Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01134:Nlrp9b'

51629

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp9b

Ensembl Gene

ENSMUSG00000060508

Gene Name

NLR family, pyrin domain containing 9B

Synonyms

Nalp-delta, Nalp9b

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01134

Quality Score

Status

Chromosome

Chromosomal Location

19991465-20073306 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20023187 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 116 (I116M)

Ref Sequence

ENSEMBL: ENSMUSP00000113762 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073151] [ENSMUST00000117909] [ENSMUST00000137183] [ENSMUST00000207805]

Predicted Effect

probably benign
Transcript: ENSMUST00000073151
AA Change: I116M

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: I116M

Domain	Start	End	E-Value	Type
PYRIN	5	87	2.08e-23	SMART
Pfam:NACHT	143	311	4.3e-34	PFAM
low complexity region	580	595	N/A	INTRINSIC
LRR	630	657	2.16e2	SMART
LRR	691	718	2.23e2	SMART
LRR	747	774	6.67e-2	SMART
LRR	776	803	3.65e0	SMART
LRR	804	831	5.59e-4	SMART
LRR	833	860	2.81e0	SMART
LRR	861	888	8.87e-7	SMART
LRR	890	917	9.24e1	SMART
Blast:LRR	918	945	2e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000117909
AA Change: I116M

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113762
Gene: ENSMUSG00000060508
AA Change: I116M

Domain	Start	End	E-Value	Type
PYRIN	5	87	2.08e-23	SMART
Pfam:NACHT	143	179	2.8e-6	PFAM
LRR	190	217	2.16e2	SMART
LRR	251	278	2.23e2	SMART
LRR	307	334	6.67e-2	SMART
LRR	336	363	3.65e0	SMART
LRR	364	391	5.59e-4	SMART
LRR	393	420	2.81e0	SMART
Pfam:Chromo_shadow	450	501	2.9e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137183
AA Change: I116M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115158
Gene: ENSMUSG00000060508
AA Change: I116M

Domain	Start	End	E-Value	Type
PYRIN	5	87	2.08e-23	SMART
Pfam:NACHT	143	240	1.7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207805

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]
PHENOTYPE: The protein protects against rotavirus infection. Homozygous KO leads to increased susceptibility to infection and greater severity of pathology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Acaca	T	G	11: 84,251,279	H637Q	probably benign	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Akap6	C	A	12: 52,937,217	A848E	probably damaging	Het
Cxxc4	A	G	3: 134,240,659	I334V	probably null	Het
Cyp2b13	T	A	7: 26,081,700	I179N	probably damaging	Het
Cyp2d40	C	A	15: 82,760,901	A183S	unknown	Het
Cyp2g1	A	G	7: 26,809,831	N110S	probably benign	Het
F5	A	T	1: 164,191,979	R674S	possibly damaging	Het
Fnip2	G	T	3: 79,512,503	Y155*	probably null	Het
Fut9	G	T	4: 25,620,446	Q123K	probably benign	Het
Gda	A	G	19: 21,417,065	S143P	probably damaging	Het
Gpr162	T	C	6: 124,858,857		probably null	Het
Hsf2bp	A	G	17: 31,987,404	L251S	probably damaging	Het
Hsh2d	A	T	8: 72,193,531	D24V	probably damaging	Het
Htr1f	T	A	16: 64,926,138	T264S	probably benign	Het
Med12l	G	A	3: 59,042,275	E151K	possibly damaging	Het
Mgat3	C	A	15: 80,212,176	N401K	probably benign	Het
Mmp27	T	G	9: 7,573,297	M130R	probably benign	Het
Mroh2b	T	A	15: 4,915,152	S412T	probably benign	Het
Mrps9	A	G	1: 42,903,397	I338M	probably damaging	Het
Mtmr4	C	T	11: 87,604,067	T395M	probably damaging	Het
Nqo1	T	C	8: 107,388,955	D230G	probably benign	Het
Pcnx2	C	T	8: 125,863,150	V795I	probably benign	Het
Pde8a	G	A	7: 81,319,078	R449Q	possibly damaging	Het
Scn9a	A	G	2: 66,504,968	Y1226H	probably damaging	Het
Sema3e	A	G	5: 14,252,770	R770G	probably damaging	Het
Smr2	T	C	5: 88,108,519	S19P	probably damaging	Het
Trank1	T	C	9: 111,391,781	S2529P	probably benign	Het
Uspl1	T	A	5: 149,204,293	F367L	probably damaging	Het
Vps41	A	G	13: 18,866,150	S838G	probably benign	Het
Ythdf2	A	T	4: 132,205,478	F124I	probably damaging	Het

Other mutations in Nlrp9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Nlrp9b	APN	7	20023278	missense	probably benign	0.43
IGL00675:Nlrp9b	APN	7	20023186	missense	possibly damaging	0.63
IGL00755:Nlrp9b	APN	7	20023522	missense	probably damaging	1.00
IGL01131:Nlrp9b	APN	7	20023537	missense	probably damaging	1.00
IGL01464:Nlrp9b	APN	7	20062655	missense	probably benign	0.00
IGL01514:Nlrp9b	APN	7	20045934	critical splice donor site	probably null
IGL01731:Nlrp9b	APN	7	20023417	nonsense	probably null
IGL02427:Nlrp9b	APN	7	20042501	missense	probably damaging	1.00
IGL03013:Nlrp9b	APN	7	20048825	missense	probably damaging	1.00
R0037:Nlrp9b	UTSW	7	20023722	missense	probably damaging	0.99
R0114:Nlrp9b	UTSW	7	20024056	missense	probably benign	0.00
R0276:Nlrp9b	UTSW	7	20028498	missense	probably benign	0.21
R0346:Nlrp9b	UTSW	7	20024515	missense	probably damaging	0.99
R0736:Nlrp9b	UTSW	7	20049450	missense	probably damaging	1.00
R1449:Nlrp9b	UTSW	7	20023164	missense	possibly damaging	0.91
R1540:Nlrp9b	UTSW	7	20048847	nonsense	probably null
R1648:Nlrp9b	UTSW	7	20026544	missense	possibly damaging	0.89
R1878:Nlrp9b	UTSW	7	20028564	missense	probably benign	0.01
R1903:Nlrp9b	UTSW	7	20023257	missense	probably benign	0.44
R2191:Nlrp9b	UTSW	7	20023662	missense	probably benign
R4572:Nlrp9b	UTSW	7	20026681	critical splice donor site	probably null
R4863:Nlrp9b	UTSW	7	20049596	critical splice donor site	probably null
R4939:Nlrp9b	UTSW	7	20024496	missense	probably damaging	0.99
R5211:Nlrp9b	UTSW	7	20049456	missense	probably damaging	1.00
R5329:Nlrp9b	UTSW	7	20023991	missense	probably damaging	1.00
R5580:Nlrp9b	UTSW	7	20023164	missense	probably damaging	0.98
R5696:Nlrp9b	UTSW	7	20024492	missense	probably benign	0.02
R6265:Nlrp9b	UTSW	7	20062683	missense	probably benign
R6456:Nlrp9b	UTSW	7	20048778	missense	probably damaging	1.00
R6672:Nlrp9b	UTSW	7	20019338	missense	probably damaging	1.00
R6750:Nlrp9b	UTSW	7	20023234	nonsense	probably null
R6896:Nlrp9b	UTSW	7	20023245	missense	probably damaging	0.96
R6968:Nlrp9b	UTSW	7	20049508	missense	probably damaging	1.00
R7108:Nlrp9b	UTSW	7	20045930	missense	probably damaging	1.00
R7287:Nlrp9b	UTSW	7	20028456	missense	probably damaging	0.97
R7297:Nlrp9b	UTSW	7	20049513	missense	possibly damaging	0.81
R7485:Nlrp9b	UTSW	7	20023950	missense	probably damaging	1.00
R7552:Nlrp9b	UTSW	7	20045766	missense	probably benign	0.04
R7573:Nlrp9b	UTSW	7	20019200	missense	probably damaging	1.00
R7690:Nlrp9b	UTSW	7	20024370	missense	probably benign	0.00
X0064:Nlrp9b	UTSW	7	20048758	missense	probably damaging	1.00
Z1088:Nlrp9b	UTSW	7	20023743	missense	probably benign	0.01

Posted On

2013-06-21