Mutagenetix > Incidental Mutation

Incidental Mutation 'R1878:Nlrp9b'

211302

Institutional Source

Beutler Lab

Gene Symbol

Nlrp9b

Ensembl Gene

ENSMUSG00000060508

Gene Name

NLR family, pyrin domain containing 9B

Synonyms

Nalp-delta, Nalp9b

MMRRC Submission

039899-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1878 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19991465-20073306 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20028564 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 269 (T269A)

Ref Sequence

ENSEMBL: ENSMUSP00000113762 (fasta)

Gene Model

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

AlphaFold

Q66X22

Predicted Effect

probably benign
Transcript: ENSMUST00000073151
AA Change: T709A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: T709A

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: T269A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113762
Gene: ENSMUSG00000060508
AA Change: T269A

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: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,514,638		probably null	Het
Abcb9	A	G	5: 124,090,136	V14A	probably benign	Het
Adcy4	T	C	14: 55,769,905	D950G	probably damaging	Het
Ahctf1	T	C	1: 179,775,509	D828G	possibly damaging	Het
Ak2	T	A	4: 129,002,167	V79D	probably damaging	Het
Arhgap29	T	C	3: 122,011,371	Y870H	probably damaging	Het
Arid4a	A	G	12: 71,087,589	K1222E	probably damaging	Het
Armc1	A	T	3: 19,157,544	D37E	probably damaging	Het
Cenpm	A	T	15: 82,234,415	M166K	probably benign	Het
Cep97	G	T	16: 55,905,226	P766Q	probably damaging	Het
Col19a1	G	T	1: 24,317,395	D672E	probably benign	Het
Col6a2	T	C	10: 76,614,788	D103G	probably benign	Het
Ddi2	T	C	4: 141,684,149	E484G	probably benign	Het
Dph1	T	C	11: 75,184,227	D100G	probably damaging	Het
Dsp	A	T	13: 38,164,855	I100F	possibly damaging	Het
Fam222b	T	C	11: 78,143,216		probably null	Het
Folh1	A	T	7: 86,771,742	H126Q	probably benign	Het
Gapvd1	A	T	2: 34,725,200	D428E	probably benign	Het
Gm11564	A	T	11: 99,815,440	C55S	unknown	Het
Gm14139	T	A	2: 150,193,069	C437S	probably damaging	Het
Gne	T	C	4: 44,040,434	I577V	probably damaging	Het
Gpr4	A	G	7: 19,223,124	T324A	probably damaging	Het
Hhipl1	A	T	12: 108,320,060	N542I	possibly damaging	Het
Ice2	T	C	9: 69,428,576		probably null	Het
Irgm1	C	T	11: 48,866,070	V305I	probably benign	Het
Itgal	C	A	7: 127,310,671	Q73K	probably benign	Het
Jcad	C	A	18: 4,673,857	H540N	possibly damaging	Het
Jkamp	T	A	12: 72,094,104	V141D	possibly damaging	Het
Lrrc9	T	C	12: 72,476,164		probably null	Het
Mcc	T	C	18: 44,468,400	R621G	possibly damaging	Het
Myd88	T	A	9: 119,338,620	Q140L	probably benign	Het
Mylk3	A	T	8: 85,355,399	N323K	possibly damaging	Het
Myrip	C	T	9: 120,424,655	R265W	probably damaging	Het
N4bp1	A	T	8: 86,861,541	S256R	probably damaging	Het
Nhsl1	T	G	10: 18,524,279	S418A	probably damaging	Het
Nmt1	A	G	11: 103,052,251	N144S	probably benign	Het
Npvf	G	A	6: 50,654,323	T24I	probably benign	Het
Obscn	T	G	11: 58,995,553	Y2347S	probably damaging	Het
Olfr1202	A	G	2: 88,817,461	T97A	probably benign	Het
Olfr125	T	C	17: 37,835,362	V121A	probably benign	Het
Olfr135	T	C	17: 38,208,374	I43T	probably benign	Het
Olfr170	G	T	16: 19,605,751	Q306K	probably benign	Het
Olfr345	G	T	2: 36,640,189	R50M	possibly damaging	Het
Olfr624	A	C	7: 103,670,182	M283R	probably damaging	Het
Olfr8	T	A	10: 78,955,805	M200K	possibly damaging	Het
Olfr975	T	A	9: 39,950,757	T5S	probably benign	Het
Osgin2	A	T	4: 16,005,493	V131D	probably damaging	Het
Pcdhac2	A	T	18: 37,145,162	K398N	possibly damaging	Het
Pcnp	A	T	16: 56,018,487	M143K	probably damaging	Het
Ppp3ca	A	G	3: 136,797,878	I71V	probably benign	Het
Ppp4c	G	T	7: 126,787,607	R103S	probably damaging	Het
Prl2c2	T	A	13: 13,005,326	M1L	probably damaging	Het
Recql5	A	T	11: 115,895,101	D615E	probably benign	Het
Robo3	T	C	9: 37,422,165	E728G	probably damaging	Het
Rps27l	T	A	9: 66,947,629		probably null	Het
Scube3	T	A	17: 28,152,413	V34E	probably benign	Het
Sez6l	A	G	5: 112,475,223	I154T	probably damaging	Het
Sgsm1	G	A	5: 113,263,515	L782F	probably damaging	Het
Slc35c1	A	G	2: 92,459,053	V36A	probably benign	Het
Snapc4	A	G	2: 26,376,153		probably null	Het
Sohlh2	C	A	3: 55,207,643	R350S	probably damaging	Het
Spag1	G	A	15: 36,181,770	E25K	probably damaging	Het
Sspo	G	A	6: 48,459,366	A1217T	possibly damaging	Het
Stil	T	C	4: 115,041,226	S1018P	probably damaging	Het
Strn	T	C	17: 78,677,326	E117G	possibly damaging	Het
Syt17	A	T	7: 118,434,245	M180K	probably benign	Het
Trem1	T	C	17: 48,241,488	S18P	possibly damaging	Het
Tsta3	A	G	15: 75,925,369	S306P	probably benign	Het
Umad1	T	A	6: 8,427,181	F145I	probably damaging	Het
Unc80	A	C	1: 66,509,402	H611P	probably damaging	Het
Zfp709	A	G	8: 71,890,047	E440G	probably damaging	Het
Zfp764	C	A	7: 127,405,042	A306S	probably benign	Het
Zfp949	T	A	9: 88,569,303	S309T	probably damaging	Het
Zswim4	T	C	8: 84,212,776	N826D	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TTGGTCAGCCATGTACCCAC -3'
(R):5'- TTCATAACTGAGACACATGTAGTGC -3'

Sequencing Primer
(F):5'- GCCATGTACCCACACATCCTAG -3'
(R):5'- AGTGCTATATTTTCACTTGCATTTGC -3'

Posted On

2014-06-30