Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02399:Nlrp2'

291828

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 #

IGL02399

Quality Score

Status

Chromosome

Chromosomal Location

5301546-5354034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5331809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 196 (A196T)

Ref Sequence

ENSEMBL: ENSMUSP00000045077 (fasta)

Gene Model

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

AlphaFold

Q4PLS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000045022
AA Change: A196T

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

SMART Domains

Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177
AA Change: A196T

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	C	T	2: 150,700,413 (GRCm39)		probably benign	Het
Adarb1	G	A	10: 77,131,588 (GRCm39)	P624S	probably benign	Het
Afg3l2	A	T	18: 67,562,110 (GRCm39)	F322I	possibly damaging	Het
Arhgap23	A	G	11: 97,381,831 (GRCm39)		probably benign	Het
Atp13a1	A	G	8: 70,259,751 (GRCm39)	N1114S	probably damaging	Het
C3ar1	T	C	6: 122,826,838 (GRCm39)	N460D	probably benign	Het
Cacna1e	A	G	1: 154,279,493 (GRCm39)	Y1988H	probably damaging	Het
Calr	T	C	8: 85,569,415 (GRCm39)		probably benign	Het
D5Ertd579e	A	G	5: 36,773,529 (GRCm39)	S289P	probably damaging	Het
Erbb4	G	A	1: 68,081,596 (GRCm39)		probably benign	Het
Fam98a	A	G	17: 75,845,936 (GRCm39)		probably benign	Het
Gm3739	A	T	14: 18,505,274 (GRCm39)	D83E	possibly damaging	Het
Gm5420	A	T	10: 21,567,071 (GRCm39)		noncoding transcript	Het
Heatr5b	A	G	17: 79,135,396 (GRCm39)	V245A	probably damaging	Het
Kptn	C	A	7: 15,861,038 (GRCm39)		probably benign	Het
Llgl2	T	C	11: 115,735,661 (GRCm39)	C86R	probably damaging	Het
Lrr1	T	A	12: 69,215,665 (GRCm39)	C12*	probably null	Het
Mcf2	T	C	X: 59,180,812 (GRCm39)	D255G	probably damaging	Het
Med13	A	T	11: 86,174,771 (GRCm39)		probably benign	Het
Mthfd1	C	T	12: 76,364,406 (GRCm39)	T735M	probably damaging	Het
Nnmt	T	C	9: 48,514,838 (GRCm39)	I60V	probably damaging	Het
Odad2	G	T	18: 7,285,719 (GRCm39)	Q215K	probably benign	Het
Or4c110	T	A	2: 88,832,507 (GRCm39)	T42S	probably benign	Het
Or6ae1	A	T	7: 139,742,513 (GRCm39)	S117T	probably benign	Het
P2rx3	T	C	2: 84,853,571 (GRCm39)	I140V	probably benign	Het
Patj	A	G	4: 98,480,173 (GRCm39)	N1293D	probably damaging	Het
Pitpnm2	G	A	5: 124,278,821 (GRCm39)		probably benign	Het
Ppp1r26	T	G	2: 28,343,292 (GRCm39)	V974G	probably benign	Het
Prrc2b	T	A	2: 32,116,973 (GRCm39)	L1376*	probably null	Het
Rab33a	T	A	X: 47,608,584 (GRCm39)	I36N	probably damaging	Het
Rab3gap1	A	T	1: 127,855,840 (GRCm39)	N493I	possibly damaging	Het
Scara3	C	A	14: 66,170,559 (GRCm39)	G107*	probably null	Het
Siglec1	T	C	2: 130,913,098 (GRCm39)	E1606G	probably benign	Het
Skint9	A	T	4: 112,246,447 (GRCm39)	Y222N	possibly damaging	Het
Slc47a1	A	T	11: 61,253,884 (GRCm39)	I185N	probably damaging	Het
Slc47a2	C	A	11: 61,193,020 (GRCm39)		probably benign	Het
Slc4a2	A	G	5: 24,639,711 (GRCm39)	I506V	probably damaging	Het
Slc9a4	A	C	1: 40,639,942 (GRCm39)	I245L	probably benign	Het
Smarcb1	T	C	10: 75,733,328 (GRCm39)	T357A	probably damaging	Het
Spata31d1d	A	G	13: 59,877,954 (GRCm39)		probably benign	Het
Stox2	T	A	8: 47,639,573 (GRCm39)	I874F	probably damaging	Het
Taar7b	A	T	10: 23,876,050 (GRCm39)	I72F	probably damaging	Het
Tacc2	G	A	7: 130,225,129 (GRCm39)	V605I	probably benign	Het
Tef	T	C	15: 81,699,301 (GRCm39)	L34P	probably damaging	Het
Trak2	A	G	1: 58,949,204 (GRCm39)	V532A	probably benign	Het
Usp13	T	A	3: 32,973,209 (GRCm39)	D795E	probably damaging	Het
Vmn1r32	T	A	6: 66,529,913 (GRCm39)	I288F	probably benign	Het
Vmn1r75	T	C	7: 11,615,093 (GRCm39)	I275T	possibly damaging	Het
Zfp871	A	T	17: 32,993,329 (GRCm39)	F615L	probably benign	Het
Zfp941	G	A	7: 140,392,612 (GRCm39)	T249M	probably benign	Het
Zhx1	T	C	15: 57,917,137 (GRCm39)	I370V	probably damaging	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
IGL02441:Nlrp2	APN	7	5,338,566 (GRCm39)	critical splice donor site	probably null
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