Mutagenetix > Incidental Mutation

Incidental Mutation 'R7226:Nlrp9a'

562156

Institutional Source

Beutler Lab

Gene Symbol

Nlrp9a

Ensembl Gene

ENSMUSG00000054102

Gene Name

NLR family, pyrin domain containing 9A

Synonyms

Nalp9a, Nalp-theta, D7Ertd565e

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R7226 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26535023-26575615 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26558724 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 589 (N589I)

Ref Sequence

ENSEMBL: ENSMUSP00000104024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071780] [ENSMUST00000108387] [ENSMUST00000117252] [ENSMUST00000122040] [ENSMUST00000153452]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000071780
AA Change: N589I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000071685
Gene: ENSMUSG00000054102
AA Change: N589I

Domain	Start	End	E-Value	Type
PYRIN	5	87	1.07e-25	SMART
Pfam:NACHT	143	311	1e-32	PFAM
LRR	637	664	1.42e0	SMART
LRR	693	720	2.32e-1	SMART
LRR	722	749	3e0	SMART
LRR	750	777	1.12e-3	SMART
LRR	779	806	2.17e0	SMART
LRR	807	834	2.27e-4	SMART
LRR	836	863	2.02e2	SMART
LRR	864	891	6.24e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108387
AA Change: N589I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000104024
Gene: ENSMUSG00000054102
AA Change: N589I

Domain	Start	End	E-Value	Type
PYRIN	5	87	1.07e-25	SMART
Pfam:NACHT	143	311	7.7e-33	PFAM
LRR	631	658	1.42e0	SMART
LRR	692	719	1.42e0	SMART
LRR	748	775	2.32e-1	SMART
LRR	777	804	3e0	SMART
LRR	805	832	1.12e-3	SMART
LRR	834	861	2.17e0	SMART
LRR	862	889	2.27e-4	SMART
LRR	891	918	2.02e2	SMART
LRR	919	946	6.24e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117252
AA Change: N589I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000112398
Gene: ENSMUSG00000054102
AA Change: N589I

Domain	Start	End	E-Value	Type
PYRIN	5	87	1.07e-25	SMART
Pfam:NACHT	143	311	8.8e-34	PFAM
LRR	637	664	1.42e0	SMART
Blast:LRR	666	692	1e-5	BLAST
LRR	693	720	2.32e-1	SMART
LRR	722	749	3e0	SMART
LRR	750	777	1.12e-3	SMART
LRR	779	806	2.39e0	SMART
LRR	807	834	6.24e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122040
AA Change: N589I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113318
Gene: ENSMUSG00000054102
AA Change: N589I

Domain	Start	End	E-Value	Type
PYRIN	5	87	1.07e-25	SMART
Pfam:NACHT	143	311	1e-32	PFAM
LRR	637	664	1.42e0	SMART
LRR	693	720	2.32e-1	SMART
LRR	722	749	3e0	SMART
LRR	750	777	1.12e-3	SMART
LRR	779	806	2.17e0	SMART
LRR	807	834	2.27e-4	SMART
LRR	836	863	2.02e2	SMART
LRR	864	891	6.24e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153452
AA Change: N500I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000120498
Gene: ENSMUSG00000054102
AA Change: N500I

Domain	Start	End	E-Value	Type
Pfam:NACHT	54	222	6.9e-33	PFAM
LRR	542	569	1.42e0	SMART
LRR	603	630	1.42e0	SMART
Blast:LRR	632	657	1e-5	BLAST
LRR	659	686	2.32e-1	SMART
LRR	688	715	3e0	SMART
LRR	716	743	1.12e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025B11Rik	C	T	15: 77,558,989	V17I	unknown	Het
Acad8	T	A	9: 26,978,430	K323*	probably null	Het
Adam18	A	T	8: 24,647,808	C339S	probably damaging	Het
Anxa7	A	G	14: 20,460,195	F396L	probably damaging	Het
Ap2m1	T	A	16: 20,539,451	V73D	probably damaging	Het
Asic2	A	T	11: 80,971,514	I270N	probably damaging	Het
Atrn	T	G	2: 130,986,744	C1070G	probably damaging	Het
Bag6	A	G	17: 35,142,945	N517S	unknown	Het
Cavin1	A	C	11: 100,970,458	D3E	probably benign	Het
Cc2d2b	T	C	19: 40,791,307	L571P	unknown	Het
Ccbe1	A	T	18: 66,083,128	C175S	probably damaging	Het
Cd19	A	G	7: 126,414,823	L5P	unknown	Het
Cd46	A	G	1: 195,042,006	S362P	possibly damaging	Het
Celf5	A	G	10: 81,468,029	S198P	probably damaging	Het
Cep170b	A	G	12: 112,737,925	R706G	possibly damaging	Het
Chd3	G	T	11: 69,369,211	R61S	unknown	Het
Cpsf6	A	C	10: 117,361,822	W253G	unknown	Het
Cyp27a1	G	A	1: 74,737,348	G481D	probably damaging	Het
Ddr1	C	T	17: 35,691,147	D218N	possibly damaging	Het
Dhx34	A	T	7: 16,198,876	V1046D	probably damaging	Het
Dhx9	A	T	1: 153,465,677	D608E	probably benign	Het
Dnajc6	C	A	4: 101,639,372	A912E	probably damaging	Het
Ehmt1	T	C	2: 24,804,782	D1051G	probably damaging	Het
Fam217b	C	A	2: 178,421,203	A320E	probably benign	Het
Farsa	T	A	8: 84,864,060	I169N	probably benign	Het
Fbn2	A	G	18: 58,037,070	C2210R	probably damaging	Het
Fbxo3	T	A	2: 104,050,297	S251T	probably benign	Het
Fer1l6	C	T	15: 58,590,535	T813I	probably benign	Het
Ftl1-ps1	A	T	13: 74,406,995	E131V	probably damaging	Het
Gins3	T	A	8: 95,637,871	I83N	probably damaging	Het
Gja3	T	C	14: 57,035,893	T341A	probably benign	Het
Gja5	A	G	3: 97,050,858	Y77C	probably damaging	Het
Gm14085	C	A	2: 122,522,532	R453S	probably benign	Het
Gm5096	A	G	18: 87,757,466	D371G	possibly damaging	Het
Gm7247	A	G	14: 51,365,351	K48R	probably damaging	Het
Gsx2	C	A	5: 75,075,960	S67*	probably null	Het
H2-Q5	T	A	17: 35,397,113	L217Q		Het
Impg2	T	A	16: 56,267,104	C1095*	probably null	Het
Itga7	G	T	10: 128,940,932	W222L	probably damaging	Het
Kdm2b	T	A	5: 122,921,449	D530V	possibly damaging	Het
Klhdc8a	A	T	1: 132,302,606	D153V	probably damaging	Het
Lin28a	C	T	4: 134,006,308	G143S	probably damaging	Het
Memo1	A	G	17: 74,202,343	L227S	probably damaging	Het
Mettl27	T	A	5: 134,935,803	V138E	probably damaging	Het
Mov10	G	T	3: 104,801,012	L474I	probably damaging	Het
Nat10	T	C	2: 103,726,753	N852S	probably benign	Het
Nfkbie	T	C	17: 45,559,227	V166A	possibly damaging	Het
Nktr	T	C	9: 121,746,533	M369T	probably damaging	Het
Nrn1	G	A	13: 36,730,603	R8C	probably benign	Het
Nrsn1	A	G	13: 25,253,468	I159T	probably damaging	Het
Olfr132	C	T	17: 38,130,433	G253D	probably benign	Het
Olfr389	A	G	11: 73,776,677	S217P	possibly damaging	Het
Olfr485	A	T	7: 108,158,957	D305E	probably benign	Het
Olfr794	G	A	10: 129,570,715	G20D	probably benign	Het
Osbp	T	A	19: 11,978,667	D385E	probably benign	Het
Pan3	T	A	5: 147,526,992	N547K	probably damaging	Het
Pum1	C	A	4: 130,771,981	T1036K	probably damaging	Het
Rad54l2	C	A	9: 106,713,472	R485L	probably damaging	Het
Rps26	A	T	10: 128,625,218	F101I	unknown	Het
Sdsl	T	C	5: 120,460,637	N138S	probably benign	Het
Slc39a6	A	T	18: 24,584,027	H649Q	probably damaging	Het
Snip1	T	A	4: 125,071,480	F226Y	probably benign	Het
Srrd	T	C	5: 112,337,456	T334A	unknown	Het
St14	C	T	9: 31,100,152	D448N	possibly damaging	Het
Tmem270	T	A	5: 134,901,684	Q241L	probably benign	Het
Tmem55a	T	A	4: 14,892,464	D109E	probably damaging	Het
Tubb4b	T	C	2: 25,224,168	D41G	probably benign	Het
Uhrf1bp1l	A	T	10: 89,808,641	Q1181L	probably benign	Het
Usf3	T	C	16: 44,220,005	M1616T	possibly damaging	Het
Vmn2r95	A	T	17: 18,451,983	I733F	possibly damaging	Het
Zfp976	A	T	7: 42,613,260	C385*	probably null	Het

Other mutations in Nlrp9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Nlrp9a	APN	7	26557625	missense	probably benign	0.22
IGL00895:Nlrp9a	APN	7	26558678	missense	probably benign
IGL01081:Nlrp9a	APN	7	26558094	missense	possibly damaging	0.51
IGL01148:Nlrp9a	APN	7	26557581	missense	probably damaging	1.00
IGL01368:Nlrp9a	APN	7	26557874	missense	probably damaging	1.00
IGL01914:Nlrp9a	APN	7	26557264	missense	probably benign	0.01
IGL01952:Nlrp9a	APN	7	26558019	missense	probably benign	0.01
IGL02245:Nlrp9a	APN	7	26557893	missense	probably benign	0.02
IGL02449:Nlrp9a	APN	7	26564971	missense	probably benign	0.00
IGL02702:Nlrp9a	APN	7	26564956	missense	possibly damaging	0.67
IGL02944:Nlrp9a	APN	7	26558651	missense	probably benign	0.28
IGL03183:Nlrp9a	APN	7	26557457	missense	probably damaging	1.00
R0005:Nlrp9a	UTSW	7	26573788	splice site	probably benign
R0007:Nlrp9a	UTSW	7	26551090	intron	probably benign
R0007:Nlrp9a	UTSW	7	26551090	intron	probably benign
R0013:Nlrp9a	UTSW	7	26571225	splice site	probably null
R0086:Nlrp9a	UTSW	7	26558547	missense	probably damaging	0.98
R0659:Nlrp9a	UTSW	7	26557278	missense	probably damaging	1.00
R1126:Nlrp9a	UTSW	7	26560741	missense	probably benign	0.12
R1500:Nlrp9a	UTSW	7	26567891	missense	probably benign	0.01
R1585:Nlrp9a	UTSW	7	26558668	missense	probably benign	0.41
R1594:Nlrp9a	UTSW	7	26570507	nonsense	probably null
R1968:Nlrp9a	UTSW	7	26564941	missense	probably benign	0.23
R1989:Nlrp9a	UTSW	7	26573913	missense	probably benign	0.24
R2057:Nlrp9a	UTSW	7	26557362	missense	possibly damaging	0.55
R2058:Nlrp9a	UTSW	7	26557362	missense	possibly damaging	0.55
R2059:Nlrp9a	UTSW	7	26557362	missense	possibly damaging	0.55
R2188:Nlrp9a	UTSW	7	26564929	missense	probably damaging	1.00
R2318:Nlrp9a	UTSW	7	26573852	missense	probably damaging	0.98
R3110:Nlrp9a	UTSW	7	26557872	missense	probably benign	0.08
R3112:Nlrp9a	UTSW	7	26557872	missense	probably benign	0.08
R3237:Nlrp9a	UTSW	7	26571385	nonsense	probably null
R3545:Nlrp9a	UTSW	7	26557332	missense	probably benign	0.03
R3805:Nlrp9a	UTSW	7	26564852	nonsense	probably null
R4005:Nlrp9a	UTSW	7	26558550	missense	probably benign	0.02
R4057:Nlrp9a	UTSW	7	26570646	missense	probably benign	0.00
R4529:Nlrp9a	UTSW	7	26571407	missense	probably damaging	1.00
R4756:Nlrp9a	UTSW	7	26557441	missense	probably damaging	1.00
R4908:Nlrp9a	UTSW	7	26550944	missense	probably damaging	1.00
R4972:Nlrp9a	UTSW	7	26570539	missense	probably damaging	1.00
R4992:Nlrp9a	UTSW	7	26557386	missense	probably benign	0.00
R5042:Nlrp9a	UTSW	7	26571278	missense	probably damaging	1.00
R5224:Nlrp9a	UTSW	7	26557292	missense	probably benign	0.43
R5449:Nlrp9a	UTSW	7	26557829	missense	probably benign	0.04
R5644:Nlrp9a	UTSW	7	26558568	missense	possibly damaging	0.51
R5734:Nlrp9a	UTSW	7	26570640	missense	probably damaging	1.00
R5905:Nlrp9a	UTSW	7	26558337	missense	probably benign	0.02
R5978:Nlrp9a	UTSW	7	26557278	missense	probably damaging	1.00
R6028:Nlrp9a	UTSW	7	26558337	missense	probably benign	0.02
R6066:Nlrp9a	UTSW	7	26558085	missense	probably benign	0.00
R6082:Nlrp9a	UTSW	7	26567977	missense	probably benign	0.41
R6171:Nlrp9a	UTSW	7	26558763	missense	possibly damaging	0.71
R6352:Nlrp9a	UTSW	7	26557626	missense	probably damaging	1.00
R6490:Nlrp9a	UTSW	7	26550886	missense	probably damaging	1.00
R6540:Nlrp9a	UTSW	7	26557392	missense	possibly damaging	0.88
R7039:Nlrp9a	UTSW	7	26567942	missense	probably benign	0.03
R7151:Nlrp9a	UTSW	7	26557247	nonsense	probably null
R7173:Nlrp9a	UTSW	7	26558178	missense	probably benign	0.00
R7214:Nlrp9a	UTSW	7	26551038	missense	probably damaging	0.98
R7250:Nlrp9a	UTSW	7	26558718	missense	possibly damaging	0.78
R7293:Nlrp9a	UTSW	7	26571269	missense	probably damaging	1.00
R7492:Nlrp9a	UTSW	7	26557656	missense	probably damaging	0.99
R7586:Nlrp9a	UTSW	7	26557296	missense	possibly damaging	0.83
R7844:Nlrp9a	UTSW	7	26562581	missense	possibly damaging	0.82
R8073:Nlrp9a	UTSW	7	26560835	missense	probably damaging	0.98
R8136:Nlrp9a	UTSW	7	26557253	missense	probably benign	0.34
R8400:Nlrp9a	UTSW	7	26565006	missense	probably benign	0.02
R8415:Nlrp9a	UTSW	7	26557500	missense	probably benign
R8774:Nlrp9a	UTSW	7	26558559	missense	possibly damaging	0.95
R8774-TAIL:Nlrp9a	UTSW	7	26558559	missense	possibly damaging	0.95
R8882:Nlrp9a	UTSW	7	26558278	nonsense	probably null
R9023:Nlrp9a	UTSW	7	26573866	missense	possibly damaging	0.62
R9031:Nlrp9a	UTSW	7	26558273	missense	probably damaging	1.00
R9063:Nlrp9a	UTSW	7	26573866	missense	possibly damaging	0.62
R9090:Nlrp9a	UTSW	7	26562519	missense	probably benign
R9196:Nlrp9a	UTSW	7	26558733	missense	probably damaging	1.00
R9206:Nlrp9a	UTSW	7	26558231	missense	possibly damaging	0.91
R9265:Nlrp9a	UTSW	7	26558613	missense	possibly damaging	0.67
R9271:Nlrp9a	UTSW	7	26562519	missense	probably benign
R9384:Nlrp9a	UTSW	7	26558733	missense	probably damaging	1.00
R9402:Nlrp9a	UTSW	7	26570605	missense	possibly damaging	0.81
R9424:Nlrp9a	UTSW	7	26560753	missense	probably benign	0.13
R9620:Nlrp9a	UTSW	7	26551044	missense	probably damaging	1.00
R9660:Nlrp9a	UTSW	7	26557490	missense	probably damaging	1.00
R9696:Nlrp9a	UTSW	7	26575608	missense	unknown
R9728:Nlrp9a	UTSW	7	26557490	missense	probably damaging	1.00
R9744:Nlrp9a	UTSW	7	26567841	missense	probably benign	0.07
R9794:Nlrp9a	UTSW	7	26564877	missense	probably benign	0.03
Z1176:Nlrp9a	UTSW	7	26558229	missense	probably damaging	1.00
Z1177:Nlrp9a	UTSW	7	26557456	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGCTGTATATCATCCAAGGAG -3'
(R):5'- TGGATACAGCATGGACACATC -3'

Sequencing Primer
(F):5'- CTGTATATCATCCAAGGAGGTAAGAC -3'
(R):5'- GCATGGACACATCTATAAAATATTGC -3'

Posted On

2019-06-26