Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01659:Nlrp2'

103105

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 #

IGL01659

Quality Score

Status

Chromosome

Chromosomal Location

5298547-5351035 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5328035 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 454 (L454P)

Ref Sequence

ENSEMBL: ENSMUSP00000045077 (fasta)

Gene Model

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

AlphaFold

Q4PLS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000045022
AA Change: L454P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177
AA Change: L454P

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 24,870,774 (GRCm38)		probably benign	Het
Ankrd11	A	G	8: 122,895,371 (GRCm38)	S581P	probably damaging	Het
Arl13b	T	C	16: 62,802,750 (GRCm38)	S370G	possibly damaging	Het
Cdr2	G	T	7: 120,958,549 (GRCm38)	A251E	probably damaging	Het
Clec4a4	A	T	6: 123,023,935 (GRCm38)	E202D	probably damaging	Het
Col14a1	T	A	15: 55,446,172 (GRCm38)		probably benign	Het
Dhfr	A	T	13: 92,355,670 (GRCm38)		probably null	Het
Flnc	A	G	6: 29,448,671 (GRCm38)	T1303A	probably damaging	Het
Mug1	A	T	6: 121,870,660 (GRCm38)		probably benign	Het
Napepld	A	G	5: 21,675,716 (GRCm38)	V227A	probably damaging	Het
Nf1	A	G	11: 79,559,449 (GRCm38)	E487G	probably benign	Het
Olfr1049	A	T	2: 86,255,185 (GRCm38)	C169*	probably null	Het
Rad51	T	A	2: 119,118,702 (GRCm38)	I61K	probably benign	Het
Rfx8	A	T	1: 39,670,573 (GRCm38)	H431Q	probably damaging	Het
Sspo	A	G	6: 48,474,443 (GRCm38)	N2725S	probably damaging	Het
Trim16	A	G	11: 62,820,695 (GRCm38)	E64G	probably benign	Het
Zfp879	T	C	11: 50,838,454 (GRCm38)	Y39C	probably damaging	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
IGL02240:Nlrp2	APN	7	5,327,823 (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

2014-01-21