Mutagenetix > Incidental Mutation

Incidental Mutation 'R2189:Nlrp1b'

237980

Institutional Source

Beutler Lab

Gene Symbol

Nlrp1b

Ensembl Gene

ENSMUSG00000070390

Gene Name

NLR family, pyrin domain containing 1B

Synonyms

Nalp1b

MMRRC Submission

040191-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R2189 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71153102-71230733 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71169795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 729 (Q729L)

Ref Sequence

ENSEMBL: ENSMUSP00000104156 (fasta)

Gene Model

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

AlphaFold

A1Z198

Predicted Effect

probably damaging
Transcript: ENSMUST00000094046
AA Change: Q729L

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

SMART Domains

Protein: ENSMUSP00000091588
Gene: ENSMUSG00000070390
AA Change: Q729L

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

possibly damaging
Transcript: ENSMUST00000108514
AA Change: Q732L

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

SMART Domains

Protein: ENSMUSP00000104154
Gene: ENSMUSG00000070390
AA Change: Q732L

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

possibly damaging
Transcript: ENSMUST00000108515
AA Change: Q732L

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

SMART Domains

Protein: ENSMUSP00000104155
Gene: ENSMUSG00000070390
AA Change: Q732L

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: Q729L

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

SMART Domains

Protein: ENSMUSP00000104156
Gene: ENSMUSG00000070390
AA Change: Q729L

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: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	C	7: 79,098,091	G870A	probably damaging	Het
Adamtsl2	T	C	2: 27,081,738	W12R	probably benign	Het
Bsph1	G	A	7: 13,470,329		probably null	Het
Celsr1	G	T	15: 85,979,230	H1200Q	possibly damaging	Het
Clptm1	A	T	7: 19,637,145	Y355*	probably null	Het
Cry2	T	C	2: 92,411,692	E572G	possibly damaging	Het
Dlk1	G	A	12: 109,455,049		probably null	Het
Eral1	A	G	11: 78,075,831	V201A	probably benign	Het
Esrp1	A	T	4: 11,357,603	M503K	probably benign	Het
Fam83e	G	T	7: 45,722,183	M1I	probably null	Het
Flt4	G	A	11: 49,635,698	A835T	probably benign	Het
Hdac4	T	C	1: 91,975,522	S562G	probably null	Het
Hist1h2bn	A	G	13: 21,754,277	D52G	probably damaging	Het
Icosl	A	G	10: 78,073,925	T235A	possibly damaging	Het
Itga6	A	G	2: 71,825,617	D295G	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lipa	A	T	19: 34,524,799	L15Q	probably benign	Het
Mcc	T	C	18: 44,534,230	E218G	possibly damaging	Het
Mdga2	A	G	12: 66,473,196		probably null	Het
Mmadhc	A	C	2: 50,288,946	C153W	probably damaging	Het
Myh1	A	G	11: 67,221,604	D1799G	probably damaging	Het
Ofcc1	T	A	13: 40,180,448	Q389L	probably benign	Het
Olfr1030	A	G	2: 85,984,068	D76G	probably damaging	Het
Olfr469	T	C	7: 107,822,615	I285V	probably benign	Het
Olfr481	A	T	7: 108,081,036	M81L	possibly damaging	Het
Olfr691	A	G	7: 105,337,602	V38A	probably benign	Het
Pml	T	C	9: 58,234,874	N225S	probably benign	Het
Rnf213	A	G	11: 119,430,361	E1215G	probably benign	Het
Scap	T	A	9: 110,377,693	I402N	probably damaging	Het
Sgsm2	A	G	11: 74,853,082	L886P	probably damaging	Het
Sugct	T	C	13: 17,662,266	I104V	probably benign	Het
Tmem200c	A	G	17: 68,840,686	Q88R	probably damaging	Het
Tnfrsf1a	T	A	6: 125,357,805	L14Q	probably benign	Het
Tnk2	C	T	16: 32,671,421	L381F	probably damaging	Het
Ubr2	C	T	17: 46,943,364	V1454I	probably benign	Het
V1ra8	A	C	6: 90,202,962	D49A	probably damaging	Het
Vmn2r5	A	C	3: 64,509,593	M48R	probably benign	Het
Yars	A	G	4: 129,206,189	I227V	probably damaging	Het
Zfp850	C	A	7: 27,989,055	R576L	probably benign	Het
Zfpm2	T	A	15: 41,101,183	F223I	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
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
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
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
R8792:Nlrp1b	UTSW	11	71160093	missense	probably benign	0.02
R8898:Nlrp1b	UTSW	11	71182462	missense	probably damaging	1.00
R8953:Nlrp1b	UTSW	11	71161806	missense	probably damaging	0.96
R8963:Nlrp1b	UTSW	11	71217832	missense	probably damaging	1.00
R9145:Nlrp1b	UTSW	11	71218367	missense	probably benign
R9184:Nlrp1b	UTSW	11	71181241	missense	probably damaging	1.00
R9286:Nlrp1b	UTSW	11	71169747	missense	probably benign
R9322:Nlrp1b	UTSW	11	71217292	missense	probably benign	0.12
R9453:Nlrp1b	UTSW	11	71182087	missense	probably damaging	0.98
R9533:Nlrp1b	UTSW	11	71218269	missense	probably benign	0.12
R9659:Nlrp1b	UTSW	11	71182306	missense	possibly damaging	0.77
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
Z1186:Nlrp1b	UTSW	11	71181708	missense	probably benign	0.02
Z1186:Nlrp1b	UTSW	11	71181713	missense	probably benign
Z1186:Nlrp1b	UTSW	11	71181799	missense	probably benign
Z1186:Nlrp1b	UTSW	11	71182309	missense	probably benign
Z1186:Nlrp1b	UTSW	11	71182322	missense	probably benign
Z1186:Nlrp1b	UTSW	11	71182440	missense	probably benign
Z1186:Nlrp1b	UTSW	11	71182454	missense	probably benign	0.00
Z1186:Nlrp1b	UTSW	11	71182544	missense	probably benign	0.00
Z1186:Nlrp1b	UTSW	11	71182552	missense	probably benign
Z1186:Nlrp1b	UTSW	11	71182570	missense	probably benign	0.02
Z1186:Nlrp1b	UTSW	11	71182677	missense	probably benign
Z1187:Nlrp1b	UTSW	11	71181708	missense	probably benign	0.02
Z1187:Nlrp1b	UTSW	11	71181713	missense	probably benign
Z1187:Nlrp1b	UTSW	11	71181799	missense	probably benign
Z1187:Nlrp1b	UTSW	11	71182322	missense	probably benign
Z1187:Nlrp1b	UTSW	11	71182440	missense	probably benign
Z1187:Nlrp1b	UTSW	11	71182454	missense	probably benign	0.00
Z1187:Nlrp1b	UTSW	11	71182544	missense	probably benign	0.00
Z1187:Nlrp1b	UTSW	11	71182552	missense	probably benign
Z1187:Nlrp1b	UTSW	11	71182570	missense	probably benign	0.02
Z1187:Nlrp1b	UTSW	11	71182677	missense	probably benign
Z1188:Nlrp1b	UTSW	11	71181708	missense	probably benign	0.02
Z1188:Nlrp1b	UTSW	11	71181713	missense	probably benign
Z1188:Nlrp1b	UTSW	11	71181799	missense	probably benign
Z1188:Nlrp1b	UTSW	11	71182309	missense	probably benign
Z1188:Nlrp1b	UTSW	11	71182322	missense	probably benign
Z1188:Nlrp1b	UTSW	11	71182440	missense	probably benign
Z1188:Nlrp1b	UTSW	11	71182454	missense	probably benign	0.00
Z1188:Nlrp1b	UTSW	11	71182544	missense	probably benign	0.00
Z1188:Nlrp1b	UTSW	11	71182552	missense	probably benign
Z1188:Nlrp1b	UTSW	11	71182570	missense	probably benign	0.02
Z1188:Nlrp1b	UTSW	11	71182677	missense	probably benign
Z1189:Nlrp1b	UTSW	11	71181708	missense	probably benign	0.02
Z1189:Nlrp1b	UTSW	11	71181713	missense	probably benign
Z1189:Nlrp1b	UTSW	11	71181799	missense	probably benign
Z1189:Nlrp1b	UTSW	11	71182309	missense	probably benign
Z1189:Nlrp1b	UTSW	11	71182322	missense	probably benign
Z1189:Nlrp1b	UTSW	11	71182440	missense	probably benign
Z1189:Nlrp1b	UTSW	11	71182454	missense	probably benign	0.00
Z1189:Nlrp1b	UTSW	11	71182544	missense	probably benign	0.00
Z1189:Nlrp1b	UTSW	11	71182552	missense	probably benign
Z1189:Nlrp1b	UTSW	11	71182570	missense	probably benign	0.02
Z1189:Nlrp1b	UTSW	11	71182677	missense	probably benign
Z1190:Nlrp1b	UTSW	11	71181708	missense	probably benign	0.02
Z1190:Nlrp1b	UTSW	11	71181713	missense	probably benign
Z1190:Nlrp1b	UTSW	11	71181799	missense	probably benign
Z1190:Nlrp1b	UTSW	11	71182309	missense	probably benign
Z1190:Nlrp1b	UTSW	11	71182322	missense	probably benign
Z1190:Nlrp1b	UTSW	11	71182440	missense	probably benign
Z1190:Nlrp1b	UTSW	11	71182454	missense	probably benign	0.00
Z1190:Nlrp1b	UTSW	11	71182544	missense	probably benign	0.00
Z1190:Nlrp1b	UTSW	11	71182552	missense	probably benign
Z1190:Nlrp1b	UTSW	11	71182570	missense	probably benign	0.02
Z1190:Nlrp1b	UTSW	11	71182677	missense	probably benign
Z1191:Nlrp1b	UTSW	11	71181708	missense	probably benign	0.02
Z1191:Nlrp1b	UTSW	11	71181713	missense	probably benign
Z1191:Nlrp1b	UTSW	11	71181799	missense	probably benign
Z1191:Nlrp1b	UTSW	11	71182309	missense	probably benign
Z1191:Nlrp1b	UTSW	11	71182322	missense	probably benign
Z1191:Nlrp1b	UTSW	11	71182440	missense	probably benign
Z1191:Nlrp1b	UTSW	11	71182454	missense	probably benign	0.00
Z1191:Nlrp1b	UTSW	11	71182544	missense	probably benign	0.00
Z1191:Nlrp1b	UTSW	11	71182552	missense	probably benign
Z1191:Nlrp1b	UTSW	11	71182570	missense	probably benign	0.02
Z1191:Nlrp1b	UTSW	11	71182677	missense	probably benign
Z1192:Nlrp1b	UTSW	11	71181708	missense	probably benign	0.02
Z1192:Nlrp1b	UTSW	11	71181799	missense	probably benign
Z1192:Nlrp1b	UTSW	11	71182322	missense	probably benign
Z1192:Nlrp1b	UTSW	11	71182440	missense	probably benign
Z1192:Nlrp1b	UTSW	11	71182454	missense	probably benign	0.00
Z1192:Nlrp1b	UTSW	11	71182544	missense	probably benign	0.00
Z1192:Nlrp1b	UTSW	11	71182552	missense	probably benign
Z1192:Nlrp1b	UTSW	11	71182570	missense	probably benign	0.02
Z1192:Nlrp1b	UTSW	11	71182677	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCTACATACAGAACCCTTCCTT -3'
(R):5'- GCTTTATGCTGAGAGCTACAGA -3'

Sequencing Primer
(F):5'- ACATACAGAACCCTTCCTTACTTC -3'
(R):5'- CTGAGAGCTACAGATATGCCCTTG -3'

Posted On

2014-10-02