Mutagenetix > Incidental Mutation

Incidental Mutation 'R5709:Nlrp3'

501427

Institutional Source

Beutler Lab

Gene Symbol

Nlrp3

Ensembl Gene

ENSMUSG00000032691

Gene Name

NLR family, pyrin domain containing 3

Synonyms

Mmig1, Cias1, NALP3, cryopyrin, Pypaf1

MMRRC Submission

043184-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R5709 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59432395-59457781 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 59446574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 773 (W773*)

Ref Sequence

ENSEMBL: ENSMUSP00000098707 (fasta)

Gene Model

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

AlphaFold

Q8R4B8

Predicted Effect

probably null
Transcript: ENSMUST00000079476
AA Change: W773*

SMART Domains

Protein: ENSMUSP00000078440
Gene: ENSMUSG00000032691
AA Change: W773*

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
AA Change: W773*

SMART Domains

Protein: ENSMUSP00000098707
Gene: ENSMUSG00000032691
AA Change: W773*

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armt1	T	G	10: 4,384,903 (GRCm39)	H39Q	probably damaging	Het
Car14	A	T	3: 95,806,300 (GRCm39)	L284Q	possibly damaging	Het
Ccdc154	T	C	17: 25,389,118 (GRCm39)	S437P	probably damaging	Het
Dpp9	C	T	17: 56,496,393 (GRCm39)	V772I	probably benign	Het
Gm973	A	T	1: 59,591,714 (GRCm39)	K366I	possibly damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Iglc2	T	C	16: 19,017,384 (GRCm39)	T74A	probably benign	Het
Inhbb	T	A	1: 119,345,260 (GRCm39)	Y343F	probably damaging	Het
Krt13	C	T	11: 100,008,469 (GRCm39)	G423R	unknown	Het
Lama3	T	G	18: 12,672,856 (GRCm39)	M2483R	probably damaging	Het
Lrrc66	T	C	5: 73,766,206 (GRCm39)	E279G	probably benign	Het
Matr3	A	G	18: 35,715,015 (GRCm39)	E205G	probably damaging	Het
Mkks	G	A	2: 136,722,656 (GRCm39)	T167I	probably benign	Het
Mmp24	T	A	2: 155,634,462 (GRCm39)	Y61N	probably damaging	Het
Nfkb2	A	G	19: 46,298,960 (GRCm39)	T665A	probably damaging	Het
Or10d5j	A	T	9: 39,867,859 (GRCm39)	V136E	probably damaging	Het
Prol1	A	T	5: 88,475,711 (GRCm39)	R34*	probably null	Het
Rcn1	T	C	2: 105,225,128 (GRCm39)	Y109C	probably damaging	Het
Rint1	T	G	5: 24,020,831 (GRCm39)	V618G	probably damaging	Het
Rtkn2	T	A	10: 67,837,800 (GRCm39)	N117K	probably benign	Het
Sbno2	T	C	10: 79,922,171 (GRCm39)	M1V	probably null	Het
Shb	T	C	4: 45,458,327 (GRCm39)	E279G	probably damaging	Het
Smarcad1	A	G	6: 65,051,746 (GRCm39)	D293G	probably benign	Het
Sohlh2	T	C	3: 55,099,723 (GRCm39)	L165P	probably benign	Het
Spred2	T	C	11: 19,971,415 (GRCm39)	C428R	probably damaging	Het
Stra8	A	T	6: 34,904,697 (GRCm39)	D13V	possibly damaging	Het
Tdrd12	A	G	7: 35,175,478 (GRCm39)	V976A	probably damaging	Het
Ttn	A	G	2: 76,773,731 (GRCm39)	S2297P	unknown	Het
Ttn	A	G	2: 76,725,002 (GRCm39)		probably null	Het
Usp1	A	G	4: 98,819,360 (GRCm39)	D274G	probably damaging	Het
Vmn1r4	A	G	6: 56,933,604 (GRCm39)	K36R	probably benign	Het
Zfp386	T	A	12: 116,023,305 (GRCm39)	I306N	probably benign	Het
Zmpste24	T	C	4: 120,923,075 (GRCm39)	D380G	probably benign	Het

Other mutations in Nlrp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Nlrp3	APN	11	59,456,769 (GRCm39)	missense	probably damaging	0.99
IGL00573:Nlrp3	APN	11	59,455,942 (GRCm39)	missense	possibly damaging	0.93
IGL01025:Nlrp3	APN	11	59,442,713 (GRCm39)	missense	probably benign	0.21
IGL01637:Nlrp3	APN	11	59,440,204 (GRCm39)	missense	probably damaging	0.99
IGL02010:Nlrp3	APN	11	59,440,361 (GRCm39)	missense	probably benign
IGL02334:Nlrp3	APN	11	59,455,909 (GRCm39)	missense	probably benign
IGL02417:Nlrp3	APN	11	59,456,849 (GRCm39)	unclassified	probably benign
IGL02578:Nlrp3	APN	11	59,439,227 (GRCm39)	missense	probably damaging	1.00
IGL02710:Nlrp3	APN	11	59,456,802 (GRCm39)	missense	probably damaging	0.99
IGL02816:Nlrp3	APN	11	59,446,608 (GRCm39)	missense	probably benign	0.03
IGL03157:Nlrp3	APN	11	59,440,372 (GRCm39)	missense	possibly damaging	0.80
IGL03334:Nlrp3	APN	11	59,439,842 (GRCm39)	missense	probably damaging	1.00
Flogiston	UTSW	11	59,449,274 (GRCm39)	missense	probably benign	0.00
nd1	UTSW	11	59,456,800 (GRCm39)	missense	probably benign	0.45
Nd14	UTSW	11	59,446,701 (GRCm39)	missense	possibly damaging	0.89
Nd3	UTSW	11	59,456,800 (GRCm39)	missense	probably benign	0.45
nd5	UTSW	11	59,456,705 (GRCm39)	missense	probably benign	0.01
nd6	UTSW	11	59,440,180 (GRCm39)	missense	probably damaging	1.00
nd7	UTSW	11	59,446,701 (GRCm39)	missense	possibly damaging	0.89
Nd9	UTSW	11	59,440,180 (GRCm39)	missense	probably damaging	1.00
Park2	UTSW	11	59,455,954 (GRCm39)	nonsense	probably null
Park3	UTSW	11	59,456,676 (GRCm39)	missense	probably benign	0.02
Park4	UTSW	11	59,440,357 (GRCm39)	missense	probably benign	0.19
Park5	UTSW	11	59,439,302 (GRCm39)	missense	probably damaging	0.99
Park6	UTSW	11	59,439,862 (GRCm39)	missense	probably damaging	1.00
Park7	UTSW	11	59,438,836 (GRCm39)	nonsense	probably null
Park8	UTSW	11	59,457,025 (GRCm39)	missense	probably benign	0.19
R0008:Nlrp3	UTSW	11	59,449,274 (GRCm39)	missense	probably benign	0.00
R0008:Nlrp3	UTSW	11	59,449,274 (GRCm39)	missense	probably benign	0.00
R0052:Nlrp3	UTSW	11	59,455,954 (GRCm39)	nonsense	probably null
R0362:Nlrp3	UTSW	11	59,439,623 (GRCm39)	missense	possibly damaging	0.49
R0416:Nlrp3	UTSW	11	59,446,750 (GRCm39)	splice site	probably benign
R0649:Nlrp3	UTSW	11	59,439,368 (GRCm39)	missense	possibly damaging	0.83
R0740:Nlrp3	UTSW	11	59,439,082 (GRCm39)	missense	probably benign	0.01
R0863:Nlrp3	UTSW	11	59,456,676 (GRCm39)	missense	probably benign	0.02
R1300:Nlrp3	UTSW	11	59,446,594 (GRCm39)	missense	possibly damaging	0.86
R1414:Nlrp3	UTSW	11	59,440,357 (GRCm39)	missense	probably benign	0.19
R1622:Nlrp3	UTSW	11	59,439,302 (GRCm39)	missense	probably damaging	0.99
R1654:Nlrp3	UTSW	11	59,433,949 (GRCm39)	missense	probably benign	0.03
R1715:Nlrp3	UTSW	11	59,434,177 (GRCm39)	missense	probably damaging	1.00
R1754:Nlrp3	UTSW	11	59,449,228 (GRCm39)	missense	possibly damaging	0.80
R1837:Nlrp3	UTSW	11	59,439,742 (GRCm39)	missense	probably benign	0.00
R1905:Nlrp3	UTSW	11	59,439,862 (GRCm39)	missense	probably damaging	1.00
R2281:Nlrp3	UTSW	11	59,439,962 (GRCm39)	missense	possibly damaging	0.70
R4296:Nlrp3	UTSW	11	59,440,487 (GRCm39)	missense	possibly damaging	0.89
R4305:Nlrp3	UTSW	11	59,438,836 (GRCm39)	nonsense	probably null
R4540:Nlrp3	UTSW	11	59,442,725 (GRCm39)	missense	possibly damaging	0.83
R4591:Nlrp3	UTSW	11	59,440,048 (GRCm39)	missense	probably benign	0.00
R4816:Nlrp3	UTSW	11	59,439,127 (GRCm39)	missense	probably benign	0.32
R4913:Nlrp3	UTSW	11	59,440,064 (GRCm39)	missense	probably benign	0.09
R4970:Nlrp3	UTSW	11	59,439,554 (GRCm39)	missense	probably damaging	1.00
R5051:Nlrp3	UTSW	11	59,457,025 (GRCm39)	missense	probably benign	0.19
R5112:Nlrp3	UTSW	11	59,439,554 (GRCm39)	missense	probably damaging	1.00
R5185:Nlrp3	UTSW	11	59,455,910 (GRCm39)	missense	probably benign	0.05
R5417:Nlrp3	UTSW	11	59,439,889 (GRCm39)	missense	probably damaging	1.00
R5869:Nlrp3	UTSW	11	59,438,960 (GRCm39)	missense	probably damaging	1.00
R5898:Nlrp3	UTSW	11	59,437,678 (GRCm39)	missense	probably benign	0.00
R5953:Nlrp3	UTSW	11	59,437,617 (GRCm39)	missense	probably benign
R5979:Nlrp3	UTSW	11	59,439,797 (GRCm39)	missense	probably benign	0.06
R6359:Nlrp3	UTSW	11	59,439,392 (GRCm39)	missense	probably damaging	0.97
R6723:Nlrp3	UTSW	11	59,456,018 (GRCm39)	missense	probably damaging	1.00
R7261:Nlrp3	UTSW	11	59,439,272 (GRCm39)	missense	possibly damaging	0.83
R7349:Nlrp3	UTSW	11	59,438,912 (GRCm39)	missense	probably damaging	1.00
R7388:Nlrp3	UTSW	11	59,455,892 (GRCm39)	missense	probably benign	0.00
R7715:Nlrp3	UTSW	11	59,433,829 (GRCm39)	splice site	probably null
R7916:Nlrp3	UTSW	11	59,442,689 (GRCm39)	missense	probably benign	0.00
R8222:Nlrp3	UTSW	11	59,439,614 (GRCm39)	missense	probably damaging	0.98
R8360:Nlrp3	UTSW	11	59,440,229 (GRCm39)	missense	probably benign	0.02
R8390:Nlrp3	UTSW	11	59,442,616 (GRCm39)	missense	possibly damaging	0.47
R8550:Nlrp3	UTSW	11	59,440,097 (GRCm39)	missense	probably damaging	1.00
R8738:Nlrp3	UTSW	11	59,440,216 (GRCm39)	missense	probably benign	0.00
R8940:Nlrp3	UTSW	11	59,455,870 (GRCm39)	missense	probably benign	0.26
R8990:Nlrp3	UTSW	11	59,439,584 (GRCm39)	missense	probably damaging	0.99
R9324:Nlrp3	UTSW	11	59,434,141 (GRCm39)	missense	probably damaging	1.00
R9673:Nlrp3	UTSW	11	59,440,148 (GRCm39)	missense	probably damaging	1.00
RF031:Nlrp3	UTSW	11	59,449,378 (GRCm39)	frame shift	probably null
RF040:Nlrp3	UTSW	11	59,449,378 (GRCm39)	frame shift	probably null
Z1088:Nlrp3	UTSW	11	59,442,686 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- AGTATCTCCCTAAGGTCACCCC -3'
(R):5'- TTCCTGAATTGGGCCTCCAC -3'

Sequencing Primer
(F):5'- AAGGTCACCCCCTTCAGTG -3'
(R):5'- AATTGGGCCTCCACAGCAGAG -3'

Posted On

2017-12-01