Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02417:Nlrp3'

292512

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: 0.079) question?

Stock #

IGL02417

Quality Score

Status

Chromosome

Chromosomal Location

59432395-59457781 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 59456849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071943] [ENSMUST00000079476] [ENSMUST00000101148] [ENSMUST00000214351] [ENSMUST00000215339]

AlphaFold

Q8R4B8

Predicted Effect

probably benign
Transcript: ENSMUST00000071943

SMART Domains

Protein: ENSMUSP00000071835
Gene: ENSMUSG00000059610

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srv	29	311	4.3e-9	PFAM
Pfam:7tm_4	35	312	3.4e-54	PFAM
Pfam:7tm_1	45	294	1.3e-28	PFAM

Predicted Effect

probably benign
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 benign
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 benign
Transcript: ENSMUST00000214351

Predicted Effect

probably benign
Transcript: ENSMUST00000215339

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap5	T	A	12: 52,565,136 (GRCm39)	N702K	probably damaging	Het
Atm	T	C	9: 53,390,995 (GRCm39)	T1860A	probably benign	Het
Bicdl1	A	T	5: 115,811,217 (GRCm39)	H231Q	probably damaging	Het
C2cd5	A	C	6: 142,987,218 (GRCm39)	D470E	probably damaging	Het
Chd5	T	C	4: 152,451,751 (GRCm39)	F688L	probably damaging	Het
Cul3	T	C	1: 80,300,619 (GRCm39)	Y74C	probably damaging	Het
Dhx16	A	G	17: 36,203,429 (GRCm39)	E1042G	probably damaging	Het
Dnah11	A	G	12: 118,020,915 (GRCm39)	L1966P	probably damaging	Het
Dpy19l1	A	T	9: 24,386,682 (GRCm39)	I204N	possibly damaging	Het
Drd2	T	C	9: 49,313,559 (GRCm39)		probably benign	Het
Fasn	A	G	11: 120,711,166 (GRCm39)	V228A	probably damaging	Het
Fggy	T	C	4: 95,737,846 (GRCm39)	W148R	probably benign	Het
Gm9631	G	A	11: 121,834,478 (GRCm39)			Het
Gpr89	A	T	3: 96,804,741 (GRCm39)	Y38*	probably null	Het
H2-M1	G	A	17: 36,983,026 (GRCm39)	H22Y	possibly damaging	Het
Kdm3b	T	A	18: 34,941,630 (GRCm39)	S574T	probably benign	Het
Kmt2c	C	T	5: 25,578,018 (GRCm39)	V753I	probably benign	Het
Lcn9	T	C	2: 25,713,692 (GRCm39)	F73L	possibly damaging	Het
Lnpep	T	C	17: 17,765,165 (GRCm39)	T762A	possibly damaging	Het
Lrp2	C	T	2: 69,291,649 (GRCm39)	C3510Y	probably damaging	Het
Or14c39	A	G	7: 86,344,027 (GRCm39)	Y121C	probably damaging	Het
Or1j18	A	T	2: 36,624,356 (GRCm39)	I8F	probably benign	Het
Or5b3	A	G	19: 13,388,259 (GRCm39)	T109A	possibly damaging	Het
Pcnx3	A	T	19: 5,736,509 (GRCm39)	V176E	possibly damaging	Het
Phlpp1	T	C	1: 106,320,444 (GRCm39)	S1480P	probably benign	Het
Ppfia3	T	C	7: 44,991,141 (GRCm39)	R1027G	probably damaging	Het
Rnf216	A	G	5: 143,054,665 (GRCm39)	Y628H	possibly damaging	Het
Sh3bp1	G	A	15: 78,785,699 (GRCm39)	R4Q	probably damaging	Het
Skint9	A	G	4: 112,271,335 (GRCm39)		probably benign	Het
Slc25a51	A	G	4: 45,400,074 (GRCm39)	S39P	probably benign	Het
Smarca4	C	T	9: 21,612,386 (GRCm39)	R1558C	probably damaging	Het
Spag9	A	G	11: 94,007,567 (GRCm39)	S1224G	probably benign	Het
Spdl1	G	T	11: 34,704,181 (GRCm39)	Q551K	probably benign	Het
Sugt1	A	G	14: 79,847,698 (GRCm39)	I183V	probably benign	Het
Th	G	A	7: 142,453,643 (GRCm39)	S19L	probably damaging	Het
Tmprss11g	A	G	5: 86,638,750 (GRCm39)	V246A	probably benign	Het
Tnfaip8l2	T	C	3: 95,047,714 (GRCm39)	T50A	probably benign	Het
Tox3	G	T	8: 90,984,759 (GRCm39)	T140K	possibly damaging	Het
Unc50	T	A	1: 37,476,531 (GRCm39)	Y205*	probably null	Het
Vmn2r83	A	T	10: 79,314,881 (GRCm39)	K376N	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
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

2015-04-16