Mutagenetix > Incidental Mutations

Incidental Mutation 'R5046:Nlrp1b'

394386

Institutional Source

Beutler Lab

Gene Symbol

Nlrp1b

Ensembl Gene

ENSMUSG00000070390

Gene Name

NLR family, pyrin domain containing 1B

Synonyms

Nalp1b

MMRRC Submission

042636-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71153102-71230733 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71160072 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1065 (P1065S)

Ref Sequence

ENSEMBL: ENSMUSP00000104155 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094046
AA Change: P1062S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091588
Gene: ENSMUSG00000070390
AA Change: P1062S

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: P1065S

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104154
Gene: ENSMUSG00000070390
AA Change: P1065S

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: P1065S

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104155
Gene: ENSMUSG00000070390
AA Change: P1065S

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

possibly damaging
Transcript: ENSMUST00000108516
AA Change: P1062S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104156
Gene: ENSMUSG00000070390
AA Change: P1062S

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

0.1680

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (52/52)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,620,354	M182R	probably benign	Het
Acsm4	C	A	7: 119,703,374	H241N	probably damaging	Het
Arhgap32	G	A	9: 32,256,799	A693T	probably damaging	Het
B4galnt3	G	T	6: 120,214,798	A658D	probably damaging	Het
Car12	G	A	9: 66,746,613	E84K	probably benign	Het
Crocc2	T	A	1: 93,205,902	S969T	probably damaging	Het
Crym	A	G	7: 120,195,444	V184A	possibly damaging	Het
Cryzl2	T	C	1: 157,465,013	C122R	probably damaging	Het
Defb30	T	C	14: 63,036,014	E49G	probably benign	Het
Dnah3	A	G	7: 119,951,580	L3161P	probably damaging	Het
Dnajc5g	A	G	5: 31,109,692	N104S	probably benign	Het
Fcgr1	T	G	3: 96,286,986	K195T	probably damaging	Het
Gal	C	T	19: 3,411,167	R89H	probably damaging	Het
Gcfc2	C	T	6: 81,948,335	A577V	probably benign	Het
Gm5116	A	C	7: 32,495,954		noncoding transcript	Het
Golga3	A	T	5: 110,192,940	Q540L	probably damaging	Het
Hectd1	T	C	12: 51,750,388	E2184G	probably damaging	Het
Hspa12a	T	C	19: 58,799,545	D615G	probably damaging	Het
Igkv14-130	A	T	6: 67,791,481	Y107F	probably damaging	Het
Ldlr	T	A	9: 21,745,907		probably null	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Lrrc37a	A	T	11: 103,498,240	S2120T	unknown	Het
Mtfmt	G	T	9: 65,439,615	V164F	probably damaging	Het
Nampt	T	C	12: 32,833,038	V74A	probably damaging	Het
Ndufc2	G	T	7: 97,407,664	R120L	probably damaging	Het
Neo1	A	T	9: 58,893,911	V1156D	possibly damaging	Het
Nop9	A	G	14: 55,745,940	H56R	possibly damaging	Het
Olfr1287	A	T	2: 111,449,589	T150S	probably benign	Het
Olfr790	A	T	10: 129,501,309	M142L	possibly damaging	Het
Pign	A	T	1: 105,522,073	N909K	possibly damaging	Het
Prex1	A	G	2: 166,572,963	V304A	probably benign	Het
Racgap1	G	A	15: 99,628,762	R307W	probably damaging	Het
Rap1gds1	C	A	3: 138,955,420	E399*	probably null	Het
Rwdd4a	G	A	8: 47,542,802		probably null	Het
Scp2	T	C	4: 108,071,291	T401A	probably benign	Het
Sdha	A	G	13: 74,327,333	F526S	probably damaging	Het
Shroom1	T	A	11: 53,464,045	L264Q	probably benign	Het
Sorl1	T	C	9: 41,996,294	T1466A	probably benign	Het
Trpm2	C	T	10: 77,966,018	C71Y	probably damaging	Het
Ugt2b34	G	A	5: 86,904,387	S250L	probably benign	Het
Vmn2r88	A	G	14: 51,413,181	D117G	probably benign	Het
Wdr73	A	T	7: 80,892,425		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
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
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
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

PCR Primer
(F):5'- ATGACTGTTACAGTGTCACAGTG -3'
(R):5'- GAGCAAGAAATTCTCACACAGG -3'

Sequencing Primer
(F):5'- CAGTGTCACAGTGTAAACTATGC -3'
(R):5'- GAAATTCTCACACAGGAACTCTC -3'

Posted On

2016-06-15