Mutagenetix > Incidental Mutation

Incidental Mutation 'R5546:Nlrp1b'

436302

Institutional Source

Beutler Lab

Gene Symbol

Nlrp1b

Ensembl Gene

ENSMUSG00000070390

Gene Name

NLR family, pyrin domain containing 1B

Synonyms

Nalp1b

MMRRC Submission

043104-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R5546 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71153102-71230733 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71217276 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 466 (H466Q)

Ref Sequence

ENSEMBL: ENSMUSP00000121155 (fasta)

Gene Model

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

AlphaFold

A1Z198

Predicted Effect

probably benign
Transcript: ENSMUST00000094046
AA Change: H466Q

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

SMART Domains

Protein: ENSMUSP00000091588
Gene: ENSMUSG00000070390
AA Change: H466Q

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: ENSMUST00000108516
AA Change: H466Q

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

SMART Domains

Protein: ENSMUSP00000104156
Gene: ENSMUSG00000070390
AA Change: H466Q

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
AA Change: H466Q

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000121155
Gene: ENSMUSG00000070390
AA Change: H466Q

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,929,633	N385S	probably benign	Het
Ahctf1	A	T	1: 179,754,068	I1523N	probably benign	Het
Akna	C	T	4: 63,394,959	G309E	probably benign	Het
Akna	T	C	4: 63,395,566	N107D	probably benign	Het
Arhgef15	G	A	11: 68,954,051	P240L	probably benign	Het
Brd1	T	A	15: 88,701,122	E836D	probably benign	Het
Brf2	A	G	8: 27,124,283	S292P	possibly damaging	Het
C3	A	G	17: 57,222,976	L500P	probably damaging	Het
Ccdc107	T	C	4: 43,495,685	L196P	probably damaging	Het
Cdcp1	G	T	9: 123,178,029	P551Q	probably damaging	Het
Ckap5	T	C	2: 91,594,816	L1224P	probably damaging	Het
Csnk1g2	C	A	10: 80,638,398	T178K	probably benign	Het
Ctsq	A	T	13: 61,037,888	C146*	probably null	Het
Cyp2ab1	T	A	16: 20,313,757	I264F	probably damaging	Het
Daxx	TGATGATGACGATGATGACGATGATGA	TGATGATGACGATGATGA	17: 33,912,641		probably benign	Het
Dnah11	G	A	12: 117,975,848	T3179M	possibly damaging	Het
Dnah7c	A	T	1: 46,666,317	T2497S	probably damaging	Het
Eif4enif1	T	C	11: 3,243,989	V776A	probably damaging	Het
Erbb4	G	T	1: 68,298,293	T622N	probably damaging	Het
Erich6	A	G	3: 58,618,797	Y595H	probably benign	Het
Fam107a	C	T	14: 8,298,764	A121T	probably benign	Het
Gif	T	C	19: 11,748,495	S50P	possibly damaging	Het
Gpatch11	C	T	17: 78,842,119	Q183*	probably null	Het
Gpr161	C	A	1: 165,306,413	F81L	possibly damaging	Het
Hook1	G	T	4: 96,002,528	E291D	probably benign	Het
Hsf2bp	T	A	17: 31,946,695	I309F	probably damaging	Het
Hspg2	T	C	4: 137,548,174		probably null	Het
Ide	T	G	19: 37,272,224	M910L	unknown	Het
Igdcc4	A	G	9: 65,128,795	Y712C	probably damaging	Het
Kmt2d	T	C	15: 98,853,068		probably benign	Het
Lats1	T	C	10: 7,705,754	Y768H	probably damaging	Het
Mageb3	A	G	2: 121,954,387	V278A	probably damaging	Het
Mapkbp1	G	A	2: 120,019,243	R732H	probably damaging	Het
Marveld2	T	C	13: 100,600,938	I148V	probably benign	Het
Mast1	G	C	8: 84,916,260	P969A	probably damaging	Het
Myh10	T	G	11: 68,798,380	V1261G	possibly damaging	Het
Npr2	T	G	4: 43,650,150	V905G	probably damaging	Het
Oip5	T	A	2: 119,610,327	I240F	unknown	Het
Olfr1259	A	G	2: 89,943,585	C177R	probably damaging	Het
Olfr175-ps1	G	T	16: 58,824,153	Y185*	probably null	Het
Olfr874	T	A	9: 37,746,524	M130K	probably benign	Het
Pcsk2	G	A	2: 143,546,560	A24T	probably benign	Het
Plxnb1	G	T	9: 109,100,750	G225W	probably damaging	Het
Polr1a	T	C	6: 71,929,366	S389P	possibly damaging	Het
Prkca	A	G	11: 108,053,980	V175A	probably benign	Het
Rassf7	C	A	7: 141,217,060		probably null	Het
Rbl2	A	G	8: 91,078,932	I206V	probably benign	Het
Rnf111	A	T	9: 70,459,096	H353Q	probably benign	Het
Rpn1	T	G	6: 88,093,859	V237G	probably damaging	Het
Sec61a2	T	A	2: 5,876,540	I267F	possibly damaging	Het
Spop	G	T	11: 95,485,843	V241F	probably damaging	Het
Sptbn2	C	T	19: 4,725,950	A178V	probably damaging	Het
Stard13	A	G	5: 151,045,901	Y791H	probably benign	Het
Susd2	T	A	10: 75,642,218	I113L	probably benign	Het
Tcof1	T	C	18: 60,831,556	E666G	possibly damaging	Het
Tekt5	G	T	16: 10,361,390	A371E	possibly damaging	Het
Thap11	G	A	8: 105,855,916	E186K	probably damaging	Het
Tk2	A	T	8: 104,247,683	D45E	possibly damaging	Het
Tuba8	C	A	6: 121,222,913	Y185*	probably null	Het
Usp24	T	A	4: 106,416,047	Y2210N	probably damaging	Het
Wfdc8	A	T	2: 164,597,319		probably benign	Het
Zar1l	T	C	5: 150,512,900	N237S	probably damaging	Het
Zfp607b	A	T	7: 27,702,607	T163S	probably benign	Het
Zfp619	C	A	7: 39,535,153	H202Q	probably benign	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
R5388:Nlrp1b	UTSW	11	71172141	missense	probably damaging	1.00
R5445:Nlrp1b	UTSW	11	71217875	missense	probably benign	0.21
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'- ATGTCAGGAGCACCTCTTCCTG -3'
(R):5'- GCCATTGCCACTTTCCTGAAG -3'

Sequencing Primer
(F):5'- CCTGACTTTCATACAGACAGTGGAG -3'
(R):5'- GATCGGTATCCTTCAAAAGCAGGC -3'

Posted On

2016-10-24