Mutagenetix > Incidental Mutation

Incidental Mutation 'R6723:Nlrp3'

529705

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: 0.093) question?

Stock #

R6723 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59541568-59566956 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59565192 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 938 (C938Y)

Ref Sequence

ENSEMBL: ENSMUSP00000098707 (fasta)

Gene Model

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

AlphaFold

Q8R4B8

Predicted Effect

probably damaging
Transcript: ENSMUST00000079476
AA Change: C938Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078440
Gene: ENSMUSG00000032691
AA Change: C938Y

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 damaging
Transcript: ENSMUST00000101148
AA Change: C938Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098707
Gene: ENSMUSG00000032691
AA Change: C938Y

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,289,823	Y2451C	possibly damaging	Het
Ahnak2	A	G	12: 112,778,793	S740P	probably damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Bcl11a	C	A	11: 24,163,646	P330T	probably damaging	Het
Cyp2d12	A	T	15: 82,556,884	I124F	probably benign	Het
Dhdds	T	C	4: 133,994,265	T74A	probably damaging	Het
Dio3	G	A	12: 110,279,557	C109Y	possibly damaging	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dock7	A	G	4: 99,003,916	V811A	possibly damaging	Het
Efcab3	A	T	11: 105,117,080	T329S	possibly damaging	Het
Esp1	A	T	17: 40,728,856	I11L	probably benign	Het
Fam13b	A	T	18: 34,498,026	H33Q	possibly damaging	Het
Fam13c	G	A	10: 70,554,525	D539N	probably damaging	Het
Fgd5	A	G	6: 91,988,030	T257A	probably benign	Het
Gm5134	A	G	10: 76,008,619	D603G	probably benign	Het
Gtpbp2	T	C	17: 46,168,276	V588A	probably benign	Het
Ift140	A	G	17: 25,033,116	I312M	probably benign	Het
Inpp5j	T	C	11: 3,500,640	N571S	probably damaging	Het
Iqgap1	T	G	7: 80,723,822	D1473A	probably benign	Het
Ivl	T	G	3: 92,571,387	K457T	unknown	Het
Kdm3b	T	C	18: 34,793,005	I66T	probably damaging	Het
Kif21a	A	T	15: 90,940,446	M1430K	probably damaging	Het
Klhl25	T	A	7: 75,865,991	L215Q	possibly damaging	Het
Lim2	T	A	7: 43,435,675	M163K	probably benign	Het
Lrig1	T	C	6: 94,626,405	D254G	probably damaging	Het
Mff	A	G	1: 82,751,666	I122V	possibly damaging	Het
Mrpl15	A	C	1: 4,782,566		probably null	Het
Mylk	A	G	16: 34,929,888	Y1199C	possibly damaging	Het
Notch1	T	C	2: 26,478,106	N623D	probably damaging	Het
Obscn	T	G	11: 59,054,998	E4129A	probably damaging	Het
Olfr1221	G	T	2: 89,112,296	T72N	possibly damaging	Het
Olfr1423	A	G	19: 12,036,275	S156P	probably damaging	Het
Olfr173	T	C	16: 58,797,432	K138R	probably benign	Het
Olfr517	A	T	7: 108,868,588	C189S	probably damaging	Het
Olfr808	A	T	10: 129,768,415	L306F	probably benign	Het
Parm1	C	T	5: 91,622,997	P291S	probably damaging	Het
Pcsk1	T	A	13: 75,093,069		probably null	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Piezo1	T	G	8: 122,507,627	Q93H	probably benign	Het
Pkd2l2	A	T	18: 34,438,157	Y575F	probably damaging	Het
Plekhn1	A	C	4: 156,224,569	F258C	probably damaging	Het
Pole	C	T	5: 110,323,616	H1409Y	probably benign	Het
Rae1	T	C	2: 173,012,248	I273T	probably damaging	Het
Rag1	A	G	2: 101,643,645	V384A	probably damaging	Het
Rnaseh1	T	C	12: 28,649,762	L25P	probably damaging	Het
Serpinb12	A	G	1: 106,949,158	H68R	probably benign	Het
Sh3tc2	A	T	18: 61,977,954	I294F	probably damaging	Het
Sirpb1b	A	C	3: 15,548,798	L75V	possibly damaging	Het
Slc12a6	A	T	2: 112,337,942	T277S	probably damaging	Het
Slc7a12	A	T	3: 14,499,197	E43D	probably benign	Het
Spata31d1c	T	A	13: 65,035,944	D433E	probably benign	Het
Tbl2	A	T	5: 135,159,276	Y308F	probably damaging	Het
Tfec	T	C	6: 16,835,302	Y159C	probably damaging	Het
Tmem8	C	A	17: 26,120,636	T616N	probably damaging	Het
Top1mt	G	T	15: 75,667,433	T371K	probably benign	Het
Trim24	T	C	6: 37,951,468	V541A	probably benign	Het
Ttc16	T	C	2: 32,768,037	Y456C	possibly damaging	Het
Ttn	G	A	2: 76,770,097	R17204*	probably null	Het
Ugt1a6b	T	C	1: 88,107,717	V259A	probably benign	Het
Unc5a	T	C	13: 54,995,889	W129R	probably benign	Het
Vmn1r63	T	A	7: 5,802,949	H228L	probably damaging	Het
Whamm	G	T	7: 81,596,120	V775F	probably damaging	Het
Zfc3h1	T	A	10: 115,420,733	I1536N	probably benign	Het
Zfp1	T	C	8: 111,670,339	S317P	probably damaging	Het
Zfp58	T	C	13: 67,494,073	T52A	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
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
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'- CAATGTCTGAGAGAGCCTGG -3'
(R):5'- CAAATGAATGTTTGCAGTTGGC -3'

Sequencing Primer
(F):5'- GGCACTGAGGACTCCTTCTC -3'
(R):5'- CAGGACTGTGGTGGCAG -3'

Posted On

2018-08-01