Mutagenetix > Incidental Mutation

Incidental Mutation 'R6968:Nlrp9b'

542105

Institutional Source

Beutler Lab

Gene Symbol

Nlrp9b

Ensembl Gene

ENSMUSG00000060508

Gene Name

NLR family, pyrin domain containing 9B

Synonyms

Nalp-delta, Nalp9b

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6968 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19991465-20073306 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20049508 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 925 (N925K)

Ref Sequence

ENSEMBL: ENSMUSP00000072895 (fasta)

Gene Model

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

AlphaFold

Q66X22

Predicted Effect

probably damaging
Transcript: ENSMUST00000073151
AA Change: N925K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: N925K

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: N428K

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000113762
Gene: ENSMUSG00000060508
AA Change: N428K

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

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.1%

Validation Efficiency

97% (57/59)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apip	C	T	2: 103,089,453	L125F	possibly damaging	Het
Arfgef1	T	C	1: 10,153,678	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679	Q1465K	probably damaging	Het
Arhgef5	T	C	6: 43,275,342	V1009A	probably benign	Het
Armc4	T	C	18: 7,273,155		probably null	Het
Asah2	A	T	19: 32,012,513	I489K	probably benign	Het
Bace1	A	G	9: 45,854,965		probably null	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Ccdc162	T	C	10: 41,673,844	T348A	possibly damaging	Het
Cdkn2aip	C	A	8: 47,713,887		probably benign	Het
Cep78	A	C	19: 15,981,738	F111V	probably benign	Het
Chd4	T	A	6: 125,108,318	L784Q	probably damaging	Het
Chrna6	C	T	8: 27,406,655	C398Y	probably benign	Het
Cmip	T	C	8: 117,377,156	Y128H	probably damaging	Het
Cpne2	C	T	8: 94,548,502	P46L	probably damaging	Het
Cyp2w1	A	G	5: 139,353,991	Q112R	probably damaging	Het
Entpd3	A	T	9: 120,560,656	E336V	probably benign	Het
Fbxw28	A	C	9: 109,330,788	S197A	probably benign	Het
Foxk2	T	C	11: 121,260,482	F118L	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,649,576		probably benign	Het
Hinfp	A	C	9: 44,297,985	S306A	probably benign	Het
Hspg2	T	A	4: 137,535,156	V1663E	probably damaging	Het
Inpp4b	T	C	8: 81,844,457	I125T	probably benign	Het
Jag2	C	T	12: 112,914,258	E592K	probably benign	Het
Krt23	T	A	11: 99,481,074	E317V	probably damaging	Het
Ltbp2	C	T	12: 84,789,083		probably null	Het
Mast4	G	T	13: 102,798,078	N152K	probably damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mier2	G	A	10: 79,540,642		probably benign	Het
Mmp9	A	G	2: 164,952,940	T584A	probably benign	Het
Necab1	T	C	4: 14,957,852	E335G	probably damaging	Het
Nr4a2	T	C	2: 57,108,746		probably null	Het
Nrg2	T	C	18: 36,196,446	I239V	probably benign	Het
Nsun2	A	G	13: 69,631,290	D562G	probably benign	Het
Olfr391-ps	A	G	11: 73,799,379	I126T	possibly damaging	Het
Ormdl3	T	A	11: 98,584,115	M1L	probably benign	Het
Pcdh10	T	A	3: 45,379,542	V97D	probably damaging	Het
Pde3a	T	C	6: 141,487,932	F847L	probably damaging	Het
Ppp1r13b	C	A	12: 111,833,178	V722F	possibly damaging	Het
Rhoh	A	G	5: 65,892,519	D44G	possibly damaging	Het
Riox1	C	T	12: 83,951,373	R228C	probably damaging	Het
Rtl1	C	T	12: 109,594,679	R242Q	unknown	Het
Saxo2	T	C	7: 82,643,761	T43A	probably damaging	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Sema3f	C	T	9: 107,691,449		probably null	Het
Snap25	T	C	2: 136,769,770	M64T	probably benign	Het
Spef2	T	C	15: 9,597,340	N1410S	probably benign	Het
Sstr2	T	C	11: 113,624,948	I231T	probably damaging	Het
Stam	A	T	2: 14,116,018	H78L	probably damaging	Het
Suox	C	T	10: 128,671,833	V109I	possibly damaging	Het
Syne1	T	C	10: 5,117,041	R7075G	probably benign	Het
Tenm3	C	T	8: 48,236,439	D2038N	probably damaging	Het
Tln1	C	T	4: 43,550,217	R482Q	probably benign	Het
Tnrc6a	T	C	7: 123,182,427	V1440A	probably benign	Het
Togaram2	A	G	17: 71,709,613	D655G	probably damaging	Het
Trgv2	A	T	13: 19,336,726	I66K	probably damaging	Het
Vmn1r113	A	T	7: 20,787,951	I223F	probably damaging	Het
Vmn2r62	T	A	7: 42,788,442	H206L	probably benign	Het
Zan	T	A	5: 137,461,813	Y1272F	unknown	Het
Zfp39	T	C	11: 58,891,480	H152R	probably benign	Het
Zfp41	T	A	15: 75,618,461	Y87*	probably null	Het
Zfp933	A	T	4: 147,826,197	L314H	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AACATCTTGGGGTCACAAATCC -3'
(R):5'- CAGTGGGTTTGACCTTGAGC -3'

Sequencing Primer
(F):5'- GCTCTGAAACAAGGATTTGCTCAGTG -3'
(R):5'- GGTTTGACCTTGAGCAAACTGACAC -3'

Posted On

2018-11-28