Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02441:Nlrp2'

294006

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp2

Ensembl Gene

ENSMUSG00000035177

Gene Name

NLR family, pyrin domain containing 2

Synonyms

Pan1, Nbs1, E330007A02Rik, PYPAF2, Nalp2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02441

Quality Score

Status

Chromosome

Chromosomal Location

5301546-5354034 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 5338566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000045077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045022]

AlphaFold

Q4PLS0

Predicted Effect

probably null
Transcript: ENSMUST00000045022

SMART Domains

Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177

Domain	Start	End	E-Value	Type
PYRIN	7	90	2.88e-17	SMART
Pfam:NACHT	180	348	6.9e-30	PFAM
internal_repeat_1	676	722	1.74e-5	PROSPERO
LRR	796	823	1.26e1	SMART
LRR	825	852	1.18e1	SMART
LRR	853	880	5.81e-2	SMART
LRR	882	909	3.39e-3	SMART
LRR	910	937	5.06e-2	SMART
LRR	939	966	5.23e0	SMART
LRR	967	994	3.58e-2	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 is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). Members of this gene family are thought to be important regulators of immune responses. This gene product interacts with components of the IkB kinase (IKK) complex, and can regulate both caspase-1 and NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) activity. The pyrin domain is necessary and sufficient for suppression of NF-kB activity. An allelic variant (rs147585490) has been found that is incapable of blocking the transcriptional activity of NF-kB. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	C	T	7: 97,029,504 (GRCm39)	R179C	probably benign	Het
Als2	A	G	1: 59,254,631 (GRCm39)	M242T	probably damaging	Het
Atad1	C	T	19: 32,684,348 (GRCm39)	V17I	probably benign	Het
Bag4	A	G	8: 26,258,136 (GRCm39)	V397A	probably damaging	Het
Brd7	A	G	8: 89,070,218 (GRCm39)	V396A	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdhr4	T	A	9: 107,870,466 (GRCm39)	I123N	possibly damaging	Het
Cep68	A	G	11: 20,189,186 (GRCm39)	F609L	probably benign	Het
Clec3b	C	A	9: 122,980,178 (GRCm39)	P24T	possibly damaging	Het
Ctsg	T	A	14: 56,339,869 (GRCm39)	T9S	probably benign	Het
Dalrd3	A	T	9: 108,448,725 (GRCm39)		probably benign	Het
Dock6	A	T	9: 21,753,222 (GRCm39)	V286E	possibly damaging	Het
Dpep2	G	A	8: 106,711,723 (GRCm39)	A568V	probably benign	Het
Dph5	A	C	3: 115,720,390 (GRCm39)	Q192P	possibly damaging	Het
Eppin	T	A	2: 164,433,698 (GRCm39)	R37*	probably null	Het
Esyt1	A	G	10: 128,348,293 (GRCm39)	L865P	possibly damaging	Het
Exoc6b	A	G	6: 84,981,990 (GRCm39)	L102P	probably damaging	Het
Foxo6	A	G	4: 120,125,232 (GRCm39)	I521T	possibly damaging	Het
Guca1a	A	T	17: 47,705,578 (GRCm39)		probably benign	Het
Hpx	A	G	7: 105,241,430 (GRCm39)	F327S	probably damaging	Het
Hspa12b	A	G	2: 130,980,515 (GRCm39)	M145V	probably null	Het
Hspa4	A	T	11: 53,161,809 (GRCm39)	S448T	probably benign	Het
Kbtbd6	T	C	14: 79,690,759 (GRCm39)	Y422H	probably benign	Het
Lama4	A	T	10: 38,937,441 (GRCm39)	D677V	probably benign	Het
Ldb1	C	T	19: 46,024,195 (GRCm39)	E111K	probably damaging	Het
Macf1	A	G	4: 123,281,029 (GRCm39)	S3823P	probably damaging	Het
Man1a2	G	A	3: 100,499,189 (GRCm39)	T415I	probably benign	Het
Map3k2	T	C	18: 32,333,099 (GRCm39)		probably benign	Het
Morn5	T	A	2: 35,945,038 (GRCm39)	Y87*	probably null	Het
Mpp3	T	C	11: 101,900,501 (GRCm39)	D326G	probably benign	Het
Mrgprx1	T	C	7: 47,671,336 (GRCm39)	H137R	probably benign	Het
Nav2	C	A	7: 49,102,260 (GRCm39)	P292T	probably damaging	Het
Noxo1	G	A	17: 24,918,030 (GRCm39)	S112N	probably damaging	Het
Nudt9	G	T	5: 104,212,885 (GRCm39)	K319N	probably benign	Het
Or8b38	A	T	9: 37,973,233 (GRCm39)	I206L	probably benign	Het
Osbpl7	C	A	11: 96,958,528 (GRCm39)	Q728K	probably damaging	Het
Pcsk1	A	T	13: 75,280,282 (GRCm39)	E702D	probably benign	Het
Piezo2	T	C	18: 63,205,933 (GRCm39)	D1492G	probably damaging	Het
Plekhg1	A	G	10: 3,908,103 (GRCm39)	K1007E	possibly damaging	Het
Ppp6r3	G	A	19: 3,514,693 (GRCm39)	P141S	probably benign	Het
Prrt3	T	C	6: 113,473,977 (GRCm39)	T354A	probably damaging	Het
Ptk2	C	A	15: 73,192,675 (GRCm39)	W181L	probably benign	Het
Rif1	T	A	2: 51,995,527 (GRCm39)	H915Q	probably benign	Het
Selenbp2	G	T	3: 94,611,371 (GRCm39)	V361L	probably benign	Het
Slamf7	A	G	1: 171,468,625 (GRCm39)	L89P	probably damaging	Het
Slc6a21	G	A	7: 44,937,505 (GRCm39)	V599M	probably damaging	Het
Sltm	G	T	9: 70,494,467 (GRCm39)	S921I	probably damaging	Het
Smc4	C	A	3: 68,913,544 (GRCm39)	A44E	probably damaging	Het
Tdrd5	A	T	1: 156,087,513 (GRCm39)		probably benign	Het
Tead2	T	A	7: 44,866,845 (GRCm39)	I68N	probably damaging	Het
Tnks1bp1	T	A	2: 84,902,143 (GRCm39)	S1680T	probably damaging	Het
Topbp1	T	C	9: 103,197,438 (GRCm39)	V386A	possibly damaging	Het
Tpx2	C	A	2: 152,724,207 (GRCm39)	P328T	possibly damaging	Het
Ttn	T	A	2: 76,576,332 (GRCm39)	I24854F	probably damaging	Het
Zbtb11	G	A	16: 55,794,552 (GRCm39)	R43H	possibly damaging	Het
Zfp609	A	G	9: 65,610,611 (GRCm39)	L784S	possibly damaging	Het
Zfp703	T	C	8: 27,470,036 (GRCm39)	S567P	probably damaging	Het
Zfp750	A	G	11: 121,404,455 (GRCm39)	I140T	probably benign	Het

Other mutations in Nlrp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Nlrp2	APN	7	5,340,547 (GRCm39)	missense	probably benign	0.00
IGL00545:Nlrp2	APN	7	5,331,251 (GRCm39)	missense	possibly damaging	0.89
IGL01311:Nlrp2	APN	7	5,322,238 (GRCm39)	missense	possibly damaging	0.92
IGL01345:Nlrp2	APN	7	5,320,491 (GRCm39)	missense	probably benign	0.16
IGL01583:Nlrp2	APN	7	5,340,769 (GRCm39)	missense	probably damaging	1.00
IGL01659:Nlrp2	APN	7	5,331,034 (GRCm39)	missense	probably damaging	1.00
IGL02240:Nlrp2	APN	7	5,330,822 (GRCm39)	missense	probably damaging	1.00
IGL02353:Nlrp2	APN	7	5,340,598 (GRCm39)	missense	probably damaging	1.00
IGL02360:Nlrp2	APN	7	5,340,598 (GRCm39)	missense	probably damaging	1.00
IGL02399:Nlrp2	APN	7	5,331,809 (GRCm39)	missense	probably damaging	1.00
IGL02588:Nlrp2	APN	7	5,330,551 (GRCm39)	nonsense	probably null
IGL02803:Nlrp2	APN	7	5,331,317 (GRCm39)	missense	probably damaging	1.00
IGL02968:Nlrp2	APN	7	5,304,024 (GRCm39)	missense	possibly damaging	0.81
IGL03342:Nlrp2	APN	7	5,320,482 (GRCm39)	missense	probably damaging	1.00
BB006:Nlrp2	UTSW	7	5,330,498 (GRCm39)	missense	probably damaging	1.00
BB016:Nlrp2	UTSW	7	5,330,498 (GRCm39)	missense	probably damaging	1.00
R0027:Nlrp2	UTSW	7	5,325,447 (GRCm39)	missense	probably damaging	1.00
R0051:Nlrp2	UTSW	7	5,325,333 (GRCm39)	unclassified	probably benign
R0079:Nlrp2	UTSW	7	5,330,729 (GRCm39)	missense	possibly damaging	0.81
R0130:Nlrp2	UTSW	7	5,325,417 (GRCm39)	missense	possibly damaging	0.77
R0157:Nlrp2	UTSW	7	5,311,769 (GRCm39)	missense	possibly damaging	0.88
R0201:Nlrp2	UTSW	7	5,331,328 (GRCm39)	missense	probably benign	0.00
R0276:Nlrp2	UTSW	7	5,331,108 (GRCm39)	missense	probably benign	0.00
R0288:Nlrp2	UTSW	7	5,331,544 (GRCm39)	missense	probably benign	0.19
R0332:Nlrp2	UTSW	7	5,320,629 (GRCm39)	missense	probably damaging	1.00
R0724:Nlrp2	UTSW	7	5,322,221 (GRCm39)	missense	probably damaging	1.00
R1241:Nlrp2	UTSW	7	5,331,430 (GRCm39)	missense	probably damaging	1.00
R1355:Nlrp2	UTSW	7	5,330,490 (GRCm39)	missense	possibly damaging	0.81
R1392:Nlrp2	UTSW	7	5,332,014 (GRCm39)	splice site	probably benign
R1470:Nlrp2	UTSW	7	5,303,950 (GRCm39)	missense	probably benign	0.18
R1470:Nlrp2	UTSW	7	5,303,950 (GRCm39)	missense	probably benign	0.18
R1563:Nlrp2	UTSW	7	5,311,724 (GRCm39)	missense	probably damaging	1.00
R1866:Nlrp2	UTSW	7	5,330,715 (GRCm39)	nonsense	probably null
R1942:Nlrp2	UTSW	7	5,325,447 (GRCm39)	missense	probably damaging	1.00
R1959:Nlrp2	UTSW	7	5,330,737 (GRCm39)	missense	probably damaging	1.00
R1960:Nlrp2	UTSW	7	5,330,737 (GRCm39)	missense	probably damaging	1.00
R1961:Nlrp2	UTSW	7	5,330,737 (GRCm39)	missense	probably damaging	1.00
R2072:Nlrp2	UTSW	7	5,328,005 (GRCm39)	missense	probably damaging	1.00
R2161:Nlrp2	UTSW	7	5,328,041 (GRCm39)	missense	probably damaging	1.00
R2190:Nlrp2	UTSW	7	5,322,237 (GRCm39)	missense	possibly damaging	0.95
R2243:Nlrp2	UTSW	7	5,338,597 (GRCm39)	missense	probably benign	0.03
R2277:Nlrp2	UTSW	7	5,331,128 (GRCm39)	missense	probably benign
R2334:Nlrp2	UTSW	7	5,340,534 (GRCm39)	missense	probably benign	0.39
R3030:Nlrp2	UTSW	7	5,330,747 (GRCm39)	missense	probably damaging	1.00
R3404:Nlrp2	UTSW	7	5,322,286 (GRCm39)	missense	probably benign	0.01
R3941:Nlrp2	UTSW	7	5,330,551 (GRCm39)	nonsense	probably null
R4021:Nlrp2	UTSW	7	5,328,011 (GRCm39)	missense	probably benign	0.40
R4518:Nlrp2	UTSW	7	5,328,055 (GRCm39)	missense	possibly damaging	0.85
R4666:Nlrp2	UTSW	7	5,322,188 (GRCm39)	missense	probably benign	0.18
R4767:Nlrp2	UTSW	7	5,331,023 (GRCm39)	missense	probably damaging	1.00
R4827:Nlrp2	UTSW	7	5,331,950 (GRCm39)	missense	possibly damaging	0.60
R4873:Nlrp2	UTSW	7	5,301,858 (GRCm39)	missense	probably benign	0.09
R4875:Nlrp2	UTSW	7	5,301,858 (GRCm39)	missense	probably benign	0.09
R5020:Nlrp2	UTSW	7	5,331,076 (GRCm39)	missense	probably damaging	1.00
R5293:Nlrp2	UTSW	7	5,330,614 (GRCm39)	missense	probably damaging	1.00
R5310:Nlrp2	UTSW	7	5,328,007 (GRCm39)	missense	probably benign	0.00
R5336:Nlrp2	UTSW	7	5,331,118 (GRCm39)	missense	probably benign
R5390:Nlrp2	UTSW	7	5,303,908 (GRCm39)	missense	probably benign	0.00
R5864:Nlrp2	UTSW	7	5,325,380 (GRCm39)	missense	probably damaging	1.00
R5913:Nlrp2	UTSW	7	5,327,902 (GRCm39)	splice site	probably null
R6173:Nlrp2	UTSW	7	5,340,808 (GRCm39)	missense	probably damaging	0.96
R6274:Nlrp2	UTSW	7	5,320,554 (GRCm39)	missense	probably damaging	1.00
R6303:Nlrp2	UTSW	7	5,340,760 (GRCm39)	missense	probably damaging	1.00
R6343:Nlrp2	UTSW	7	5,303,925 (GRCm39)	missense	possibly damaging	0.82
R6704:Nlrp2	UTSW	7	5,328,040 (GRCm39)	nonsense	probably null
R6814:Nlrp2	UTSW	7	5,311,709 (GRCm39)	missense	probably benign	0.01
R6872:Nlrp2	UTSW	7	5,311,709 (GRCm39)	missense	probably benign	0.01
R7023:Nlrp2	UTSW	7	5,331,228 (GRCm39)	nonsense	probably null
R7028:Nlrp2	UTSW	7	5,331,571 (GRCm39)	missense	possibly damaging	0.93
R7109:Nlrp2	UTSW	7	5,331,616 (GRCm39)	missense	probably damaging	1.00
R7203:Nlrp2	UTSW	7	5,320,533 (GRCm39)	missense	probably damaging	1.00
R7322:Nlrp2	UTSW	7	5,311,644 (GRCm39)	missense	possibly damaging	0.94
R7339:Nlrp2	UTSW	7	5,330,627 (GRCm39)	missense	possibly damaging	0.95
R7573:Nlrp2	UTSW	7	5,320,468 (GRCm39)	critical splice donor site	probably null
R7657:Nlrp2	UTSW	7	5,322,167 (GRCm39)	missense	probably benign	0.01
R7929:Nlrp2	UTSW	7	5,330,498 (GRCm39)	missense	probably damaging	1.00
R7964:Nlrp2	UTSW	7	5,331,527 (GRCm39)	missense	probably damaging	1.00
R8097:Nlrp2	UTSW	7	5,330,650 (GRCm39)	missense	probably damaging	1.00
R8276:Nlrp2	UTSW	7	5,320,494 (GRCm39)	missense	probably benign	0.40
R8785:Nlrp2	UTSW	7	5,330,548 (GRCm39)	missense	probably damaging	0.99
R8798:Nlrp2	UTSW	7	5,330,887 (GRCm39)	missense	possibly damaging	0.86
R8982:Nlrp2	UTSW	7	5,327,978 (GRCm39)	missense	probably damaging	1.00
R9030:Nlrp2	UTSW	7	5,325,457 (GRCm39)	missense	probably null	0.00
R9038:Nlrp2	UTSW	7	5,330,478 (GRCm39)	missense	probably benign	0.14
R9149:Nlrp2	UTSW	7	5,330,572 (GRCm39)	missense	probably benign	0.01
R9229:Nlrp2	UTSW	7	5,304,052 (GRCm39)	missense	possibly damaging	0.81
R9584:Nlrp2	UTSW	7	5,322,215 (GRCm39)	missense	probably damaging	1.00
X0027:Nlrp2	UTSW	7	5,330,641 (GRCm39)	missense	probably benign	0.03

Posted On

2015-04-16