Mutagenetix > Incidental Mutations

Incidental Mutation 'R0114:Nlrp9b'

20645

Institutional Source

Beutler Lab

Gene Symbol

Nlrp9b

Ensembl Gene

ENSMUSG00000060508

Gene Name

NLR family, pyrin domain containing 9B

Synonyms

Nalp-delta, Nalp9b

MMRRC Submission

038400-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0114 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

19991465-20073306 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20024056 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 406 (D406G)

Ref Sequence

ENSEMBL: ENSMUSP00000072895 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000073151
AA Change: D406G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: D406G

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000137183

SMART Domains

Protein: ENSMUSP00000115158
Gene: ENSMUSG00000060508

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 93.2%
20x: 79.2%

Validation Efficiency

100% (99/99)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	C	10: 28,985,982		probably benign	Het
4933427D14Rik	T	C	11: 72,195,799	Y262C	probably damaging	Het
Adamts1	C	A	16: 85,799,614	V379L	probably benign	Het
Akt3	T	C	1: 177,067,251	D260G	probably damaging	Het
Alms1	T	C	6: 85,619,803	L537P	probably benign	Het
Anln	A	T	9: 22,353,346	I876N	probably damaging	Het
Ano9	A	T	7: 141,103,239		probably benign	Het
Arhgef10l	T	C	4: 140,583,883	E218G	probably benign	Het
Arnt2	G	A	7: 84,347,530	R63C	probably damaging	Het
Atp9a	G	T	2: 168,710,856	Y63*	probably null	Het
Bmpr2	G	T	1: 59,815,340	C116F	probably damaging	Het
Cand1	T	C	10: 119,216,522	D233G	probably benign	Het
Cftr	A	T	6: 18,282,448	H1049L	probably damaging	Het
Ckap5	A	T	2: 91,620,112	D1975V	possibly damaging	Het
Cyp26c1	T	C	19: 37,686,633	V134A	probably benign	Het
Dnaic1	T	C	4: 41,605,686		probably benign	Het
Dpp10	T	C	1: 123,486,092	I163V	probably benign	Het
Fam151a	A	T	4: 106,734,004	I15F	possibly damaging	Het
Fanca	A	T	8: 123,288,491		probably null	Het
Fes	A	G	7: 80,378,035	V787A	probably damaging	Het
Fnip1	C	T	11: 54,487,801		probably benign	Het
Gabpb1	A	G	2: 126,653,574	I86T	probably damaging	Het
Gm1840	A	G	8: 5,640,359		noncoding transcript	Het
Gmds	A	T	13: 32,227,281	S57T	probably benign	Het
Gnpat	T	G	8: 124,883,357	D426E	probably benign	Het
Gnptab	C	A	10: 88,433,400	P655Q	possibly damaging	Het
Herc1	T	A	9: 66,461,846	F2941I	probably damaging	Het
Herc2	T	C	7: 56,153,774		probably benign	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Itga11	T	G	9: 62,735,293	V166G	probably damaging	Het
Itga11	T	C	9: 62,760,302	V639A	possibly damaging	Het
Itpr2	A	G	6: 146,312,879	F1490S	probably damaging	Het
Lama2	C	A	10: 26,993,068	E802*	probably null	Het
Lgi3	C	T	14: 70,531,029		probably benign	Het
Limch1	C	T	5: 67,036,084		probably benign	Het
Lipc	T	C	9: 70,803,781	N363S	probably damaging	Het
Lrit2	A	G	14: 37,068,045		probably null	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Mug2	A	G	6: 122,040,648	Y448C	probably damaging	Het
Mybpc3	A	G	2: 91,124,494	E450G	probably damaging	Het
Myo5b	A	T	18: 74,742,171	T1549S	probably benign	Het
Naa15	T	C	3: 51,448,438		probably null	Het
Nckap1l	T	A	15: 103,455,028	C54S	probably benign	Het
Nprl3	T	A	11: 32,239,784		probably benign	Het
Nvl	A	G	1: 181,120,391	V429A	probably benign	Het
Olfr114	A	T	17: 37,589,415	*313K	probably null	Het
Olfr54	G	A	11: 51,027,604	V201I	probably benign	Het
Olfr548-ps1	A	T	7: 102,542,731	Q265L	probably benign	Het
Olfr801	T	A	10: 129,669,598	Y307F	probably benign	Het
Opa1	A	T	16: 29,629,635	N912Y	probably benign	Het
Pcnx	T	C	12: 81,996,095	V2317A	possibly damaging	Het
Phf3	A	T	1: 30,805,443	N1478K	possibly damaging	Het
Phykpl	G	A	11: 51,586,653	D91N	probably benign	Het
Polr2b	T	A	5: 77,343,263	C984S	probably damaging	Het
Ppfibp1	A	G	6: 146,998,233	R141G	probably benign	Het
Ppm1d	G	A	11: 85,326,905	G20R	probably damaging	Het
Ppp1r16a	C	T	15: 76,690,799		probably benign	Het
Ppp2r5b	C	A	19: 6,228,431	V483F	probably benign	Het
Ppp4r4	T	A	12: 103,576,374	C132S	probably benign	Het
Prg2	A	G	2: 84,983,456		probably benign	Het
Prpf4b	G	A	13: 34,890,488		probably benign	Het
Rad54l2	T	C	9: 106,713,455	T491A	probably damaging	Het
Rnf213	G	T	11: 119,414,587	W548L	probably damaging	Het
Rusc2	G	T	4: 43,422,055	C825F	probably damaging	Het
Sema4b	A	G	7: 80,219,078		probably benign	Het
Sema6a	A	G	18: 47,290,177	V254A	probably damaging	Het
Slc13a3	A	G	2: 165,424,581	F346L	probably damaging	Het
Slc25a17	T	C	15: 81,337,959	D104G	probably damaging	Het
Specc1	A	T	11: 62,146,313	N707Y	possibly damaging	Het
Tex48	T	A	4: 63,608,459	E76V	probably damaging	Het
Tfr2	T	C	5: 137,577,465	V281A	probably benign	Het
Tgfb1i1	A	C	7: 128,249,494	Q238H	probably damaging	Het
Thoc6	G	A	17: 23,670,239	T122I	probably benign	Het
Tmtc1	G	A	6: 148,412,830		probably benign	Het
Tnfrsf8	T	C	4: 145,288,047	D264G	possibly damaging	Het
Trim43a	T	A	9: 88,584,160	I178N	probably damaging	Het
Ttn	G	C	2: 76,707,093	I26503M	possibly damaging	Het
Usp28	C	A	9: 49,039,023	D589E	probably benign	Het
Utp23	T	C	15: 51,882,511	S242P	probably damaging	Het
Vwa3a	A	G	7: 120,775,380	Y305C	probably benign	Het
Vwa5b1	C	A	4: 138,608,858	E142*	probably null	Het
Xrn2	A	T	2: 147,029,779	T374S	probably damaging	Het
Zfp735	A	T	11: 73,710,662	Q144L	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGCTGCCAACACAAATCGTCTTG -3'
(R):5'- AATGTGCCTAACTGGAGCCACTG -3'

Sequencing Primer
(F):5'- CGTCATTTGCTGAAGTATCCAAGG -3'
(R):5'- ATGCTTCCAATGACTGGGAC -3'

Posted On

2013-04-11