Mutagenetix > Incidental Mutations

Incidental Mutation 'R6454:Nlrp9c'

519474

Institutional Source

Beutler Lab

Gene Symbol

Nlrp9c

Ensembl Gene

ENSMUSG00000040614

Gene Name

NLR family, pyrin domain containing 9C

Synonyms

Nalp9c, Nalp-zeta

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26322473-26403700 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26385774 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 127 (R127C)

Ref Sequence

ENSEMBL: ENSMUSP00000083106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041845] [ENSMUST00000085944]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041845
AA Change: R127C

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036041
Gene: ENSMUSG00000040614
AA Change: R127C

Domain	Start	End	E-Value	Type
PYRIN	5	87	7.64e-22	SMART
Pfam:NACHT	143	310	5.2e-31	PFAM
LRR	637	664	4.36e1	SMART
Blast:LRR	666	691	3e-6	BLAST
LRR	693	720	1.02e0	SMART
LRR	722	749	3e0	SMART
LRR	750	777	6.88e-4	SMART
LRR	779	806	5.06e0	SMART
LRR	807	834	1.22e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085944
AA Change: R127C

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: R127C

Domain	Start	End	E-Value	Type
PYRIN	5	87	7.64e-22	SMART
Pfam:NACHT	143	310	2.8e-31	PFAM
LRR	631	658	7.49e0	SMART
LRR	692	719	4.36e1	SMART
Blast:LRR	721	746	8e-6	BLAST
LRR	748	775	1.02e0	SMART
LRR	777	804	3e0	SMART
LRR	805	832	6.88e-4	SMART
LRR	834	861	2.17e0	SMART
LRR	862	889	2.12e-4	SMART
LRR	919	946	1.22e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160948

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.1%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	G	6: 96,165,628	H145P	possibly damaging	Het
Arid2	C	T	15: 96,372,413	T1469I	probably benign	Het
Atp12a	A	G	14: 56,370,833	T93A	probably benign	Het
Atp8a2	A	T	14: 60,008,499		probably null	Het
Casz1	A	T	4: 148,951,495	I1405F	probably damaging	Het
Chrnb3	T	C	8: 27,393,375	S100P	probably damaging	Het
Creld2	T	A	15: 88,823,071	C197*	probably null	Het
Csmd1	A	T	8: 15,921,150	F3055Y	probably damaging	Het
Ddx58	T	A	4: 40,220,456	I476F	probably damaging	Het
Dnah11	T	A	12: 117,916,855	E3843D	probably benign	Het
Dnah14	T	C	1: 181,783,705	S3799P	probably damaging	Het
Dpp9	A	T	17: 56,206,808	L102Q	probably damaging	Het
Eipr1	T	G	12: 28,864,762	I305S	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Faf1	G	T	4: 109,842,334	A359S	probably benign	Het
Fam13b	A	G	18: 34,457,662		probably null	Het
Fam46b	A	G	4: 133,480,409	D37G	probably damaging	Het
Gm14496	A	T	2: 181,996,222	N363I	probably damaging	Het
Gm15922	C	G	7: 3,737,320	A301P	probably damaging	Het
Gm5346	G	T	8: 43,626,808	N126K	probably damaging	Het
Grm8	T	G	6: 27,363,776	H580P	possibly damaging	Het
Itih5	T	C	2: 10,240,668	F523L	probably benign	Het
Klhl1	A	T	14: 96,280,091	M383K	possibly damaging	Het
Lgi4	A	T	7: 31,060,132	T38S	probably benign	Het
Myh13	T	A	11: 67,350,365	M856K	probably benign	Het
Myo7a	C	T	7: 98,073,167	V1184M	probably benign	Het
Notch2	T	C	3: 98,137,406	I1548T	possibly damaging	Het
Nphs2	T	A	1: 156,318,767	H179Q	probably damaging	Het
Nup153	T	C	13: 46,709,660		probably null	Het
Odf2l	C	A	3: 145,153,420	Q517K	possibly damaging	Het
Olfr1013	A	G	2: 85,770,373	K191E	probably benign	Het
Olfr1254	T	C	2: 89,789,178	Y58C	probably damaging	Het
Olfr1448	T	A	19: 12,920,031	N93Y	probably benign	Het
Olfr149	A	G	9: 39,701,834	*312Q	probably null	Het
Omd	A	T	13: 49,589,869	I132F	probably damaging	Het
Otog	A	G	7: 46,305,817	N544D	probably damaging	Het
Ovol3	A	G	7: 30,235,375	Y29H	probably damaging	Het
Papolb	T	C	5: 142,529,598	K97E	possibly damaging	Het
Pcdhb19	G	T	18: 37,499,269	V706L	probably benign	Het
Plekhm1	G	A	11: 103,377,382	R588C	probably damaging	Het
Pnpla6	G	T	8: 3,537,986	V1062L	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,827	F127L	probably damaging	Het
Rnf5	A	C	17: 34,602,309	C47W	probably damaging	Het
Sbno1	A	T	5: 124,400,847	M517K	probably damaging	Het
Slc44a5	C	T	3: 154,243,159	T188M	probably benign	Het
Smco1	A	G	16: 32,273,223	T40A	possibly damaging	Het
Speer4f2	A	T	5: 17,374,433	I77F	probably damaging	Het
Spem2	A	G	11: 69,817,428	L237P	probably damaging	Het
Spg7	A	G	8: 123,079,423	K291E	possibly damaging	Het
Tiam2	A	T	17: 3,438,663	T749S	probably benign	Het
Tln1	T	C	4: 43,533,866	K2291E	probably damaging	Het
Tm6sf1	A	G	7: 81,876,053	M294V	probably damaging	Het
Tmem35b	T	C	4: 127,129,018	*138R	probably null	Het
Tpst1	A	G	5: 130,102,051	K121E	possibly damaging	Het
Tsc22d2	T	A	3: 58,415,840	V51D	possibly damaging	Het
Tshr	C	A	12: 91,538,549	Q754K	probably benign	Het
Ttc38	T	A	15: 85,838,822	M157K	probably damaging	Het
Ube2g2	T	G	10: 77,634,746		probably benign	Het
Ugt2b37	T	G	5: 87,240,977	D459A	probably damaging	Het
Usp35	A	T	7: 97,311,560	N886K	probably damaging	Het
Usp35	A	T	7: 97,311,644	Y858*	probably null	Het
Wdr33	T	C	18: 31,829,975	V125A	possibly damaging	Het
Xpnpep1	G	A	19: 52,997,879	T506I	possibly damaging	Het

Other mutations in Nlrp9c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Nlrp9c	APN	7	26384588	missense	probably benign	0.00
IGL00814:Nlrp9c	APN	7	26384750	missense	probably benign	0.23
IGL00919:Nlrp9c	APN	7	26394056	nonsense	probably null
IGL01762:Nlrp9c	APN	7	26385425	missense	probably damaging	1.00
IGL01928:Nlrp9c	APN	7	26375422	splice site	probably benign
IGL02008:Nlrp9c	APN	7	26385151	missense	probably benign	0.16
IGL02389:Nlrp9c	APN	7	26394207	missense	probably benign
IGL02535:Nlrp9c	APN	7	26372097	missense	probably damaging	1.00
IGL02685:Nlrp9c	APN	7	26385557	missense	probably damaging	0.98
IGL02904:Nlrp9c	APN	7	26375290	missense	probably damaging	1.00
IGL02935:Nlrp9c	APN	7	26385276	missense	probably benign	0.00
IGL03006:Nlrp9c	APN	7	26372082	missense	probably damaging	0.98
IGL03140:Nlrp9c	APN	7	26380489	missense	probably benign	0.30
IGL03201:Nlrp9c	APN	7	26385108	missense	probably benign	0.00
IGL03243:Nlrp9c	APN	7	26365032	missense	probably damaging	0.99
IGL03054:Nlrp9c	UTSW	7	26382276	splice site	probably null
K7894:Nlrp9c	UTSW	7	26384898	missense	possibly damaging	0.94
R0018:Nlrp9c	UTSW	7	26371998	missense	possibly damaging	0.89
R0018:Nlrp9c	UTSW	7	26371998	missense	possibly damaging	0.89
R0238:Nlrp9c	UTSW	7	26378012	missense	possibly damaging	0.90
R0238:Nlrp9c	UTSW	7	26378012	missense	possibly damaging	0.90
R0335:Nlrp9c	UTSW	7	26394136	missense	possibly damaging	0.92
R0391:Nlrp9c	UTSW	7	26371476	splice site	probably benign
R0433:Nlrp9c	UTSW	7	26385819	missense	probably benign	0.20
R1035:Nlrp9c	UTSW	7	26371277	splice site	probably benign
R1118:Nlrp9c	UTSW	7	26384437	missense	probably benign	0.01
R1119:Nlrp9c	UTSW	7	26384437	missense	probably benign	0.01
R1173:Nlrp9c	UTSW	7	26380435	missense	probably damaging	1.00
R1519:Nlrp9c	UTSW	7	26378101	missense	possibly damaging	0.88
R1528:Nlrp9c	UTSW	7	26382298	missense	probably damaging	0.99
R1616:Nlrp9c	UTSW	7	26384437	missense	probably benign	0.01
R1774:Nlrp9c	UTSW	7	26394118	missense	probably benign	0.05
R1789:Nlrp9c	UTSW	7	26380490	missense	probably benign	0.00
R1869:Nlrp9c	UTSW	7	26384820	nonsense	probably null
R1870:Nlrp9c	UTSW	7	26384820	nonsense	probably null
R1920:Nlrp9c	UTSW	7	26384894	missense	probably damaging	1.00
R1987:Nlrp9c	UTSW	7	26378056	missense	probably benign	0.31
R2022:Nlrp9c	UTSW	7	26384796	missense	probably damaging	1.00
R2309:Nlrp9c	UTSW	7	26378087	missense	probably damaging	1.00
R2327:Nlrp9c	UTSW	7	26375322	missense	probably damaging	1.00
R3405:Nlrp9c	UTSW	7	26385282	missense	probably benign	0.01
R3548:Nlrp9c	UTSW	7	26371451	missense	probably damaging	1.00
R3846:Nlrp9c	UTSW	7	26382276	splice site	probably null
R4179:Nlrp9c	UTSW	7	26384661	missense	possibly damaging	0.74
R4460:Nlrp9c	UTSW	7	26378098	missense	probably damaging	1.00
R4669:Nlrp9c	UTSW	7	26375368	missense	possibly damaging	0.90
R4708:Nlrp9c	UTSW	7	26384840	missense	probably benign	0.07
R4810:Nlrp9c	UTSW	7	26378177	splice site	probably null
R4824:Nlrp9c	UTSW	7	26380564	missense	possibly damaging	0.49
R4915:Nlrp9c	UTSW	7	26384460	missense	probably benign	0.34
R4996:Nlrp9c	UTSW	7	26385747	missense	possibly damaging	0.92
R5468:Nlrp9c	UTSW	7	26365000	missense	probably benign	0.00
R5525:Nlrp9c	UTSW	7	26384501	missense	probably damaging	1.00
R5526:Nlrp9c	UTSW	7	26382366	missense	possibly damaging	0.95
R6020:Nlrp9c	UTSW	7	26384725	missense	probably benign	0.08
R6175:Nlrp9c	UTSW	7	26378001	splice site	probably null
R6493:Nlrp9c	UTSW	7	26382387	missense	probably damaging	1.00
R6649:Nlrp9c	UTSW	7	26371322	missense	probably damaging	1.00
R6653:Nlrp9c	UTSW	7	26371322	missense	probably damaging	1.00
R6739:Nlrp9c	UTSW	7	26385425	missense	probably damaging	0.99
R6883:Nlrp9c	UTSW	7	26378131	missense	probably benign	0.18
R7097:Nlrp9c	UTSW	7	26385621	missense	probably damaging	1.00
R7122:Nlrp9c	UTSW	7	26385621	missense	probably damaging	1.00
R7174:Nlrp9c	UTSW	7	26385297	missense	probably benign	0.03
R7365:Nlrp9c	UTSW	7	26371397	missense	possibly damaging	0.93
R7378:Nlrp9c	UTSW	7	26365015	missense	probably benign	0.14
R7427:Nlrp9c	UTSW	7	26371435	missense	probably benign	0.00
R7450:Nlrp9c	UTSW	7	26364939	missense	probably benign	0.45
X0065:Nlrp9c	UTSW	7	26380430	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTGTGGTATTGTTAAGTGAGAAGACAG -3'
(R):5'- AACCCATGGTCATGCAGAAG -3'

Sequencing Primer
(F):5'- GAGAAGAAGAAAACATACTGAAACCG -3'
(R):5'- CCCATGGTCATGCAGAAGTATAG -3'

Posted On

2018-05-24