Mutagenetix > Incidental Mutation

Incidental Mutation 'R1766:Nlrp4c'

194363

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4c

Ensembl Gene

ENSMUSG00000034690

Gene Name

NLR family, pyrin domain containing 4C

Synonyms

Nalp4c, Nalp-alpha, Rnh2

MMRRC Submission

039798-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R1766 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6048160-6108148 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6076113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 671 (V671E)

Ref Sequence

ENSEMBL: ENSMUSP00000146613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037728] [ENSMUST00000121583] [ENSMUST00000208360]

AlphaFold

Q3TKR3

Predicted Effect

probably benign
Transcript: ENSMUST00000037728
AA Change: V671E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: V671E

Domain	Start	End	E-Value	Type
PYRIN	6	89	1.41e-34	SMART
Pfam:NACHT	148	317	4.5e-40	PFAM
LRR	689	716	2.91e0	SMART
LRR	718	745	1.49e1	SMART
LRR	746	772	2.5e1	SMART
LRR	774	801	6.24e1	SMART
LRR	802	829	3.07e-1	SMART
LRR	831	858	4.11e-1	SMART
LRR	859	886	3.31e-6	SMART
LRR	888	915	6.16e0	SMART
LRR	916	943	9.24e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121583
AA Change: V671E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: V671E

Domain	Start	End	E-Value	Type
PYRIN	6	89	1.41e-34	SMART
Pfam:NACHT	148	317	1.7e-39	PFAM
LRR	689	716	2.91e0	SMART
LRR	718	745	1.49e1	SMART
LRR	746	772	2.5e1	SMART
LRR	774	801	6.24e1	SMART
LRR	802	829	3.07e-1	SMART
LRR	831	858	4.11e-1	SMART
LRR	859	886	3.31e-6	SMART
LRR	888	915	6.16e0	SMART
LRR	916	943	9.24e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000208360
AA Change: V671E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	T	C	10: 42,330,491 (GRCm39)	T59A	probably benign	Het
Ankrd17	T	A	5: 90,412,656 (GRCm39)	M1223L	possibly damaging	Het
Ankrd24	G	A	10: 81,474,472 (GRCm39)	S68N	probably benign	Het
Arhgap31	A	G	16: 38,445,952 (GRCm39)	I131T	probably damaging	Het
Arhgef10	A	T	8: 15,029,836 (GRCm39)	I874F	probably damaging	Het
Arl5b	T	C	2: 15,074,648 (GRCm39)	V43A	probably benign	Het
BC051665	G	A	13: 60,932,854 (GRCm39)	H36Y	probably benign	Het
Cdh9	A	G	15: 16,778,392 (GRCm39)	D69G	probably damaging	Het
Chd6	G	A	2: 160,808,559 (GRCm39)	L1552F	probably damaging	Het
Chrd	A	G	16: 20,556,191 (GRCm39)	H584R	probably damaging	Het
Dnhd1	G	A	7: 105,343,179 (GRCm39)	V1508I	possibly damaging	Het
Dpy19l4	C	T	4: 11,303,360 (GRCm39)	G187D	probably damaging	Het
Dync2h1	T	C	9: 7,015,526 (GRCm39)		probably null	Het
Ehbp1l1	A	G	19: 5,766,434 (GRCm39)	V1303A	probably damaging	Het
Eif4e1b	G	A	13: 54,934,704 (GRCm39)	E182K	probably damaging	Het
Fam170b	A	T	14: 32,557,843 (GRCm39)	Q226L	possibly damaging	Het
Fam193a	C	T	5: 34,619,475 (GRCm39)	P760L	probably damaging	Het
Gabra5	A	T	7: 57,157,796 (GRCm39)	L6H	probably benign	Het
Gabrq	G	A	X: 71,876,989 (GRCm39)	R161H	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm7334	T	A	17: 51,006,006 (GRCm39)	D97E	probably damaging	Het
Gpsm1	G	A	2: 26,215,395 (GRCm39)	A286T	probably damaging	Het
Gsta4	C	A	9: 78,111,611 (GRCm39)	Y79*	probably null	Het
Hcn1	T	A	13: 117,793,270 (GRCm39)	V174D	probably benign	Het
Hic1	G	T	11: 75,056,620 (GRCm39)	C756*	probably null	Het
Hivep3	C	T	4: 119,953,868 (GRCm39)	T728I	probably benign	Het
Ice1	T	C	13: 70,752,561 (GRCm39)	E1175G	possibly damaging	Het
Igsf3	T	A	3: 101,338,598 (GRCm39)	L304Q	probably damaging	Het
Kpna6	T	C	4: 129,551,235 (GRCm39)	D90G	probably benign	Het
Krt73	C	T	15: 101,702,363 (GRCm39)	G500D	probably damaging	Het
Lama3	A	G	18: 12,535,119 (GRCm39)	K156E	probably damaging	Het
Mdm2	T	C	10: 117,531,927 (GRCm39)	K94E	probably damaging	Het
Mitf	T	C	6: 97,918,060 (GRCm39)	S26P	probably damaging	Het
Myh4	C	A	11: 67,147,121 (GRCm39)	Q1589K	possibly damaging	Het
Nop9	C	T	14: 55,989,591 (GRCm39)	A407V	possibly damaging	Het
Nrap	T	A	19: 56,323,474 (GRCm39)	H1366L	probably damaging	Het
Ntrk1	A	T	3: 87,685,825 (GRCm39)	C766S	probably damaging	Het
Oog3	C	T	4: 143,885,692 (GRCm39)	G302D	possibly damaging	Het
Or4q3	T	C	14: 50,583,677 (GRCm39)	Y43C	probably damaging	Het
Or52z15	A	G	7: 103,332,068 (GRCm39)	N38D	possibly damaging	Het
Or6c38	T	C	10: 128,929,616 (GRCm39)	I76V	probably benign	Het
Or7g27	A	G	9: 19,250,154 (GRCm39)	T133A	probably benign	Het
Pdzph1	C	T	17: 59,280,747 (GRCm39)	V512I	probably benign	Het
Phf2	A	C	13: 48,973,033 (GRCm39)	S408A	unknown	Het
Pigk	T	G	3: 152,445,793 (GRCm39)	L135V	probably damaging	Het
Ppp2ca	C	A	11: 52,012,773 (GRCm39)	T301N	probably benign	Het
Ppp4r3a	A	G	12: 101,024,741 (GRCm39)	S253P	probably damaging	Het
Ptgfrn	A	T	3: 100,957,438 (GRCm39)	I712N	probably benign	Het
Rapgef2	A	T	3: 79,000,010 (GRCm39)	D579E	probably damaging	Het
Rims2	T	A	15: 39,325,976 (GRCm39)	D769E	probably damaging	Het
Rptor	T	A	11: 119,615,887 (GRCm39)	C134S	probably damaging	Het
S100a1	A	G	3: 90,418,599 (GRCm39)	F72L	probably damaging	Het
Scube1	T	A	15: 83,606,146 (GRCm39)	D42V	probably damaging	Het
Sh3glb1	T	C	3: 144,418,446 (GRCm39)	D39G	probably damaging	Het
Sh3pxd2a	T	C	19: 47,261,689 (GRCm39)	T397A	probably benign	Het
Siglece	G	A	7: 43,300,956 (GRCm39)	T453M	probably damaging	Het
Slc26a1	G	A	5: 108,819,658 (GRCm39)	R514W	probably damaging	Het
Slc4a8	T	C	15: 100,685,093 (GRCm39)	V156A	probably benign	Het
Smchd1	A	T	17: 71,698,374 (GRCm39)	V1134E	probably damaging	Het
Sorbs2	A	G	8: 46,223,613 (GRCm39)	Y222C	probably damaging	Het
Sorcs3	G	T	19: 48,592,314 (GRCm39)	W326C	possibly damaging	Het
Taf2	A	G	15: 54,934,793 (GRCm39)	V45A	probably benign	Het
Tex16	T	C	X: 111,150,782 (GRCm39)	Y22H	probably benign	Het
Tiparp	A	T	3: 65,439,470 (GRCm39)	H80L	probably damaging	Het
Tmem71	T	A	15: 66,413,548 (GRCm39)	T175S	probably benign	Het
Tmem87b	T	A	2: 128,681,090 (GRCm39)	V338D	probably damaging	Het
Trdn	A	G	10: 33,240,004 (GRCm39)	K445R	probably damaging	Het
Trim14	A	G	4: 46,522,039 (GRCm39)	F213L	probably benign	Het
Tubgcp5	T	A	7: 55,464,768 (GRCm39)	S550T	probably benign	Het
Tufm	A	G	7: 126,089,644 (GRCm39)	D446G	probably benign	Het
Vipr1	A	T	9: 121,490,485 (GRCm39)	Y177F	possibly damaging	Het
Vmn2r116	A	C	17: 23,620,740 (GRCm39)	I825L	probably damaging	Het
Vmn2r12	G	T	5: 109,239,910 (GRCm39)	Q218K	probably damaging	Het
Vwa7	G	T	17: 35,242,919 (GRCm39)		probably null	Het
Ywhae	T	C	11: 75,646,491 (GRCm39)	V119A	probably damaging	Het
Zfand5	A	G	19: 21,257,888 (GRCm39)	R199G	probably damaging	Het
Zfp810	T	C	9: 22,189,828 (GRCm39)	Y360C	possibly damaging	Het
Zrsr2-ps1	A	G	11: 22,923,637 (GRCm39)	D137G	probably benign	Het

Other mutations in Nlrp4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00727:Nlrp4c	APN	7	6,069,701 (GRCm39)	missense	possibly damaging	0.80
IGL01458:Nlrp4c	APN	7	6,103,783 (GRCm39)	missense	possibly damaging	0.94
IGL01464:Nlrp4c	APN	7	6,103,783 (GRCm39)	missense	possibly damaging	0.94
IGL01470:Nlrp4c	APN	7	6,103,783 (GRCm39)	missense	possibly damaging	0.94
IGL01481:Nlrp4c	APN	7	6,103,783 (GRCm39)	missense	possibly damaging	0.94
IGL01531:Nlrp4c	APN	7	6,063,655 (GRCm39)	missense	probably damaging	1.00
IGL01595:Nlrp4c	APN	7	6,069,111 (GRCm39)	nonsense	probably null
IGL02087:Nlrp4c	APN	7	6,095,582 (GRCm39)	missense	probably damaging	1.00
IGL02226:Nlrp4c	APN	7	6,069,828 (GRCm39)	missense	possibly damaging	0.78
IGL02588:Nlrp4c	APN	7	6,087,647 (GRCm39)	missense	probably benign	0.25
IGL02822:Nlrp4c	APN	7	6,068,726 (GRCm39)	missense	probably damaging	1.00
IGL02884:Nlrp4c	APN	7	6,101,951 (GRCm39)	missense	probably damaging	1.00
IGL02943:Nlrp4c	APN	7	6,068,974 (GRCm39)	missense	probably damaging	0.96
IGL03017:Nlrp4c	APN	7	6,087,679 (GRCm39)	missense	probably benign	0.23
R0347:Nlrp4c	UTSW	7	6,069,415 (GRCm39)	missense	possibly damaging	0.69
R0579:Nlrp4c	UTSW	7	6,063,844 (GRCm39)	missense	probably benign	0.05
R1051:Nlrp4c	UTSW	7	6,068,942 (GRCm39)	missense	probably benign	0.01
R1596:Nlrp4c	UTSW	7	6,069,777 (GRCm39)	missense	probably benign
R1636:Nlrp4c	UTSW	7	6,069,737 (GRCm39)	missense	possibly damaging	0.64
R1739:Nlrp4c	UTSW	7	6,076,221 (GRCm39)	missense	probably damaging	1.00
R1824:Nlrp4c	UTSW	7	6,069,955 (GRCm39)	splice site	probably null
R1827:Nlrp4c	UTSW	7	6,068,765 (GRCm39)	missense	probably damaging	1.00
R1858:Nlrp4c	UTSW	7	6,087,655 (GRCm39)	missense	probably benign	0.02
R1902:Nlrp4c	UTSW	7	6,068,818 (GRCm39)	missense	probably damaging	0.98
R2217:Nlrp4c	UTSW	7	6,076,113 (GRCm39)	missense	probably benign
R2415:Nlrp4c	UTSW	7	6,069,047 (GRCm39)	missense	probably damaging	1.00
R3004:Nlrp4c	UTSW	7	6,068,524 (GRCm39)	missense	probably benign	0.28
R3005:Nlrp4c	UTSW	7	6,068,524 (GRCm39)	missense	probably benign	0.28
R3410:Nlrp4c	UTSW	7	6,095,569 (GRCm39)	missense	possibly damaging	0.69
R3411:Nlrp4c	UTSW	7	6,095,569 (GRCm39)	missense	possibly damaging	0.69
R3710:Nlrp4c	UTSW	7	6,068,627 (GRCm39)	missense	probably damaging	0.99
R4072:Nlrp4c	UTSW	7	6,075,709 (GRCm39)	missense	probably benign	0.00
R4073:Nlrp4c	UTSW	7	6,075,709 (GRCm39)	missense	probably benign	0.00
R4075:Nlrp4c	UTSW	7	6,075,709 (GRCm39)	missense	probably benign	0.00
R4076:Nlrp4c	UTSW	7	6,075,709 (GRCm39)	missense	probably benign	0.00
R4542:Nlrp4c	UTSW	7	6,103,826 (GRCm39)	nonsense	probably null
R4709:Nlrp4c	UTSW	7	6,068,424 (GRCm39)	missense	probably benign	0.31
R4776:Nlrp4c	UTSW	7	6,069,125 (GRCm39)	missense	probably benign	0.41
R5043:Nlrp4c	UTSW	7	6,069,824 (GRCm39)	missense	probably benign	0.01
R5258:Nlrp4c	UTSW	7	6,069,622 (GRCm39)	missense	probably benign	0.06
R6164:Nlrp4c	UTSW	7	6,095,507 (GRCm39)	missense	probably damaging	1.00
R6383:Nlrp4c	UTSW	7	6,069,052 (GRCm39)	missense	probably benign
R6650:Nlrp4c	UTSW	7	6,068,948 (GRCm39)	missense	probably damaging	0.99
R6810:Nlrp4c	UTSW	7	6,069,754 (GRCm39)	missense	probably damaging	1.00
R7095:Nlrp4c	UTSW	7	6,063,792 (GRCm39)	missense	probably damaging	0.97
R7102:Nlrp4c	UTSW	7	6,068,708 (GRCm39)	nonsense	probably null
R7104:Nlrp4c	UTSW	7	6,068,708 (GRCm39)	nonsense	probably null
R7232:Nlrp4c	UTSW	7	6,068,708 (GRCm39)	nonsense	probably null
R7444:Nlrp4c	UTSW	7	6,095,595 (GRCm39)	nonsense	probably null
R7705:Nlrp4c	UTSW	7	6,075,635 (GRCm39)	missense	probably damaging	0.97
R7966:Nlrp4c	UTSW	7	6,069,322 (GRCm39)	missense	probably damaging	0.99
R8506:Nlrp4c	UTSW	7	6,103,775 (GRCm39)	missense	possibly damaging	0.47
R8677:Nlrp4c	UTSW	7	6,075,644 (GRCm39)	missense	probably damaging	0.99
R8708:Nlrp4c	UTSW	7	6,068,603 (GRCm39)	missense	probably damaging	1.00
R8838:Nlrp4c	UTSW	7	6,069,337 (GRCm39)	missense
R9031:Nlrp4c	UTSW	7	6,107,608 (GRCm39)	makesense	probably null
R9193:Nlrp4c	UTSW	7	6,095,621 (GRCm39)	missense	probably benign
R9329:Nlrp4c	UTSW	7	6,068,498 (GRCm39)	missense	probably benign
R9388:Nlrp4c	UTSW	7	6,069,874 (GRCm39)	nonsense	probably null
R9474:Nlrp4c	UTSW	7	6,068,626 (GRCm39)	missense	possibly damaging	0.83
R9567:Nlrp4c	UTSW	7	6,063,624 (GRCm39)	missense	probably benign	0.17
R9702:Nlrp4c	UTSW	7	6,068,801 (GRCm39)	missense	probably benign	0.00
X0060:Nlrp4c	UTSW	7	6,068,917 (GRCm39)	missense	probably damaging	1.00
Z1088:Nlrp4c	UTSW	7	6,069,635 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGTGTGTGGCTGACCATTCTTC -3'
(R):5'- TGCACTCTTCCTGGCTCAAGACATC -3'

Sequencing Primer
(F):5'- TGTGACAGCCAACCTTGC -3'
(R):5'- TCAAGACATCACACAACAGTTTC -3'

Posted On

2014-05-23