Mutagenetix > Incidental Mutation

Incidental Mutation 'R4518:Nlrp2'

334068

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

041762-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4518 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5301546-5354034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5328055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 666 (D666V)

Ref Sequence

ENSEMBL: ENSMUSP00000045077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045022] [ENSMUST00000207520]

AlphaFold

Q4PLS0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045022
AA Change: D666V

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177
AA Change: D666V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207520

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (60/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	T	A	5: 30,311,006 (GRCm39)		probably null	Het
Abr	A	G	11: 76,363,344 (GRCm39)	S167P	possibly damaging	Het
Adamtsl2	T	C	2: 26,985,559 (GRCm39)	L481P	probably benign	Het
Atp8b3	C	T	10: 80,359,681 (GRCm39)	M984I	probably benign	Het
Brip1	G	A	11: 85,968,704 (GRCm39)	A827V	possibly damaging	Het
Carns1	T	G	19: 4,220,069 (GRCm39)	T389P	probably benign	Het
Ccdc88a	T	C	11: 29,432,651 (GRCm39)	I1219T	probably benign	Het
Cckar	T	C	5: 53,857,264 (GRCm39)	N311S	probably damaging	Het
Cenpc1	A	G	5: 86,195,446 (GRCm39)	S108P	possibly damaging	Het
Chpf	G	T	1: 75,451,689 (GRCm39)	S588R	probably damaging	Het
Clca3a2	T	A	3: 144,514,466 (GRCm39)	T414S	probably damaging	Het
Cntrl	A	G	2: 35,038,986 (GRCm39)	E1092G	probably damaging	Het
Crb2	C	A	2: 37,680,401 (GRCm39)	T443K	probably damaging	Het
Crppa	G	A	12: 36,523,179 (GRCm39)	V203I	possibly damaging	Het
Cwf19l1	A	G	19: 44,121,473 (GRCm39)	V25A	probably damaging	Het
Cyb561d1	T	C	3: 108,106,887 (GRCm39)	I111V	possibly damaging	Het
Dbn1	A	T	13: 55,624,042 (GRCm39)	I350N	possibly damaging	Het
Dnajb4	T	C	3: 151,890,813 (GRCm39)	I329V	probably benign	Het
Dnmt1	G	T	9: 20,823,274 (GRCm39)	D1055E	probably benign	Het
Fam168a	C	T	7: 100,483,247 (GRCm39)	A176V	probably damaging	Het
Farp2	A	G	1: 93,548,363 (GRCm39)	E1016G	probably benign	Het
Fibcd1	A	T	2: 31,707,207 (GRCm39)	V350E	probably damaging	Het
Galnt3	C	A	2: 65,923,954 (GRCm39)	R438L	probably damaging	Het
Golga4	T	A	9: 118,388,076 (GRCm39)	S1733T	probably benign	Het
Golgb1	G	A	16: 36,749,625 (GRCm39)	E3076K	probably damaging	Het
Grm7	A	G	6: 110,891,507 (GRCm39)		probably null	Het
Hcn2	T	C	10: 79,560,536 (GRCm39)	V289A	probably benign	Het
Hipk1	G	T	3: 103,657,688 (GRCm39)	H799N	probably damaging	Het
Klf14	A	G	6: 30,934,867 (GRCm39)	S256P	possibly damaging	Het
Muc6	T	A	7: 141,230,489 (GRCm39)	T1214S	probably benign	Het
Ntng1	A	G	3: 109,842,329 (GRCm39)	I148T	probably damaging	Het
Or4k35	T	C	2: 111,100,263 (GRCm39)	M150V	probably benign	Het
Or7d9	A	G	9: 20,197,546 (GRCm39)	I184V	probably benign	Het
Or7g27	T	A	9: 19,250,556 (GRCm39)	S267T	possibly damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pacs2	A	G	12: 113,024,289 (GRCm39)	D360G	probably benign	Het
Parp8	C	A	13: 117,032,209 (GRCm39)	L321F	possibly damaging	Het
Pdss2	T	A	10: 43,248,146 (GRCm39)	S217T	probably damaging	Het
Plekhn1	T	C	4: 156,309,988 (GRCm39)	S109G	probably damaging	Het
Prlr	C	A	15: 10,329,085 (GRCm39)	T520K	possibly damaging	Het
Prokr2	T	A	2: 132,216,012 (GRCm39)		probably null	Het
Rab3gap2	G	A	1: 184,999,265 (GRCm39)	V991I	probably benign	Het
Reln	T	C	5: 22,106,741 (GRCm39)	I3210V	probably benign	Het
Rims2	T	C	15: 39,300,922 (GRCm39)	Y218H	probably damaging	Het
Slc41a1	T	C	1: 131,766,863 (GRCm39)	V127A	probably damaging	Het
St8sia6	T	A	2: 13,797,562 (GRCm39)		probably null	Het
Tlr6	A	G	5: 65,112,247 (GRCm39)	F220S	possibly damaging	Het
Trmt1l	C	T	1: 151,324,094 (GRCm39)	Q314*	probably null	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vnn3	G	A	10: 23,743,124 (GRCm39)	V445M	possibly damaging	Het
Ypel1	A	T	16: 16,913,905 (GRCm39)	F173I	possibly damaging	Het
Zfhx4	T	C	3: 5,477,578 (GRCm39)	C3398R	probably damaging	Het
Zfyve16	T	C	13: 92,657,820 (GRCm39)	E697G	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
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

Predicted Primers

PCR Primer
(F):5'- TACTTACACCACTTTCTGGAGAC -3'
(R):5'- CAACAACCCATCTGGATGCTG -3'

Sequencing Primer
(F):5'- CCACTTTCTGGAGACAACAGG -3'
(R):5'- GGTCATGAATGCCTATAACCTCGG -3'

Posted On

2015-08-18