Mutagenetix > Incidental Mutation

Incidental Mutation 'R7964:Nlrp2'

650262

Institutional Source

Beutler Lab

Gene Symbol

Nlrp2

Ensembl Gene

ENSMUSG00000035177

Gene Name

NLR family, pyrin domain containing 2

Synonyms

Pan1, Nbs1, E330007A02Rik, PYPAF2, Nalp2

MMRRC Submission

046007-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7964 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5301546-5354034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 5331527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 290 (L290V)

Ref Sequence

ENSEMBL: ENSMUSP00000045077 (fasta)

Gene Model

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

AlphaFold

Q4PLS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000045022
AA Change: L290V

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

SMART Domains

Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177
AA Change: L290V

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,266,146 (GRCm39)	M3042L	probably benign	Het
Abca3	T	A	17: 24,621,410 (GRCm39)	L1345Q	probably benign	Het
Adam20	G	T	8: 41,249,944 (GRCm39)	V685F	probably damaging	Het
Adam25	T	A	8: 41,208,576 (GRCm39)	I614N	probably damaging	Het
Aldh1a7	C	T	19: 20,677,371 (GRCm39)	V417M	probably damaging	Het
Aldh1a7	C	T	19: 20,693,406 (GRCm39)	G171D	probably benign	Het
Aloxe3	T	C	11: 69,017,362 (GRCm39)	F45S	probably damaging	Het
Ankrd26	T	C	6: 118,500,160 (GRCm39)	I1104V	probably benign	Het
Ap3d1	C	A	10: 80,565,891 (GRCm39)	R92L	probably damaging	Het
Aspm	A	G	1: 139,408,424 (GRCm39)	Q2437R	probably damaging	Het
Bcl11a	T	C	11: 24,113,353 (GRCm39)	I232T	probably benign	Het
Cdcp3	G	T	7: 130,899,963 (GRCm39)	R2102L	unknown	Het
Cemip2	T	C	19: 21,775,794 (GRCm39)		probably null	Het
Cfap97	A	G	8: 46,623,237 (GRCm39)	D209G	possibly damaging	Het
Csmd2	A	G	4: 128,417,303 (GRCm39)	M2754V		Het
Dcdc2c	A	G	12: 28,520,318 (GRCm39)	I586T		Het
Dkk4	T	C	8: 23,115,368 (GRCm39)	C73R	probably damaging	Het
Dnai3	T	C	3: 145,774,531 (GRCm39)	N439D	probably benign	Het
Dzip3	T	C	16: 48,772,268 (GRCm39)	D467G	probably damaging	Het
Eif5	T	C	12: 111,506,608 (GRCm39)	F67L	probably benign	Het
Elmod1	A	G	9: 53,838,860 (GRCm39)	I100T	probably benign	Het
Gm9837	A	G	11: 53,361,001 (GRCm39)	L71P	unknown	Het
Hpse	A	G	5: 100,846,777 (GRCm39)		probably null	Het
Insc	T	C	7: 114,445,708 (GRCm39)	L472P	probably damaging	Het
Itgax	A	C	7: 127,739,590 (GRCm39)		probably null	Het
Lair1	A	G	7: 4,013,803 (GRCm39)	V148A	probably benign	Het
Lama2	A	G	10: 27,099,977 (GRCm39)		probably null	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lgr5	T	C	10: 115,288,079 (GRCm39)	D855G	probably benign	Het
Lrp1	C	A	10: 127,410,913 (GRCm39)	R1425L	possibly damaging	Het
Lrp1b	A	G	2: 40,488,523 (GRCm39)	S4521P		Het
Nbas	A	G	12: 13,406,896 (GRCm39)	Y831C	probably damaging	Het
Nek9	C	A	12: 85,385,787 (GRCm39)	R70L	probably benign	Het
Nos1	T	A	5: 118,038,607 (GRCm39)	I480N	probably damaging	Het
Or4a80	T	C	2: 89,583,158 (GRCm39)	N5D	possibly damaging	Het
Pcdhb13	C	A	18: 37,577,871 (GRCm39)	Q750K	possibly damaging	Het
Pik3c2g	C	T	6: 139,827,786 (GRCm39)	T727I		Het
Pik3r6	C	A	11: 68,424,565 (GRCm39)	P390Q	probably benign	Het
Pramel1	T	C	4: 143,123,810 (GRCm39)	S162P	probably benign	Het
Psg21	A	G	7: 18,381,136 (GRCm39)	M469T	probably benign	Het
Psg27	A	T	7: 18,299,124 (GRCm39)	W66R	probably damaging	Het
Sbno2	A	G	10: 79,904,185 (GRCm39)	C371R	probably damaging	Het
Shroom1	G	T	11: 53,355,149 (GRCm39)	K329N	possibly damaging	Het
Slc35a3	A	G	3: 116,480,984 (GRCm39)	I93T	possibly damaging	Het
Slc38a2	G	A	15: 96,590,453 (GRCm39)	T297M	probably benign	Het
Sorl1	T	A	9: 41,902,697 (GRCm39)	D1620V	probably damaging	Het
Srsf4	T	A	4: 131,618,544 (GRCm39)	L45Q	probably benign	Het
Tcaf2	G	A	6: 42,606,640 (GRCm39)	S438L	probably benign	Het
Trappc11	T	A	8: 47,979,979 (GRCm39)	I186L	possibly damaging	Het
Usp9y	A	T	Y: 1,316,914 (GRCm39)	N1878K	probably benign	Het
Zfp280d	T	A	9: 72,229,740 (GRCm39)	M349K	probably damaging	Het
Zgpat	A	G	2: 181,020,274 (GRCm39)	H227R	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAGAGCTCTAAGTGCCTTTC -3'
(R):5'- TGCCTTCTACATCAGCTGCAG -3'

Sequencing Primer
(F):5'- GAGCTCTAAGTGCCTTTCCCTCAC -3'
(R):5'- CTTCTACATCAGCTGCAGGGAAG -3'

Posted On

2020-09-15