Incidental Mutation 'IGL01583:Nlrp2'
ID91420
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? Probably non essential (E-score: 0.136) question?
Stock #IGL01583
Quality Score
Status
Chromosome7
Chromosomal Location5298547-5351035 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 5337770 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 15 (L15Q)
Ref Sequence ENSEMBL: ENSMUSP00000045077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045022]
Predicted Effect probably damaging
Transcript: ENSMUST00000045022
AA Change: L15Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177
AA Change: L15Q

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,296,409 M329K possibly damaging Het
Abce1 G A 8: 79,693,447 T300M probably damaging Het
Acap1 G A 11: 69,881,677 S536L probably damaging Het
Adcy5 C A 16: 35,283,513 probably benign Het
Ap2b1 G T 11: 83,324,611 R127L possibly damaging Het
Asxl3 T G 18: 22,516,597 S548A probably benign Het
Atm G A 9: 53,484,247 probably benign Het
Cep250 T C 2: 155,976,149 V807A probably damaging Het
Ces1g T A 8: 93,306,959 Y445F probably damaging Het
Cnksr3 A G 10: 7,120,512 Y241H probably benign Het
Col9a1 T C 1: 24,185,144 S136P unknown Het
Cux2 C A 5: 121,874,107 G422W probably damaging Het
Cyp1a2 A T 9: 57,682,372 M53K probably benign Het
Ddx20 T C 3: 105,686,670 D123G probably damaging Het
Dock4 T A 12: 40,810,467 L1284* probably null Het
Dpp9 A C 17: 56,211,666 L46R probably benign Het
Elavl1 A T 8: 4,301,699 V139E probably damaging Het
Fndc3b T C 3: 27,428,995 Y1018C probably damaging Het
Fubp1 A G 3: 152,215,624 N78D possibly damaging Het
Fubp3 C T 2: 31,611,743 probably benign Het
Gbx2 C A 1: 89,928,837 R277L probably damaging Het
Gm128 T C 3: 95,240,783 R67G possibly damaging Het
Gpc2 T A 5: 138,275,530 R469W probably damaging Het
Ifi30 G A 8: 70,764,762 probably benign Het
Kbtbd4 T C 2: 90,905,908 S88P probably damaging Het
Kif23 A T 9: 61,935,468 Y216N probably damaging Het
Lgals4 A G 7: 28,841,548 D299G probably damaging Het
Lmx1b A G 2: 33,569,059 S161P probably benign Het
Lrcol1 T A 5: 110,354,578 S107T probably benign Het
Lrrc28 A T 7: 67,545,475 probably null Het
Ncoa4 T C 14: 32,172,927 V42A probably benign Het
Nkd2 C T 13: 73,821,480 S277N probably benign Het
Nynrin T G 14: 55,870,511 L1025R probably damaging Het
Olfr101 C T 17: 37,299,738 R228H probably benign Het
Olfr1134 G T 2: 87,656,413 C169* probably null Het
Piwil4 A T 9: 14,734,487 F152I probably damaging Het
Plod3 T C 5: 136,996,148 S705P probably benign Het
Ppp2r2c T A 5: 36,868,822 M1K probably null Het
Rgs19 T C 2: 181,689,453 E129G probably damaging Het
Rpap2 T A 5: 107,620,195 S223T probably damaging Het
Shox2 T C 3: 66,973,771 probably benign Het
Slc30a4 T C 2: 122,685,217 I370V probably benign Het
Slco1b2 A G 6: 141,663,672 I269M possibly damaging Het
Slco1c1 A G 6: 141,540,067 Y142C probably damaging Het
Slco3a1 T C 7: 74,284,450 N658S probably benign Het
Sos1 A T 17: 80,433,900 S485R probably benign Het
Srpk1 A G 17: 28,606,317 L127P probably damaging Het
St3gal6 T A 16: 58,493,670 probably benign Het
Stk4 T A 2: 164,074,214 M1K probably null Het
Tbc1d12 A G 19: 38,882,732 E313G probably benign Het
Tbk1 A G 10: 121,557,229 I472T probably benign Het
Tiam1 G A 16: 89,789,280 R849W probably damaging Het
Tle3 A G 9: 61,410,025 T381A probably benign Het
Tmem82 T G 4: 141,614,643 T337P probably benign Het
Tmprss15 T C 16: 79,071,261 T220A probably benign Het
Ung A G 5: 114,137,308 K242E possibly damaging Het
Vmn1r211 A T 13: 22,852,401 M32K probably benign Het
Vps13d T G 4: 145,045,088 D956A probably damaging Het
Wdr64 T A 1: 175,767,156 probably null 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
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
IGL02399:Nlrp2 APN 7 5328810 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
X0027:Nlrp2 UTSW 7 5327642 missense probably benign 0.03
Posted On2013-12-09