grin2b A T 6: 135,709,730 (GRCm39) V1272E possibly damaging Het
Hdac9 A G 12: 34,479,544 (GRCm39) L227S probably damaging Het
Helz T A 11: 107,493,318 (GRCm39) L247Q probably benign Het
Hs6st1 T C 1: 36,107,803 (GRCm39) V22A probably benign Het
Hspg2 C A 4: 137,269,863 (GRCm39) A2304E possibly damaging Het
Htr3a T C 9: 48,819,911 (GRCm39) Y73C probably damaging Het
Il1rap A C 16: 26,541,205 (GRCm39) E482A probably damaging Het
Itsn2 T A 12: 4,689,670 (GRCm39) L581* probably null Het
Msmb A G 14: 31,870,034 (GRCm39) E2G probably benign Het
Muc19 T C 15: 91,776,666 (GRCm39) noncoding transcript Het
Muc4 A C 16: 32,569,460 (GRCm39) L173F probably damaging Het
Muc5b A T 7: 141,411,421 (GRCm39) S1456C unknown Het
Mylip A T 13: 45,560,172 (GRCm39) I203F probably damaging Het
Nckap5 A T 1: 125,952,039 (GRCm39) D1504E probably damaging Het
Neil1 C G 9: 57,053,891 (GRCm39) R143P probably benign Het
Nme8 A G 13: 19,859,978 (GRCm39) V214A probably damaging Het
Nsun7 C T 5: 66,441,588 (GRCm39) T419I probably benign Het
Nup210l G A 3: 90,058,544 (GRCm39) E648K probably benign Het
Or10g6 T A 9: 39,934,031 (GRCm39) L114H probably damaging Het
Or10g6 T C 9: 39,934,048 (GRCm39) Y120H probably damaging Het
Or2y1c T C 11: 49,360,981 (GRCm39) M1T probably null Het
Or8s2 A G 15: 98,276,445 (GRCm39) L182P probably damaging Het
Parp11 A C 6: 127,447,663 (GRCm39) probably null Het
Pomgnt1 G T 4: 116,012,472 (GRCm39) probably null Het
Ppp1r14c T C 10: 3,413,417 (GRCm39) I150T probably damaging Het
Psd4 A G 2: 24,295,805 (GRCm39) E908G probably damaging Het
Psmd6 A T 14: 14,116,442 (GRCm38) V91E probably damaging Het
Ptk2b A T 14: 66,406,830 (GRCm39) V634D probably damaging Het
Rapgef6 A G 11: 54,548,089 (GRCm39) I753V possibly damaging Het
Rbm45 G A 2: 76,205,823 (GRCm39) probably null Het
Ric1 A G 19: 29,578,416 (GRCm39) probably benign Het
Sh3rf2 A G 18: 42,282,689 (GRCm39) K416E probably damaging Het
Six5 C T 7: 18,830,858 (GRCm39) A495V possibly damaging Het
Slc27a6 T A 18: 58,689,870 (GRCm39) M112K probably damaging Het
Slc5a4a T C 10: 75,983,422 (GRCm39) S20P unknown Het
Smg1 A G 7: 117,757,326 (GRCm39) probably benign Het
Sntb2 G A 8: 107,737,984 (GRCm39) A511T probably damaging Het
Stk31 A T 6: 49,416,061 (GRCm39) N622I probably damaging Het
Sulf1 T C 1: 12,918,397 (GRCm39) F38S probably damaging Het
Szt2 G T 4: 118,249,817 (GRCm39) T521K probably benign Het
Terf1 G T 1: 15,876,038 (GRCm39) R46I probably benign Het
Tmem245 A G 4: 56,923,511 (GRCm39) probably benign Het
Tmigd1 T C 11: 76,804,905 (GRCm39) probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Umod A G 7: 119,076,155 (GRCm39) Y204H probably damaging Het
Vcan T A 13: 89,851,543 (GRCm39) Q1139L probably benign Het
Vmn1r85 T A 7: 12,818,668 (GRCm39) T159S possibly damaging Het
Vmn2r103 T A 17: 20,032,562 (GRCm39) S779T probably benign Het
Vmn2r27 C T 6: 124,200,722 (GRCm39) A412T probably damaging Het
Zc3h12d A C 10: 7,729,077 (GRCm39) D147A probably damaging Het
Zfp800 A T 6: 28,243,272 (GRCm39) D564E probably benign Het
Zfp932 A G 5: 110,154,853 (GRCm39) E17G 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
R1866:Nlrp2 UTSW 7 5,330,715 (GRCm39) nonsense probably null
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'- TCCCTCTAACTTAGGTTTGCTATATAG -3'
(R):5'- ATGCAAGCATACTGTCTCCC -3'

Sequencing Primer
(F):5'- GCAGGCTGGATTTTTCAG -3'
(R):5'- TAACTACATGGGTCCCTGGGATC -3'
Posted On 2014-08-01