Mutagenetix > Incidental Mutations

Incidental Mutation 'R5369:Nlrp1b'

429561

Institutional Source

Beutler Lab

Gene Symbol

Nlrp1b

Ensembl Gene

ENSMUSG00000070390

Gene Name

NLR family, pyrin domain containing 1B

Synonyms

Nalp1b

MMRRC Submission

042946-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5369 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71153102-71230733 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71181799 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 406 (I406T)

Ref Sequence

ENSEMBL: ENSMUSP00000104155 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094046] [ENSMUST00000108514] [ENSMUST00000108515] [ENSMUST00000108516] [ENSMUST00000136493]

Predicted Effect

probably benign
Transcript: ENSMUST00000094046

SMART Domains

Protein: ENSMUSP00000091588
Gene: ENSMUSG00000070390

Domain	Start	End	E-Value	Type
Pfam:NACHT	131	300	6.7e-43	PFAM
LRR	627	654	2.24e0	SMART
LRR	656	683	8.82e0	SMART
LRR	684	711	3.49e-5	SMART
Pfam:FIIND	812	1064	8.2e-104	PFAM
Pfam:CARD	1083	1166	3.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108514
AA Change: I406T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104154
Gene: ENSMUSG00000070390
AA Change: I406T

Domain	Start	End	E-Value	Type
Pfam:NACHT	131	300	2.1e-40	PFAM
LRR	630	657	2.24e0	SMART
LRR	659	686	8.82e0	SMART
LRR	687	714	3.49e-5	SMART
Pfam:FIIND	814	1068	2.4e-136	PFAM
Pfam:CARD	1086	1169	3.7e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108515
AA Change: I406T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104155
Gene: ENSMUSG00000070390
AA Change: I406T

Domain	Start	End	E-Value	Type
Pfam:NACHT	131	300	6.9e-41	PFAM
LRR	630	657	2.24e0	SMART
LRR	659	686	8.82e0	SMART
LRR	687	714	3.49e-5	SMART
Pfam:FIIND	815	1067	5e-104	PFAM
Pfam:CARD	1086	1169	1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108516

SMART Domains

Protein: ENSMUSP00000104156
Gene: ENSMUSG00000070390

Domain	Start	End	E-Value	Type
Pfam:NACHT	131	300	2.2e-42	PFAM
LRR	627	654	2.24e0	SMART
LRR	656	683	8.82e0	SMART
LRR	684	711	3.49e-5	SMART
Pfam:FIIND	811	1065	3.9e-136	PFAM
Pfam:CARD	1083	1166	1.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136493

SMART Domains

Protein: ENSMUSP00000121155
Gene: ENSMUSG00000070390

Domain	Start	End	E-Value	Type
Pfam:NACHT	131	300	8.9e-43	PFAM
PDB:4IM6\|A	610	662	6e-10	PDB
Blast:LRR	627	654	3e-11	BLAST

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit protection from anthrax lethal toxin-induced lung injury and pyroptosis of macrophages. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	T	A	6: 41,033,006	R131S	probably benign	Het
A2ml1	T	C	6: 128,568,833	T444A	probably damaging	Het
A330070K13Rik	G	A	5: 130,379,091		probably benign	Het
Abcb8	C	T	5: 24,400,139	R108C	possibly damaging	Het
Acbd5	T	A	2: 23,112,510	L508Q	probably damaging	Het
Asb15	T	C	6: 24,562,564	V175A	probably benign	Het
B3galnt2	T	C	13: 13,994,425		probably null	Het
BC024139	A	C	15: 76,120,222	S711R	probably benign	Het
Bod1l	A	G	5: 41,827,183	I508T	probably damaging	Het
Btnl6	T	A	17: 34,507,985	R524*	probably null	Het
C3	C	A	17: 57,221,159	D687Y	probably benign	Het
Ccbe1	G	A	18: 66,061,414	A367V	probably benign	Het
Ccr1	A	T	9: 123,964,289	M68K	probably damaging	Het
Cd27	T	A	6: 125,234,364		probably benign	Het
Celf2	C	A	2: 7,081,081		probably benign	Het
Cfap54	T	C	10: 93,061,257		probably benign	Het
Cfap97	A	G	8: 46,169,650	K26E	probably damaging	Het
Clcn4	T	A	7: 7,296,033	I48F	probably benign	Het
Cnot7	A	T	8: 40,494,020	N238K	probably benign	Het
Colec12	A	G	18: 9,866,750	I654V	unknown	Het
Dip2a	A	G	10: 76,292,360	I22T	probably damaging	Het
Eif4g3	C	T	4: 138,183,334	T1375M	possibly damaging	Het
Eml5	C	T	12: 98,858,783	G725D	probably damaging	Het
F12	T	C	13: 55,418,491	E496G	probably benign	Het
Fam227a	A	T	15: 79,615,436	S573T	probably benign	Het
Fnip1	T	C	11: 54,502,589	V593A	probably benign	Het
Focad	T	A	4: 88,121,373		probably benign	Het
Frem1	A	G	4: 83,001,739	I460T	possibly damaging	Het
Galnt10	T	G	11: 57,765,747		probably null	Het
Gm5592	A	T	7: 41,218,211		probably benign	Het
Gm6185	A	T	1: 161,209,760		noncoding transcript	Het
Gm7935	A	T	15: 74,081,114		noncoding transcript	Het
Grb14	C	T	2: 64,917,309	V369I	probably benign	Het
Gstm5	G	A	3: 107,898,466	A198T	probably damaging	Het
Herc2	T	A	7: 56,182,700	V3048D	probably damaging	Het
Htra4	T	G	8: 25,033,569	I327L	possibly damaging	Het
Ifi209	T	C	1: 173,637,307	M1T	probably null	Het
Ints6	T	C	14: 62,743,935	T135A	probably damaging	Het
Itpr1	T	A	6: 108,519,424	I2604N	probably damaging	Het
Krt6a	T	A	15: 101,692,558	M268L	probably benign	Het
Lrp1b	G	T	2: 41,004,613	S2201*	probably null	Het
Lrp2	T	C	2: 69,459,560	N3645S	probably benign	Het
Lrrc15	A	T	16: 30,272,904	I539N	possibly damaging	Het
Map3k6	T	C	4: 133,247,681	I675T	probably damaging	Het
Map3k9	T	A	12: 81,722,052	E1074V	probably damaging	Het
Med13l	T	A	5: 118,724,010	S339R	probably benign	Het
Mrps18a	T	C	17: 46,125,626		probably benign	Het
Nat8f2	G	T	6: 85,867,872	Y169*	probably null	Het
Npc1l1	A	G	11: 6,217,705		probably null	Het
Olfr202	A	T	16: 59,284,380	M39K	probably damaging	Het
Olfr419	A	G	1: 174,250,441	V162A	probably damaging	Het
Ostf1	C	T	19: 18,581,325	G198E	probably benign	Het
Pcsk5	A	G	19: 17,581,255	V596A	probably damaging	Het
Pde4c	T	C	8: 70,750,105	*647Q	probably null	Het
Pkm	A	T	9: 59,670,634	I245F	probably damaging	Het
Ptprj	T	C	2: 90,469,641	H179R	probably benign	Het
Rapgef2	A	T	3: 79,069,432	S1356T	probably benign	Het
Rbm45	T	A	2: 76,370,250	L41Q	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Scara5	CG	C	14: 65,759,662		probably null	Het
Scel	A	T	14: 103,586,493	I386F	probably benign	Het
Serpinb5	A	T	1: 106,881,757	N298Y	possibly damaging	Het
Sirt3	A	T	7: 140,869,493	L180Q	probably damaging	Het
Slc24a2	C	T	4: 86,991,388	V698I	probably damaging	Het
Slc43a3	A	T	2: 84,957,723	H483L	probably damaging	Het
Snrnp35	A	G	5: 124,490,199	D25G	probably benign	Het
Snrnp40	T	C	4: 130,362,646	S55P	probably damaging	Het
Snx9	T	A	17: 5,920,580	C399S	probably damaging	Het
Soga1	T	C	2: 157,040,734	E466G	probably damaging	Het
Ttbk2	T	C	2: 120,825,262		probably benign	Het
Vmn1r1	A	G	1: 182,157,776	V108A	possibly damaging	Het
Vmn1r201	T	A	13: 22,475,502	N295K	probably benign	Het
Zfp292	G	A	4: 34,807,491	P1851L	possibly damaging	Het
Zfp472	A	T	17: 32,977,743	D264V	probably damaging	Het

Other mutations in Nlrp1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Nlrp1b	APN	11	71181181	intron	probably benign
IGL00571:Nlrp1b	APN	11	71163973	missense	probably null	0.48
IGL01358:Nlrp1b	APN	11	71181856	missense	possibly damaging	0.91
IGL01937:Nlrp1b	APN	11	71181407	missense	probably damaging	0.98
IGL01945:Nlrp1b	APN	11	71181407	missense	probably damaging	0.98
IGL02375:Nlrp1b	APN	11	71161680	missense	probably damaging	1.00
IGL02552:Nlrp1b	APN	11	71182052	missense	possibly damaging	0.57
IGL02552:Nlrp1b	APN	11	71172231	missense	possibly damaging	0.96
IGL02588:Nlrp1b	APN	11	71182279	nonsense	probably null
IGL02833:Nlrp1b	APN	11	71161172	missense	probably benign
IGL02955:Nlrp1b	APN	11	71169811	missense	possibly damaging	0.73
IGL03002:Nlrp1b	APN	11	71168859	missense	probably benign	0.00
IGL03033:Nlrp1b	APN	11	71161839	missense	probably benign	0.22
IGL03122:Nlrp1b	APN	11	71181833	missense	probably benign	0.00
IGL03131:Nlrp1b	APN	11	71161915	missense	possibly damaging	0.82
androcles	UTSW	11	71172075	nonsense	probably null
Fangled	UTSW	11	71172171	missense	possibly damaging	0.94
glitz	UTSW	11	71181550	missense	possibly damaging	0.89
honeydew	UTSW	11	71217884	missense	possibly damaging	0.93
Mush	UTSW	11	71156079	missense	probably damaging	1.00
R0001:Nlrp1b	UTSW	11	71161759	missense	probably damaging	1.00
R0022:Nlrp1b	UTSW	11	71161929	missense	possibly damaging	0.61
R0022:Nlrp1b	UTSW	11	71161929	missense	possibly damaging	0.61
R0038:Nlrp1b	UTSW	11	71172171	missense	possibly damaging	0.94
R0038:Nlrp1b	UTSW	11	71172171	missense	possibly damaging	0.94
R0164:Nlrp1b	UTSW	11	71164099	missense	probably damaging	1.00
R0164:Nlrp1b	UTSW	11	71164099	missense	probably damaging	1.00
R0271:Nlrp1b	UTSW	11	71161765	missense	possibly damaging	0.51
R0464:Nlrp1b	UTSW	11	71218244	missense	probably damaging	1.00
R0504:Nlrp1b	UTSW	11	71182415	missense	probably damaging	0.99
R0605:Nlrp1b	UTSW	11	71156179	missense	possibly damaging	0.88
R0863:Nlrp1b	UTSW	11	71181347	missense	probably benign	0.00
R1075:Nlrp1b	UTSW	11	71181686	missense	probably benign	0.35
R1221:Nlrp1b	UTSW	11	71181464	missense	probably benign	0.07
R1501:Nlrp1b	UTSW	11	71156059	missense	probably damaging	1.00
R1654:Nlrp1b	UTSW	11	71181298	missense	probably damaging	0.99
R1671:Nlrp1b	UTSW	11	71201259	missense	probably benign	0.45
R1676:Nlrp1b	UTSW	11	71182811	missense	probably benign	0.13
R1694:Nlrp1b	UTSW	11	71216855	critical splice donor site	probably null
R1709:Nlrp1b	UTSW	11	71201273	missense	probably benign	0.11
R1770:Nlrp1b	UTSW	11	71160153	missense	probably benign	0.22
R1775:Nlrp1b	UTSW	11	71161821	missense	probably damaging	1.00
R1851:Nlrp1b	UTSW	11	71182616	missense	possibly damaging	0.96
R1932:Nlrp1b	UTSW	11	71182138	missense	probably damaging	0.96
R2063:Nlrp1b	UTSW	11	71161086	missense	probably benign	0.09
R2189:Nlrp1b	UTSW	11	71169795	missense	probably damaging	1.00
R2223:Nlrp1b	UTSW	11	71155989	splice site	probably benign
R2284:Nlrp1b	UTSW	11	71156284	missense	probably benign	0.00
R2434:Nlrp1b	UTSW	11	71156726	splice site	probably null
R3079:Nlrp1b	UTSW	11	71217968	missense	probably benign	0.27
R3775:Nlrp1b	UTSW	11	71156300	splice site	probably benign
R3980:Nlrp1b	UTSW	11	71181611	missense	possibly damaging	0.56
R4016:Nlrp1b	UTSW	11	71173085	missense	probably damaging	1.00
R4085:Nlrp1b	UTSW	11	71161762	missense	probably damaging	0.98
R4542:Nlrp1b	UTSW	11	71228325	missense	probably damaging	1.00
R4623:Nlrp1b	UTSW	11	71161843	missense	probably benign	0.00
R4726:Nlrp1b	UTSW	11	71181406	missense	probably benign	0.10
R4764:Nlrp1b	UTSW	11	71182663	missense	probably damaging	1.00
R4885:Nlrp1b	UTSW	11	71217884	missense	possibly damaging	0.93
R4910:Nlrp1b	UTSW	11	71217277	missense	probably benign	0.09
R4997:Nlrp1b	UTSW	11	71218334	missense	probably damaging	1.00
R5046:Nlrp1b	UTSW	11	71160072	missense	possibly damaging	0.95
R5126:Nlrp1b	UTSW	11	71181533	missense	possibly damaging	0.67
R5388:Nlrp1b	UTSW	11	71172141	missense	probably damaging	1.00
R5445:Nlrp1b	UTSW	11	71217875	missense	probably benign	0.21
R5546:Nlrp1b	UTSW	11	71217276	missense	probably benign	0.04
R5567:Nlrp1b	UTSW	11	71181403	missense	probably benign
R5826:Nlrp1b	UTSW	11	71181196	missense	probably benign	0.17
R5955:Nlrp1b	UTSW	11	71217865	missense	probably damaging	1.00
R5995:Nlrp1b	UTSW	11	71181746	missense	probably damaging	1.00
R6059:Nlrp1b	UTSW	11	71217010	missense	possibly damaging	0.53
R6170:Nlrp1b	UTSW	11	71156079	missense	probably damaging	1.00
R6191:Nlrp1b	UTSW	11	71218457	nonsense	probably null
R6250:Nlrp1b	UTSW	11	71181799	missense	probably benign	0.11
R6312:Nlrp1b	UTSW	11	71228397	missense	probably benign	0.38
R6352:Nlrp1b	UTSW	11	71181701	missense	probably damaging	0.99
R6807:Nlrp1b	UTSW	11	71217704	missense	probably damaging	1.00
R6854:Nlrp1b	UTSW	11	71228433	missense	possibly damaging	0.93
R6908:Nlrp1b	UTSW	11	71217296	missense	probably benign
R6938:Nlrp1b	UTSW	11	71218216	missense	probably damaging	1.00
R7098:Nlrp1b	UTSW	11	71218274	missense	possibly damaging	0.89
R7142:Nlrp1b	UTSW	11	71172075	nonsense	probably null
R7149:Nlrp1b	UTSW	11	71181656	nonsense	probably null
R7349:Nlrp1b	UTSW	11	71182117	missense	probably benign	0.36
R7354:Nlrp1b	UTSW	11	71181550	missense	possibly damaging	0.89
R7750:Nlrp1b	UTSW	11	71168839	missense	probably benign	0.11
R7913:Nlrp1b	UTSW	11	71217711	missense	possibly damaging	0.93
R7994:Nlrp1b	UTSW	11	71217711	missense	possibly damaging	0.93
R8031:Nlrp1b	UTSW	11	71216921	missense	probably benign	0.15
Z1176:Nlrp1b	UTSW	11	71182270	missense	probably damaging	1.00
Z1177:Nlrp1b	UTSW	11	71181299	nonsense	probably null
Z1177:Nlrp1b	UTSW	11	71217224	missense	probably benign	0.03

Predicted Primers

Posted On

2016-09-06