Mutagenetix > Incidental Mutation

Incidental Mutation 'R2327:Nlrp9c'

245691

Institutional Source

Beutler Lab

Gene Symbol

Nlrp9c

Ensembl Gene

ENSMUSG00000040614

Gene Name

NLR family, pyrin domain containing 9C

Synonyms

Nalp9c, Nalp-zeta

MMRRC Submission

040318-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2327 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26322473-26403700 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26375322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 816 (N816I)

Ref Sequence

ENSEMBL: ENSMUSP00000083106 (fasta)

Gene Model

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

AlphaFold

Q66X01

Predicted Effect

probably damaging
Transcript: ENSMUST00000041845
AA Change: N761I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036041
Gene: ENSMUSG00000040614
AA Change: N761I

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

probably damaging
Transcript: ENSMUST00000085944
AA Change: N816I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: N816I

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: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	T	14: 63,971,120		probably null	Het
Agbl4	T	G	4: 111,526,601	S218A	probably benign	Het
Apol11b	T	C	15: 77,637,953	E48G	probably damaging	Het
Atp4a	T	A	7: 30,720,241	N676K	probably benign	Het
Capn5	T	A	7: 98,126,367	S456C	probably benign	Het
Ccar1	T	C	10: 62,764,382	Y590C	probably damaging	Het
Ccdc188	G	T	16: 18,219,206	G283W	probably damaging	Het
Cd163l1	A	T	7: 140,223,977	N363Y	possibly damaging	Het
Cd69	A	G	6: 129,271,388	V45A	probably damaging	Het
Col3a1	G	T	1: 45,338,611		probably benign	Het
Cyb561a3	A	T	19: 10,586,802	T169S	probably benign	Het
Cyp2c39	A	T	19: 39,538,953	I248L	probably benign	Het
Cyp2j13	T	C	4: 96,059,107	T236A	possibly damaging	Het
Efs	A	G	14: 54,917,504	V426A	probably benign	Het
Eme2	A	G	17: 24,894,183	L136S	probably damaging	Het
Fastkd1	T	A	2: 69,705,528	K312*	probably null	Het
Fbxl12	A	G	9: 20,642,234	L19P	probably damaging	Het
Flg2	T	A	3: 93,203,606	Y980*	probably null	Het
Fscn2	T	A	11: 120,366,701	I296N	probably damaging	Het
Gabrg3	A	G	7: 56,735,087	V242A	probably benign	Het
Galk2	A	G	2: 125,975,395	H368R	probably damaging	Het
Gm10184	C	A	17: 89,910,269	R16S	probably benign	Het
Gm12695	C	T	4: 96,769,656	S92N	probably benign	Het
Gpalpp1	A	T	14: 76,098,591	S196T	probably benign	Het
Gpld1	A	T	13: 24,984,821	M773L	probably benign	Het
Haus8	A	G	8: 71,255,645		probably null	Het
Hirip3	A	G	7: 126,862,866	R19G	probably damaging	Het
Inpp4a	A	G	1: 37,366,166	T92A	probably damaging	Het
Irgm2	A	G	11: 58,220,392	D303G	probably damaging	Het
Krtap5-2	T	G	7: 142,175,011	S311R	unknown	Het
Krtdap	T	A	7: 30,789,760		probably null	Het
Lce1g	G	T	3: 92,750,833	S56Y	unknown	Het
Lrrn1	G	A	6: 107,568,833	V531I	probably benign	Het
Mctp2	T	C	7: 72,211,610	E429G	probably damaging	Het
Mrgpra2b	T	G	7: 47,464,045	D287A	probably damaging	Het
Mterf3	T	C	13: 66,928,194	T150A	probably damaging	Het
Mtus2	A	G	5: 148,077,915	N506S	probably benign	Het
Myh15	G	T	16: 49,142,950	V1085L	probably benign	Het
Myo9a	A	G	9: 59,779,765	N51S	probably benign	Het
Nlrc3	A	T	16: 3,953,440	L196Q	probably damaging	Het
Nsun2	T	C	13: 69,619,581	V218A	probably benign	Het
Nt5dc1	T	C	10: 34,313,677	E339G	possibly damaging	Het
Olfr1062	A	T	2: 86,422,821	L285*	probably null	Het
Olfr1338	C	T	4: 118,754,134	V135I	probably benign	Het
Olfr623	A	G	7: 103,660,572	V226A	probably damaging	Het
Pik3ap1	A	G	19: 41,296,389	I619T	probably damaging	Het
Plk1	A	G	7: 122,159,895	D118G	probably benign	Het
Ppat	T	C	5: 76,922,467	D168G	possibly damaging	Het
Preb	T	C	5: 30,958,505	E198G	probably damaging	Het
Psg21	T	C	7: 18,652,453	T203A	possibly damaging	Het
Rbm17	A	G	2: 11,598,131	V54A	probably damaging	Het
Rgma	T	A	7: 73,417,826	D276E	probably damaging	Het
Ric8a	T	C	7: 140,859,558	L77P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Scarf1	A	C	11: 75,526,028	E765D	probably damaging	Het
Sec14l4	G	A	11: 4,040,041	M113I	probably benign	Het
Senp1	C	T	15: 98,082,284	C60Y	probably damaging	Het
Slc22a21	T	A	11: 53,951,304	K549N	probably benign	Het
Slc39a10	T	C	1: 46,835,996	S49G	probably damaging	Het
Spata13	T	C	14: 60,709,555	M684T	probably damaging	Het
Spns1	T	C	7: 126,370,786	T481A	probably damaging	Het
Stag1	A	G	9: 100,786,613	Y198C	possibly damaging	Het
Tgfbr1	T	A	4: 47,402,833	V210E	probably damaging	Het
Tnc	C	T	4: 63,975,238	E1604K	possibly damaging	Het
Tspan31	T	C	10: 127,068,496	D143G	probably benign	Het
Tspan5	T	A	3: 138,898,142	Y131*	probably null	Het
Ttc21a	A	G	9: 119,966,123	D1070G	probably damaging	Het
Vmn2r26	C	T	6: 124,039,749	P391S	probably benign	Het
Vmn2r72	A	G	7: 85,738,256	I700T	probably damaging	Het
Vps13c	A	C	9: 67,913,820	N1204T	probably damaging	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	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
holy_grail	UTSW	7	26382412	missense	probably benign
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
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
R6454:Nlrp9c	UTSW	7	26385774	missense	possibly damaging	0.91
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
R7999:Nlrp9c	UTSW	7	26385489	missense	possibly damaging	0.94
R8036:Nlrp9c	UTSW	7	26371439	missense	possibly damaging	0.49
R8056:Nlrp9c	UTSW	7	26385687	missense	probably damaging	1.00
R8249:Nlrp9c	UTSW	7	26375353	nonsense	probably null
R8729:Nlrp9c	UTSW	7	26372003	missense	probably benign	0.12
R9012:Nlrp9c	UTSW	7	26375308	missense	probably benign	0.18
R9104:Nlrp9c	UTSW	7	26382412	missense	probably benign
R9106:Nlrp9c	UTSW	7	26382412	missense	probably benign
R9129:Nlrp9c	UTSW	7	26378003	critical splice donor site	probably null
R9519:Nlrp9c	UTSW	7	26385877	missense	possibly damaging	0.91
RF020:Nlrp9c	UTSW	7	26385224	missense	probably benign
X0065:Nlrp9c	UTSW	7	26380430	missense	probably damaging	0.99
Z1177:Nlrp9c	UTSW	7	26382348	missense	probably benign	0.28
Z1177:Nlrp9c	UTSW	7	26384775	missense	probably damaging	1.00
Z1177:Nlrp9c	UTSW	7	26384825	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- AAGTGACGATGACATTCGGAC -3'
(R):5'- GCAAGAGTGTTTAGCTATCTCAC -3'

Sequencing Primer
(F):5'- GACGATGACATTCGGACAATGCTATC -3'
(R):5'- GAGTGTTTAGCTATCTCACCAGAC -3'

Posted On

2014-10-30