Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02240:Nlrp2'

286038

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp2

Ensembl Gene

ENSMUSG00000035177

Gene Name

NLR family, pyrin domain containing 2

Synonyms

Nbs1, Pan1, PYPAF2, E330007A02Rik, Nalp2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02240

Quality Score

Status

Chromosome

Chromosomal Location

5298547-5351035 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5327823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 525 (S525T)

Ref Sequence

ENSEMBL: ENSMUSP00000045077 (fasta)

Gene Model

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

AlphaFold

Q4PLS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000045022
AA Change: S525T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177
AA Change: S525T

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cand2	A	G	6: 115,803,662 (GRCm38)	E1169G	probably damaging	Het
Cdc34	A	G	10: 79,687,989 (GRCm38)	D168G	possibly damaging	Het
Cwc27	A	T	13: 104,806,643 (GRCm38)	F130L	probably damaging	Het
Dglucy	T	A	12: 100,871,413 (GRCm38)	M635K	possibly damaging	Het
Eral1	G	A	11: 78,077,861 (GRCm38)	R149*	probably null	Het
Gad1-ps	A	G	10: 99,444,958 (GRCm38)		noncoding transcript	Het
Glis3	A	T	19: 28,531,525 (GRCm38)	L353Q	probably damaging	Het
Gsta2	T	A	9: 78,331,159 (GRCm38)	I213F	probably benign	Het
Ist1	A	T	8: 109,682,204 (GRCm38)		probably benign	Het
Kif1b	A	G	4: 149,246,414 (GRCm38)	V549A	probably damaging	Het
Lrp2	C	T	2: 69,535,046 (GRCm38)	R261H	probably benign	Het
Msh4	T	C	3: 153,873,674 (GRCm38)	N512S	probably damaging	Het
Nlrp4a	G	T	7: 26,449,278 (GRCm38)	K103N	possibly damaging	Het
Olfr923	T	A	9: 38,828,306 (GRCm38)	V205D	probably benign	Het
Pcdhb10	A	T	18: 37,412,402 (GRCm38)	H177L	possibly damaging	Het
Plcb3	A	T	19: 6,958,080 (GRCm38)		probably benign	Het
Podxl	A	G	6: 31,524,998 (GRCm38)	L342P	probably damaging	Het
Psd4	T	G	2: 24,396,377 (GRCm38)	S330A	probably benign	Het
Sucla2	A	G	14: 73,590,847 (GRCm38)	D298G	probably damaging	Het
Tecr	T	C	8: 83,573,416 (GRCm38)	D107G	probably damaging	Het
Vamp4	T	A	1: 162,577,877 (GRCm38)	N24K	possibly damaging	Het
Zfp91	A	G	19: 12,776,406 (GRCm38)		probably benign	Het

Other mutations in Nlrp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Nlrp2	APN	7	5,337,548 (GRCm38)	missense	probably benign	0.00
IGL00545:Nlrp2	APN	7	5,328,252 (GRCm38)	missense	possibly damaging	0.89
IGL01311:Nlrp2	APN	7	5,319,239 (GRCm38)	missense	possibly damaging	0.92
IGL01345:Nlrp2	APN	7	5,317,492 (GRCm38)	missense	probably benign	0.16
IGL01583:Nlrp2	APN	7	5,337,770 (GRCm38)	missense	probably damaging	1.00
IGL01659:Nlrp2	APN	7	5,328,035 (GRCm38)	missense	probably damaging	1.00
IGL02353:Nlrp2	APN	7	5,337,599 (GRCm38)	missense	probably damaging	1.00
IGL02360:Nlrp2	APN	7	5,337,599 (GRCm38)	missense	probably damaging	1.00
IGL02399:Nlrp2	APN	7	5,328,810 (GRCm38)	missense	probably damaging	1.00
IGL02441:Nlrp2	APN	7	5,335,567 (GRCm38)	critical splice donor site	probably null
IGL02588:Nlrp2	APN	7	5,327,552 (GRCm38)	nonsense	probably null
IGL02803:Nlrp2	APN	7	5,328,318 (GRCm38)	missense	probably damaging	1.00
IGL02968:Nlrp2	APN	7	5,301,025 (GRCm38)	missense	possibly damaging	0.81
IGL03342:Nlrp2	APN	7	5,317,483 (GRCm38)	missense	probably damaging	1.00
BB006:Nlrp2	UTSW	7	5,327,499 (GRCm38)	missense	probably damaging	1.00
BB016:Nlrp2	UTSW	7	5,327,499 (GRCm38)	missense	probably damaging	1.00
R0027:Nlrp2	UTSW	7	5,322,448 (GRCm38)	missense	probably damaging	1.00
R0051:Nlrp2	UTSW	7	5,322,334 (GRCm38)	unclassified	probably benign
R0079:Nlrp2	UTSW	7	5,327,730 (GRCm38)	missense	possibly damaging	0.81
R0130:Nlrp2	UTSW	7	5,322,418 (GRCm38)	missense	possibly damaging	0.77
R0157:Nlrp2	UTSW	7	5,308,770 (GRCm38)	missense	possibly damaging	0.88
R0201:Nlrp2	UTSW	7	5,328,329 (GRCm38)	missense	probably benign	0.00
R0276:Nlrp2	UTSW	7	5,328,109 (GRCm38)	missense	probably benign	0.00
R0288:Nlrp2	UTSW	7	5,328,545 (GRCm38)	missense	probably benign	0.19
R0332:Nlrp2	UTSW	7	5,317,630 (GRCm38)	missense	probably damaging	1.00
R0724:Nlrp2	UTSW	7	5,319,222 (GRCm38)	missense	probably damaging	1.00
R1241:Nlrp2	UTSW	7	5,328,431 (GRCm38)	missense	probably damaging	1.00
R1355:Nlrp2	UTSW	7	5,327,491 (GRCm38)	missense	possibly damaging	0.81
R1392:Nlrp2	UTSW	7	5,329,015 (GRCm38)	splice site	probably benign
R1470:Nlrp2	UTSW	7	5,300,951 (GRCm38)	missense	probably benign	0.18
R1470:Nlrp2	UTSW	7	5,300,951 (GRCm38)	missense	probably benign	0.18
R1563:Nlrp2	UTSW	7	5,308,725 (GRCm38)	missense	probably damaging	1.00
R1866:Nlrp2	UTSW	7	5,327,716 (GRCm38)	nonsense	probably null
R1942:Nlrp2	UTSW	7	5,322,448 (GRCm38)	missense	probably damaging	1.00
R1959:Nlrp2	UTSW	7	5,327,738 (GRCm38)	missense	probably damaging	1.00
R1960:Nlrp2	UTSW	7	5,327,738 (GRCm38)	missense	probably damaging	1.00
R1961:Nlrp2	UTSW	7	5,327,738 (GRCm38)	missense	probably damaging	1.00
R2072:Nlrp2	UTSW	7	5,325,006 (GRCm38)	missense	probably damaging	1.00
R2161:Nlrp2	UTSW	7	5,325,042 (GRCm38)	missense	probably damaging	1.00
R2190:Nlrp2	UTSW	7	5,319,238 (GRCm38)	missense	possibly damaging	0.95
R2243:Nlrp2	UTSW	7	5,335,598 (GRCm38)	missense	probably benign	0.03
R2277:Nlrp2	UTSW	7	5,328,129 (GRCm38)	missense	probably benign
R2334:Nlrp2	UTSW	7	5,337,535 (GRCm38)	missense	probably benign	0.39
R3030:Nlrp2	UTSW	7	5,327,748 (GRCm38)	missense	probably damaging	1.00
R3404:Nlrp2	UTSW	7	5,319,287 (GRCm38)	missense	probably benign	0.01
R3941:Nlrp2	UTSW	7	5,327,552 (GRCm38)	nonsense	probably null
R4021:Nlrp2	UTSW	7	5,325,012 (GRCm38)	missense	probably benign	0.40
R4518:Nlrp2	UTSW	7	5,325,056 (GRCm38)	missense	possibly damaging	0.85
R4666:Nlrp2	UTSW	7	5,319,189 (GRCm38)	missense	probably benign	0.18
R4767:Nlrp2	UTSW	7	5,328,024 (GRCm38)	missense	probably damaging	1.00
R4827:Nlrp2	UTSW	7	5,328,951 (GRCm38)	missense	possibly damaging	0.60
R4873:Nlrp2	UTSW	7	5,298,859 (GRCm38)	missense	probably benign	0.09
R4875:Nlrp2	UTSW	7	5,298,859 (GRCm38)	missense	probably benign	0.09
R5020:Nlrp2	UTSW	7	5,328,077 (GRCm38)	missense	probably damaging	1.00
R5293:Nlrp2	UTSW	7	5,327,615 (GRCm38)	missense	probably damaging	1.00
R5310:Nlrp2	UTSW	7	5,325,008 (GRCm38)	missense	probably benign	0.00
R5336:Nlrp2	UTSW	7	5,328,119 (GRCm38)	missense	probably benign
R5390:Nlrp2	UTSW	7	5,300,909 (GRCm38)	missense	probably benign	0.00
R5864:Nlrp2	UTSW	7	5,322,381 (GRCm38)	missense	probably damaging	1.00
R5913:Nlrp2	UTSW	7	5,324,903 (GRCm38)	splice site	probably null
R6173:Nlrp2	UTSW	7	5,337,809 (GRCm38)	missense	probably damaging	0.96
R6274:Nlrp2	UTSW	7	5,317,555 (GRCm38)	missense	probably damaging	1.00
R6303:Nlrp2	UTSW	7	5,337,761 (GRCm38)	missense	probably damaging	1.00
R6343:Nlrp2	UTSW	7	5,300,926 (GRCm38)	missense	possibly damaging	0.82
R6704:Nlrp2	UTSW	7	5,325,041 (GRCm38)	nonsense	probably null
R6814:Nlrp2	UTSW	7	5,308,710 (GRCm38)	missense	probably benign	0.01
R6872:Nlrp2	UTSW	7	5,308,710 (GRCm38)	missense	probably benign	0.01
R7023:Nlrp2	UTSW	7	5,328,229 (GRCm38)	nonsense	probably null
R7028:Nlrp2	UTSW	7	5,328,572 (GRCm38)	missense	possibly damaging	0.93
R7109:Nlrp2	UTSW	7	5,328,617 (GRCm38)	missense	probably damaging	1.00
R7203:Nlrp2	UTSW	7	5,317,534 (GRCm38)	missense	probably damaging	1.00
R7322:Nlrp2	UTSW	7	5,308,645 (GRCm38)	missense	possibly damaging	0.94
R7339:Nlrp2	UTSW	7	5,327,628 (GRCm38)	missense	possibly damaging	0.95
R7573:Nlrp2	UTSW	7	5,317,469 (GRCm38)	critical splice donor site	probably null
R7657:Nlrp2	UTSW	7	5,319,168 (GRCm38)	missense	probably benign	0.01
R7929:Nlrp2	UTSW	7	5,327,499 (GRCm38)	missense	probably damaging	1.00
R7964:Nlrp2	UTSW	7	5,328,528 (GRCm38)	missense	probably damaging	1.00
R8097:Nlrp2	UTSW	7	5,327,651 (GRCm38)	missense	probably damaging	1.00
R8276:Nlrp2	UTSW	7	5,317,495 (GRCm38)	missense	probably benign	0.40
R8785:Nlrp2	UTSW	7	5,327,549 (GRCm38)	missense	probably damaging	0.99
R8798:Nlrp2	UTSW	7	5,327,888 (GRCm38)	missense	possibly damaging	0.86
R8982:Nlrp2	UTSW	7	5,324,979 (GRCm38)	missense	probably damaging	1.00
R9030:Nlrp2	UTSW	7	5,322,458 (GRCm38)	missense	probably null	0.00
R9038:Nlrp2	UTSW	7	5,327,479 (GRCm38)	missense	probably benign	0.14
R9149:Nlrp2	UTSW	7	5,327,573 (GRCm38)	missense	probably benign	0.01
R9229:Nlrp2	UTSW	7	5,301,053 (GRCm38)	missense	possibly damaging	0.81
R9584:Nlrp2	UTSW	7	5,319,216 (GRCm38)	missense	probably damaging	1.00
X0027:Nlrp2	UTSW	7	5,327,642 (GRCm38)	missense	probably benign	0.03

Posted On

2015-04-16