Mutagenetix > Incidental Mutation

Incidental Mutation 'R6045:Nlrc4'

483816

Institutional Source

Beutler Lab

Gene Symbol

Nlrc4

Ensembl Gene

ENSMUSG00000039193

Gene Name

NLR family, CARD domain containing 4

Synonyms

9530011P19Rik, Card12, Ipaf

MMRRC Submission

044213-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R6045 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74733254-74766140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 74753954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 143 (D143A)

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: D143A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000059637
Gene: ENSMUSG00000039193
AA Change: D143A

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,955,996 (GRCm39)	Y87C	probably benign	Het
5530401A14Rik	A	G	11: 81,784,694 (GRCm39)		probably benign	Het
Adamts5	T	C	16: 85,696,188 (GRCm39)	D323G	probably damaging	Het
Albfm1	A	T	5: 90,732,848 (GRCm39)	Q553L	possibly damaging	Het
Bicc1	G	A	10: 70,792,911 (GRCm39)	R248*	probably null	Het
Bivm	T	G	1: 44,158,233 (GRCm39)		probably benign	Het
Btnl12	G	T	16: 37,676,384 (GRCm39)	Q128K	probably benign	Het
Ccdc8	A	C	7: 16,729,956 (GRCm39)	T482P	unknown	Het
Ccnb2	T	C	9: 70,326,375 (GRCm39)	I21V	probably benign	Het
Cfap73	A	T	5: 120,769,777 (GRCm39)	I82N	probably damaging	Het
Chd3	A	C	11: 69,242,944 (GRCm39)	F1426V	possibly damaging	Het
Clcn2	A	T	16: 20,530,438 (GRCm39)		probably null	Het
Col6a5	T	C	9: 105,803,117 (GRCm39)	N1283D	unknown	Het
Cyp39a1	G	T	17: 44,042,882 (GRCm39)	G411W	probably damaging	Het
D130052B06Rik	A	T	11: 33,574,008 (GRCm39)	I202L	unknown	Het
Defa38	A	T	8: 21,585,248 (GRCm39)	C65S	possibly damaging	Het
Dlgap1	T	C	17: 71,125,093 (GRCm39)	L948P	probably damaging	Het
Dnah3	C	T	7: 119,566,745 (GRCm39)	V2494M	probably damaging	Het
Dysf	T	A	6: 84,091,054 (GRCm39)	V1076D	probably damaging	Het
Eif2ak4	C	A	2: 118,219,296 (GRCm39)	S36*	probably null	Het
Elmod3	C	T	6: 72,545,851 (GRCm39)	R297H	probably benign	Het
Epas1	C	A	17: 87,116,827 (GRCm39)	R166S	probably damaging	Het
Erv3	A	G	2: 131,697,942 (GRCm39)	L139P	probably damaging	Het
Fryl	A	G	5: 73,275,894 (GRCm39)	V90A	probably damaging	Het
Fxr2	A	G	11: 69,541,877 (GRCm39)	R439G	possibly damaging	Het
Gabrd	A	T	4: 155,470,931 (GRCm39)	V259D	possibly damaging	Het
Galnt10	A	G	11: 57,674,619 (GRCm39)	Y536C	probably damaging	Het
Gbp10	A	T	5: 105,366,269 (GRCm39)	L545Q	probably damaging	Het
Gfpt1	A	T	6: 87,062,239 (GRCm39)	I517F	probably damaging	Het
Glb1	T	C	9: 114,267,010 (GRCm39)	Y225H	probably damaging	Het
Gm1110	C	T	9: 26,794,505 (GRCm39)		probably null	Het
Gmps	C	T	3: 63,887,558 (GRCm39)	P10L	probably benign	Het
Greb1l	T	A	18: 10,547,068 (GRCm39)	V1465D	probably damaging	Het
Helz2	A	G	2: 180,882,106 (GRCm39)	V229A	probably benign	Het
Hipk1	A	T	3: 103,654,218 (GRCm39)	L924Q	probably benign	Het
Ifngr1	T	G	10: 19,484,909 (GRCm39)	L303V	possibly damaging	Het
Kif22	T	C	7: 126,630,250 (GRCm39)	N429D	probably benign	Het
Ktn1	T	C	14: 47,914,253 (GRCm39)	Y401H	probably damaging	Het
Lars2	T	G	9: 123,201,053 (GRCm39)	I39S	probably damaging	Het
Lipf	C	T	19: 33,944,244 (GRCm39)	A151V	probably damaging	Het
Lrp1	A	T	10: 127,402,469 (GRCm39)	M2234K	probably damaging	Het
Lrp1b	A	G	2: 40,591,825 (GRCm39)	V56A	unknown	Het
Lyar	T	A	5: 38,391,352 (GRCm39)	H350Q	probably benign	Het
Mill2	A	T	7: 18,590,489 (GRCm39)	M190L	probably benign	Het
Morc3	A	G	16: 93,671,733 (GRCm39)	D921G	probably damaging	Het
Mpp2	G	T	11: 101,950,180 (GRCm39)	T558K	probably benign	Het
Myh4	A	G	11: 67,135,550 (GRCm39)	D379G	probably benign	Het
Neb	A	C	2: 52,084,437 (GRCm39)		probably null	Het
Nedd1	G	A	10: 92,530,962 (GRCm39)	R376*	probably null	Het
Nol10	G	T	12: 17,398,479 (GRCm39)		probably benign	Het
Opn1sw	A	G	6: 29,379,869 (GRCm39)	S122P	probably damaging	Het
Or10j3b	C	T	1: 173,044,067 (GRCm39)	T283I	possibly damaging	Het
Or4f14d	T	G	2: 111,960,881 (GRCm39)	I92L	possibly damaging	Het
Or52h7	C	T	7: 104,213,974 (GRCm39)	T182I	probably benign	Het
Or5an9	C	A	19: 12,187,659 (GRCm39)	A243D	probably damaging	Het
Or5h27	T	A	16: 59,006,454 (GRCm39)	T131S	probably benign	Het
Orm1	T	A	4: 63,262,929 (GRCm39)	I32N	possibly damaging	Het
Pcdhb5	T	A	18: 37,454,628 (GRCm39)	V336E	probably damaging	Het
Poli	C	T	18: 70,650,540 (GRCm39)	R363K	possibly damaging	Het
Rabgap1l	T	C	1: 160,472,893 (GRCm39)	E515G	probably benign	Het
Rem2	C	A	14: 54,715,225 (GRCm39)	T134N	probably damaging	Het
Rfc1	A	G	5: 65,436,892 (GRCm39)	I596T	probably damaging	Het
Ruvbl2	A	T	7: 45,074,433 (GRCm39)	I202N	probably damaging	Het
S100a6	T	A	3: 90,521,186 (GRCm39)	I38N	probably damaging	Het
Scel	T	C	14: 103,829,649 (GRCm39)	C435R	probably benign	Het
Slc6a13	T	A	6: 121,298,587 (GRCm39)	W146R	probably damaging	Het
Sorcs1	T	A	19: 50,178,555 (GRCm39)	K856*	probably null	Het
Speer4e1	T	G	5: 14,987,195 (GRCm39)	K70T	possibly damaging	Het
Sucla2	T	A	14: 73,806,404 (GRCm39)	C158*	probably null	Het
Tie1	G	A	4: 118,341,888 (GRCm39)	S187L	probably benign	Het
Tmem200a	T	C	10: 25,868,905 (GRCm39)	T455A	probably damaging	Het
Tra2a	A	G	6: 49,229,398 (GRCm39)		probably benign	Het
Tsnaxip1	A	C	8: 106,570,819 (GRCm39)	E615A	probably benign	Het
Tuba3b	T	A	6: 145,566,900 (GRCm39)	N380K	probably damaging	Het
Umod	C	T	7: 119,076,046 (GRCm39)	S240N	probably benign	Het
Vmn2r92	G	A	17: 18,388,305 (GRCm39)		probably null	Het
Vps13b	A	G	15: 35,671,462 (GRCm39)	E1655G	probably damaging	Het
Vwde	A	T	6: 13,219,935 (GRCm39)	I72N	probably damaging	Het
Wbp11	G	A	6: 136,798,533 (GRCm39)	A172V	probably damaging	Het
Zbtb41	T	A	1: 139,351,770 (GRCm39)	N294K	probably benign	Het
Zfhx4	T	A	3: 5,462,019 (GRCm39)	H1206Q	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
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
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'- TGAAGAAGACTAATCTGAACCCCTTC -3'
(R):5'- GGCCTTGAGCTTTGAGATGC -3'

Posted On

2017-07-14