Mutagenetix > Incidental Mutation

Incidental Mutation 'R7715:Nlrp3'

628321

Institutional Source

Beutler Lab

Gene Symbol

Nlrp3

Ensembl Gene

ENSMUSG00000032691

Gene Name

NLR family, pyrin domain containing 3

Synonyms

Cias1, cryopyrin, Pypaf1, NALP3, Mmig1

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_145827.3; MGI:2653833

Essential gene?

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

Stock #

R7715 (G1)

Quality Score

181.009

Status

Validated

Chromosome

Chromosomal Location

59541568-59566956 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 59543003 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079476] [ENSMUST00000101148] [ENSMUST00000149126]

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

Predicted Effect

probably null
Transcript: ENSMUST00000149126

SMART Domains

Protein: ENSMUSP00000114231
Gene: ENSMUSG00000032691

Domain	Start	End	E-Value	Type
PYRIN	4	87	6.39e-33	SMART
Pfam:FISNA	135	173	1.6e-12	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (67/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	G	1: 53,182,500	F57L	probably benign	Het
Agl	C	T	3: 116,758,256	R563Q		Het
Ahctf1	A	G	1: 179,770,848	M919T	probably benign	Het
Ano4	A	T	10: 88,995,311	N483K	probably damaging	Het
Armt1	A	G	10: 4,450,751	K166R	probably benign	Het
Asgr2	T	C	11: 70,096,895	V73A	probably benign	Het
Atp6v0a2	A	C	5: 124,714,198	T564P	probably damaging	Het
B3gntl1	T	C	11: 121,639,796	T150A	possibly damaging	Het
Bach1	A	G	16: 87,719,971	I467V	possibly damaging	Het
Bicd1	A	G	6: 149,512,973	K395E	probably benign	Het
C330027C09Rik	A	T	16: 49,013,984	Q643L	probably damaging	Het
Cadps	G	A	14: 12,457,762	P1040S	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,100,036		probably null	Het
Canx	A	G	11: 50,310,804	S80P	probably benign	Het
Ccdc149	T	A	5: 52,404,191		probably null	Het
Cd34	A	T	1: 194,949,316	N87Y	probably damaging	Het
Cdh11	T	A	8: 102,664,714	I297F	possibly damaging	Het
Col14a1	A	G	15: 55,487,983	I1569V	unknown	Het
Cxcr4	C	T	1: 128,589,742	V61M	probably damaging	Het
Cyp20a1	G	A	1: 60,372,605	V271M	probably benign	Het
Cyp2b23	T	C	7: 26,681,695	Y79C	probably benign	Het
Daam1	A	G	12: 71,988,901	K957E	probably benign	Het
Dip2c	A	G	13: 9,614,391	K947E	probably damaging	Het
Efcab12	T	C	6: 115,823,543	K173R	possibly damaging	Het
Emc1	C	T	4: 139,371,623	R806C	probably damaging	Het
Epg5	G	A	18: 77,968,586	R816Q	probably damaging	Het
Faf1	G	T	4: 109,710,814	D24Y	probably damaging	Het
Fchsd1	A	T	18: 37,966,642		probably null	Het
Foxp1	T	C	6: 98,945,660	T404A	unknown	Het
Fra10ac1	T	C	19: 38,189,838	E299G	probably damaging	Het
Gon4l	A	G	3: 88,908,006	T1959A	probably benign	Het
Gpam	A	C	19: 55,088,921	V146G	probably benign	Het
Hephl1	T	A	9: 15,060,785	D953V	probably benign	Het
Kcnc2	G	T	10: 112,271,940	E79*	probably null	Het
Kcnj12	T	A	11: 61,066,952		probably null	Het
Llgl2	A	T	11: 115,849,728	T417S	probably benign	Het
Lrrc17	A	T	5: 21,561,080	N187Y	probably damaging	Het
Macc1	C	T	12: 119,446,256	A253V	possibly damaging	Het
Mark1	A	G	1: 184,907,234	S529P	probably damaging	Het
Mfsd6l	T	C	11: 68,557,550	L409P	probably damaging	Het
Nek1	A	G	8: 61,006,760	E34G	probably damaging	Het
Obsl1	A	T	1: 75,502,036	V686D	probably damaging	Het
Olfr1537	A	T	9: 39,237,878	L182H	probably damaging	Het
Olfr167	C	T	16: 19,514,730	R302K	probably benign	Het
Olfr545	T	A	7: 102,494,461	M105L	possibly damaging	Het
Olfr871	G	A	9: 20,212,435	G29R	probably damaging	Het
Olfr871	G	A	9: 20,212,436	G29E	probably benign	Het
Olfr893	T	A	9: 38,209,479	M140K	probably benign	Het
Ostm1	G	A	10: 42,683,187	G148R	probably benign	Het
Oxsr1	A	G	9: 119,242,756	S470P	probably damaging	Het
Pacs1	C	T	19: 5,141,681	M709I	probably benign	Het
Pan2	A	G	10: 128,317,723	M963V	probably benign	Het
Pds5a	A	G	5: 65,638,561	L662P	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,579,912		probably benign	Het
Sh2b2	T	C	5: 136,219,035	N554S	probably benign	Het
Sh3gl2	T	A	4: 85,398,840		probably null	Het
Slc24a4	A	G	12: 102,218,960	M93V	possibly damaging	Het
Sohlh1	A	G	2: 25,844,628	S218P	possibly damaging	Het
Spast	T	A	17: 74,368,926	N321K	probably benign	Het
Srcap	T	G	7: 127,549,288	I1936S	probably damaging	Het
Themis	G	A	10: 28,863,309	V592I	probably benign	Het
Tnfrsf1a	C	T	6: 125,361,414	T296I	possibly damaging	Het
Ttk	A	G	9: 83,865,153	T682A	probably benign	Het
Virma	C	T	4: 11,549,682	R1807W	probably damaging	Het
Virma	A	G	4: 11,513,016		probably null	Het
Vmn2r101	T	A	17: 19,611,915	D724E	probably damaging	Het
Vmn2r11	A	G	5: 109,047,441	V673A	probably damaging	Het
Wbp4	C	T	14: 79,466,294	S271N	probably benign	Het
Wdr66	A	G	5: 123,262,134	N439D	probably damaging	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
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
RF040:Nlrp3	UTSW	11	59558552	frame shift	probably null
Z1088:Nlrp3	UTSW	11	59551860	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- GGAACTTTTCTTCCATGGCTCAG -3'
(R):5'- CGGGCGGGTAATCTTCCAAATG -3'

Sequencing Primer
(F):5'- TTCCATGGCTCAGGACATACG -3'
(R):5'- GCGGGTAATCTTCCAAATGCATTTTG -3'

Posted On

2020-03-05