Mutagenetix > Incidental Mutation

Incidental Mutation 'R7417:Nlrc4'

575416

Institutional Source

Beutler Lab

Gene Symbol

Nlrc4

Ensembl Gene

ENSMUSG00000039193

Gene Name

NLR family, CARD domain containing 4

Synonyms

9530011P19Rik, Card12, Ipaf

MMRRC Submission

045495-MU

Accession Numbers

Essential gene?

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

Stock #

R7417 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74733254-74766140 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74753483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 300 (M300T)

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: M300T

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000059637
Gene: ENSMUSG00000039193
AA Change: M300T

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: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	G	A	17: 48,460,057 (GRCm39)	T213I	probably damaging	Het
Akr1b7	G	A	6: 34,394,300 (GRCm39)		probably null	Het
Aldh6a1	T	C	12: 84,488,556 (GRCm39)	Q110R	probably benign	Het
Alg11	A	T	8: 22,552,044 (GRCm39)	T63S	probably benign	Het
Ankrd13b	A	G	11: 77,367,020 (GRCm39)	Y271H	probably damaging	Het
Ano8	T	A	8: 71,933,477 (GRCm39)	D605V	unknown	Het
Best2	C	T	8: 85,736,295 (GRCm39)		probably null	Het
Brca1	A	G	11: 101,415,807 (GRCm39)	S776P	probably damaging	Het
Capn7	T	C	14: 31,092,663 (GRCm39)	Y737H	probably damaging	Het
Cblc	A	T	7: 19,522,899 (GRCm39)	S333T	probably benign	Het
Ccm2	T	A	11: 6,543,091 (GRCm39)	M257K	probably benign	Het
Cd320	T	A	17: 34,066,530 (GRCm39)	C103*	probably null	Het
Cd53	A	G	3: 106,676,235 (GRCm39)	F44S	probably benign	Het
Col9a2	G	A	4: 120,911,489 (GRCm39)	R610H	not run	Het
Cubn	T	C	2: 13,431,778 (GRCm39)	I1272V	probably benign	Het
Cyp2j7	C	T	4: 96,090,225 (GRCm39)		probably null	Het
Dmrt2	A	T	19: 25,655,962 (GRCm39)	R520S	probably benign	Het
Dnai3	A	T	3: 145,798,835 (GRCm39)		probably null	Het
Drg2	A	G	11: 60,345,506 (GRCm39)	M1V	probably null	Het
Ect2	A	G	3: 27,152,568 (GRCm39)	S908P	probably damaging	Het
Eipr1	A	G	12: 28,916,954 (GRCm39)	T341A	probably benign	Het
Ell3	A	C	2: 121,270,891 (GRCm39)	I214R	probably benign	Het
Emsy	A	T	7: 98,264,693 (GRCm39)	L568Q	probably damaging	Het
Foxd4	T	C	19: 24,877,826 (GRCm39)	T125A	probably damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Gcsam	C	A	16: 45,440,240 (GRCm39)	H94Q	probably damaging	Het
Ginm1	T	A	10: 7,649,844 (GRCm39)	I150F	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hk2	G	A	6: 82,720,326 (GRCm39)	A205V	probably damaging	Het
Il3ra	A	T	14: 14,349,345 (GRCm38)	H147L	probably benign	Het
Map3k6	T	A	4: 132,975,707 (GRCm39)	S732T	probably benign	Het
Masp2	A	G	4: 148,690,178 (GRCm39)	E229G	probably benign	Het
Mccc2	A	G	13: 100,108,285 (GRCm39)		probably null	Het
Mia3	A	G	1: 183,108,508 (GRCm39)	V359A		Het
Mob1a	A	T	6: 83,309,492 (GRCm39)	T80S	probably benign	Het
Msantd2	G	A	9: 37,434,590 (GRCm39)	G478S	probably damaging	Het
Mtf1	A	G	4: 124,718,974 (GRCm39)	E329G	probably null	Het
Myh9	T	A	15: 77,648,065 (GRCm39)	K1804*	probably null	Het
Ndst3	A	G	3: 123,465,313 (GRCm39)	W220R	probably damaging	Het
Nln	A	G	13: 104,173,478 (GRCm39)	L576P	probably damaging	Het
Obscn	G	T	11: 59,020,403 (GRCm39)	D880E	possibly damaging	Het
Oprd1	T	C	4: 131,844,763 (GRCm39)	T82A	probably damaging	Het
Or2n1d	T	A	17: 38,646,183 (GRCm39)	I45N	probably damaging	Het
Or4f60	A	C	2: 111,902,445 (GRCm39)	V161G	probably benign	Het
Orc3	A	G	4: 34,595,136 (GRCm39)	C278R	probably damaging	Het
Pde4d	T	A	13: 109,769,322 (GRCm39)		probably null	Het
Pms1	T	C	1: 53,236,231 (GRCm39)	E683G	probably benign	Het
Prdm2	A	T	4: 142,905,869 (GRCm39)	Y73N	probably damaging	Het
Prkaa2	T	C	4: 104,932,740 (GRCm39)	Q36R	probably benign	Het
Psg22	A	G	7: 18,456,891 (GRCm39)	E258G	probably damaging	Het
Ptprf	T	C	4: 118,069,369 (GRCm39)	D1566G	probably damaging	Het
Rfwd3	T	A	8: 111,999,701 (GRCm39)	Y759F	probably benign	Het
Ripor2	A	G	13: 24,880,533 (GRCm39)	D411G	probably damaging	Het
Ryr2	A	C	13: 11,571,634 (GRCm39)		probably null	Het
Sdr42e1	T	C	8: 118,389,490 (GRCm39)	T384A	probably benign	Het
Sec1	A	T	7: 45,334,149 (GRCm39)		probably null	Het
Sec16a	A	T	2: 26,311,409 (GRCm39)	F616I		Het
Sipa1l2	T	C	8: 126,208,845 (GRCm39)	D521G	possibly damaging	Het
Smc1b	T	A	15: 84,981,743 (GRCm39)	Q759L	probably benign	Het
Snph	A	T	2: 151,442,263 (GRCm39)	S57R	probably damaging	Het
Sqor	A	T	2: 122,629,450 (GRCm39)	T103S	probably benign	Het
Srbd1	A	G	17: 86,443,749 (GRCm39)	V159A	probably benign	Het
Srsf2	A	T	11: 116,743,727 (GRCm39)	V10E	probably damaging	Het
Swap70	T	A	7: 109,863,316 (GRCm39)		probably null	Het
Synm	A	C	7: 67,382,954 (GRCm39)	*675G	probably null	Het
Tek	A	G	4: 94,699,582 (GRCm39)	E320G	probably benign	Het
Tenm3	T	C	8: 48,689,218 (GRCm39)	D2123G	probably damaging	Het
Tmod4	A	G	3: 95,033,174 (GRCm39)	K56R	possibly damaging	Het
Top3b	G	A	16: 16,695,714 (GRCm39)		probably benign	Het
Tssc4	G	T	7: 142,624,425 (GRCm39)	E244D	possibly damaging	Het
Twnk	G	A	19: 44,999,003 (GRCm39)		probably null	Het
Ube4a	A	C	9: 44,868,011 (GRCm39)	I45S	probably benign	Het
Unc79	A	T	12: 103,055,017 (GRCm39)	M954L	possibly damaging	Het
Vcpip1	A	T	1: 9,816,540 (GRCm39)	D614E	probably benign	Het
Vmn1r45	T	A	6: 89,910,035 (GRCm39)	I312L	probably benign	Het
Vmn1r77	A	G	7: 11,775,611 (GRCm39)	Y129C	probably damaging	Het
Zer1	A	G	2: 29,992,834 (GRCm39)	L600P	probably damaging	Het
Zfp266	T	C	9: 20,412,232 (GRCm39)	T114A	probably benign	Het
Zrsr2-ps1	T	C	11: 22,924,662 (GRCm39)		probably null	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
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'- AGCTTGGAATTCCTGTCTGCC -3'
(R):5'- TACCCGACTTCATCAGCAAG -3'

Sequencing Primer
(F):5'- TGCCCATCTGAATTGCACAGG -3'
(R):5'- CTTCAAGGCTCTGCTGCTGAAG -3'

Posted On

2019-10-07