Mutagenetix > Incidental Mutation

Incidental Mutation 'R4627:Nlrc4'

348914

Institutional Source

Beutler Lab

Gene Symbol

Nlrc4

Ensembl Gene

ENSMUSG00000039193

Gene Name

NLR family, CARD domain containing 4

Synonyms

9530011P19Rik, Card12, Ipaf

MMRRC Submission

041892-MU

Accession Numbers

Essential gene?

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

Stock #

R4627 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74733254-74766140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74753623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 253 (F253L)

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 damaging
Transcript: ENSMUST00000052124
AA Change: F253L

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

SMART Domains

Protein: ENSMUSP00000059637
Gene: ENSMUSG00000039193
AA Change: F253L

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	T	12: 113,508,569 (GRCm39)	D314V	probably benign	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Adamtsl2	T	A	2: 26,983,597 (GRCm39)	L331Q	probably damaging	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Aldoart1	T	C	4: 72,770,680 (GRCm39)	T43A	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ano7	T	C	1: 93,302,907 (GRCm39)	I15T	probably benign	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Aox3	A	T	1: 58,164,194 (GRCm39)	T155S	probably damaging	Het
Ap2a1	C	T	7: 44,553,843 (GRCm39)	V535M	probably damaging	Het
Apbb2	C	T	5: 66,557,419 (GRCm39)		probably null	Het
Astn1	C	A	1: 158,329,821 (GRCm39)	H225Q	possibly damaging	Het
Atm	A	G	9: 53,367,806 (GRCm39)	I2439T	possibly damaging	Het
Atp1b2	T	A	11: 69,492,160 (GRCm39)	I263F	probably damaging	Het
Ccdc184	A	T	15: 98,066,638 (GRCm39)	N148Y	probably benign	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,312,205 (GRCm39)		probably benign	Het
Cep192	C	G	18: 67,945,440 (GRCm39)	P180R	probably benign	Het
Cfap46	T	C	7: 139,237,197 (GRCm39)	Y571C	probably damaging	Het
Cfap46	A	T	7: 139,260,843 (GRCm39)	L85Q	probably damaging	Het
Chchd6	G	A	6: 89,361,642 (GRCm39)	L226F	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cobl	T	C	11: 12,201,093 (GRCm39)	E1214G	probably damaging	Het
Cpsf2	G	A	12: 101,956,154 (GRCm39)	R319Q	probably benign	Het
Csdc2	T	C	15: 81,833,324 (GRCm39)	V107A	probably benign	Het
Csmd1	A	G	8: 16,747,933 (GRCm39)	W273R	probably benign	Het
Dnah2	T	A	11: 69,356,202 (GRCm39)	N2156I	probably damaging	Het
Dsp	A	G	13: 38,352,617 (GRCm39)	Y165C	probably benign	Het
Exoc1	T	C	5: 76,690,075 (GRCm39)	V205A	probably benign	Het
Fam98c	T	C	7: 28,854,693 (GRCm39)	T49A	possibly damaging	Het
Fbln2	G	T	6: 91,236,749 (GRCm39)	V755L	probably damaging	Het
Fhad1	A	T	4: 141,623,779 (GRCm39)	V1371D	possibly damaging	Het
Folh1	A	T	7: 86,422,460 (GRCm39)	M59K	probably benign	Het
Foxf2	A	T	13: 31,810,871 (GRCm39)	H270L	probably benign	Het
Gm14401	G	A	2: 176,778,109 (GRCm39)	R65H	probably benign	Het
Gpn1	C	A	5: 31,655,737 (GRCm39)	Y592*	probably null	Het
Hmcn1	T	G	1: 150,471,645 (GRCm39)	D4903A	probably benign	Het
Hnf1a	T	C	5: 115,093,930 (GRCm39)	R220G	probably damaging	Het
Hoxd10	G	A	2: 74,522,636 (GRCm39)	A105T	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kidins220	C	T	12: 25,107,041 (GRCm39)	T1498I	possibly damaging	Het
Klhl2	G	T	8: 65,211,225 (GRCm39)	Y274*	probably null	Het
Lmbrd1	A	G	1: 24,745,080 (GRCm39)	Y140C	probably damaging	Het
Mapk8ip3	G	A	17: 25,122,267 (GRCm39)	T706I	probably benign	Het
Mast4	A	C	13: 103,470,529 (GRCm39)	S58A	possibly damaging	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Mmachc	A	T	4: 116,560,668 (GRCm39)	S276T	probably damaging	Het
Nfat5	A	T	8: 108,095,908 (GRCm39)	Q1289L	probably damaging	Het
Nr1i3	C	A	1: 171,044,014 (GRCm39)	A112E	probably benign	Het
Or10ac1	T	A	6: 42,515,375 (GRCm39)	T194S	possibly damaging	Het
Or13a17	T	A	7: 140,271,291 (GRCm39)	S158T	probably benign	Het
Or2b28	T	C	13: 21,531,634 (GRCm39)	F179L	probably damaging	Het
Or7g33	G	T	9: 19,448,969 (GRCm39)	Q86K	possibly damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Pde10a	A	C	17: 9,200,484 (GRCm39)	D779A	probably damaging	Het
Pde4b	T	C	4: 102,458,802 (GRCm39)	L486S	probably damaging	Het
Pex2	A	T	3: 5,626,341 (GRCm39)	I156N	probably damaging	Het
Phtf2	C	T	5: 20,978,738 (GRCm39)	R63Q	probably damaging	Het
Prag1	A	G	8: 36,570,446 (GRCm39)	Y343C	probably damaging	Het
Prdm16	A	T	4: 154,451,697 (GRCm39)	Y170N	probably damaging	Het
Prpf6	A	C	2: 181,243,267 (GRCm39)	K5T	probably damaging	Het
Ptpn1	A	G	2: 167,809,701 (GRCm39)	K103R	probably benign	Het
Ralgapa2	A	G	2: 146,203,373 (GRCm39)	S1159P	possibly damaging	Het
Rapgef3	G	T	15: 97,656,810 (GRCm39)	D318E	probably damaging	Het
Ripk4	A	T	16: 97,545,226 (GRCm39)	S474T	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Sec16a	A	G	2: 26,319,405 (GRCm39)	V1491A	probably damaging	Het
Sec16a	C	T	2: 26,321,080 (GRCm39)		probably null	Het
Setd7	G	T	3: 51,450,086 (GRCm39)	N113K	probably damaging	Het
Shank2	C	T	7: 143,965,161 (GRCm39)	T1502M	probably damaging	Het
Skor1	A	T	9: 63,052,758 (GRCm39)	C376S	probably damaging	Het
Slc12a3	A	T	8: 95,056,012 (GRCm39)	L49F	probably benign	Het
Slc35d3	C	T	10: 19,725,077 (GRCm39)	V260M	probably damaging	Het
Slc46a1	T	A	11: 78,357,715 (GRCm39)	V256E	probably benign	Het
Slc6a1	T	C	6: 114,285,067 (GRCm39)	S127P	probably benign	Het
Syngr4	A	G	7: 45,536,452 (GRCm39)	L190P	probably damaging	Het
Tagap	G	A	17: 8,145,773 (GRCm39)		probably null	Het
Tamm41	A	T	6: 115,011,963 (GRCm39)	N89K	probably benign	Het
Tbc1d31	T	A	15: 57,831,308 (GRCm39)	M922K	probably benign	Het
Tbk1	T	C	10: 121,403,985 (GRCm39)	N254S	possibly damaging	Het
Tfec	A	G	6: 16,840,478 (GRCm39)	S140P	probably damaging	Het
Tnrc18	T	C	5: 142,725,883 (GRCm39)	E1802G	unknown	Het
Tom1l2	C	T	11: 60,133,533 (GRCm39)		probably null	Het
Tonsl	T	G	15: 76,521,424 (GRCm39)	K323Q	probably damaging	Het
Tsnaxip1	A	T	8: 106,568,039 (GRCm39)	E268D	probably damaging	Het
Ttf1	C	A	2: 28,955,172 (GRCm39)	H179N	possibly damaging	Het
Ttn	T	C	2: 76,556,517 (GRCm39)	S30163G	probably damaging	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Ugt1a10	G	A	1: 88,146,112 (GRCm39)	R519Q	probably damaging	Het
Utp25	T	C	1: 192,790,003 (GRCm39)	T719A	probably benign	Het
Vmn2r9	T	C	5: 108,995,463 (GRCm39)	Y395C	probably damaging	Het
Vwa8	G	A	14: 79,341,137 (GRCm39)		probably null	Het
Zfp9	A	G	6: 118,441,937 (GRCm39)	Y242H	probably damaging	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
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
R7468:Nlrc4	UTSW	17	74,752,507 (GRCm39)	missense	probably benign	0.00
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'- TGCCTCGATGAGATCTTTGGC -3'
(R):5'- TGCTGCAGAGAATCGCTATG -3'

Sequencing Primer
(F):5'- CTCGATGAGATCTTTGGCACTGTC -3'
(R):5'- AGAATCGCTATGCTCTGGGC -3'

Posted On

2015-10-08