Mutagenetix > Incidental Mutations

Incidental Mutation 'R7122:Nlrp9c'

552074

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 #

R7122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26322473-26403700 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26385621 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 178 (Y178H)

Ref Sequence

ENSEMBL: ENSMUSP00000083106 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000041845
AA Change: Y178H

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

SMART Domains

Protein: ENSMUSP00000036041
Gene: ENSMUSG00000040614
AA Change: Y178H

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: Y178H

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

SMART Domains

Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: Y178H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	T	A	13: 4,511,276	E126V	probably benign	Het
Alg3	A	T	16: 20,607,852	L213H	probably damaging	Het
Atp1a4	T	A	1: 172,231,936	Y863F	possibly damaging	Het
Atp6v0e	A	G	17: 26,695,416	T72A	probably benign	Het
Aup1	A	G	6: 83,055,142	T97A	probably benign	Het
Bcl6	T	C	16: 23,972,902	D234G	probably damaging	Het
Cdc42bpa	T	C	1: 180,065,018	L249P	probably damaging	Het
Celsr3	A	G	9: 108,828,567	K750E	possibly damaging	Het
Ces1g	C	A	8: 93,317,037	G425C	possibly damaging	Het
Chl1	T	C	6: 103,706,448	L745P	probably damaging	Het
Csmd2	G	A	4: 128,449,227	V1471M		Het
Dnah12	G	A	14: 26,778,912		probably null	Het
E330017A01Rik	C	A	16: 58,637,777	A54S	probably benign	Het
E4f1	G	A	17: 24,444,834	Q569*	probably null	Het
Fbxw24	A	T	9: 109,601,260	C439S	probably benign	Het
Gm11639	A	T	11: 105,008,961	I4350F	possibly damaging	Het
Gmip	C	T	8: 69,817,802	P721S	probably benign	Het
Grip1	A	G	10: 120,035,374	I669V	possibly damaging	Het
Gsn	A	T	2: 35,295,049	K339*	probably null	Het
Herc1	G	T	9: 66,399,774	A959S	possibly damaging	Het
Hic1	A	G	11: 75,169,230	V97A	probably benign	Het
Il11ra1	A	G	4: 41,766,189	Y242C	probably damaging	Het
Iqsec3	A	C	6: 121,473,358	V69G	unknown	Het
Jak3	T	A	8: 71,685,957	M933K	probably damaging	Het
Kbtbd7	G	A	14: 79,428,317	V530I	probably damaging	Het
Kif22	G	A	7: 127,032,978	R345C	probably benign	Het
Klhl7	G	A	5: 24,138,435	E250K	probably damaging	Het
Klk1b4	A	G	7: 44,211,107	H183R	probably damaging	Het
Lhfpl4	C	T	6: 113,176,671	V140I	probably benign	Het
Lhx5	T	A	5: 120,436,345	M238K	probably benign	Het
Lin28b	A	T	10: 45,469,148	H27Q	probably benign	Het
Mgat4c	A	T	10: 102,378,209	R18*	probably null	Het
Myct1	C	A	10: 5,604,492	H120N	probably damaging	Het
Nek1	A	T	8: 61,106,795	D984V	probably benign	Het
Nfu1	A	T	6: 87,009,881		probably benign	Het
Nipsnap1	A	T	11: 4,883,366		probably null	Het
Nrxn3	T	A	12: 89,510,607	M520K	probably damaging	Het
Oacyl	A	G	18: 65,720,252	D143G	probably benign	Het
Obox5	A	G	7: 15,758,807	Y229C	probably damaging	Het
Olfr340	A	G	2: 36,452,690	Y35C	probably damaging	Het
Olfr347	G	A	2: 36,734,424	M34I	probably benign	Het
Olfr448	T	C	6: 42,897,090	V213A	probably damaging	Het
Olfr669	T	C	7: 104,939,198	L224P	probably damaging	Het
Otogl	C	T	10: 107,866,654	A713T	probably benign	Het
Pcdhb17	A	C	18: 37,486,513	N452T	probably benign	Het
Pi16	A	G	17: 29,326,339	Y192C	probably damaging	Het
Pla2g5	T	C	4: 138,804,519	D58G	probably damaging	Het
Plpp4	G	T	7: 129,379,483	V153F	unknown	Het
Plxna2	C	A	1: 194,644,568	S270*	probably null	Het
Pole	T	A	5: 110,325,102		probably null	Het
Prmt7	T	C	8: 106,235,100	F215S	unknown	Het
Ptpn21	C	T	12: 98,688,912	V599I	probably damaging	Het
Rab26	C	A	17: 24,530,678	R131L	probably damaging	Het
Raph1	A	T	1: 60,525,977	V117D	probably benign	Het
Sacs	T	C	14: 61,210,396	V3297A	probably damaging	Het
Serpine1	C	A	5: 137,066,942	A262S	probably benign	Het
Sgf29	A	G	7: 126,672,049	D193G	probably null	Het
Sh3rf2	G	A	18: 42,104,162		probably null	Het
Sipa1l1	T	C	12: 82,422,462	V1245A	possibly damaging	Het
Slc22a7	A	G	17: 46,438,298	L31P	probably damaging	Het
Slc24a5	G	A	2: 125,088,191	V471I	probably benign	Het
Slc26a7	A	T	4: 14,533,639	Y395N	probably damaging	Het
Slc38a2	T	C	15: 96,693,301	M229V	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Susd1	G	A	4: 59,411,318	R225*	probably null	Het
Suz12	T	A	11: 79,993,593	F92I	probably damaging	Het
Tmem114	C	A	16: 8,424,746		probably benign	Het
Tmem68	A	G	4: 3,564,107	V159A	probably benign	Het
Tpra1	T	A	6: 88,908,294	I76N	probably damaging	Het
Trim45	A	G	3: 100,932,037	T752A	unknown	Het
Trp63	C	A	16: 25,820,477	H138Q	probably damaging	Het
Ugt2a2	T	C	5: 87,460,396	D528G	possibly damaging	Het
Vmn2r39	T	G	7: 9,014,762	K858N	possibly damaging	Het
Zfp629	A	T	7: 127,611,312	S442T	probably 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
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
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
RF020:Nlrp9c	UTSW	7	26385224	missense	probably benign
X0065:Nlrp9c	UTSW	7	26380430	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CATTTTGTGTTGGCAGCCTC -3'
(R):5'- AGCTACAACACCATTATAGATCGTC -3'

Sequencing Primer
(F):5'- GCACAAGTTTGTCCTGAGTTCCAAG -3'
(R):5'- TCGTCAATACAAAGCATTACTGGAC -3'

Posted On

2019-05-15