Mutagenetix > Incidental Mutation

Incidental Mutation 'RF040:Nlrp3'

604778

Institutional Source

Beutler Lab

Gene Symbol

Nlrp3

Ensembl Gene

ENSMUSG00000032691

Gene Name

NLR family, pyrin domain containing 3

Synonyms

Cias1, cryopyrin, Pypaf1, NALP3, Mmig1

Accession Numbers

Ncbi RefSeq: NM_145827.3; MGI:2653833

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

RF040 (G1)

Quality Score

213.576

Status

Not validated

Chromosome

Chromosomal Location

59541568-59566956 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

GGGTA to G at 59558552 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000078440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079476] [ENSMUST00000101148]

AlphaFold

Q8R4B8

Predicted Effect

probably null
Transcript: ENSMUST00000079476

SMART Domains

Protein: ENSMUSP00000078440
Gene: ENSMUSG00000032691

Domain	Start	End	E-Value	Type
PYRIN	4	87	6.39e-33	SMART
FISNA	135	206	1.45e-22	SMART
Pfam:NACHT	216	385	6.7e-52	PFAM
low complexity region	533	539	N/A	INTRINSIC
low complexity region	688	697	N/A	INTRINSIC
LRR_RI	737	764	1.07e-9	SMART
LRR	766	793	5.13e1	SMART
LRR	794	821	3.86e-7	SMART
LRR	823	850	1.62e0	SMART
LRR	851	878	3.39e-3	SMART
LRR	880	907	1.2e2	SMART
LRR	908	935	2.24e-3	SMART
LRR	937	964	2.16e2	SMART
LRR	965	992	8.73e-6	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000101148

SMART Domains

Protein: ENSMUSP00000098707
Gene: ENSMUSG00000032691

Domain	Start	End	E-Value	Type
PYRIN	4	87	6.39e-33	SMART
FISNA	135	206	1.45e-22	SMART
Pfam:NACHT	216	385	6.7e-52	PFAM
low complexity region	533	539	N/A	INTRINSIC
low complexity region	688	697	N/A	INTRINSIC
LRR_RI	737	764	1.07e-9	SMART
LRR	766	793	5.13e1	SMART
LRR	794	821	3.86e-7	SMART
LRR	823	850	1.62e0	SMART
LRR	851	878	3.39e-3	SMART
LRR	880	907	1.2e2	SMART
LRR	908	935	2.24e-3	SMART
LRR	937	964	2.16e2	SMART
LRR	965	992	8.73e-6	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

Validation Efficiency

MGI Phenotype

Strain: 3686871
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for null mutations exhibit attenuated inflammatory responses related to decrease secretion of IL-1beta and IL-18. Mice heterozygous for activating mutations suffer from autoinflammatory attacks that lead to organ failure and death before weaning. [provided by MGI curators]

Allele List at MGI

All alleles(13) : Targeted(9) Chemically induced(4)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	TG	TGTCAGGGCAGCAGCAG	8: 84,167,575		probably benign	Het
A030005L19Rik	TGCTGTG	TGCTGTGACAGCTGTG	1: 82,913,577		probably benign	Het
A030005L19Rik	G	GTGGCTGCTC	1: 82,913,590		probably benign	Het
Cacna1f	CTGAATTGGTTCCCAGACCCGTGT	CT	X: 7,618,971		probably null	Het
Calhm1	C	CTGTGGCTGTGGA	19: 47,141,277		probably benign	Het
Cdx1	CTGCTG	CTGCTGATGCTG	18: 61,019,870		probably benign	Het
Cyb5r4	ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,409		probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,583,697		probably null	Het
Dnajc2	TAGTTG	T	5: 21,757,697		probably null	Het
Fam205c	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823		probably benign	Het
Fam71e1	C	CGGGGTCAGAGGGAGGAAGGCTGGATCCTGGATACA	7: 44,500,521		probably null	Het
Fam71e1	GGGAGGA	GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA	7: 44,500,531		probably null	Het
Fgd6	ATT	A	10: 94,044,325		probably null	Het
Flywch1	CTCCTGGTGT	CTCCTGGTGTGGGGAGGCTACGTACTCACCCAGTCCTGGTGT	17: 23,762,169		probably null	Het
Gab3	CTT	CTTTTT	X: 75,000,027		probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Gykl1	G	A	18: 52,694,416	R232Q	probably benign	Het
Heatr3	TAT	TATTGAT	8: 88,156,457		probably benign	Het
Kmt2e	TTT	TTTTCTT	5: 23,478,509		probably benign	Het
Luzp1	A	AGGTGGCCTCTTCAGC	4: 136,543,196		probably benign	Het
Mamld1	AACA	AACAACA	X: 71,118,814		probably benign	Het
Mast4	CCTCGGGGACAAGCTGTGAGTTGGGGAAC	CC	13: 102,739,241		probably benign	Het
Med12l	AGC	AGCCGC	3: 59,275,967		probably benign	Het
Med12l	GCA	GCATCA	3: 59,275,989		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,419,705		probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,076,111		probably null	Het
Ncoa6	TGCAGC	TGC	2: 155,421,731		probably benign	Het
Nolc1	AGCAGCAGC	AGCAGCAGCCGCAGCAGC	19: 46,081,363		probably benign	Het
Nusap1	TTAGCAGTGAGGAGCAAGCTGAGA	TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA	2: 119,627,587		probably benign	Het
Olfr418	GTGACATC	G	1: 173,270,709		probably null	Het
Olfr625-ps1	ACTTGCTGATATCTT	ACTT	7: 103,682,938		probably null	Het
Osmr	TTCT	TTCTTCT	15: 6,837,701		probably benign	Het
Padi3	TCTCAC	TC	4: 140,792,972		probably benign	Het
Pdik1l	AC	ACCACCGC	4: 134,279,515		probably benign	Het
Rpgrip1	AGGAAGAGG	AG	14: 52,149,537		probably null	Het
Rragd	CATGCCTTTCATTCTA	C	4: 32,995,150		probably benign	Het
Ryr3	CTGA	C	2: 112,910,524		probably benign	Het
Sh3pxd2b	CCTGTG	CCTGTGTCTGTG	11: 32,423,055		probably benign	Het
Slc39a4	TGTGGTC	TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC	15: 76,614,866		probably benign	Het
Smarca2	GC	GCCCCACC	19: 26,631,022		probably benign	Het
Sprr2b	CAGTATGCTGTGAGCCTTGTCCTCCT	C	3: 92,317,564		probably null	Het
Sry	GCTG	GCTGGTGGTGGTGGTCATGGAACTG	Y: 2,662,590		probably benign	Het
Tcof1	CT	CTATT	18: 60,828,408		probably benign	Het
Tcof1	GC	GCTGCTGAGATGGGCACTTTCCCAGAGATCCCCTTGTC	18: 60,833,583		probably benign	Het
Tfeb	GCA	GCAACA	17: 47,786,097		probably benign	Het
Tfeb	CAG	CAGGAG	17: 47,786,110		probably benign	Het
Tfeb	AGC	AGCCGC	17: 47,786,111		probably benign	Het
Tfeb	GCA	GCATCA	17: 47,786,112		probably benign	Het
Tgoln1	T	TCACCTCCCGTGGTCTTGCCAGAAG	6: 72,616,074		probably benign	Het
Tmem59	TTTGTTT	TTTGTTTGGTTGTTT	4: 107,190,526		probably benign	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	15: 72,801,292		probably benign	Het
Triobp	CAA	CAACCCCAGGACTCCCTGTGCCCAACGGGGGAA	15: 78,967,063		probably benign	Het
Xirp2	TT	TTTAT	2: 67,525,544		probably benign	Het
Zfhx3	CAGCA	CAGCAACAGGAGCA	8: 108,956,101		probably benign	Het

Other mutations in Nlrp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Nlrp3	APN	11	59565943	missense	probably damaging	0.99
IGL00573:Nlrp3	APN	11	59565116	missense	possibly damaging	0.93
IGL01025:Nlrp3	APN	11	59551887	missense	probably benign	0.21
IGL01637:Nlrp3	APN	11	59549378	missense	probably damaging	0.99
IGL02010:Nlrp3	APN	11	59549535	missense	probably benign
IGL02334:Nlrp3	APN	11	59565083	missense	probably benign
IGL02417:Nlrp3	APN	11	59566023	unclassified	probably benign
IGL02578:Nlrp3	APN	11	59548401	missense	probably damaging	1.00
IGL02710:Nlrp3	APN	11	59565976	missense	probably damaging	0.99
IGL02816:Nlrp3	APN	11	59555782	missense	probably benign	0.03
IGL03157:Nlrp3	APN	11	59549546	missense	possibly damaging	0.80
IGL03334:Nlrp3	APN	11	59549016	missense	probably damaging	1.00
Flogiston	UTSW	11	59558448	missense	probably benign	0.00
nd1	UTSW	11	59565974	missense	probably benign	0.45
Nd14	UTSW	11	59555875	missense	possibly damaging	0.89
Nd3	UTSW	11	59565974	missense	probably benign	0.45
nd5	UTSW	11	59565879	missense	probably benign	0.01
nd6	UTSW	11	59549354	missense	probably damaging	1.00
nd7	UTSW	11	59555875	missense	possibly damaging	0.89
Nd9	UTSW	11	59549354	missense	probably damaging	1.00
Park2	UTSW	11	59565128	nonsense	probably null
Park3	UTSW	11	59565850	missense	probably benign	0.02
Park4	UTSW	11	59549531	missense	probably benign	0.19
Park5	UTSW	11	59548476	missense	probably damaging	0.99
Park6	UTSW	11	59549036	missense	probably damaging	1.00
Park7	UTSW	11	59548010	nonsense	probably null
Park8	UTSW	11	59566199	missense	probably benign	0.19
R0008:Nlrp3	UTSW	11	59558448	missense	probably benign	0.00
R0008:Nlrp3	UTSW	11	59558448	missense	probably benign	0.00
R0052:Nlrp3	UTSW	11	59565128	nonsense	probably null
R0362:Nlrp3	UTSW	11	59548797	missense	possibly damaging	0.49
R0416:Nlrp3	UTSW	11	59555924	splice site	probably benign
R0649:Nlrp3	UTSW	11	59548542	missense	possibly damaging	0.83
R0740:Nlrp3	UTSW	11	59548256	missense	probably benign	0.01
R0863:Nlrp3	UTSW	11	59565850	missense	probably benign	0.02
R1300:Nlrp3	UTSW	11	59555768	missense	possibly damaging	0.86
R1414:Nlrp3	UTSW	11	59549531	missense	probably benign	0.19
R1622:Nlrp3	UTSW	11	59548476	missense	probably damaging	0.99
R1654:Nlrp3	UTSW	11	59543123	missense	probably benign	0.03
R1715:Nlrp3	UTSW	11	59543351	missense	probably damaging	1.00
R1754:Nlrp3	UTSW	11	59558402	missense	possibly damaging	0.80
R1837:Nlrp3	UTSW	11	59548916	missense	probably benign	0.00
R1905:Nlrp3	UTSW	11	59549036	missense	probably damaging	1.00
R2281:Nlrp3	UTSW	11	59549136	missense	possibly damaging	0.70
R4296:Nlrp3	UTSW	11	59549661	missense	possibly damaging	0.89
R4305:Nlrp3	UTSW	11	59548010	nonsense	probably null
R4540:Nlrp3	UTSW	11	59551899	missense	possibly damaging	0.83
R4591:Nlrp3	UTSW	11	59549222	missense	probably benign	0.00
R4816:Nlrp3	UTSW	11	59548301	missense	probably benign	0.32
R4913:Nlrp3	UTSW	11	59549238	missense	probably benign	0.09
R4970:Nlrp3	UTSW	11	59548728	missense	probably damaging	1.00
R5051:Nlrp3	UTSW	11	59566199	missense	probably benign	0.19
R5112:Nlrp3	UTSW	11	59548728	missense	probably damaging	1.00
R5185:Nlrp3	UTSW	11	59565084	missense	probably benign	0.05
R5417:Nlrp3	UTSW	11	59549063	missense	probably damaging	1.00
R5709:Nlrp3	UTSW	11	59555748	nonsense	probably null
R5869:Nlrp3	UTSW	11	59548134	missense	probably damaging	1.00
R5898:Nlrp3	UTSW	11	59546852	missense	probably benign	0.00
R5953:Nlrp3	UTSW	11	59546791	missense	probably benign
R5979:Nlrp3	UTSW	11	59548971	missense	probably benign	0.06
R6359:Nlrp3	UTSW	11	59548566	missense	probably damaging	0.97
R6723:Nlrp3	UTSW	11	59565192	missense	probably damaging	1.00
R7261:Nlrp3	UTSW	11	59548446	missense	possibly damaging	0.83
R7349:Nlrp3	UTSW	11	59548086	missense	probably damaging	1.00
R7388:Nlrp3	UTSW	11	59565066	missense	probably benign	0.00
R7715:Nlrp3	UTSW	11	59543003	splice site	probably null
R7916:Nlrp3	UTSW	11	59551863	missense	probably benign	0.00
R8222:Nlrp3	UTSW	11	59548788	missense	probably damaging	0.98
R8360:Nlrp3	UTSW	11	59549403	missense	probably benign	0.02
R8390:Nlrp3	UTSW	11	59551790	missense	possibly damaging	0.47
R8550:Nlrp3	UTSW	11	59549271	missense	probably damaging	1.00
R8738:Nlrp3	UTSW	11	59549390	missense	probably benign	0.00
R8940:Nlrp3	UTSW	11	59565044	missense	probably benign	0.26
R8990:Nlrp3	UTSW	11	59548758	missense	probably damaging	0.99
R9324:Nlrp3	UTSW	11	59543315	missense	probably damaging	1.00
R9673:Nlrp3	UTSW	11	59549322	missense	probably damaging	1.00
RF031:Nlrp3	UTSW	11	59558552	frame shift	probably null
Z1088:Nlrp3	UTSW	11	59551860	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- AGCAGGTACAGGTCTCCTAG -3'
(R):5'- ACAGAATCCTAGCTGTGTGC -3'

Sequencing Primer
(F):5'- AGAGATGGCACTGACCTTGTTCC -3'
(R):5'- AATCCTAGCTGTGTGCCTCATGAAG -3'

Posted On

2019-12-04