Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00675:Nlrp9b'

12392

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp9b

Ensembl Gene

ENSMUSG00000060508

Gene Name

NLR family, pyrin domain containing 9B

Synonyms

Nalp9b, Nalp-delta

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00675

Quality Score

Status

Chromosome

Chromosomal Location

19725318-19796867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19757111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 116 (I116K)

Ref Sequence

ENSEMBL: ENSMUSP00000113762 (fasta)

Gene Model

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

AlphaFold

Q66X22

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073151
AA Change: I116K

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: I116K

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

possibly damaging
Transcript: ENSMUST00000117909
AA Change: I116K

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113762
Gene: ENSMUSG00000060508
AA Change: I116K

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
AA Change: I116K

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115158
Gene: ENSMUSG00000060508
AA Change: I116K

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

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,195,811 (GRCm39)	D549E	probably damaging	Het
Abcc9	A	G	6: 142,610,347 (GRCm39)	F606L	probably damaging	Het
Bltp3a	C	T	17: 28,095,891 (GRCm39)		probably benign	Het
Canx	A	G	11: 50,191,823 (GRCm39)	S363P	possibly damaging	Het
Cdh6	T	C	15: 13,041,525 (GRCm39)	D513G	possibly damaging	Het
Cyp11a1	G	T	9: 57,926,596 (GRCm39)	G111W	probably damaging	Het
Dnm1l	A	G	16: 16,151,691 (GRCm39)		probably null	Het
Dsg1b	T	A	18: 20,524,975 (GRCm39)	L137*	probably null	Het
Kcnh5	A	T	12: 75,160,963 (GRCm39)		probably null	Het
Kcnu1	A	G	8: 26,341,877 (GRCm39)	E74G	probably benign	Het
Notch2	T	C	3: 98,018,991 (GRCm39)	Y718H	possibly damaging	Het
Prkdc	T	C	16: 15,605,022 (GRCm39)	L2980P	probably benign	Het
Samm50	C	T	15: 84,084,576 (GRCm39)	S171F	possibly damaging	Het
Saraf	T	A	8: 34,634,962 (GRCm39)	S288T	probably benign	Het
Ubr5	C	T	15: 38,018,528 (GRCm39)	V865I	possibly damaging	Het
Vnn3	G	T	10: 23,743,066 (GRCm39)	K425N	possibly damaging	Het
Zswim8	T	C	14: 20,766,969 (GRCm39)		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
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
R0114:Nlrp9b	UTSW	7	19,757,981 (GRCm39)	missense	probably benign	0.00
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

Posted On

2012-12-06