Mutagenetix > Incidental Mutation

Incidental Mutation 'R3110:Nlrp9a'

263824

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

040584-MU

Accession Numbers

Essential gene?

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

Stock #

R3110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26535023-26575615 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26557872 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 305 (V305A)

Ref Sequence

ENSEMBL: ENSMUSP00000113318 (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: V305A

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000071685
Gene: ENSMUSG00000054102
AA Change: V305A

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: V305A

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000104024
Gene: ENSMUSG00000054102
AA Change: V305A

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: V305A

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

SMART Domains

Protein: ENSMUSP00000112398
Gene: ENSMUSG00000054102
AA Change: V305A

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: V305A

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113318
Gene: ENSMUSG00000054102
AA Change: V305A

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

noncoding transcript
Transcript: ENSMUST00000143149

Predicted Effect

probably benign
Transcript: ENSMUST00000153452
AA Change: V216A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000120498
Gene: ENSMUSG00000054102
AA Change: V216A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	G	2: 111,228,054	L131F	probably damaging	Het
Abca6	T	A	11: 110,178,829	K1554*	probably null	Het
Acads	T	C	5: 115,117,698	H26R	probably benign	Het
Acer1	G	A	17: 56,958,406	T141I	probably damaging	Het
Adam15	C	G	3: 89,347,457	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,477,505	V97A	possibly damaging	Het
Anpep	T	C	7: 79,841,972	T94A	probably benign	Het
Atp1a3	T	C	7: 24,994,694	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,461,551	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,075,093	W62*	probably null	Het
Ccdc141	C	T	2: 77,039,486	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470	I278K	possibly damaging	Het
Cdc7	T	G	5: 106,974,698		probably null	Het
Cpb1	C	T	3: 20,265,357	V188M	probably damaging	Het
Dock5	A	G	14: 67,857,922	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,058,972	V95A	probably damaging	Het
Dvl1	T	A	4: 155,853,666	D90E	probably damaging	Het
Ebf1	T	A	11: 44,643,398		probably benign	Het
Fam135b	T	C	15: 71,464,030	I438M	probably benign	Het
Fam57a	A	G	11: 76,202,231	D33G	probably benign	Het
Fpr1	A	T	17: 17,876,635	M364K	probably benign	Het
Gm14139	C	G	2: 150,192,221	P185R	probably damaging	Het
Gm7030	T	C	17: 36,129,146	Y32C	probably damaging	Het
Gm9932	A	T	5: 100,198,935		unknown	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Gpx7	C	A	4: 108,403,273	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,347		probably null	Het
Grn	A	G	11: 102,433,243	T53A	probably benign	Het
Hist1h1e	T	C	13: 23,621,846		probably benign	Het
Hmgxb3	T	C	18: 61,147,382	N683S	probably damaging	Het
Iigp1	T	C	18: 60,390,911	I367T	probably benign	Het
Itfg2	T	C	6: 128,411,669	E285G	probably damaging	Het
Itgav	T	A	2: 83,792,571	C662*	probably null	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Jmjd1c	T	A	10: 67,240,084		probably benign	Het
Lipe	T	C	7: 25,398,423	T32A	probably benign	Het
Lrrk2	A	G	15: 91,814,695	Y2475C	probably benign	Het
Mcc	T	C	18: 44,449,263	D607G	probably damaging	Het
Mip	T	A	10: 128,226,006	L42*	probably null	Het
Mlc1	A	T	15: 88,965,996	D192E	probably benign	Het
Muc2	T	C	7: 141,745,488		probably benign	Het
Mybl1	T	C	1: 9,681,870	D260G	probably damaging	Het
Ncln	C	T	10: 81,487,685	V51I	probably benign	Het
Nodal	G	A	10: 61,424,497	R309Q	possibly damaging	Het
Olfr1338	A	T	4: 118,754,224	F105I	probably damaging	Het
Olfr294	T	C	7: 86,615,676	Y323C	probably benign	Het
Olfr536	A	G	7: 140,503,919	I180T	probably damaging	Het
Olr1	T	C	6: 129,499,918	N128S	possibly damaging	Het
Orc1	T	A	4: 108,604,560	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,855,129	I300F	probably damaging	Het
Phactr3	T	A	2: 178,279,017	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083	T612A	probably benign	Het
Plch1	T	A	3: 63,709,531	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,164,147		probably benign	Het
Ppp1r12b	T	A	1: 134,872,832	T547S	probably damaging	Het
Prkcb	T	A	7: 122,516,856	M186K	probably damaging	Het
Prpf3	A	T	3: 95,849,800		probably benign	Het
Psg23	T	C	7: 18,610,444	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,381,131	L15P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Scrib	A	T	15: 76,069,374	I5N	probably damaging	Het
Speg	C	T	1: 75,422,682	Q2005*	probably null	Het
Sppl3	A	T	5: 115,074,864	S51C	possibly damaging	Het
Sspo	A	G	6: 48,457,600	T1009A	probably damaging	Het
Syce1l	A	G	8: 113,654,947	Q164R	probably benign	Het
Sympk	T	C	7: 19,034,484	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,868,024	I6K	unknown	Het
Tas2r120	A	T	6: 132,657,768	H271L	probably damaging	Het
Tnn	T	A	1: 160,116,286	T986S	possibly damaging	Het
Trim5	T	C	7: 104,279,638	H32R	probably damaging	Het
Ttc13	A	G	8: 124,683,834	I360T	possibly damaging	Het
Uaca	A	G	9: 60,871,499	E1054G	probably damaging	Het
Usp16	T	A	16: 87,471,848		probably null	Het
Wee1	T	A	7: 110,130,836	S382R	probably damaging	Het
Wnt11	T	C	7: 98,846,564	S92P	probably damaging	Het
Zfp786	A	G	6: 47,820,226	C593R	probably damaging	Het
Zfp879	T	G	11: 50,833,162	I283L	possibly damaging	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
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
R7226:Nlrp9a	UTSW	7	26558724	missense	probably benign	0.02
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'- GCTGCCAATACAAATTGTCTTGAG -3'
(R):5'- ACGGGCCCTGTTCTGTTTAG -3'

Sequencing Primer
(F):5'- ACAAATTGTCTTGAGTAGTTTGCTAC -3'
(R):5'- CCTGGCATATGTTGATTTAAATGCGC -3'

Posted On

2015-02-05