Mutagenetix > Incidental Mutation

Incidental Mutation 'R5526:Nlrp9c'

431851

Institutional Source

Beutler Lab

Gene Symbol

Nlrp9c

Ensembl Gene

ENSMUSG00000040614

Gene Name

NLR family, pyrin domain containing 9C

Synonyms

Nalp9c, Nalp-zeta

MMRRC Submission

043084-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5526 (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 26382366 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 645 (N645I)

Ref Sequence

ENSEMBL: ENSMUSP00000083106 (fasta)

Gene Model

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

AlphaFold

Q66X01

Predicted Effect

probably benign
Transcript: ENSMUST00000041845

SMART Domains

Protein: ENSMUSP00000036041
Gene: ENSMUSG00000040614

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: N645I

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: N645I

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: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,972,125	V486A	possibly damaging	Het
Abca12	A	T	1: 71,292,446	M1315K	probably benign	Het
Abcc4	C	T	14: 118,631,037	V168I	probably benign	Het
Add3	T	A	19: 53,226,607	L71Q	probably damaging	Het
Agbl5	G	A	5: 30,893,903		probably null	Het
Angpt1	A	G	15: 42,512,341	L173P	probably damaging	Het
BC067074	T	C	13: 113,367,893	V1852A	probably benign	Het
Crls1	T	A	2: 132,861,245	M205K	possibly damaging	Het
Dhtkd1	A	T	2: 5,911,851	N671K	probably damaging	Het
Dmbt1	A	T	7: 131,041,190	D246V	probably damaging	Het
Dolk	G	A	2: 30,285,808	A75V	probably damaging	Het
Dtna	T	A	18: 23,646,230	V623E	probably damaging	Het
Elavl3	T	C	9: 22,036,326	T106A	probably benign	Het
Ergic1	T	C	17: 26,624,678	C41R	probably damaging	Het
Fat2	T	A	11: 55,269,361	I3309F	possibly damaging	Het
Fbn1	C	A	2: 125,365,639	R978L	possibly damaging	Het
Fzd6	A	T	15: 39,031,164	S242C	possibly damaging	Het
Galntl6	T	A	8: 58,472,970	H87L	probably benign	Het
Gatad2a	T	C	8: 69,935,941	E32G	probably damaging	Het
Gemin6	T	G	17: 80,227,749	V46G	probably damaging	Het
Gm11541	G	T	11: 94,704,118	H41Q	unknown	Het
Has3	A	G	8: 106,873,947	T14A	probably damaging	Het
Kmt2b	A	G	7: 30,580,444	L1377P	probably damaging	Het
Lcorl	T	C	5: 45,733,727	N428S	probably benign	Het
Lipo5	A	T	19: 33,467,884	V95D	unknown	Het
Lrp1	A	T	10: 127,555,724	V2942D	probably benign	Het
Map1a	T	C	2: 121,305,662	S2082P	probably damaging	Het
Mast4	T	C	13: 102,754,215	S852G	possibly damaging	Het
Mlh3	A	T	12: 85,269,373	L13*	probably null	Het
Ncam2	C	T	16: 81,434,878	R77*	probably null	Het
Olfr109	T	A	17: 37,467,112	L302Q	unknown	Het
Olfr1126	T	C	2: 87,457,765	I200T	probably benign	Het
Olfr128	T	A	17: 37,924,492	*309K	probably null	Het
Olfr857	C	A	9: 19,713,698	Y290*	probably null	Het
Olfr965	A	T	9: 39,719,596	Y123F	possibly damaging	Het
Pex12	A	G	11: 83,296,264	V286A	possibly damaging	Het
Phax	C	T	18: 56,584,310	T275I	probably damaging	Het
Phf21b	A	G	15: 84,791,805	V335A	probably benign	Het
Psg18	A	T	7: 18,349,348	L173H	probably damaging	Het
Rab3ip	T	C	10: 116,918,929	T209A	possibly damaging	Het
Ralgapb	T	C	2: 158,432,785	V202A	probably damaging	Het
Rpn2	T	C	2: 157,323,267	L611P	probably damaging	Het
Runx2	T	G	17: 44,724,862	T148P	probably damaging	Het
Sbpl	C	A	17: 23,954,649	D50Y	probably damaging	Het
Scn5a	G	A	9: 119,521,171	P879L	probably damaging	Het
Sfn	T	C	4: 133,601,604	R56G	probably damaging	Het
Tas2r138	C	T	6: 40,612,980	A111T	probably benign	Het
Tasp1	A	T	2: 140,008,789	S105T	probably damaging	Het
Tmem225	T	G	9: 40,150,706	H205Q	possibly damaging	Het
Tmprss7	A	G	16: 45,660,904	S640P	probably damaging	Het
Utp4	G	A	8: 106,917,633	A535T	possibly damaging	Het
Vmn1r203	A	T	13: 22,524,103	D18V	probably benign	Het
Vmn2r58	A	G	7: 41,872,645	L9P	probably benign	Het
Zcchc2	T	A	1: 106,030,254	C420*	probably null	Het
Zfp804a	A	G	2: 82,258,590	D921G	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
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
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'- TACAACATAGTCAATACCTGCCTAG -3'
(R):5'- AGGGTAACTGCCAGTTTTGAG -3'

Sequencing Primer
(F):5'- TGCCTAGTTTTATTTTAGTGCACAC -3'
(R):5'- AACTGCCAGTTTTGAGAAAGGGTTG -3'

Posted On

2016-10-05