Mutagenetix > Incidental Mutation

Incidental Mutation 'R7468:Nlrc4'

578995

Institutional Source

Beutler Lab

Gene Symbol

Nlrc4

Ensembl Gene

ENSMUSG00000039193

Gene Name

NLR family, CARD domain containing 4

Synonyms

9530011P19Rik, Card12, Ipaf

MMRRC Submission

045542-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R7468 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74733254-74766140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74752507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 625 (D625E)

Ref Sequence

ENSEMBL: ENSMUSP00000059637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052124]

AlphaFold

Q3UP24

PDB Structure

Crystal structure of NLRC4 reveals its autoinhibition mechanism [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000052124
AA Change: D625E

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

SMART Domains

Protein: ENSMUSP00000059637
Gene: ENSMUSG00000039193
AA Change: D625E

Domain	Start	End	E-Value	Type
Pfam:CARD	1	87	1.4e-20	PFAM
Pfam:NACHT	163	314	1.3e-28	PFAM
SCOP:d1yrga_	734	1015	3e-20	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (86/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygotes for a null allele show lack of caspase-1 activation in macrophages infected with Legionella and Salmonella, and enhanced permissivity to Legionella replication. Homozygotes for another null allele fail to show caspase dependent cell death andIL-1beta secretion upon Salmonella infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	G	1: 156,450,104 (GRCm39)	N90K	possibly damaging	Het
Acox1	T	C	11: 116,069,001 (GRCm39)	T415A	possibly damaging	Het
Acy1	T	C	9: 106,314,921 (GRCm39)	M1V	probably null	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Alpk3	C	A	7: 80,750,746 (GRCm39)	Y1505*	probably null	Het
Ankrd17	T	C	5: 90,390,902 (GRCm39)	N2256S	probably benign	Het
Ankrd22	C	A	19: 34,126,692 (GRCm39)	C46F	possibly damaging	Het
Arhgef5	A	T	6: 43,257,605 (GRCm39)	K1291*	probably null	Het
Arl9	T	A	5: 77,158,276 (GRCm39)	Y119*	probably null	Het
Asb14	T	C	14: 26,622,805 (GRCm39)	V89A	probably benign	Het
Banp	T	G	8: 122,676,588 (GRCm39)		probably null	Het
Btn2a2	T	C	13: 23,666,933 (GRCm39)	N224S	probably benign	Het
C1ra	C	T	6: 124,499,403 (GRCm39)	Q530*	probably null	Het
C2cd6	A	C	1: 59,107,844 (GRCm39)	S273A	probably benign	Het
Cd1d2	A	T	3: 86,895,583 (GRCm39)		probably null	Het
Cdc42bpb	T	C	12: 111,306,307 (GRCm39)	D132G	probably damaging	Het
Cfap45	C	A	1: 172,362,877 (GRCm39)	Y289*	probably null	Het
Chrdl2	T	C	7: 99,659,332 (GRCm39)		probably null	Het
Cilk1	A	G	9: 78,065,221 (GRCm39)	K377R	probably benign	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Dcaf11	T	C	14: 55,802,966 (GRCm39)	F292L	possibly damaging	Het
Dgcr8	A	G	16: 18,077,487 (GRCm39)	F641S	probably damaging	Het
Dnm3	G	A	1: 162,149,198 (GRCm39)		probably null	Het
Efcab3	G	T	11: 104,640,526 (GRCm39)	S1088I	probably benign	Het
Eral1	T	C	11: 77,966,219 (GRCm39)	K320E	probably damaging	Het
Eva1a	A	G	6: 82,069,002 (GRCm39)	T110A	possibly damaging	Het
Fbxo42	A	G	4: 140,926,917 (GRCm39)	D399G	possibly damaging	Het
Frs2	T	C	10: 116,910,007 (GRCm39)	T452A	possibly damaging	Het
Git2	T	A	5: 114,871,958 (GRCm39)	D542V	probably damaging	Het
Grk2	T	A	19: 4,356,063 (GRCm39)		probably benign	Het
Gsg1l2	A	G	11: 67,676,110 (GRCm39)	N158S	possibly damaging	Het
Hc	T	C	2: 34,918,063 (GRCm39)	N740S	probably benign	Het
Hectd1	T	C	12: 51,791,588 (GRCm39)		probably null	Het
Hemk1	A	G	9: 107,208,288 (GRCm39)		probably null	Het
Hormad2	G	T	11: 4,362,245 (GRCm39)	Y126*	probably null	Het
Hr	A	G	14: 70,795,652 (GRCm39)	E399G	possibly damaging	Het
Ilf3	C	A	9: 21,314,707 (GRCm39)	H780N	unknown	Het
Inpp5e	A	T	2: 26,298,161 (GRCm39)	S147T	probably benign	Het
Irag2	C	A	6: 145,119,427 (GRCm39)		probably null	Het
Jmjd6	T	C	11: 116,733,275 (GRCm39)	D134G	probably damaging	Het
Kif23	G	T	9: 61,844,457 (GRCm39)	Y120*	probably null	Het
Klk12	T	A	7: 43,422,780 (GRCm39)	Y236N	probably damaging	Het
Kmt5b	C	A	19: 3,852,799 (GRCm39)	Y186*	probably null	Het
Krtap9-5	A	G	11: 99,840,132 (GRCm39)	T278A	unknown	Het
Lca5	T	A	9: 83,305,509 (GRCm39)	D99V	probably damaging	Het
Leng9	A	G	7: 4,151,800 (GRCm39)	V292A	probably benign	Het
Lime1	A	G	2: 181,025,135 (GRCm39)	R231G	probably benign	Het
Mctp2	T	A	7: 71,861,438 (GRCm39)	E402D	probably damaging	Het
Mrpl28	T	A	17: 26,343,589 (GRCm39)	S116R	probably damaging	Het
Muc15	A	T	2: 110,561,862 (GRCm39)	R99S	probably benign	Het
Myh2	G	A	11: 67,083,368 (GRCm39)	A1444T	probably benign	Het
Mynn	T	A	3: 30,657,825 (GRCm39)	Y48N	probably damaging	Het
Myo1b	A	T	1: 51,836,639 (GRCm39)	V274E	possibly damaging	Het
Nemp1	T	A	10: 127,528,923 (GRCm39)	M209K	possibly damaging	Het
Or10al6	C	T	17: 38,082,910 (GRCm39)	A122V	probably damaging	Het
Or11a4	T	C	17: 37,536,276 (GRCm39)	F87L	probably benign	Het
Or4p4	T	C	2: 88,482,622 (GRCm39)	L42P	probably damaging	Het
Otog	T	C	7: 45,913,543 (GRCm39)	V792A	probably benign	Het
Paqr8	T	C	1: 21,005,442 (GRCm39)	Y199H	probably damaging	Het
Popdc3	A	G	10: 45,191,117 (GRCm39)	D76G	probably damaging	Het
Ppme1	T	C	7: 99,991,069 (GRCm39)	N210D	probably benign	Het
Prdm15	A	C	16: 97,636,842 (GRCm39)	Y158*	probably null	Het
Prrg2	A	T	7: 44,709,687 (GRCm39)	L70Q	probably benign	Het
Psmg4	C	T	13: 34,361,966 (GRCm39)	R85W	probably damaging	Het
Rab11fip4	A	T	11: 79,580,478 (GRCm39)	T437S	probably benign	Het
Rap2a	T	A	14: 120,716,338 (GRCm39)	M67K	probably damaging	Het
Rnf123	A	T	9: 107,946,208 (GRCm39)	H322Q	probably benign	Het
Rxfp2	A	T	5: 149,990,801 (GRCm39)	T521S	possibly damaging	Het
Scrn2	T	G	11: 96,923,992 (GRCm39)	V292G	possibly damaging	Het
Serpina3n	C	A	12: 104,377,656 (GRCm39)	P303H	probably benign	Het
Spop	C	T	11: 95,376,727 (GRCm39)	T260M	probably damaging	Het
Surf2	G	A	2: 26,809,354 (GRCm39)	G224D	probably benign	Het
Synm	T	G	7: 67,382,971 (GRCm39)	N669T	unknown	Het
Tmprss13	T	C	9: 45,239,721 (GRCm39)	S10P	unknown	Het
Trav9d-1	T	A	14: 53,029,970 (GRCm39)	S25T	probably benign	Het
Trpc3	A	T	3: 36,678,565 (GRCm39)	I840K	probably damaging	Het
Tsbp1	T	A	17: 34,636,539 (GRCm39)		probably null	Het
Tssc4	C	A	7: 142,622,999 (GRCm39)		probably benign	Het
Ttc39d	G	T	17: 80,523,579 (GRCm39)	R79S	possibly damaging	Het
Txlnb	T	A	10: 17,675,082 (GRCm39)	S78R	probably damaging	Het
Vmn1r142	T	A	7: 21,862,784 (GRCm39)	Q226L	possibly damaging	Het
Vmn1r230	T	C	17: 21,067,146 (GRCm39)	S112P	probably damaging	Het
Wrnip1	T	C	13: 33,000,360 (GRCm39)	F456L	possibly damaging	Het
Zc3h8	G	T	2: 128,775,215 (GRCm39)	H148Q	probably benign	Het
Zcchc3	A	G	2: 152,256,615 (GRCm39)	V28A	probably benign	Het
Zdbf2	T	A	1: 63,346,669 (GRCm39)	C1683S	probably benign	Het
Zfp874a	T	C	13: 67,573,723 (GRCm39)		probably null	Het
Zmym4	A	G	4: 126,776,029 (GRCm39)	S1260P	probably benign	Het

Other mutations in Nlrc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Nlrc4	APN	17	74,753,529 (GRCm39)	missense	probably benign	0.02
IGL00427:Nlrc4	APN	17	74,754,087 (GRCm39)	missense	probably benign
IGL00823:Nlrc4	APN	17	74,754,985 (GRCm39)	missense	probably benign	0.01
IGL01404:Nlrc4	APN	17	74,752,706 (GRCm39)	missense	probably damaging	1.00
IGL02178:Nlrc4	APN	17	74,753,838 (GRCm39)	missense	probably damaging	1.00
IGL02266:Nlrc4	APN	17	74,753,162 (GRCm39)	missense	possibly damaging	0.72
IGL03342:Nlrc4	APN	17	74,752,313 (GRCm39)	missense	probably damaging	1.00
Inwood	UTSW	17	74,752,625 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Nlrc4	UTSW	17	74,753,304 (GRCm39)	missense	probably damaging	0.99
PIT4466001:Nlrc4	UTSW	17	74,734,114 (GRCm39)	missense	probably benign	0.01
R0077:Nlrc4	UTSW	17	74,753,826 (GRCm39)	missense	probably damaging	1.00
R0398:Nlrc4	UTSW	17	74,752,915 (GRCm39)	missense	probably damaging	0.99
R0639:Nlrc4	UTSW	17	74,733,958 (GRCm39)	missense	probably benign	0.16
R1498:Nlrc4	UTSW	17	74,753,408 (GRCm39)	missense	probably benign	0.43
R1565:Nlrc4	UTSW	17	74,748,926 (GRCm39)	missense	probably benign	0.00
R1624:Nlrc4	UTSW	17	74,752,184 (GRCm39)	missense	possibly damaging	0.55
R1666:Nlrc4	UTSW	17	74,752,901 (GRCm39)	missense	probably damaging	0.97
R1668:Nlrc4	UTSW	17	74,752,901 (GRCm39)	missense	probably damaging	0.97
R1690:Nlrc4	UTSW	17	74,744,518 (GRCm39)	nonsense	probably null
R1723:Nlrc4	UTSW	17	74,748,903 (GRCm39)	missense	probably damaging	1.00
R1988:Nlrc4	UTSW	17	74,733,938 (GRCm39)	missense	probably benign	0.09
R1992:Nlrc4	UTSW	17	74,752,628 (GRCm39)	missense	probably benign	0.04
R2141:Nlrc4	UTSW	17	74,754,946 (GRCm39)	splice site	probably benign
R2256:Nlrc4	UTSW	17	74,752,625 (GRCm39)	missense	probably damaging	1.00
R2897:Nlrc4	UTSW	17	74,755,040 (GRCm39)	missense	probably benign
R3117:Nlrc4	UTSW	17	74,743,063 (GRCm39)	missense	probably benign	0.00
R3861:Nlrc4	UTSW	17	74,752,616 (GRCm39)	missense	probably benign	0.00
R4093:Nlrc4	UTSW	17	74,752,953 (GRCm39)	missense	probably benign	0.20
R4212:Nlrc4	UTSW	17	74,754,110 (GRCm39)	missense	possibly damaging	0.66
R4627:Nlrc4	UTSW	17	74,753,623 (GRCm39)	missense	probably damaging	1.00
R4859:Nlrc4	UTSW	17	74,743,032 (GRCm39)	missense	probably damaging	0.97
R4968:Nlrc4	UTSW	17	74,753,936 (GRCm39)	missense	probably benign	0.20
R5133:Nlrc4	UTSW	17	74,753,712 (GRCm39)	missense	possibly damaging	0.91
R5379:Nlrc4	UTSW	17	74,755,078 (GRCm39)	nonsense	probably null
R6045:Nlrc4	UTSW	17	74,753,954 (GRCm39)	missense	probably damaging	0.98
R6654:Nlrc4	UTSW	17	74,752,523 (GRCm39)	missense	possibly damaging	0.55
R6712:Nlrc4	UTSW	17	74,753,831 (GRCm39)	missense	probably damaging	0.96
R6976:Nlrc4	UTSW	17	74,752,934 (GRCm39)	missense	probably damaging	1.00
R7030:Nlrc4	UTSW	17	74,753,001 (GRCm39)	missense	probably damaging	1.00
R7153:Nlrc4	UTSW	17	74,754,098 (GRCm39)	missense	possibly damaging	0.84
R7190:Nlrc4	UTSW	17	74,752,198 (GRCm39)	missense	probably damaging	1.00
R7398:Nlrc4	UTSW	17	74,753,537 (GRCm39)	missense	probably damaging	1.00
R7417:Nlrc4	UTSW	17	74,753,483 (GRCm39)	missense	probably benign	0.18
R7639:Nlrc4	UTSW	17	74,754,952 (GRCm39)	critical splice donor site	probably null
R7716:Nlrc4	UTSW	17	74,753,651 (GRCm39)	missense	probably damaging	1.00
R7757:Nlrc4	UTSW	17	74,755,191 (GRCm39)	missense	probably benign	0.00
R7868:Nlrc4	UTSW	17	74,755,047 (GRCm39)	missense	possibly damaging	0.75
R7890:Nlrc4	UTSW	17	74,744,503 (GRCm39)	missense	probably benign	0.00
R7920:Nlrc4	UTSW	17	74,734,114 (GRCm39)	missense	probably benign	0.01
R7950:Nlrc4	UTSW	17	74,752,610 (GRCm39)	missense	probably damaging	1.00
R8154:Nlrc4	UTSW	17	74,752,904 (GRCm39)	missense	probably damaging	1.00
R8168:Nlrc4	UTSW	17	74,752,206 (GRCm39)	missense	probably benign	0.01
R8311:Nlrc4	UTSW	17	74,753,540 (GRCm39)	missense	probably damaging	1.00
R8716:Nlrc4	UTSW	17	74,752,985 (GRCm39)	missense	probably damaging	1.00
R9502:Nlrc4	UTSW	17	74,752,580 (GRCm39)	missense	probably benign	0.37
R9514:Nlrc4	UTSW	17	74,753,736 (GRCm39)	missense	probably benign	0.03
X0026:Nlrc4	UTSW	17	74,753,638 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTGGTGGCAGAGCTGAATATC -3'
(R):5'- AGTGTGGCATCAATTTGTTCTC -3'

Sequencing Primer
(F):5'- GTGGCAGAGCTGAATATCTTCCC -3'
(R):5'- GGCATCAATTTGTTCTCAGAGAG -3'

Posted On

2019-10-07