Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02710:Nlrp3'

304525

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 #

IGL02710

Quality Score

Status

Chromosome

Chromosomal Location

59432395-59457781 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59456802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 988 (E988G)

Ref Sequence

ENSEMBL: ENSMUSP00000098707 (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 damaging
Transcript: ENSMUST00000079476
AA Change: E988G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078440
Gene: ENSMUSG00000032691
AA Change: E988G

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: E988G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098707
Gene: ENSMUSG00000032691
AA Change: E988G

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	T	G	1: 58,373,928 (GRCm39)		probably null	Het
Col18a1	G	A	10: 76,949,146 (GRCm39)	A122V	possibly damaging	Het
Dnai3	A	T	3: 145,753,903 (GRCm39)	I719N	possibly damaging	Het
Dtnb	T	A	12: 3,698,380 (GRCm39)	H289Q	possibly damaging	Het
Fat4	A	T	3: 38,944,744 (GRCm39)	K1212N	probably damaging	Het
Gm10392	T	C	11: 77,409,294 (GRCm39)	H44R	possibly damaging	Het
Herc2	G	A	7: 55,787,562 (GRCm39)	A1740T	possibly damaging	Het
Ifna1	A	G	4: 88,768,523 (GRCm39)	D67G	probably benign	Het
Knl1	A	C	2: 118,901,411 (GRCm39)	E1037D	probably damaging	Het
Lsg1	A	T	16: 30,390,292 (GRCm39)	D274E	probably benign	Het
Msantd3	A	G	4: 48,552,686 (GRCm39)	K92E	probably damaging	Het
Nap1l4	G	A	7: 143,077,998 (GRCm39)	T312I	probably benign	Het
Or11g2	C	T	14: 50,856,255 (GRCm39)	T192I	probably benign	Het
Palm3	C	T	8: 84,754,941 (GRCm39)	T151I	possibly damaging	Het
Pde1b	T	C	15: 103,430,484 (GRCm39)	W144R	probably damaging	Het
Piezo2	A	G	18: 63,207,730 (GRCm39)	L1427P	probably damaging	Het
Rasal1	A	T	5: 120,804,496 (GRCm39)	H456L	possibly damaging	Het
Sec16a	C	T	2: 26,320,142 (GRCm39)	G1432D	possibly damaging	Het
Shc1	A	G	3: 89,331,917 (GRCm39)		probably null	Het
Skint5	T	A	4: 113,335,156 (GRCm39)	I1452F	unknown	Het
Slc35b4	C	A	6: 34,135,476 (GRCm39)	V279L	probably benign	Het
Snx9	T	C	17: 5,958,873 (GRCm39)	V283A	probably damaging	Het
Stra6l	T	C	4: 45,882,728 (GRCm39)	F480L	possibly damaging	Het
Stt3a	A	G	9: 36,670,041 (GRCm39)	Y132H	probably damaging	Het
Sv2c	T	A	13: 96,125,649 (GRCm39)	I363F	probably damaging	Het
Tnfrsf21	C	T	17: 43,398,820 (GRCm39)	T642I	probably damaging	Het
Tubgcp2	G	A	7: 139,584,897 (GRCm39)		probably benign	Het
Usp47	A	G	7: 111,692,132 (GRCm39)	N845D	probably benign	Het
Wdr20	A	T	12: 110,759,544 (GRCm39)		probably benign	Het
Zfp518b	A	G	5: 38,830,061 (GRCm39)	V648A	probably damaging	Het
Zfp687	A	T	3: 94,916,084 (GRCm39)	S927T	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
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