Mutagenetix > Incidental Mutations

Incidental Mutation 'R5388:Nlrp1b'

425428

Institutional Source

Beutler Lab

Gene Symbol

Nlrp1b

Ensembl Gene

ENSMUSG00000070390

Gene Name

NLR family, pyrin domain containing 1B

Synonyms

Nalp1b

MMRRC Submission

042960-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R5388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71153102-71230733 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 71172141 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 695 (N695H)

Ref Sequence

ENSEMBL: ENSMUSP00000104156 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000094046
AA Change: N695H

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

SMART Domains

Protein: ENSMUSP00000091588
Gene: ENSMUSG00000070390
AA Change: N695H

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 damaging
Transcript: ENSMUST00000108514
AA Change: N698H

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

SMART Domains

Protein: ENSMUSP00000104154
Gene: ENSMUSG00000070390
AA Change: N698H

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 damaging
Transcript: ENSMUST00000108515
AA Change: N698H

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

SMART Domains

Protein: ENSMUSP00000104155
Gene: ENSMUSG00000070390
AA Change: N698H

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 damaging
Transcript: ENSMUST00000108516
AA Change: N695H

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

SMART Domains

Protein: ENSMUSP00000104156
Gene: ENSMUSG00000070390
AA Change: N695H

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

Meta Mutation Damage Score

0.5875

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (57/58)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,283,727	Q4483R	probably damaging	Het
Abca16	T	C	7: 120,540,746		probably null	Het
Acap2	C	A	16: 31,109,725	C475F	probably damaging	Het
Ace	C	A	11: 105,988,458	P603Q	possibly damaging	Het
Adamts20	C	G	15: 94,345,778	V657L	possibly damaging	Het
Antxr2	A	G	5: 97,977,599		probably null	Het
Atp6v1b2	G	A	8: 69,101,437	V89I	probably benign	Het
Cacna1e	G	A	1: 154,477,796	P676L	probably damaging	Het
Camsap3	A	T	8: 3,604,276	I649F	probably damaging	Het
Camta1	G	T	4: 151,075,238	S490R	probably damaging	Het
Celsr1	A	G	15: 85,925,518	I2221T	probably damaging	Het
Cfd	A	T	10: 79,892,125	D164V	probably damaging	Het
Cfdp1	T	C	8: 111,768,752	D278G	probably damaging	Het
Cntn6	A	T	6: 104,832,562	L519F	probably damaging	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Cybrd1	T	C	2: 71,137,645		probably null	Het
Cyp2e1	T	C	7: 140,763,993	L48P	probably damaging	Het
Ep400	G	A	5: 110,701,728	T1409I	unknown	Het
Epp13	T	C	7: 6,266,347		probably null	Het
Exosc7	A	T	9: 123,118,907	D47V	probably damaging	Het
Fgr	T	C	4: 132,995,031	F204L	probably damaging	Het
Gm10100	G	A	10: 77,726,726	V81M	probably benign	Het
Gm12367	T	C	4: 35,235,690		noncoding transcript	Het
Gm15922	T	C	7: 3,738,857	T175A	possibly damaging	Het
Grxcr1	C	A	5: 68,166,195	T272K	probably damaging	Het
Kcna5	C	T	6: 126,534,896	D90N	probably benign	Het
Kdm5b	T	A	1: 134,608,897	Y618*	probably null	Het
Lama5	T	A	2: 180,190,746	H1670L	possibly damaging	Het
Mtus2	C	T	5: 148,306,708	Q113*	probably null	Het
Ncam1	A	C	9: 49,544,754	D521E	probably benign	Het
Nkapl	T	C	13: 21,467,570	H291R	possibly damaging	Het
Npc1l1	T	A	11: 6,214,733	Q1105H	probably damaging	Het
Paxip1	C	G	5: 27,781,455		probably benign	Het
Pign	A	T	1: 105,655,970	W136R	probably damaging	Het
Pkn3	T	A	2: 30,081,074	S222T	probably damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ppfibp1	T	A	6: 146,996,840	I98N	probably damaging	Het
Ppfibp1	T	G	6: 147,016,330	S484A	probably damaging	Het
Ppp1r7	T	C	1: 93,352,590	F127L	probably damaging	Het
Pramel1	T	C	4: 143,397,384	Y210H	probably benign	Het
Rad21l	C	T	2: 151,653,483	V427I	probably benign	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 139,779,850		probably benign	Het
Rnf225	A	G	7: 12,928,005	D37G	probably damaging	Het
Smpd2	A	G	10: 41,487,971		probably null	Het
Tmem38b	C	T	4: 53,859,945	R242W	probably benign	Het
Topaz1	A	T	9: 122,774,093	K1035I	possibly damaging	Het
Trhr	T	C	15: 44,197,477	I131T	possibly damaging	Het
Usp1	A	G	4: 98,931,057	D252G	probably benign	Het
Usp14	C	T	18: 10,018,023	E90K	probably damaging	Het
Yme1l1	T	G	2: 23,162,557	D74E	probably benign	Het
Ythdc2	T	A	18: 44,857,025	L732Q	possibly damaging	Het
Zbbx	G	T	3: 75,083,670	A289D	probably damaging	Het
Zfhx3	G	A	8: 108,946,814	V1499I	possibly damaging	Het
Zfp622	T	C	15: 25,996,199	V184A	possibly 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
Thorn	UTSW	11	71156300	splice site	probably benign
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
R5369:Nlrp1b	UTSW	11	71181799	missense	probably benign
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
R8031:Nlrp1b	UTSW	11	71216921	missense	probably benign	0.15
R8087:Nlrp1b	UTSW	11	71172071	missense	probably benign	0.04
R8164:Nlrp1b	UTSW	11	71228417	missense	possibly damaging	0.78
R8378:Nlrp1b	UTSW	11	71161719	missense	possibly damaging	0.95
R8405:Nlrp1b	UTSW	11	71182530	missense	possibly damaging	0.66
R8441:Nlrp1b	UTSW	11	71182378	missense	probably damaging	1.00
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

PCR Primer
(F):5'- CATGTGATTTCACCATGCCC -3'
(R):5'- TGACAGATCAACATGCCACG -3'

Sequencing Primer
(F):5'- ACTTGTCCAATCACAGGGTG -3'
(R):5'- TGCCACGAATCACAGAGACCTG -3'

Posted On

2016-08-04