Mutagenetix > Incidental Mutation

Incidental Mutation 'R9224:Nlrp9b'

699675

Institutional Source

Beutler Lab

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 #

R9224 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19725318-19796867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19753217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 41 (S41P)

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: S41P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000072895
Gene: ENSMUSG00000060508
AA Change: S41P

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

unknown
Transcript: ENSMUST00000117909
AA Change: S41P

SMART Domains

Protein: ENSMUSP00000113762
Gene: ENSMUSG00000060508
AA Change: S41P

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: S41P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000115158
Gene: ENSMUSG00000060508
AA Change: S41P

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,767,100 (GRCm39)	S229L	possibly damaging	Het
Actc1	TGA	T	2: 113,879,710 (GRCm39)		probably null	Het
Actl9	G	A	17: 33,653,004 (GRCm39)	A355T	probably benign	Het
Adamts8	A	G	9: 30,854,188 (GRCm39)	Q19R	probably benign	Het
Akr1c14	A	T	13: 4,130,695 (GRCm39)	Y216F	possibly damaging	Het
Alms1	T	C	6: 85,598,770 (GRCm39)	C1199R	possibly damaging	Het
Apc2	T	C	10: 80,150,111 (GRCm39)	S1722P	probably damaging	Het
Arid1a	T	C	4: 133,409,167 (GRCm39)	E1395G	unknown	Het
Atp6v0e2	T	C	6: 48,516,190 (GRCm39)	V46A	possibly damaging	Het
Bcar3	A	G	3: 122,319,091 (GRCm39)	R743G	probably damaging	Het
Bhmt2	A	G	13: 93,805,854 (GRCm39)	V56A	probably damaging	Het
Bsn	C	A	9: 107,982,686 (GRCm39)	R917L		Het
Cabyr	T	G	18: 12,887,278 (GRCm39)	V303G	possibly damaging	Het
Carmil1	A	T	13: 24,292,512 (GRCm39)	I429N	probably damaging	Het
Ccdc27	T	C	4: 154,122,174 (GRCm39)	N235D	unknown	Het
Ccdc61	T	C	7: 18,637,746 (GRCm39)	M37V	probably benign	Het
Cd40	A	T	2: 164,898,716 (GRCm39)	I48F	unknown	Het
Cdk13	A	T	13: 17,941,071 (GRCm39)	S664R	probably damaging	Het
Cel	TTA	TTATA	2: 28,449,441 (GRCm39)		probably null	Het
Cfap46	T	A	7: 139,258,416 (GRCm39)	R286*	probably null	Het
Ckap2	A	C	8: 22,659,954 (GRCm39)	I509S	possibly damaging	Het
Clptm1l	A	T	13: 73,752,344 (GRCm39)		probably benign	Het
Col11a1	T	G	3: 114,001,929 (GRCm39)	M1591R	unknown	Het
Col6a5	C	A	9: 105,814,594 (GRCm39)	A473S	unknown	Het
Cxcr2	T	A	1: 74,197,756 (GRCm39)	D83E	probably damaging	Het
Cyp2c39	G	A	19: 39,527,332 (GRCm39)	C226Y	probably benign	Het
Ddr1	A	C	17: 36,000,609 (GRCm39)	F352C	probably damaging	Het
Defb22	T	A	2: 152,327,721 (GRCm39)	T155S	unknown	Het
Dennd4c	G	T	4: 86,738,170 (GRCm39)	E935*	probably null	Het
Dst	A	C	1: 34,330,879 (GRCm39)	E4889D	probably damaging	Het
Efcab3	A	G	11: 104,661,801 (GRCm39)	Q1314R	probably benign	Het
Emilin1	T	A	5: 31,074,823 (GRCm39)	C355S	probably damaging	Het
Enpp3	C	T	10: 24,650,716 (GRCm39)	V807I	probably benign	Het
Fcnb	T	A	2: 27,969,160 (GRCm39)	D179V	probably damaging	Het
Ficd	T	A	5: 113,875,196 (GRCm39)	D88E	probably benign	Het
Fndc3b	T	C	3: 27,524,450 (GRCm39)	K437E	possibly damaging	Het
Fyb2	T	A	4: 104,853,105 (GRCm39)	W566R	probably benign	Het
Gm14403	A	G	2: 177,200,336 (GRCm39)	Q94R	probably benign	Het
Gm32687	T	A	10: 81,714,866 (GRCm39)	I86N	probably benign	Het
Gpam	T	G	19: 55,075,907 (GRCm39)	D235A	probably damaging	Het
Gstt4	T	C	10: 75,651,046 (GRCm39)	E192G	probably damaging	Het
H2-Q6	T	G	17: 35,644,309 (GRCm39)	V97G	probably benign	Het
Hcn1	G	A	13: 118,062,254 (GRCm39)	G507S	unknown	Het
Hydin	T	C	8: 111,259,516 (GRCm39)	I2496T	probably benign	Het
Jund	A	G	8: 71,151,864 (GRCm39)	D53G	probably damaging	Het
Kat6b	T	A	14: 21,720,031 (GRCm39)	M1461K	probably benign	Het
Lnx1	T	G	5: 74,766,810 (GRCm39)	K435Q	probably benign	Het
Lpcat1	C	A	13: 73,658,161 (GRCm39)	L316M	probably damaging	Het
Lrrtm3	ATTTT	ATTTTT	10: 63,925,035 (GRCm39)		probably null	Het
Ly6c1	T	A	15: 74,916,465 (GRCm39)	T126S	probably benign	Het
Macf1	A	G	4: 123,326,690 (GRCm39)	S4938P	probably damaging	Het
Map2k2	T	C	10: 80,954,008 (GRCm39)	V158A	possibly damaging	Het
Map3k4	A	G	17: 12,456,973 (GRCm39)	V1323A	probably damaging	Het
Map4k5	A	T	12: 69,939,467 (GRCm39)	V23E	possibly damaging	Het
Med30	T	G	15: 52,582,839 (GRCm39)	L92R	probably damaging	Het
Mroh8	C	T	2: 157,063,069 (GRCm39)	G851S	possibly damaging	Het
Msmb	T	A	14: 31,880,060 (GRCm39)	C83*	probably null	Het
Mtif2	A	T	11: 29,494,364 (GRCm39)	R655S	probably benign	Het
Myo10	C	T	15: 25,808,081 (GRCm39)	S1901L	probably benign	Het
Myom2	A	T	8: 15,178,804 (GRCm39)	I1279F	possibly damaging	Het
Nat9	T	C	11: 115,075,441 (GRCm39)	I67V	probably damaging	Het
Ncam1	A	G	9: 49,419,995 (GRCm39)	S774P	probably damaging	Het
Ndufaf6	T	C	4: 11,062,089 (GRCm39)	T181A	probably damaging	Het
Nlrp4f	T	A	13: 65,332,829 (GRCm39)	K110*	probably null	Het
Noxo1	A	T	17: 24,919,305 (GRCm39)	E342D	probably benign	Het
Nt5dc2	T	C	14: 30,857,665 (GRCm39)	M55T	probably benign	Het
Or1j14	A	T	2: 36,417,838 (GRCm39)	Q138L	probably benign	Het
Or2ag18	T	C	7: 106,405,489 (GRCm39)	Y60C	probably damaging	Het
Or2f1	T	C	6: 42,721,904 (GRCm39)	F311S	probably benign	Het
Or2h2c	T	C	17: 37,422,767 (GRCm39)	T36A	possibly damaging	Het
Or5al6	T	A	2: 85,976,220 (GRCm39)	N286I	probably damaging	Het
Or6c210	C	A	10: 129,496,007 (GRCm39)	L111M	probably damaging	Het
Or6c6	T	A	10: 129,186,450 (GRCm39)	M6K	probably benign	Het
Or9s18	C	T	13: 65,300,203 (GRCm39)	T55I	probably damaging	Het
P4ha2	C	T	11: 54,009,963 (GRCm39)	P240L	possibly damaging	Het
Pcdha11	T	A	18: 37,139,073 (GRCm39)	L234Q	probably damaging	Het
Pgm3	C	T	9: 86,438,415 (GRCm39)	A457T	probably benign	Het
Pira12	T	C	7: 3,900,234 (GRCm39)	T123A	probably benign	Het
Pkp4	T	C	2: 59,144,738 (GRCm39)	V533A	probably benign	Het
Plac8l1	T	C	18: 42,325,702 (GRCm39)	T68A	possibly damaging	Het
Pou2f3	A	T	9: 43,050,694 (GRCm39)	I222N	probably damaging	Het
Ppp1r14d	T	C	2: 119,060,222 (GRCm39)	D20G	probably benign	Het
Ppp1r37	C	A	7: 19,265,729 (GRCm39)	G679V	probably damaging	Het
Ppp6r2	T	A	15: 89,146,599 (GRCm39)	I199N	probably damaging	Het
Prune2	A	G	19: 17,097,393 (GRCm39)	T966A	probably damaging	Het
Ptdss2	T	C	7: 140,734,798 (GRCm39)	V375A	probably benign	Het
Rara	TGCCCCGC	TGCCCCGCCCCGC	11: 98,857,236 (GRCm39)		probably null	Het
Rin2	T	A	2: 145,720,822 (GRCm39)	C718*	probably null	Het
Rptor	C	T	11: 119,785,113 (GRCm39)	T1170I	probably benign	Het
Samd5	T	C	10: 9,550,259 (GRCm39)	Y150C	probably damaging	Het
Setd1b	T	C	5: 123,296,773 (GRCm39)	S1245P	unknown	Het
Sipa1l2	T	C	8: 126,218,716 (GRCm39)	E207G	probably damaging	Het
Slc29a1	C	A	17: 45,897,153 (GRCm39)	V378L	probably damaging	Het
Slc2a12	T	G	10: 22,541,261 (GRCm39)	I372S	possibly damaging	Het
Slc7a10	T	A	7: 34,894,639 (GRCm39)	Y99*	probably null	Het
Smco3	A	G	6: 136,808,517 (GRCm39)	V119A	probably damaging	Het
Sptlc3	C	T	2: 139,336,154 (GRCm39)	T10I	probably benign	Het
Sri	T	A	5: 8,113,323 (GRCm39)	W105R	probably damaging	Het
Stk35	T	C	2: 129,652,491 (GRCm39)	Y331H	probably damaging	Het
Tipin	T	C	9: 64,195,430 (GRCm39)	I12T	probably benign	Het
Tlr5	A	G	1: 182,802,693 (GRCm39)	T666A	probably benign	Het
Tmprss11g	C	A	5: 86,640,003 (GRCm39)	V222L	probably benign	Het
Tnfrsf11b	T	A	15: 54,115,556 (GRCm39)	Y347F	possibly damaging	Het
Traf6	A	G	2: 101,527,512 (GRCm39)	T421A	probably benign	Het
Trrap	T	A	5: 144,708,049 (GRCm39)	D30E	possibly damaging	Het
Ube2k	T	A	5: 65,751,847 (GRCm39)	Y162N	probably damaging	Het
Uck2	A	T	1: 167,065,171 (GRCm39)	V49E	probably damaging	Het
Vcam1	A	T	3: 115,904,592 (GRCm39)	Y718*	probably null	Het
Zan	T	C	5: 137,472,269 (GRCm39)	N159S	probably damaging	Het
Zfp438	A	G	18: 5,210,788 (GRCm39)	L750P	probably damaging	Het
Zfp54	A	T	17: 21,654,037 (GRCm39)	Y177F	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
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
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'- TGACACTCATCTAATTATTCCTCAGG -3'
(R):5'- GGCTAGTTCCCAACATTCCC -3'

Sequencing Primer
(F):5'- TCCTCAGGTATCACTTATGTCTTTG -3'
(R):5'- AGTTCCCAACATTCCCCCTTTC -3'

Posted On

2022-02-07