Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00573:Nlrp3'

12382

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp3

Ensembl Gene

ENSMUSG00000032691

Gene Name

NLR family, pyrin domain containing 3

Synonyms

Mmig1, Cias1, NALP3, cryopyrin, Pypaf1

Accession Numbers

Essential gene?

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

Stock #

IGL00573

Quality Score

Status

Chromosome

Chromosomal Location

59432395-59457781 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59455942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 913 (H913Y)

Ref Sequence

ENSEMBL: ENSMUSP00000098707 (fasta)

Gene Model

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

AlphaFold

Q8R4B8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079476
AA Change: H913Y

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078440
Gene: ENSMUSG00000032691
AA Change: H913Y

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

possibly damaging
Transcript: ENSMUST00000101148
AA Change: H913Y

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098707
Gene: ENSMUSG00000032691
AA Change: H913Y

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

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,877,704 (GRCm39)	D687G	probably benign	Het
Cd69	C	A	6: 129,245,283 (GRCm39)	V140F	probably damaging	Het
Cep290	C	T	10: 100,376,223 (GRCm39)	P1437L	probably damaging	Het
Chd4	T	C	6: 125,086,860 (GRCm39)	Y1023H	probably damaging	Het
Col6a4	T	A	9: 105,900,095 (GRCm39)	Y1676F	probably benign	Het
Ctnna2	A	C	6: 76,879,264 (GRCm39)		probably benign	Het
Cwf19l2	T	C	9: 3,450,161 (GRCm39)		probably benign	Het
Fbln1	A	T	15: 85,111,238 (GRCm39)	M131L	probably benign	Het
Flcn	A	G	11: 59,686,649 (GRCm39)	V368A	probably damaging	Het
Marveld2	A	T	13: 100,734,367 (GRCm39)		probably benign	Het
Mcm8	A	G	2: 132,674,732 (GRCm39)	Y400C	possibly damaging	Het
Mdn1	T	C	4: 32,666,619 (GRCm39)		probably null	Het
Nedd4	T	A	9: 72,593,338 (GRCm39)		probably null	Het
Pkd1	G	T	17: 24,813,504 (GRCm39)	E4015*	probably null	Het
Plscr1	C	T	9: 92,146,732 (GRCm39)	L125F	probably benign	Het
Trim30c	T	A	7: 104,031,838 (GRCm39)	I326L	possibly damaging	Het
Tsga10	T	C	1: 37,846,151 (GRCm39)	D325G	probably damaging	Het
Tubgcp4	A	G	2: 121,009,182 (GRCm39)	Y158C	probably damaging	Het
Zbtb40	G	A	4: 136,745,389 (GRCm39)	P215S	probably benign	Het
Zfp568	A	T	7: 29,721,865 (GRCm39)	H269L	possibly damaging	Het
Zmynd11	T	G	13: 9,739,262 (GRCm39)	E510A	probably damaging	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
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
R5709:Nlrp3	UTSW	11	59,446,574 (GRCm39)	nonsense	probably null
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

Posted On

2012-12-06