Mutagenetix > Incidental Mutation

Incidental Mutation 'R1866:Nlrp2'

208721

Institutional Source

Beutler Lab

Gene Symbol

Nlrp2

Ensembl Gene

ENSMUSG00000035177

Gene Name

NLR family, pyrin domain containing 2

Synonyms

Nbs1, Pan1, PYPAF2, E330007A02Rik, Nalp2

MMRRC Submission

039889-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1866 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5298547-5351035 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 5327716 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 560 (C560*)

Ref Sequence

ENSEMBL: ENSMUSP00000045077 (fasta)

Gene Model

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

AlphaFold

Q4PLS0

Predicted Effect

probably null
Transcript: ENSMUST00000045022
AA Change: C560*

SMART Domains

Protein: ENSMUSP00000045077
Gene: ENSMUSG00000035177
AA Change: C560*

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: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	A	T	19: 23,892,831	E9V	probably benign	Het
Armc8	T	A	9: 99,536,280	T32S	probably benign	Het
Atr	T	A	9: 95,870,605		probably null	Het
Blm	A	G	7: 80,494,114	L859P	probably benign	Het
Cacna2d3	A	T	14: 28,969,214	F51L	probably damaging	Het
Cdcp2	A	G	4: 107,107,000	N349S	probably damaging	Het
Cfap57	G	A	4: 118,599,927	H442Y	possibly damaging	Het
Chrm3	A	G	13: 9,878,481	L173P	probably damaging	Het
Cpb1	C	G	3: 20,263,756	M201I	probably benign	Het
Dgcr8	A	T	16: 18,258,314	N2K	probably damaging	Het
Dnah3	A	T	7: 119,928,856		probably null	Het
Dnah6	T	A	6: 73,100,088	Q2398L	probably benign	Het
Dpep2	A	T	8: 105,989,448		probably null	Het
E430018J23Rik	A	G	7: 127,393,331	W36R	probably damaging	Het
Eif2ak4	C	A	2: 118,472,661	T1504K	probably damaging	Het
Exoc6b	A	G	6: 84,851,914	V496A	probably damaging	Het
Fam174a	A	C	1: 95,313,895	S27R	probably benign	Het
Fat2	T	A	11: 55,292,014	Q1339L	probably benign	Het
Fkbpl	T	A	17: 34,645,823	D188E	possibly damaging	Het
Focad	A	G	4: 88,407,165	D89G	possibly damaging	Het
Fstl4	C	A	11: 53,186,398	Q661K	probably benign	Het
Gck	T	C	11: 5,903,253	Y289C	probably benign	Het
Gm156	A	G	6: 129,775,380		probably null	Het
Gm16181	T	A	17: 35,223,937		probably benign	Het
Herc1	G	A	9: 66,450,791	G2385S	probably damaging	Het
Igfn1	T	C	1: 135,974,868		probably null	Het
Il12b	T	C	11: 44,408,526	W141R	probably damaging	Het
Itga6	T	A	2: 71,834,070	S517T	probably benign	Het
Kank1	A	G	19: 25,411,449	S801G	probably benign	Het
Lctl	A	G	9: 64,131,721	D205G	probably damaging	Het
Lhx3	A	C	2: 26,203,974	V79G	probably damaging	Het
Lrrc9	T	C	12: 72,497,138	I1127T	probably damaging	Het
Ltbp3	A	T	19: 5,747,849	E505D	probably benign	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Map6	A	G	7: 99,315,876	S291G	probably damaging	Het
Mapk7	A	G	11: 61,489,413	F671L	probably benign	Het
Mau2	A	G	8: 70,031,492	W149R	probably damaging	Het
Mb21d2	C	T	16: 28,828,515	V236I	possibly damaging	Het
Mc5r	C	G	18: 68,338,670		probably null	Het
Mical1	C	A	10: 41,485,470	P797Q	probably benign	Het
Mnx1	G	A	5: 29,474,045	R347C	unknown	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Npat	T	A	9: 53,563,116	L736H	probably damaging	Het
Nup155	T	A	15: 8,115,526	V147E	probably damaging	Het
Nxpe2	A	G	9: 48,326,821	F45L	probably benign	Het
Obscn	T	C	11: 59,060,915	D4370G	probably benign	Het
Olfr1000	T	A	2: 85,608,844	H22L	probably benign	Het
Olfr1047	A	C	2: 86,228,728	M81R	probably damaging	Het
Olfr1252	T	C	2: 89,721,206	K302E	probably benign	Het
Olfr1260	T	C	2: 89,978,327	L183S	probably damaging	Het
Olfr1425	A	G	19: 12,073,819	V271A	probably benign	Het
Olfr1532-ps1	A	G	7: 106,915,066	I289M	probably damaging	Het
Olfr658	A	G	7: 104,644,797	S190P	probably benign	Het
Pcx	T	C	19: 4,621,221	I1157T	possibly damaging	Het
Pias2	T	A	18: 77,152,716	S589R	probably benign	Het
Plcb1	T	C	2: 135,344,173	F687L	probably benign	Het
Plk5	G	T	10: 80,360,569		probably null	Het
Pnpla2	T	A	7: 141,455,416	Y44N	probably damaging	Het
Ppp1r12a	T	A	10: 108,262,431	D337E	possibly damaging	Het
Prl2c5	G	T	13: 13,190,773		probably null	Het
Prom2	T	C	2: 127,536,594	D460G	probably damaging	Het
Pros1	A	G	16: 62,928,135	H657R	possibly damaging	Het
Prune2	A	G	19: 17,123,492	E2120G	probably damaging	Het
Rap2a	T	A	14: 120,478,935	L70Q	probably damaging	Het
Rbl2	A	T	8: 91,112,529	E858D	probably benign	Het
Rbm48	T	C	5: 3,595,997	Y69C	probably damaging	Het
Rgs12	T	A	5: 34,965,674	I267N	probably damaging	Het
Rpusd2	G	T	2: 119,035,247	A142S	probably benign	Het
Rspo2	A	T	15: 43,075,936	W153R	probably damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Serinc5	T	A	13: 92,706,263	M407K	probably damaging	Het
Slain2	T	C	5: 72,957,322	S299P	probably damaging	Het
Slc17a4	A	G	13: 23,900,545	Y419H	possibly damaging	Het
Slc1a6	T	A	10: 78,791,349	D173E	probably damaging	Het
Slc22a19	A	T	19: 7,711,141	I18N	probably damaging	Het
Slc37a3	A	T	6: 39,359,968	F91L	probably damaging	Het
Spag5	C	A	11: 78,304,455	T196K	possibly damaging	Het
Susd2	G	T	10: 75,639,732	A326D	probably damaging	Het
Syna	G	T	5: 134,559,915	A60D	probably damaging	Het
Tchh	A	T	3: 93,447,760	E1502D	unknown	Het
Tecta	T	C	9: 42,392,024	H104R	probably damaging	Het
Tmed1	T	C	9: 21,509,091	D102G	probably damaging	Het
Trip12	T	C	1: 84,745,060	D128G	probably damaging	Het
Uroc1	A	G	6: 90,361,524	M656V	probably benign	Het
Usp47	T	A	7: 112,101,870	V1096D	possibly damaging	Het
Utp20	T	A	10: 88,762,770	K115*	probably null	Het
Vmn2r19	G	T	6: 123,331,638		probably null	Het
Vmn2r86	A	T	10: 130,446,386	V787D	probably damaging	Het
Vmn2r87	A	T	10: 130,472,572	I599N	possibly damaging	Het
Vwf	A	G	6: 125,667,529	D2449G	possibly damaging	Het
Zbtb7c	T	A	18: 76,136,906	C22S	probably benign	Het
Zc3h7a	A	G	16: 11,147,304	I655T	possibly damaging	Het

Other mutations in Nlrp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Nlrp2	APN	7	5337548	missense	probably benign	0.00
IGL00545:Nlrp2	APN	7	5328252	missense	possibly damaging	0.89
IGL01311:Nlrp2	APN	7	5319239	missense	possibly damaging	0.92
IGL01345:Nlrp2	APN	7	5317492	missense	probably benign	0.16
IGL01583:Nlrp2	APN	7	5337770	missense	probably damaging	1.00
IGL01659:Nlrp2	APN	7	5328035	missense	probably damaging	1.00
IGL02240:Nlrp2	APN	7	5327823	missense	probably damaging	1.00
IGL02353:Nlrp2	APN	7	5337599	missense	probably damaging	1.00
IGL02360:Nlrp2	APN	7	5337599	missense	probably damaging	1.00
IGL02399:Nlrp2	APN	7	5328810	missense	probably damaging	1.00
IGL02441:Nlrp2	APN	7	5335567	critical splice donor site	probably null
IGL02588:Nlrp2	APN	7	5327552	nonsense	probably null
IGL02803:Nlrp2	APN	7	5328318	missense	probably damaging	1.00
IGL02968:Nlrp2	APN	7	5301025	missense	possibly damaging	0.81
IGL03342:Nlrp2	APN	7	5317483	missense	probably damaging	1.00
BB006:Nlrp2	UTSW	7	5327499	missense	probably damaging	1.00
BB016:Nlrp2	UTSW	7	5327499	missense	probably damaging	1.00
R0027:Nlrp2	UTSW	7	5322448	missense	probably damaging	1.00
R0051:Nlrp2	UTSW	7	5322334	unclassified	probably benign
R0079:Nlrp2	UTSW	7	5327730	missense	possibly damaging	0.81
R0130:Nlrp2	UTSW	7	5322418	missense	possibly damaging	0.77
R0157:Nlrp2	UTSW	7	5308770	missense	possibly damaging	0.88
R0201:Nlrp2	UTSW	7	5328329	missense	probably benign	0.00
R0276:Nlrp2	UTSW	7	5328109	missense	probably benign	0.00
R0288:Nlrp2	UTSW	7	5328545	missense	probably benign	0.19
R0332:Nlrp2	UTSW	7	5317630	missense	probably damaging	1.00
R0724:Nlrp2	UTSW	7	5319222	missense	probably damaging	1.00
R1241:Nlrp2	UTSW	7	5328431	missense	probably damaging	1.00
R1355:Nlrp2	UTSW	7	5327491	missense	possibly damaging	0.81
R1392:Nlrp2	UTSW	7	5329015	splice site	probably benign
R1470:Nlrp2	UTSW	7	5300951	missense	probably benign	0.18
R1470:Nlrp2	UTSW	7	5300951	missense	probably benign	0.18
R1563:Nlrp2	UTSW	7	5308725	missense	probably damaging	1.00
R1942:Nlrp2	UTSW	7	5322448	missense	probably damaging	1.00
R1959:Nlrp2	UTSW	7	5327738	missense	probably damaging	1.00
R1960:Nlrp2	UTSW	7	5327738	missense	probably damaging	1.00
R1961:Nlrp2	UTSW	7	5327738	missense	probably damaging	1.00
R2072:Nlrp2	UTSW	7	5325006	missense	probably damaging	1.00
R2161:Nlrp2	UTSW	7	5325042	missense	probably damaging	1.00
R2190:Nlrp2	UTSW	7	5319238	missense	possibly damaging	0.95
R2243:Nlrp2	UTSW	7	5335598	missense	probably benign	0.03
R2277:Nlrp2	UTSW	7	5328129	missense	probably benign
R2334:Nlrp2	UTSW	7	5337535	missense	probably benign	0.39
R3030:Nlrp2	UTSW	7	5327748	missense	probably damaging	1.00
R3404:Nlrp2	UTSW	7	5319287	missense	probably benign	0.01
R3941:Nlrp2	UTSW	7	5327552	nonsense	probably null
R4021:Nlrp2	UTSW	7	5325012	missense	probably benign	0.40
R4518:Nlrp2	UTSW	7	5325056	missense	possibly damaging	0.85
R4666:Nlrp2	UTSW	7	5319189	missense	probably benign	0.18
R4767:Nlrp2	UTSW	7	5328024	missense	probably damaging	1.00
R4827:Nlrp2	UTSW	7	5328951	missense	possibly damaging	0.60
R4873:Nlrp2	UTSW	7	5298859	missense	probably benign	0.09
R4875:Nlrp2	UTSW	7	5298859	missense	probably benign	0.09
R5020:Nlrp2	UTSW	7	5328077	missense	probably damaging	1.00
R5293:Nlrp2	UTSW	7	5327615	missense	probably damaging	1.00
R5310:Nlrp2	UTSW	7	5325008	missense	probably benign	0.00
R5336:Nlrp2	UTSW	7	5328119	missense	probably benign
R5390:Nlrp2	UTSW	7	5300909	missense	probably benign	0.00
R5864:Nlrp2	UTSW	7	5322381	missense	probably damaging	1.00
R5913:Nlrp2	UTSW	7	5324903	splice site	probably null
R6173:Nlrp2	UTSW	7	5337809	missense	probably damaging	0.96
R6274:Nlrp2	UTSW	7	5317555	missense	probably damaging	1.00
R6303:Nlrp2	UTSW	7	5337761	missense	probably damaging	1.00
R6343:Nlrp2	UTSW	7	5300926	missense	possibly damaging	0.82
R6704:Nlrp2	UTSW	7	5325041	nonsense	probably null
R6814:Nlrp2	UTSW	7	5308710	missense	probably benign	0.01
R6872:Nlrp2	UTSW	7	5308710	missense	probably benign	0.01
R7023:Nlrp2	UTSW	7	5328229	nonsense	probably null
R7028:Nlrp2	UTSW	7	5328572	missense	possibly damaging	0.93
R7109:Nlrp2	UTSW	7	5328617	missense	probably damaging	1.00
R7203:Nlrp2	UTSW	7	5317534	missense	probably damaging	1.00
R7322:Nlrp2	UTSW	7	5308645	missense	possibly damaging	0.94
R7339:Nlrp2	UTSW	7	5327628	missense	possibly damaging	0.95
R7573:Nlrp2	UTSW	7	5317469	critical splice donor site	probably null
R7657:Nlrp2	UTSW	7	5319168	missense	probably benign	0.01
R7929:Nlrp2	UTSW	7	5327499	missense	probably damaging	1.00
R7964:Nlrp2	UTSW	7	5328528	missense	probably damaging	1.00
R8097:Nlrp2	UTSW	7	5327651	missense	probably damaging	1.00
R8276:Nlrp2	UTSW	7	5317495	missense	probably benign	0.40
R8785:Nlrp2	UTSW	7	5327549	missense	probably damaging	0.99
R8798:Nlrp2	UTSW	7	5327888	missense	possibly damaging	0.86
R8982:Nlrp2	UTSW	7	5324979	missense	probably damaging	1.00
R9030:Nlrp2	UTSW	7	5322458	missense	probably null	0.00
R9038:Nlrp2	UTSW	7	5327479	missense	probably benign	0.14
R9149:Nlrp2	UTSW	7	5327573	missense	probably benign	0.01
R9229:Nlrp2	UTSW	7	5301053	missense	possibly damaging	0.81
R9584:Nlrp2	UTSW	7	5319216	missense	probably damaging	1.00
X0027:Nlrp2	UTSW	7	5327642	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGCATGAATGAGGTCAGTGCTG -3'
(R):5'- TCGGTATCCAGCAACTCCTG -3'

Sequencing Primer
(F):5'- GGTTTTCAAATGCAAGGAGATGTCC -3'
(R):5'- CCTGGCTGCAATAATATTTGTTCAGG -3'

Posted On

2014-06-30