Mutagenetix > Incidental Mutation

Incidental Mutation 'R6303:Nlrp2'

509152

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

044410-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6303 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5301546-5354034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5340760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 18 (L18P)

Ref Sequence

ENSEMBL: ENSMUSP00000045077 (fasta)

Gene Model

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

AlphaFold

Q4PLS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000045022
AA Change: L18P

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

SMART Domains

Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177
AA Change: L18P

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

Meta Mutation Damage Score

0.6450

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (43/44)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol9b	T	A	15: 77,619,504 (GRCm39)	V100E	probably damaging	Het
Bin3	A	G	14: 70,374,625 (GRCm39)	D218G	possibly damaging	Het
Cobll1	A	T	2: 64,928,377 (GRCm39)	M982K	possibly damaging	Het
Crybg2	T	C	4: 133,814,898 (GRCm39)	V1593A	possibly damaging	Het
Ctsh	A	G	9: 89,944,796 (GRCm39)	S76G	possibly damaging	Het
Dnajc10	T	G	2: 80,181,008 (GRCm39)	D767E	probably benign	Het
Elapor1	A	C	3: 108,368,572 (GRCm39)	C806W	probably damaging	Het
Etaa1	A	C	11: 17,897,505 (GRCm39)	M204R	probably damaging	Het
Fbxw16	A	T	9: 109,278,169 (GRCm39)	I3N	probably benign	Het
Fndc1	T	C	17: 7,977,317 (GRCm39)	E1394G	probably damaging	Het
Gm19410	T	C	8: 36,274,714 (GRCm39)	C1512R	possibly damaging	Het
Gramd4	A	G	15: 86,019,120 (GRCm39)	E596G	possibly damaging	Het
Hephl1	C	A	9: 15,001,448 (GRCm39)	V226F	possibly damaging	Het
Ilf3	G	A	9: 21,314,432 (GRCm39)		probably benign	Het
Kcnh3	T	C	15: 99,124,919 (GRCm39)	V123A	probably benign	Het
Kdm2b	A	G	5: 123,019,807 (GRCm39)	S260P	probably benign	Het
Lingo4	G	A	3: 94,310,513 (GRCm39)	G484R	probably damaging	Het
Lrrc10b	T	C	19: 10,434,342 (GRCm39)	Q113R	probably benign	Het
Lrrc8c	A	T	5: 105,756,475 (GRCm39)	N750I	probably benign	Het
Mtcl2	T	C	2: 156,882,684 (GRCm39)	N456S	possibly damaging	Het
Nrp2	T	C	1: 62,784,565 (GRCm39)	L238P	probably damaging	Het
Nup155	T	C	15: 8,147,526 (GRCm39)	S262P	probably damaging	Het
Or51k1	G	A	7: 103,661,238 (GRCm39)	L224F	probably damaging	Het
Pappa	G	A	4: 65,122,891 (GRCm39)	G742D	probably damaging	Het
Pclo	A	T	5: 14,727,907 (GRCm39)		probably benign	Het
Phyhipl	A	G	10: 70,395,387 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,603,383 (GRCm39)	T1185A	possibly damaging	Het
Plscr5	A	T	9: 92,087,609 (GRCm39)	I193F	probably benign	Het
Polr1b	G	A	2: 128,957,682 (GRCm39)	R579H	probably damaging	Het
Polr2a	A	T	11: 69,637,739 (GRCm39)	W202R	probably damaging	Het
Ppp4r1	A	G	17: 66,131,724 (GRCm39)	K489E	probably benign	Het
Qser1	G	A	2: 104,593,175 (GRCm39)	T1704I	probably damaging	Het
Sik1	A	G	17: 32,065,270 (GRCm39)	V776A	probably damaging	Het
Spata31h1	T	A	10: 82,126,202 (GRCm39)	K2269N	possibly damaging	Het
Spice1	A	G	16: 44,191,060 (GRCm39)	M305V	probably benign	Het
Taf4b	T	C	18: 14,940,412 (GRCm39)	I297T	probably damaging	Het
Trim14	C	A	4: 46,522,118 (GRCm39)	M186I	probably benign	Het
Usp49	C	A	17: 47,991,747 (GRCm39)	Q670K	probably damaging	Het
Usp54	T	C	14: 20,611,036 (GRCm39)	D1260G	possibly damaging	Het
Vmn1r224	T	A	17: 20,640,028 (GRCm39)	S202T	possibly damaging	Het
Vmn1r3	T	A	4: 3,184,975 (GRCm39)	T111S	probably damaging	Het
Zfp985	A	G	4: 147,668,232 (GRCm39)	I367V	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
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

Predicted Primers

PCR Primer
(F):5'- CAGCTAGATCTACACGGTTTATTTC -3'
(R):5'- AATTTGCTGTTAAAGGGGCAGG -3'

Sequencing Primer
(F):5'- TCCTCTAAGATCTGGACGGTGAC -3'
(R):5'- AAACTGTGCTGATGACCCCTG -3'

Posted On

2018-04-02