Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01514:Nlrp9b'

89325

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 #

IGL01514

Quality Score

Status

Chromosome

Chromosomal Location

19991465-20073306 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 20045934 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113762 (fasta)

Gene Model

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

AlphaFold

Q66X22

Predicted Effect

probably null
Transcript: ENSMUST00000073151

SMART Domains

Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508

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 null
Transcript: ENSMUST00000117909

SMART Domains

Protein: ENSMUSP00000113762
Gene: ENSMUSG00000060508

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	A	G	2: 93,839,242		probably benign	Het
Actl7b	T	C	4: 56,740,677	Y227C	probably damaging	Het
Adam26a	A	T	8: 43,568,448	H668Q	probably benign	Het
Alcam	A	T	16: 52,274,290		probably benign	Het
Aldh3a2	C	T	11: 61,253,798		probably benign	Het
Atp11b	G	T	3: 35,836,981	G801V	probably damaging	Het
C3	G	A	17: 57,215,866	T1006I	probably benign	Het
Cacna2d4	T	C	6: 119,282,173		probably benign	Het
Cldn34b3	A	T	X: 76,267,074	I83F	probably damaging	Het
Clec2g	G	A	6: 128,948,773	M48I	probably benign	Het
Coch	A	G	12: 51,603,353	D375G	probably damaging	Het
Erbb2	C	T	11: 98,432,919	T653I	possibly damaging	Het
Etv3	A	G	3: 87,535,718	H203R	possibly damaging	Het
Fat4	A	G	3: 38,949,534	R1801G	possibly damaging	Het
Gars	T	A	6: 55,065,520	S413T	probably benign	Het
Gnat1	G	A	9: 107,676,301	R253C	possibly damaging	Het
Hook3	A	T	8: 26,088,189	L91I	possibly damaging	Het
Lrp8	T	C	4: 107,855,684	Y377H	probably damaging	Het
Lztr1	G	A	16: 17,522,391		probably null	Het
Malt1	A	G	18: 65,476,400	D825G	possibly damaging	Het
Olfr1396	A	T	11: 49,113,576	I50N	probably damaging	Het
Olfr54	C	T	11: 51,027,589	R196*	probably null	Het
Orc1	A	G	4: 108,602,052	R473G	probably damaging	Het
Pard6g	G	A	18: 80,117,446	R258H	probably damaging	Het
Pkdrej	T	C	15: 85,818,063	D1224G	possibly damaging	Het
Polr1e	A	G	4: 45,018,723	T18A	probably benign	Het
Pycrl	T	C	15: 75,917,004	T240A	probably damaging	Het
Ralgapa1	C	A	12: 55,719,657	G1284V	probably damaging	Het
Rcl1	T	C	19: 29,143,298		probably benign	Het
Sec24c	C	T	14: 20,682,771	T134I	possibly damaging	Het
Sis	A	G	3: 72,935,920		probably benign	Het
Susd5	A	C	9: 114,068,879		probably benign	Het
Tlk1	T	C	2: 70,752,266	N173S	probably benign	Het
Uroc1	T	C	6: 90,363,100		probably benign	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
IGL01134:Nlrp9b	APN	7	20023187	missense	probably benign	0.06
IGL01464:Nlrp9b	APN	7	20062655	missense	probably benign	0.00
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
R7839:Nlrp9b	UTSW	7	20024473	missense	possibly damaging	0.49
R7913:Nlrp9b	UTSW	7	20045800	missense	probably benign	0.07
R7968:Nlrp9b	UTSW	7	20028568	missense	probably benign	0.01
R8113:Nlrp9b	UTSW	7	20019335	missense	probably benign	0.02
R8273:Nlrp9b	UTSW	7	20024061	missense	possibly damaging	0.89
R8400:Nlrp9b	UTSW	7	20024012	nonsense	probably null
R9047:Nlrp9b	UTSW	7	20023476	missense	possibly damaging	0.80
R9224:Nlrp9b	UTSW	7	20019292	missense	probably benign	0.00
R9224:Nlrp9b	UTSW	7	20023551	missense	probably benign	0.44
R9291:Nlrp9b	UTSW	7	20024586	missense	possibly damaging	0.80
R9348:Nlrp9b	UTSW	7	20023411	missense	probably damaging	1.00
R9398:Nlrp9b	UTSW	7	20049510	missense	probably damaging	1.00
R9442:Nlrp9b	UTSW	7	20045782	missense	possibly damaging	0.84
R9495:Nlrp9b	UTSW	7	20026537	missense	possibly damaging	0.64
R9598:Nlrp9b	UTSW	7	20019377	missense	probably benign	0.17
R9757:Nlrp9b	UTSW	7	20048692	missense	probably damaging	1.00
X0064:Nlrp9b	UTSW	7	20048758	missense	probably damaging	1.00
Z1088:Nlrp9b	UTSW	7	20023743	missense	probably benign	0.01
Z1177:Nlrp9b	UTSW	7	20026646	missense	probably benign	0.00

Posted On

2013-12-03