Mutagenetix > Incidental Mutation

Incidental Mutation 'R5185:Nlrp3'

397828

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

042764-MU

Accession Numbers

Ncbi RefSeq: NM_145827.3; MGI:2653833

Essential gene?

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

Stock #

R5185 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59541568-59566956 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 59565084 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 902 (T902N)

Ref Sequence

ENSEMBL: ENSMUSP00000098707 (fasta)

Gene Model

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

AlphaFold

Q8R4B8

Predicted Effect

probably benign
Transcript: ENSMUST00000079476
AA Change: T902N

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000078440
Gene: ENSMUSG00000032691
AA Change: T902N

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 benign
Transcript: ENSMUST00000101148
AA Change: T902N

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000098707
Gene: ENSMUSG00000032691
AA Change: T902N

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

95% (70/74)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf2	T	C	11: 94,562,911	Y408C	probably damaging	Het
Aox4	T	C	1: 58,254,318	L943S	probably damaging	Het
Ap1g1	G	A	8: 109,863,326		probably benign	Het
Arsb	T	C	13: 93,794,159	S212P	probably damaging	Het
Arsi	A	G	18: 60,916,912	N289S	probably damaging	Het
Atp6v1h	T	A	1: 5,095,642	F72I	probably damaging	Het
Atxn7	T	C	14: 14,090,063	I336T	probably benign	Het
Bak1	G	A	17: 27,022,748	P65L	possibly damaging	Het
Bcl6	A	T	16: 23,972,947	M219K	possibly damaging	Het
Brd3	T	C	2: 27,462,448	K157E	probably damaging	Het
Ccdc171	T	G	4: 83,663,655	S674A	possibly damaging	Het
Cfap43	A	G	19: 47,780,394	I737T	probably benign	Het
Cul9	A	T	17: 46,525,832	V1089D	possibly damaging	Het
Dffa	C	A	4: 149,117,430	A155E	probably benign	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Efcab12	T	A	6: 115,823,490	M191L	probably benign	Het
Efl1	T	C	7: 82,772,499	L1018P	probably damaging	Het
Fcho1	A	G	8: 71,714,956		probably benign	Het
Fndc3b	T	A	3: 27,457,070	T764S	probably benign	Het
Gm29125	T	C	1: 80,384,231		noncoding transcript	Het
Gm5108	A	G	5: 67,944,610		probably benign	Het
Gm9949	T	G	18: 62,180,565		probably benign	Het
Golgb1	T	C	16: 36,875,141		probably benign	Het
Gpd2	T	C	2: 57,340,204	Y323H	probably damaging	Het
Grip1	T	G	10: 119,931,259	D96E	probably benign	Het
Hmcn1	T	C	1: 150,656,741	I3132V	probably benign	Het
Hsd17b1	T	C	11: 101,080,198	W327R	possibly damaging	Het
Htra2	G	A	6: 83,054,242	P62L	probably benign	Het
Kdr	A	T	5: 75,952,417		probably null	Het
Kif14	T	A	1: 136,527,469	C1626*	probably null	Het
Kmt2a	A	T	9: 44,820,246		probably benign	Het
Krt15	T	C	11: 100,133,433	T321A	probably damaging	Het
Lactbl1	A	T	4: 136,631,045	H109L	probably benign	Het
Lilra6	T	A	7: 3,914,636	H120L	probably benign	Het
Lpcat2	G	A	8: 92,869,737	S134N	probably benign	Het
Mpp4	T	C	1: 59,125,583	D465G	probably benign	Het
Naip2	A	T	13: 100,189,351	D16E	probably damaging	Het
Nek5	C	T	8: 22,083,381	A520T	possibly damaging	Het
Nfatc2	A	G	2: 168,570,707	F132L	possibly damaging	Het
Olfr1097	T	C	2: 86,890,602	D191G	probably benign	Het
Olfr1230	A	T	2: 89,296,387	H294Q	probably benign	Het
Olfr149	A	T	9: 39,701,876	W298R	probably benign	Het
Olfr58	T	C	9: 19,783,376	M81T	probably damaging	Het
Pcdhb16	T	C	18: 37,480,089	S701P	possibly damaging	Het
Phf7	A	G	14: 31,248,037		probably null	Het
Plpp4	G	A	7: 129,316,304	V68M	probably damaging	Het
Pnma2	A	T	14: 66,916,129	M1L	possibly damaging	Het
Pnmal2	A	T	7: 16,945,976	D295V	probably damaging	Het
Rad21l	T	C	2: 151,657,462	D270G	probably benign	Het
Ralgapa2	C	A	2: 146,388,486		probably null	Het
Rasal3	A	T	17: 32,396,790	L334Q	probably damaging	Het
Rfx4	G	T	10: 84,863,250	R240L	probably damaging	Het
Rnf19b	T	A	4: 129,083,920	C642*	probably null	Het
Slc28a2	G	A	2: 122,458,194	E594K	probably benign	Het
Spata31	G	T	13: 64,917,526	W15L	possibly damaging	Het
Spink5	T	C	18: 44,015,644	S925P	probably damaging	Het
Svep1	C	T	4: 58,084,534	G1865S	probably damaging	Het
Tg	T	C	15: 66,773,474	L791P	probably damaging	Het
Thbs4	A	C	13: 92,775,167	V247G	probably damaging	Het
Tpcn2	A	T	7: 145,255,454	F705Y	probably damaging	Het
Try10	A	T	6: 41,356,549	H76L	probably damaging	Het
Ttn	C	T	2: 76,939,221	V2695I	probably damaging	Het
Tut1	C	A	19: 8,955,450	T49N	probably benign	Het
Vmn1r17	A	G	6: 57,360,843	V130A	probably benign	Het
Xdh	G	A	17: 73,925,011	R235C	probably damaging	Het
Yipf4	A	G	17: 74,492,475	D70G	probably null	Het
Zfp108	G	T	7: 24,260,738	K251N	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
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
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'- ATCTCTCCTGTGGGATCCAG -3'
(R):5'- ACAGATTTGCATCAGGGTTGCTC -3'

Sequencing Primer
(F):5'- AGAGACGTGGAGCCATGCTTC -3'
(R):5'- ATCAGGGTTGCTCCAGGG -3'

Posted On

2016-07-06