Mutagenetix > Incidental Mutation

Incidental Mutation 'R0114:Nlrp9b'

20645

Institutional Source

Beutler Lab

Gene Symbol

Nlrp9b

Ensembl Gene

ENSMUSG00000060508

Gene Name

NLR family, pyrin domain containing 9B

Synonyms

Nalp9b, Nalp-delta

MMRRC Submission

038400-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0114 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

19725318-19796867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19757981 bp (GRCm39)

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]

AlphaFold

Q66X22

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: 28,861,978 (GRCm39)		probably benign	Het
4933427D14Rik	T	C	11: 72,086,625 (GRCm39)	Y262C	probably damaging	Het
Adamts1	C	A	16: 85,596,502 (GRCm39)	V379L	probably benign	Het
Akt3	T	C	1: 176,894,817 (GRCm39)	D260G	probably damaging	Het
Alms1	T	C	6: 85,596,785 (GRCm39)	L537P	probably benign	Het
Anln	A	T	9: 22,264,642 (GRCm39)	I876N	probably damaging	Het
Ano9	A	T	7: 140,683,152 (GRCm39)		probably benign	Het
Arhgef10l	T	C	4: 140,311,194 (GRCm39)	E218G	probably benign	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Atp9a	G	T	2: 168,552,776 (GRCm39)	Y63*	probably null	Het
Bmpr2	G	T	1: 59,854,499 (GRCm39)	C116F	probably damaging	Het
Cand1	T	C	10: 119,052,427 (GRCm39)	D233G	probably benign	Het
Cftr	A	T	6: 18,282,447 (GRCm39)	H1049L	probably damaging	Het
Ckap5	A	T	2: 91,450,457 (GRCm39)	D1975V	possibly damaging	Het
Cyp26c1	T	C	19: 37,675,081 (GRCm39)	V134A	probably benign	Het
Dnai1	T	C	4: 41,605,686 (GRCm39)		probably benign	Het
Dpp10	T	C	1: 123,413,821 (GRCm39)	I163V	probably benign	Het
Fam151a	A	T	4: 106,591,201 (GRCm39)	I15F	possibly damaging	Het
Fanca	A	T	8: 124,015,230 (GRCm39)		probably null	Het
Fes	A	G	7: 80,027,783 (GRCm39)	V787A	probably damaging	Het
Fnip1	C	T	11: 54,378,627 (GRCm39)		probably benign	Het
Gabpb1	A	G	2: 126,495,494 (GRCm39)	I86T	probably damaging	Het
Gmds	A	T	13: 32,411,264 (GRCm39)	S57T	probably benign	Het
Gnpat	T	G	8: 125,610,096 (GRCm39)	D426E	probably benign	Het
Gnptab	C	A	10: 88,269,262 (GRCm39)	P655Q	possibly damaging	Het
Gpi-ps	A	G	8: 5,690,359 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,369,128 (GRCm39)	F2941I	probably damaging	Het
Herc2	T	C	7: 55,803,522 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Itga11	T	G	9: 62,642,575 (GRCm39)	V166G	probably damaging	Het
Itga11	T	C	9: 62,667,584 (GRCm39)	V639A	possibly damaging	Het
Itpr2	A	G	6: 146,214,377 (GRCm39)	F1490S	probably damaging	Het
Lama2	C	A	10: 26,869,064 (GRCm39)	E802*	probably null	Het
Lgi3	C	T	14: 70,768,469 (GRCm39)		probably benign	Het
Limch1	C	T	5: 67,193,427 (GRCm39)		probably benign	Het
Lipc	T	C	9: 70,711,063 (GRCm39)	N363S	probably damaging	Het
Lrit2	A	G	14: 36,790,002 (GRCm39)		probably null	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mug2	A	G	6: 122,017,607 (GRCm39)	Y448C	probably damaging	Het
Mybpc3	A	G	2: 90,954,839 (GRCm39)	E450G	probably damaging	Het
Myo5b	A	T	18: 74,875,242 (GRCm39)	T1549S	probably benign	Het
Naa15	T	C	3: 51,355,859 (GRCm39)		probably null	Het
Nckap1l	T	A	15: 103,363,455 (GRCm39)	C54S	probably benign	Het
Nprl3	T	A	11: 32,189,784 (GRCm39)		probably benign	Het
Nvl	A	G	1: 180,947,956 (GRCm39)	V429A	probably benign	Het
Opa1	A	T	16: 29,448,453 (GRCm39)	N912Y	probably benign	Het
Or14j3	A	T	17: 37,900,306 (GRCm39)	*313K	probably null	Het
Or1x2	G	A	11: 50,918,431 (GRCm39)	V201I	probably benign	Het
Or52b4i	A	T	7: 102,191,938 (GRCm39)	Q265L	probably benign	Het
Or6c211	T	A	10: 129,505,467 (GRCm39)	Y307F	probably benign	Het
Pcnx1	T	C	12: 82,042,869 (GRCm39)	V2317A	possibly damaging	Het
Phf3	A	T	1: 30,844,524 (GRCm39)	N1478K	possibly damaging	Het
Phykpl	G	A	11: 51,477,480 (GRCm39)	D91N	probably benign	Het
Polr2b	T	A	5: 77,491,110 (GRCm39)	C984S	probably damaging	Het
Ppfibp1	A	G	6: 146,899,731 (GRCm39)	R141G	probably benign	Het
Ppm1d	G	A	11: 85,217,731 (GRCm39)	G20R	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Ppp2r5b	C	A	19: 6,278,461 (GRCm39)	V483F	probably benign	Het
Ppp4r4	T	A	12: 103,542,633 (GRCm39)	C132S	probably benign	Het
Prg2	A	G	2: 84,813,800 (GRCm39)		probably benign	Het
Prpf4b	G	A	13: 35,074,471 (GRCm39)		probably benign	Het
Rad54l2	T	C	9: 106,590,654 (GRCm39)	T491A	probably damaging	Het
Rnf213	G	T	11: 119,305,413 (GRCm39)	W548L	probably damaging	Het
Rusc2	G	T	4: 43,422,055 (GRCm39)	C825F	probably damaging	Het
Sema4b	A	G	7: 79,868,826 (GRCm39)		probably benign	Het
Sema6a	A	G	18: 47,423,244 (GRCm39)	V254A	probably damaging	Het
Slc13a3	A	G	2: 165,266,501 (GRCm39)	F346L	probably damaging	Het
Slc25a17	T	C	15: 81,222,160 (GRCm39)	D104G	probably damaging	Het
Specc1	A	T	11: 62,037,139 (GRCm39)	N707Y	possibly damaging	Het
Tex48	T	A	4: 63,526,696 (GRCm39)	E76V	probably damaging	Het
Tfr2	T	C	5: 137,575,727 (GRCm39)	V281A	probably benign	Het
Tgfb1i1	A	C	7: 127,848,666 (GRCm39)	Q238H	probably damaging	Het
Thoc6	G	A	17: 23,889,213 (GRCm39)	T122I	probably benign	Het
Tmtc1	G	A	6: 148,314,328 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 145,014,617 (GRCm39)	D264G	possibly damaging	Het
Trim43a	T	A	9: 88,466,213 (GRCm39)	I178N	probably damaging	Het
Ttn	G	C	2: 76,537,437 (GRCm39)	I26503M	possibly damaging	Het
Usp28	C	A	9: 48,950,323 (GRCm39)	D589E	probably benign	Het
Utp23	T	C	15: 51,745,907 (GRCm39)	S242P	probably damaging	Het
Vwa3a	A	G	7: 120,374,603 (GRCm39)	Y305C	probably benign	Het
Vwa5b1	C	A	4: 138,336,169 (GRCm39)	E142*	probably null	Het
Xrn2	A	T	2: 146,871,699 (GRCm39)	T374S	probably damaging	Het
Zfp735	A	T	11: 73,601,488 (GRCm39)	Q144L	probably benign	Het

Other mutations in Nlrp9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Nlrp9b	APN	7	19,757,203 (GRCm39)	missense	probably benign	0.43
IGL00675:Nlrp9b	APN	7	19,757,111 (GRCm39)	missense	possibly damaging	0.63
IGL00755:Nlrp9b	APN	7	19,757,447 (GRCm39)	missense	probably damaging	1.00
IGL01131:Nlrp9b	APN	7	19,757,462 (GRCm39)	missense	probably damaging	1.00
IGL01134:Nlrp9b	APN	7	19,757,112 (GRCm39)	missense	probably benign	0.06
IGL01464:Nlrp9b	APN	7	19,796,580 (GRCm39)	missense	probably benign	0.00
IGL01514:Nlrp9b	APN	7	19,779,859 (GRCm39)	critical splice donor site	probably null
IGL01731:Nlrp9b	APN	7	19,757,342 (GRCm39)	nonsense	probably null
IGL02427:Nlrp9b	APN	7	19,776,426 (GRCm39)	missense	probably damaging	1.00
IGL03013:Nlrp9b	APN	7	19,782,750 (GRCm39)	missense	probably damaging	1.00
R0037:Nlrp9b	UTSW	7	19,757,647 (GRCm39)	missense	probably damaging	0.99
R0276:Nlrp9b	UTSW	7	19,762,423 (GRCm39)	missense	probably benign	0.21
R0346:Nlrp9b	UTSW	7	19,758,440 (GRCm39)	missense	probably damaging	0.99
R0736:Nlrp9b	UTSW	7	19,783,375 (GRCm39)	missense	probably damaging	1.00
R1449:Nlrp9b	UTSW	7	19,757,089 (GRCm39)	missense	possibly damaging	0.91
R1540:Nlrp9b	UTSW	7	19,782,772 (GRCm39)	nonsense	probably null
R1648:Nlrp9b	UTSW	7	19,760,469 (GRCm39)	missense	possibly damaging	0.89
R1878:Nlrp9b	UTSW	7	19,762,489 (GRCm39)	missense	probably benign	0.01
R1903:Nlrp9b	UTSW	7	19,757,182 (GRCm39)	missense	probably benign	0.44
R2191:Nlrp9b	UTSW	7	19,757,587 (GRCm39)	missense	probably benign
R4572:Nlrp9b	UTSW	7	19,760,606 (GRCm39)	critical splice donor site	probably null
R4863:Nlrp9b	UTSW	7	19,783,521 (GRCm39)	critical splice donor site	probably null
R4939:Nlrp9b	UTSW	7	19,758,421 (GRCm39)	missense	probably damaging	0.99
R5211:Nlrp9b	UTSW	7	19,783,381 (GRCm39)	missense	probably damaging	1.00
R5329:Nlrp9b	UTSW	7	19,757,916 (GRCm39)	missense	probably damaging	1.00
R5580:Nlrp9b	UTSW	7	19,757,089 (GRCm39)	missense	probably damaging	0.98
R5696:Nlrp9b	UTSW	7	19,758,417 (GRCm39)	missense	probably benign	0.02
R6265:Nlrp9b	UTSW	7	19,796,608 (GRCm39)	missense	probably benign
R6456:Nlrp9b	UTSW	7	19,782,703 (GRCm39)	missense	probably damaging	1.00
R6672:Nlrp9b	UTSW	7	19,753,263 (GRCm39)	missense	probably damaging	1.00
R6750:Nlrp9b	UTSW	7	19,757,159 (GRCm39)	nonsense	probably null
R6896:Nlrp9b	UTSW	7	19,757,170 (GRCm39)	missense	probably damaging	0.96
R6968:Nlrp9b	UTSW	7	19,783,433 (GRCm39)	missense	probably damaging	1.00
R7108:Nlrp9b	UTSW	7	19,779,855 (GRCm39)	missense	probably damaging	1.00
R7287:Nlrp9b	UTSW	7	19,762,381 (GRCm39)	missense	probably damaging	0.97
R7297:Nlrp9b	UTSW	7	19,783,438 (GRCm39)	missense	possibly damaging	0.81
R7485:Nlrp9b	UTSW	7	19,757,875 (GRCm39)	missense	probably damaging	1.00
R7552:Nlrp9b	UTSW	7	19,779,691 (GRCm39)	missense	probably benign	0.04
R7573:Nlrp9b	UTSW	7	19,753,125 (GRCm39)	missense	probably damaging	1.00
R7690:Nlrp9b	UTSW	7	19,758,295 (GRCm39)	missense	probably benign	0.00
R7839:Nlrp9b	UTSW	7	19,758,398 (GRCm39)	missense	possibly damaging	0.49
R7913:Nlrp9b	UTSW	7	19,779,725 (GRCm39)	missense	probably benign	0.07
R7968:Nlrp9b	UTSW	7	19,762,493 (GRCm39)	missense	probably benign	0.01
R8113:Nlrp9b	UTSW	7	19,753,260 (GRCm39)	missense	probably benign	0.02
R8273:Nlrp9b	UTSW	7	19,757,986 (GRCm39)	missense	possibly damaging	0.89
R8400:Nlrp9b	UTSW	7	19,757,937 (GRCm39)	nonsense	probably null
R9047:Nlrp9b	UTSW	7	19,757,401 (GRCm39)	missense	possibly damaging	0.80
R9224:Nlrp9b	UTSW	7	19,757,476 (GRCm39)	missense	probably benign	0.44
R9224:Nlrp9b	UTSW	7	19,753,217 (GRCm39)	missense	probably benign	0.00
R9291:Nlrp9b	UTSW	7	19,758,511 (GRCm39)	missense	possibly damaging	0.80
R9348:Nlrp9b	UTSW	7	19,757,336 (GRCm39)	missense	probably damaging	1.00
R9398:Nlrp9b	UTSW	7	19,783,435 (GRCm39)	missense	probably damaging	1.00
R9442:Nlrp9b	UTSW	7	19,779,707 (GRCm39)	missense	possibly damaging	0.84
R9495:Nlrp9b	UTSW	7	19,760,462 (GRCm39)	missense	possibly damaging	0.64
R9598:Nlrp9b	UTSW	7	19,753,302 (GRCm39)	missense	probably benign	0.17
R9757:Nlrp9b	UTSW	7	19,782,617 (GRCm39)	missense	probably damaging	1.00
X0064:Nlrp9b	UTSW	7	19,782,683 (GRCm39)	missense	probably damaging	1.00
Z1088:Nlrp9b	UTSW	7	19,757,668 (GRCm39)	missense	probably benign	0.01
Z1177:Nlrp9b	UTSW	7	19,760,571 (GRCm39)	missense	probably benign	0.00

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