Mutagenetix > Incidental Mutations

Incidental Mutation 'R1709:Nlrp1b'

190346

Institutional Source

Beutler Lab

Gene Symbol

Nlrp1b

Ensembl Gene

ENSMUSG00000070390

Gene Name

NLR family, pyrin domain containing 1B

Synonyms

Nalp1b

MMRRC Submission

039742-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1709 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71153102-71230733 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71201273 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 9 (E9G)

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: E9G

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104154
Gene: ENSMUSG00000070390
AA Change: E9G

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: E9G

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104155
Gene: ENSMUSG00000070390
AA Change: E9G

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	C	T	5: 9,440,726	R579*	probably null	Het
Aacs	A	G	5: 125,489,878	K152E	probably benign	Het
Adgrd1	T	C	5: 129,179,228	V641A	possibly damaging	Het
Adgrv1	A	T	13: 81,593,060	V95E	probably damaging	Het
Agbl5	G	A	5: 30,906,241	C872Y	probably damaging	Het
Aldh1a7	G	T	19: 20,715,952	T201K	probably damaging	Het
Aox1	C	T	1: 58,077,474	A788V	probably benign	Het
Apob	T	C	12: 8,009,306	V2563A	probably damaging	Het
Atcay	G	A	10: 81,213,231	T179I	probably damaging	Het
Atf5	A	T	7: 44,813,283	L139Q	probably benign	Het
Atp13a3	T	C	16: 30,315,841	T1205A	probably benign	Het
Atr	C	T	9: 95,871,076	T656I	probably benign	Het
Bloc1s3	T	C	7: 19,507,528	E25G	possibly damaging	Het
Brap	T	C	5: 121,665,290		probably null	Het
C6	G	T	15: 4,790,970	A488S	probably benign	Het
Ccin	T	C	4: 43,984,133	F180S	probably damaging	Het
Cd207	T	C	6: 83,672,836	I256V	possibly damaging	Het
Cdc42bpa	G	T	1: 180,067,224	C323F	probably damaging	Het
Cfap57	T	C	4: 118,571,704	T1022A	probably benign	Het
Cmtr2	A	T	8: 110,221,949	Q297L	probably benign	Het
Coro7	A	T	16: 4,634,441		probably null	Het
Cpsf2	T	A	12: 101,999,542	Y589N	probably damaging	Het
Cpxm2	T	C	7: 132,059,834	Y408C	probably damaging	Het
Crocc	A	G	4: 141,026,099		probably null	Het
Cryzl1	A	C	16: 91,712,236	F59C	probably damaging	Het
Csmd2	T	C	4: 128,496,195	V2241A	probably damaging	Het
Cxcl15	C	A	5: 90,801,416	H147N	unknown	Het
Dennd4a	A	G	9: 64,889,605	T860A	possibly damaging	Het
Dnah10	C	T	5: 124,760,091	P966L	probably damaging	Het
Dpp9	T	A	17: 56,194,431	M594L	probably benign	Het
Dspp	C	A	5: 104,175,724	N244K	probably damaging	Het
Efcab8	T	A	2: 153,814,370		probably null	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fbxw17	A	G	13: 50,431,657	M299V	probably benign	Het
Fbxw7	T	A	3: 84,976,352	I530N	probably damaging	Het
Gm13023	T	C	4: 143,793,546	V120A	possibly damaging	Het
Gp2	C	A	7: 119,451,585	D308Y	probably null	Het
Gpd2	G	A	2: 57,357,655	V537M	probably damaging	Het
Gpr18	T	A	14: 121,911,992	Y207F	probably damaging	Het
Grip1	A	T	10: 119,897,715	D20V	probably damaging	Het
Gzmf	A	C	14: 56,206,940	F59V	probably damaging	Het
Hist1h3a	T	A	13: 23,761,981	I125F	probably damaging	Het
Igfn1	T	C	1: 135,955,573	I2732V	probably benign	Het
Ipo8	A	T	6: 148,782,728	D855E	probably benign	Het
Klrk1	A	T	6: 129,614,719		probably null	Het
Megf11	A	G	9: 64,695,412	Y876C	probably damaging	Het
Mettl8	G	T	2: 70,982,151	Q12K	probably benign	Het
Mrgprf	T	C	7: 145,308,217	F172S	probably benign	Het
Mycbp2	G	A	14: 103,224,416	T1432I	probably damaging	Het
Nek11	A	C	9: 105,348,061	L84R	probably damaging	Het
Nrxn1	T	C	17: 90,037,187	I433V	probably damaging	Het
Nup153	A	G	13: 46,693,974	C660R	probably damaging	Het
Olfr108	T	A	17: 37,446,200	Y226*	probably null	Het
Olfr1427	G	T	19: 12,098,881	P253T	probably damaging	Het
Olfr196	T	A	16: 59,167,901	M81L	probably benign	Het
Olfr447	T	C	6: 42,912,144	V207A	possibly damaging	Het
P2rx7	T	A	5: 122,670,465	N303K	possibly damaging	Het
Pank4	T	C	4: 154,970,047	L159P	probably damaging	Het
Pcdhb22	A	T	18: 37,518,500	H7L	probably benign	Het
Pdzd8	A	T	19: 59,301,339	I543N	probably benign	Het
Prrc2b	C	A	2: 32,194,461	R313S	probably damaging	Het
Rbm12b1	T	C	4: 12,145,827	C600R	probably benign	Het
Rem1	G	A	2: 152,634,535	V238M	probably damaging	Het
Rfx6	T	A	10: 51,678,402	M113K	possibly damaging	Het
Rlf	A	T	4: 121,149,823	D653E	probably benign	Het
Rnf130	A	G	11: 50,087,386	D258G	possibly damaging	Het
Robo2	A	G	16: 73,956,523	V822A	possibly damaging	Het
Rps6kc1	G	T	1: 190,800,336	Q490K	possibly damaging	Het
Scn9a	T	C	2: 66,483,506	Y1945C	probably damaging	Het
Setd2	T	A	9: 110,549,857	D913E	probably benign	Het
Sfr1	G	T	19: 47,735,003	E315D	possibly damaging	Het
Smarca5	G	A	8: 80,709,220	R763*	probably null	Het
Sugct	A	C	13: 17,672,566	I44S	probably damaging	Het
Syce1l	A	G	8: 113,654,030		probably null	Het
Tbc1d8b	A	G	X: 139,734,080	I654V	probably benign	Het
Tcf23	T	A	5: 30,973,508	Y163*	probably null	Het
Terf2ip	TG	T	8: 112,011,606		probably null	Het
Tmem158	T	C	9: 123,259,885	S221G	possibly damaging	Het
Tnrc6a	A	G	7: 123,169,982	T332A	probably benign	Het
Trappc4	T	C	9: 44,407,211	T31A	probably benign	Het
Trim27	T	C	13: 21,188,065		probably null	Het
Ttyh2	T	A	11: 114,708,475	L330Q	probably damaging	Het
Tubgcp3	A	T	8: 12,639,532	L578*	probably null	Het
Txndc11	C	A	16: 11,128,701	E83*	probably null	Het
Utp20	T	C	10: 88,749,297	K2635R	probably benign	Het
V1ra8	C	T	6: 90,203,322	T169I	probably damaging	Het
Vcl	G	A	14: 21,019,373	V706I	probably benign	Het
Vmn2r106	A	T	17: 20,279,111	D179E	probably benign	Het
Vmn2r80	T	C	10: 79,194,389	M683T	probably benign	Het
Xirp2	A	G	2: 67,509,871	I819V	probably benign	Het
Zfp735	T	C	11: 73,711,763	F511S	probably benign	Het
Zfp831	T	C	2: 174,645,890	V786A	probably benign	Het
Zfp992	T	A	4: 146,466,492	H223Q	probably benign	Het
Zfyve19	A	C	2: 119,210,819	Q72P	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
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
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
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'- ATGCCTGATTCTCCCCACTAGAGC -3'
(R):5'- TGTCCTATGAAGCCCAAACCCCTG -3'

Sequencing Primer
(F):5'- GCTTTGAGCATCACATGGGAATC -3'
(R):5'- CTGATGAAAGGCTATCTGACCCTG -3'

Posted On

2014-05-14