Mutagenetix > Incidental Mutation

Incidental Mutation 'R7109:Nlrp2'

551389

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

045201-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7109 (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 G at 5331616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 260 (V260A)

Ref Sequence

ENSEMBL: ENSMUSP00000045077 (fasta)

Gene Model

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

AlphaFold

Q4PLS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000045022
AA Change: V260A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177
AA Change: V260A

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: 100.0%
10x: 99.7%
20x: 99.1%

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
4921509C19Rik	T	G	2: 151,315,673 (GRCm39)	K2Q	probably damaging	Het
Abtb2	T	C	2: 103,545,860 (GRCm39)	Y903H	probably benign	Het
Adamtsl3	C	T	7: 82,261,069 (GRCm39)	P29S		Het
Alcam	T	A	16: 52,097,192 (GRCm39)	T355S	probably damaging	Het
Anapc1	A	G	2: 128,516,522 (GRCm39)	V404A	probably benign	Het
Bst2	A	G	8: 71,989,926 (GRCm39)	F49S	possibly damaging	Het
C1qtnf9	G	C	14: 61,017,019 (GRCm39)	W183S	probably benign	Het
Camsap3	A	G	8: 3,648,087 (GRCm39)	I132V	possibly damaging	Het
Cchcr1	T	A	17: 35,828,838 (GRCm39)		probably null	Het
Cenpk	A	G	13: 104,367,256 (GRCm39)	K31E	probably benign	Het
Cfap221	T	C	1: 119,853,301 (GRCm39)	K798E	possibly damaging	Het
Copb2	T	A	9: 98,463,333 (GRCm39)		probably null	Het
Dennd1a	T	A	2: 37,938,804 (GRCm39)	Y102F	probably damaging	Het
Eif2ak4	C	T	2: 118,235,532 (GRCm39)	P88S	probably damaging	Het
Epha6	C	A	16: 59,503,031 (GRCm39)	V959F	probably damaging	Het
Fam193a	C	A	5: 34,623,165 (GRCm39)	T1251K	possibly damaging	Het
Herc1	A	T	9: 66,389,171 (GRCm39)	Q3896L	probably benign	Het
Ikbip	C	A	10: 90,919,090 (GRCm39)	D34E	probably benign	Het
Insr	A	G	8: 3,308,481 (GRCm39)	V185A	probably benign	Het
Jakmip1	C	T	5: 37,332,109 (GRCm39)	Q930*	probably null	Het
Klc1	A	G	12: 111,743,299 (GRCm39)	I209V	probably benign	Het
Lrrk2	T	A	15: 91,648,985 (GRCm39)	L1660M	probably damaging	Het
Mbd3l1	G	T	9: 18,396,210 (GRCm39)	D112Y	possibly damaging	Het
Mrps2	T	A	2: 28,358,258 (GRCm39)	V16E	probably benign	Het
Ncoa1	G	A	12: 4,372,978 (GRCm39)	T141I	possibly damaging	Het
Ndst2	G	T	14: 20,779,911 (GRCm39)	R110S	probably damaging	Het
Or4d10	A	G	19: 12,051,576 (GRCm39)	I140T	probably benign	Het
Or51a6	A	T	7: 102,604,460 (GRCm39)	V116E	probably damaging	Het
Or5p1	A	G	7: 107,916,959 (GRCm39)	N286S	probably damaging	Het
Or7g16	A	T	9: 18,726,904 (GRCm39)	S229T	probably benign	Het
Pah	T	C	10: 87,406,148 (GRCm39)	V262A	probably damaging	Het
Pcnt	T	G	10: 76,205,738 (GRCm39)	E2538A	probably damaging	Het
Pdxk	T	A	10: 78,282,810 (GRCm39)	I162F	probably damaging	Het
Plod2	T	C	9: 92,455,650 (GRCm39)	F110L	probably damaging	Het
Pm20d2	A	T	4: 33,187,186 (GRCm39)	L154Q	probably damaging	Het
Podxl2	C	T	6: 88,820,566 (GRCm39)	V445I	possibly damaging	Het
Ppp1r3a	A	T	6: 14,719,235 (GRCm39)	W560R	probably benign	Het
Rasal3	A	G	17: 32,611,683 (GRCm39)	S815P	probably damaging	Het
Rdm1	A	G	11: 101,524,654 (GRCm39)	K196E	probably damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Scn1a	T	C	2: 66,181,286 (GRCm39)	D79G	possibly damaging	Het
Slc22a21	A	G	11: 53,870,329 (GRCm39)	Y119H	possibly damaging	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Synrg	C	A	11: 83,930,498 (GRCm39)	A1280E	possibly damaging	Het
Szt2	A	G	4: 118,232,676 (GRCm39)	C2396R	unknown	Het
Trappc3	A	G	4: 126,167,726 (GRCm39)	N95S	probably benign	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Ush2a	T	A	1: 188,113,681 (GRCm39)	D633E	probably benign	Het
Wasl	G	A	6: 24,633,186 (GRCm39)	P151S	probably benign	Het
Wwp2	A	G	8: 108,209,988 (GRCm39)	N122S	probably benign	Het
Zfp51	A	G	17: 21,683,831 (GRCm39)	R149G	possibly damaging	Het
Zfp764	A	G	7: 127,003,887 (GRCm39)	S415P	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- CCATCATGACAAAGATTTGGTGC -3'
(R):5'- GGCTCTGGGAAAACCACAATG -3'

Sequencing Primer
(F):5'- AAGATTTGGTGCAAAGACTGTGTCC -3'
(R):5'- CAAAGCAGCTAATGTTAGAATGGTC -3'

Posted On

2019-05-15