Mutagenetix > Incidental Mutation

Incidental Mutation 'R1789:Nlrp9c'

201612

Institutional Source

Beutler Lab

Gene Symbol

Nlrp9c

Ensembl Gene

ENSMUSG00000040614

Gene Name

NLR family, pyrin domain containing 9C

Synonyms

Nalp9c, Nalp-zeta

MMRRC Submission

039820-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26064116-26103125 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26079915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 704 (D704Y)

Ref Sequence

ENSEMBL: ENSMUSP00000083106 (fasta)

Gene Model

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

AlphaFold

Q66X01

Predicted Effect

probably benign
Transcript: ENSMUST00000041845
AA Change: D649Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036041
Gene: ENSMUSG00000040614
AA Change: D649Y

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 benign
Transcript: ENSMUST00000085944
AA Change: D704Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: D704Y

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: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,184,701 (GRCm39)	P986L	probably damaging	Het
Acad10	A	T	5: 121,769,456 (GRCm39)	Y667N	possibly damaging	Het
Ahi1	G	A	10: 20,839,014 (GRCm39)	G121D	probably benign	Het
Ampd1	T	A	3: 103,006,442 (GRCm39)	I690N	possibly damaging	Het
Amy1	C	A	3: 113,351,814 (GRCm39)	W425L	possibly damaging	Het
Arhgap27	A	T	11: 103,223,831 (GRCm39)	V823E	probably damaging	Het
Arhgef17	A	G	7: 100,579,077 (GRCm39)	S624P	probably damaging	Het
Arid5b	T	C	10: 68,021,897 (GRCm39)	H231R	probably damaging	Het
Aspscr1	C	A	11: 120,579,386 (GRCm39)	T78N	probably damaging	Het
Auts2	T	A	5: 131,501,288 (GRCm39)	T42S	probably damaging	Het
Ccdc171	A	G	4: 83,473,045 (GRCm39)	D158G	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Cfap61	T	C	2: 145,781,913 (GRCm39)		probably null	Het
Chrna5	T	C	9: 54,911,935 (GRCm39)	V245A	possibly damaging	Het
Cntnap5c	G	A	17: 58,320,916 (GRCm39)	G163R	probably damaging	Het
Col5a2	A	G	1: 45,417,465 (GRCm39)		probably null	Het
Col5a2	T	C	1: 45,433,936 (GRCm39)	Q759R	probably damaging	Het
Comp	A	G	8: 70,829,796 (GRCm39)	D340G	probably benign	Het
Cyfip1	T	A	7: 55,576,143 (GRCm39)	D1104E	probably damaging	Het
Dnah11	A	T	12: 118,002,515 (GRCm39)	S308T	probably damaging	Het
Dnah5	A	G	15: 28,270,572 (GRCm39)	H958R	probably benign	Het
Elp3	A	G	14: 65,785,368 (GRCm39)	Y478H	probably damaging	Het
Fam237b	A	T	5: 5,625,652 (GRCm39)	Q116L	possibly damaging	Het
Fat3	T	C	9: 16,288,281 (GRCm39)	Y414C	probably benign	Het
Fbxo10	C	A	4: 45,046,389 (GRCm39)	A574S	probably damaging	Het
Fsip2	G	T	2: 82,807,906 (GRCm39)	L1408F	probably benign	Het
Fubp3	T	C	2: 31,501,747 (GRCm39)	V425A	possibly damaging	Het
Gm7168	A	T	17: 14,169,846 (GRCm39)	R404S	probably benign	Het
Gpd1	T	G	15: 99,621,083 (GRCm39)	F299C	probably damaging	Het
Gpr137	C	T	19: 6,919,425 (GRCm39)		probably benign	Het
Grin3b	T	C	10: 79,809,242 (GRCm39)	S331P	probably benign	Het
Grk3	T	A	5: 113,089,584 (GRCm39)	I281F	probably damaging	Het
Hoxb7	T	A	11: 96,177,607 (GRCm39)	S18R	probably damaging	Het
Igf1r	C	T	7: 67,864,681 (GRCm39)	R1160*	probably null	Het
Itfg1	A	G	8: 86,452,141 (GRCm39)		probably null	Het
Itgb8	T	C	12: 119,166,190 (GRCm39)	I114V	probably benign	Het
Kcnk1	A	G	8: 126,752,123 (GRCm39)	E243G	possibly damaging	Het
Kif27	A	G	13: 58,491,822 (GRCm39)	L439P	probably damaging	Het
Kif2c	T	A	4: 117,024,558 (GRCm39)	Q279L	probably benign	Het
Kmt2d	A	T	15: 98,749,955 (GRCm39)		probably benign	Het
L3mbtl1	A	G	2: 162,816,422 (GRCm39)	T821A	probably benign	Het
Lrrc24	A	T	15: 76,606,778 (GRCm39)	M206K	probably benign	Het
Mamdc4	T	G	2: 25,457,634 (GRCm39)	K460Q	possibly damaging	Het
Maml2	C	G	9: 13,608,641 (GRCm39)	L30V	probably damaging	Het
Mc5r	C	G	18: 68,471,741 (GRCm39)		probably null	Het
Myo10	T	G	15: 25,726,611 (GRCm39)		probably null	Het
Myo1e	T	A	9: 70,246,066 (GRCm39)	L419Q	probably damaging	Het
Myo6	C	A	9: 80,207,854 (GRCm39)	H1115Q	probably damaging	Het
Myo7a	A	G	7: 97,756,302 (GRCm39)	V10A	probably damaging	Het
Myoz2	C	T	3: 122,819,776 (GRCm39)	R61H	probably damaging	Het
Ncdn	G	A	4: 126,645,796 (GRCm39)	R38C	probably damaging	Het
Nckap1	T	A	2: 80,350,900 (GRCm39)	T736S	probably benign	Het
Ncor2	G	A	5: 125,096,954 (GRCm39)	A2325V	probably damaging	Het
Nid2	T	A	14: 19,802,499 (GRCm39)	V140E	possibly damaging	Het
Notch3	T	A	17: 32,377,699 (GRCm39)	S126C	probably damaging	Het
Or2g7	T	C	17: 38,378,839 (GRCm39)	I259T	probably damaging	Het
Or5p60	A	G	7: 107,724,122 (GRCm39)	F116S	probably benign	Het
Or5w10	A	T	2: 87,375,327 (GRCm39)	L187H	probably damaging	Het
Or6c219	A	T	10: 129,781,451 (GRCm39)	L160*	probably null	Het
Or6c6c	T	C	10: 129,541,476 (GRCm39)	M243T	possibly damaging	Het
Or6d15	A	C	6: 116,559,658 (GRCm39)	F83C	probably damaging	Het
Pdzd7	A	G	19: 45,027,667 (GRCm39)	I269T	probably damaging	Het
Phf3	A	T	1: 30,845,287 (GRCm39)	D1299E	probably damaging	Het
Pitx2	T	A	3: 129,012,403 (GRCm39)	Y271N	probably damaging	Het
Polk	T	C	13: 96,633,140 (GRCm39)	E301G	probably damaging	Het
Prkdc	C	A	16: 15,557,388 (GRCm39)	N2230K	probably damaging	Het
Prlr	A	G	15: 10,322,622 (GRCm39)	E170G	probably benign	Het
Prss55	A	G	14: 64,313,179 (GRCm39)	I235T	probably damaging	Het
Psd3	T	C	8: 68,413,217 (GRCm39)	I724V	probably benign	Het
Rabep2	A	G	7: 126,037,971 (GRCm39)	T248A	possibly damaging	Het
Rbm26	T	A	14: 105,354,509 (GRCm39)	K949N	probably benign	Het
Rnf213	T	A	11: 119,331,047 (GRCm39)	D2085E	probably damaging	Het
Serpinb7	A	T	1: 107,378,003 (GRCm39)	H232L	possibly damaging	Het
Slu7	A	G	11: 43,336,069 (GRCm39)	Q484R	probably benign	Het
Smg1	A	G	7: 117,745,021 (GRCm39)	S3044P	possibly damaging	Het
Snrnp48	A	G	13: 38,405,336 (GRCm39)	D248G	possibly damaging	Het
Snrpc	C	A	17: 28,064,193 (GRCm39)	P66Q	unknown	Het
Snrpn	T	A	7: 59,633,207 (GRCm39)		probably benign	Het
Spag17	T	A	3: 99,846,672 (GRCm39)	S65R	possibly damaging	Het
Srsf6	C	A	2: 162,776,408 (GRCm39)		probably benign	Het
Stil	T	A	4: 114,898,979 (GRCm39)	M1203K	probably benign	Het
Syt17	T	C	7: 118,036,061 (GRCm39)	T106A	probably benign	Het
Tbx15	C	T	3: 99,259,562 (GRCm39)	Q478*	probably null	Het
Tg	A	T	15: 66,609,397 (GRCm39)	Q319L	probably benign	Het
Thada	A	G	17: 84,755,461 (GRCm39)	L243P	probably damaging	Het
Thada	G	T	17: 84,755,462 (GRCm39)	L243I	probably damaging	Het
Tnnt3	A	G	7: 142,066,101 (GRCm39)	R211G	probably damaging	Het
Togaram1	A	T	12: 65,049,409 (GRCm39)	Q1282L	possibly damaging	Het
Tpm3-rs7	T	G	14: 113,552,379 (GRCm39)	M91R	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Ttll7	T	G	3: 146,621,535 (GRCm39)	L378R	probably damaging	Het
Tyw1	T	G	5: 130,287,834 (GRCm39)	I22R	probably damaging	Het
Ubr3	T	C	2: 69,846,711 (GRCm39)	S1645P	possibly damaging	Het
Ubr4	T	C	4: 139,120,364 (GRCm39)	L263P	probably damaging	Het
Unc13c	T	C	9: 73,663,621 (GRCm39)	E1071G	possibly damaging	Het
Vmn2r44	G	T	7: 8,383,122 (GRCm39)	D157E	possibly damaging	Het
Vps16	C	T	2: 130,285,520 (GRCm39)	T821I	probably benign	Het
Washc4	T	C	10: 83,415,389 (GRCm39)	V793A	possibly damaging	Het
Wdr35	G	T	12: 9,027,435 (GRCm39)		probably null	Het
Zfp277	A	G	12: 40,414,084 (GRCm39)	F254L	probably benign	Het

Other mutations in Nlrp9c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Nlrp9c	APN	7	26,084,013 (GRCm39)	missense	probably benign	0.00
IGL00814:Nlrp9c	APN	7	26,084,175 (GRCm39)	missense	probably benign	0.23
IGL00919:Nlrp9c	APN	7	26,093,481 (GRCm39)	nonsense	probably null
IGL01762:Nlrp9c	APN	7	26,084,850 (GRCm39)	missense	probably damaging	1.00
IGL01928:Nlrp9c	APN	7	26,074,847 (GRCm39)	splice site	probably benign
IGL02008:Nlrp9c	APN	7	26,084,576 (GRCm39)	missense	probably benign	0.16
IGL02389:Nlrp9c	APN	7	26,093,632 (GRCm39)	missense	probably benign
IGL02535:Nlrp9c	APN	7	26,071,522 (GRCm39)	missense	probably damaging	1.00
IGL02685:Nlrp9c	APN	7	26,084,982 (GRCm39)	missense	probably damaging	0.98
IGL02904:Nlrp9c	APN	7	26,074,715 (GRCm39)	missense	probably damaging	1.00
IGL02935:Nlrp9c	APN	7	26,084,701 (GRCm39)	missense	probably benign	0.00
IGL03006:Nlrp9c	APN	7	26,071,507 (GRCm39)	missense	probably damaging	0.98
IGL03140:Nlrp9c	APN	7	26,079,914 (GRCm39)	missense	probably benign	0.30
IGL03201:Nlrp9c	APN	7	26,084,533 (GRCm39)	missense	probably benign	0.00
IGL03243:Nlrp9c	APN	7	26,064,457 (GRCm39)	missense	probably damaging	0.99
holy_grail	UTSW	7	26,081,837 (GRCm39)	missense	probably benign
IGL03054:Nlrp9c	UTSW	7	26,081,701 (GRCm39)	splice site	probably null
K7894:Nlrp9c	UTSW	7	26,084,323 (GRCm39)	missense	possibly damaging	0.94
R0018:Nlrp9c	UTSW	7	26,071,423 (GRCm39)	missense	possibly damaging	0.89
R0018:Nlrp9c	UTSW	7	26,071,423 (GRCm39)	missense	possibly damaging	0.89
R0238:Nlrp9c	UTSW	7	26,077,437 (GRCm39)	missense	possibly damaging	0.90
R0238:Nlrp9c	UTSW	7	26,077,437 (GRCm39)	missense	possibly damaging	0.90
R0335:Nlrp9c	UTSW	7	26,093,561 (GRCm39)	missense	possibly damaging	0.92
R0391:Nlrp9c	UTSW	7	26,070,901 (GRCm39)	splice site	probably benign
R0433:Nlrp9c	UTSW	7	26,085,244 (GRCm39)	missense	probably benign	0.20
R1035:Nlrp9c	UTSW	7	26,070,702 (GRCm39)	splice site	probably benign
R1118:Nlrp9c	UTSW	7	26,083,862 (GRCm39)	missense	probably benign	0.01
R1119:Nlrp9c	UTSW	7	26,083,862 (GRCm39)	missense	probably benign	0.01
R1173:Nlrp9c	UTSW	7	26,079,860 (GRCm39)	missense	probably damaging	1.00
R1519:Nlrp9c	UTSW	7	26,077,526 (GRCm39)	missense	possibly damaging	0.88
R1528:Nlrp9c	UTSW	7	26,081,723 (GRCm39)	missense	probably damaging	0.99
R1616:Nlrp9c	UTSW	7	26,083,862 (GRCm39)	missense	probably benign	0.01
R1774:Nlrp9c	UTSW	7	26,093,543 (GRCm39)	missense	probably benign	0.05
R1869:Nlrp9c	UTSW	7	26,084,245 (GRCm39)	nonsense	probably null
R1870:Nlrp9c	UTSW	7	26,084,245 (GRCm39)	nonsense	probably null
R1920:Nlrp9c	UTSW	7	26,084,319 (GRCm39)	missense	probably damaging	1.00
R1987:Nlrp9c	UTSW	7	26,077,481 (GRCm39)	missense	probably benign	0.31
R2022:Nlrp9c	UTSW	7	26,084,221 (GRCm39)	missense	probably damaging	1.00
R2309:Nlrp9c	UTSW	7	26,077,512 (GRCm39)	missense	probably damaging	1.00
R2327:Nlrp9c	UTSW	7	26,074,747 (GRCm39)	missense	probably damaging	1.00
R3405:Nlrp9c	UTSW	7	26,084,707 (GRCm39)	missense	probably benign	0.01
R3548:Nlrp9c	UTSW	7	26,070,876 (GRCm39)	missense	probably damaging	1.00
R3846:Nlrp9c	UTSW	7	26,081,701 (GRCm39)	splice site	probably null
R4179:Nlrp9c	UTSW	7	26,084,086 (GRCm39)	missense	possibly damaging	0.74
R4460:Nlrp9c	UTSW	7	26,077,523 (GRCm39)	missense	probably damaging	1.00
R4669:Nlrp9c	UTSW	7	26,074,793 (GRCm39)	missense	possibly damaging	0.90
R4708:Nlrp9c	UTSW	7	26,084,265 (GRCm39)	missense	probably benign	0.07
R4810:Nlrp9c	UTSW	7	26,077,602 (GRCm39)	splice site	probably null
R4824:Nlrp9c	UTSW	7	26,079,989 (GRCm39)	missense	possibly damaging	0.49
R4915:Nlrp9c	UTSW	7	26,083,885 (GRCm39)	missense	probably benign	0.34
R4996:Nlrp9c	UTSW	7	26,085,172 (GRCm39)	missense	possibly damaging	0.92
R5468:Nlrp9c	UTSW	7	26,064,425 (GRCm39)	missense	probably benign	0.00
R5525:Nlrp9c	UTSW	7	26,083,926 (GRCm39)	missense	probably damaging	1.00
R5526:Nlrp9c	UTSW	7	26,081,791 (GRCm39)	missense	possibly damaging	0.95
R6020:Nlrp9c	UTSW	7	26,084,150 (GRCm39)	missense	probably benign	0.08
R6175:Nlrp9c	UTSW	7	26,077,426 (GRCm39)	splice site	probably null
R6454:Nlrp9c	UTSW	7	26,085,199 (GRCm39)	missense	possibly damaging	0.91
R6493:Nlrp9c	UTSW	7	26,081,812 (GRCm39)	missense	probably damaging	1.00
R6649:Nlrp9c	UTSW	7	26,070,747 (GRCm39)	missense	probably damaging	1.00
R6653:Nlrp9c	UTSW	7	26,070,747 (GRCm39)	missense	probably damaging	1.00
R6739:Nlrp9c	UTSW	7	26,084,850 (GRCm39)	missense	probably damaging	0.99
R6883:Nlrp9c	UTSW	7	26,077,556 (GRCm39)	missense	probably benign	0.18
R7097:Nlrp9c	UTSW	7	26,085,046 (GRCm39)	missense	probably damaging	1.00
R7122:Nlrp9c	UTSW	7	26,085,046 (GRCm39)	missense	probably damaging	1.00
R7174:Nlrp9c	UTSW	7	26,084,722 (GRCm39)	missense	probably benign	0.03
R7365:Nlrp9c	UTSW	7	26,070,822 (GRCm39)	missense	possibly damaging	0.93
R7378:Nlrp9c	UTSW	7	26,064,440 (GRCm39)	missense	probably benign	0.14
R7427:Nlrp9c	UTSW	7	26,070,860 (GRCm39)	missense	probably benign	0.00
R7450:Nlrp9c	UTSW	7	26,064,364 (GRCm39)	missense	probably benign	0.45
R7999:Nlrp9c	UTSW	7	26,084,914 (GRCm39)	missense	possibly damaging	0.94
R8036:Nlrp9c	UTSW	7	26,070,864 (GRCm39)	missense	possibly damaging	0.49
R8056:Nlrp9c	UTSW	7	26,085,112 (GRCm39)	missense	probably damaging	1.00
R8249:Nlrp9c	UTSW	7	26,074,778 (GRCm39)	nonsense	probably null
R8729:Nlrp9c	UTSW	7	26,071,428 (GRCm39)	missense	probably benign	0.12
R9012:Nlrp9c	UTSW	7	26,074,733 (GRCm39)	missense	probably benign	0.18
R9104:Nlrp9c	UTSW	7	26,081,837 (GRCm39)	missense	probably benign
R9106:Nlrp9c	UTSW	7	26,081,837 (GRCm39)	missense	probably benign
R9129:Nlrp9c	UTSW	7	26,077,428 (GRCm39)	critical splice donor site	probably null
R9519:Nlrp9c	UTSW	7	26,085,302 (GRCm39)	missense	possibly damaging	0.91
RF020:Nlrp9c	UTSW	7	26,084,649 (GRCm39)	missense	probably benign
X0065:Nlrp9c	UTSW	7	26,079,855 (GRCm39)	missense	probably damaging	0.99
Z1177:Nlrp9c	UTSW	7	26,084,250 (GRCm39)	missense	possibly damaging	0.54
Z1177:Nlrp9c	UTSW	7	26,084,200 (GRCm39)	missense	probably damaging	1.00
Z1177:Nlrp9c	UTSW	7	26,081,773 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- GACAGGAACGTTTTATAAACATGCC -3'
(R):5'- CTGGGAAAGGATTATGTAAGTTGC -3'

Sequencing Primer
(F):5'- GCTTTTGAAGGCACCTGTATACAG -3'
(R):5'- AAGTTGCTCTGCCATGGAC -3'

Posted On

2014-06-23