Mutagenetix > Incidental Mutation

Incidental Mutation 'R1988:Nlrc4'

222928

Institutional Source

Beutler Lab

Gene Symbol

Nlrc4

Ensembl Gene

ENSMUSG00000039193

Gene Name

NLR family, CARD domain containing 4

Synonyms

Card12, Ipaf, 9530011P19Rik

MMRRC Submission

040000-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R1988 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74426295-74459108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74426943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 992 (S992T)

Ref Sequence

ENSEMBL: ENSMUSP00000059637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024870] [ENSMUST00000052124] [ENSMUST00000179074]

AlphaFold

Q3UP24

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000024870

SMART Domains

Protein: ENSMUSP00000024870
Gene: ENSMUSG00000024069

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	34	336	6.9e-45	PFAM
low complexity region	371	392	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000052124
AA Change: S992T

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000059637
Gene: ENSMUSG00000039193
AA Change: S992T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000179074

SMART Domains

Protein: ENSMUSP00000136503
Gene: ENSMUSG00000024069

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	34	260	5.7e-30	PFAM
low complexity region	376	397	N/A	INTRINSIC

Meta Mutation Damage Score

0.0933

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

96% (79/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,952,896	D216V	possibly damaging	Het
2610021A01Rik	C	T	7: 41,626,657	R595*	probably null	Het
Adgrl3	A	G	5: 81,688,567	D724G	probably damaging	Het
Akap6	T	C	12: 53,140,795	F1664S	possibly damaging	Het
Akt1	T	C	12: 112,655,151	I404V	probably benign	Het
Anxa13	T	A	15: 58,341,948		noncoding transcript	Het
Atoh1	T	C	6: 64,729,633	V104A	probably benign	Het
Brwd1	T	C	16: 96,021,237	D1256G	probably damaging	Het
C9	ATTTT	ATTT	15: 6,483,138		probably null	Het
Cd164	A	G	10: 41,523,181	T89A	probably benign	Het
Cep350	G	C	1: 155,933,104	N575K	possibly damaging	Het
Chrm5	A	G	2: 112,480,252	V173A	probably damaging	Het
Cnot1	A	G	8: 95,741,944	V1417A	possibly damaging	Het
Cntnap3	T	C	13: 64,758,390	T801A	probably damaging	Het
Cntnap5b	A	C	1: 100,072,140	K208Q	possibly damaging	Het
Crx	A	T	7: 15,869,347	V107D	possibly damaging	Het
Csrnp2	A	G	15: 100,489,440	F49S	probably damaging	Het
Ctbp1	A	G	5: 33,250,904	L228P	possibly damaging	Het
Ctdp1	A	T	18: 80,449,401	D626E	possibly damaging	Het
Cyp1a2	T	C	9: 57,682,286	T82A	possibly damaging	Het
Dnah3	T	A	7: 119,967,570	T2478S	possibly damaging	Het
Dnah3	T	G	7: 119,967,959	D2348A	probably damaging	Het
Dnah5	T	C	15: 28,343,591	I2379T	probably damaging	Het
Dnah6	A	G	6: 73,092,192	I2504T	probably damaging	Het
Dnase1l2	A	C	17: 24,441,651	W138G	probably damaging	Het
Dopey2	T	A	16: 93,766,173	I855N	probably damaging	Het
Dsc3	T	A	18: 19,965,846	N759Y	possibly damaging	Het
Dtx2	C	T	5: 136,032,293	R510*	probably null	Het
Fat4	G	T	3: 38,887,115	M52I	probably benign	Het
Fat4	G	A	3: 38,996,090	E4034K	probably damaging	Het
Fezf2	T	C	14: 12,344,350	K279R	probably damaging	Het
Fsip2	G	T	2: 82,976,517	W1060L	possibly damaging	Het
G6pc	T	A	11: 101,367,942	I49N	probably damaging	Het
Gars	A	G	6: 55,077,772	E688G	probably null	Het
Gdf11	T	C	10: 128,885,242	N361S	probably benign	Het
Gli3	A	C	13: 15,726,380	M1451L	probably benign	Het
Heatr3	T	C	8: 88,150,317	I329T	probably benign	Het
Herc3	T	G	6: 58,884,975		probably null	Het
Hrnr	A	G	3: 93,332,604	N3383S	unknown	Het
Igsf3	A	T	3: 101,431,296	I309F	probably benign	Het
Kif21b	C	T	1: 136,152,264	R513W	probably damaging	Het
Kif7	G	T	7: 79,699,241	H1195Q	probably benign	Het
Lpcat4	T	C	2: 112,242,542	V182A	possibly damaging	Het
Map3k21	T	A	8: 125,927,555	I371N	probably benign	Het
Mns1	G	A	9: 72,448,759		probably null	Het
Myo3a	A	G	2: 22,578,128	T465A	possibly damaging	Het
Notch4	G	A	17: 34,587,588	G1833E	possibly damaging	Het
Olfr160	A	T	9: 37,711,697	I194K	possibly damaging	Het
Olfr467	A	T	7: 107,814,700	I39L	probably benign	Het
Olfr600	T	A	7: 103,346,109	Y273F	possibly damaging	Het
Olfr666	T	C	7: 104,892,903	T242A	probably damaging	Het
Olfr998	G	A	2: 85,590,641	V34I	probably benign	Het
Pcdh9	G	A	14: 93,888,305	P143L	probably damaging	Het
Pik3cd	T	A	4: 149,663,203	T28S	probably damaging	Het
Pkd1	G	T	17: 24,576,592		probably null	Het
Plk4	A	T	3: 40,805,817	S383C	possibly damaging	Het
Plxna2	T	C	1: 194,643,989	L77P	probably damaging	Het
Ppm1f	T	C	16: 16,923,666	S335P	probably damaging	Het
Prr16	C	T	18: 51,303,277	P276L	probably damaging	Het
Rilp	A	G	11: 75,510,933		probably null	Het
Rspry1	A	G	8: 94,632,054		probably null	Het
Serpinb9b	T	C	13: 33,029,559	V33A	probably benign	Het
Slc4a10	C	A	2: 62,268,204	Q561K	probably damaging	Het
Smyd5	T	C	6: 85,438,136	I42T	possibly damaging	Het
Stk17b	T	C	1: 53,761,082	N246D	probably damaging	Het
Suco	T	C	1: 161,818,811		probably null	Het
Tcrg-C3	C	A	13: 19,260,994	F37L	probably damaging	Het
Tecpr1	C	T	5: 144,204,697	V785M	possibly damaging	Het
Telo2	C	T	17: 25,101,668	V756I	probably benign	Het
Tgm1	C	T	14: 55,705,577	R602H	probably benign	Het
Timeless	A	G	10: 128,244,187	T402A	probably damaging	Het
Tnfaip2	T	A	12: 111,449,891		probably null	Het
Trim5	A	G	7: 104,265,621	S414P	probably damaging	Het
Txnip	A	G	3: 96,559,750	T247A	possibly damaging	Het
Vmn1r174	A	T	7: 23,754,625	T239S	probably damaging	Het
Vmn1r231	T	A	17: 20,889,950	E234D	probably damaging	Het
Zranb3	A	T	1: 127,959,743	N982K	probably benign	Het

Other mutations in Nlrc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Nlrc4	APN	17	74446534	missense	probably benign	0.02
IGL00427:Nlrc4	APN	17	74447092	missense	probably benign
IGL00823:Nlrc4	APN	17	74447990	missense	probably benign	0.01
IGL01404:Nlrc4	APN	17	74445711	missense	probably damaging	1.00
IGL02178:Nlrc4	APN	17	74446843	missense	probably damaging	1.00
IGL02266:Nlrc4	APN	17	74446167	missense	possibly damaging	0.72
IGL03342:Nlrc4	APN	17	74445318	missense	probably damaging	1.00
Inwood	UTSW	17	74445630	missense	probably damaging	1.00
PIT4305001:Nlrc4	UTSW	17	74446309	missense	probably damaging	0.99
PIT4466001:Nlrc4	UTSW	17	74427119	missense	probably benign	0.01
R0077:Nlrc4	UTSW	17	74446831	missense	probably damaging	1.00
R0398:Nlrc4	UTSW	17	74445920	missense	probably damaging	0.99
R0639:Nlrc4	UTSW	17	74426963	missense	probably benign	0.16
R1498:Nlrc4	UTSW	17	74446413	missense	probably benign	0.43
R1565:Nlrc4	UTSW	17	74441931	missense	probably benign	0.00
R1624:Nlrc4	UTSW	17	74445189	missense	possibly damaging	0.55
R1666:Nlrc4	UTSW	17	74445906	missense	probably damaging	0.97
R1668:Nlrc4	UTSW	17	74445906	missense	probably damaging	0.97
R1690:Nlrc4	UTSW	17	74437523	nonsense	probably null
R1723:Nlrc4	UTSW	17	74441908	missense	probably damaging	1.00
R1992:Nlrc4	UTSW	17	74445633	missense	probably benign	0.04
R2141:Nlrc4	UTSW	17	74447951	splice site	probably benign
R2256:Nlrc4	UTSW	17	74445630	missense	probably damaging	1.00
R2897:Nlrc4	UTSW	17	74448045	missense	probably benign
R3117:Nlrc4	UTSW	17	74436068	missense	probably benign	0.00
R3861:Nlrc4	UTSW	17	74445621	missense	probably benign	0.00
R4093:Nlrc4	UTSW	17	74445958	missense	probably benign	0.20
R4212:Nlrc4	UTSW	17	74447115	missense	possibly damaging	0.66
R4627:Nlrc4	UTSW	17	74446628	missense	probably damaging	1.00
R4859:Nlrc4	UTSW	17	74436037	missense	probably damaging	0.97
R4968:Nlrc4	UTSW	17	74446941	missense	probably benign	0.20
R5133:Nlrc4	UTSW	17	74446717	missense	possibly damaging	0.91
R5379:Nlrc4	UTSW	17	74448083	nonsense	probably null
R6045:Nlrc4	UTSW	17	74446959	missense	probably damaging	0.98
R6654:Nlrc4	UTSW	17	74445528	missense	possibly damaging	0.55
R6712:Nlrc4	UTSW	17	74446836	missense	probably damaging	0.96
R6976:Nlrc4	UTSW	17	74445939	missense	probably damaging	1.00
R7030:Nlrc4	UTSW	17	74446006	missense	probably damaging	1.00
R7153:Nlrc4	UTSW	17	74447103	missense	possibly damaging	0.84
R7190:Nlrc4	UTSW	17	74445203	missense	probably damaging	1.00
R7398:Nlrc4	UTSW	17	74446542	missense	probably damaging	1.00
R7417:Nlrc4	UTSW	17	74446488	missense	probably benign	0.18
R7468:Nlrc4	UTSW	17	74445512	missense	probably benign	0.00
R7639:Nlrc4	UTSW	17	74447957	critical splice donor site	probably null
R7716:Nlrc4	UTSW	17	74446656	missense	probably damaging	1.00
R7757:Nlrc4	UTSW	17	74448196	missense	probably benign	0.00
R7868:Nlrc4	UTSW	17	74448052	missense	possibly damaging	0.75
R7890:Nlrc4	UTSW	17	74437508	missense	probably benign	0.00
R7920:Nlrc4	UTSW	17	74427119	missense	probably benign	0.01
R7950:Nlrc4	UTSW	17	74445615	missense	probably damaging	1.00
R8154:Nlrc4	UTSW	17	74445909	missense	probably damaging	1.00
R8168:Nlrc4	UTSW	17	74445211	missense	probably benign	0.01
R8311:Nlrc4	UTSW	17	74446545	missense	probably damaging	1.00
R8716:Nlrc4	UTSW	17	74445990	missense	probably damaging	1.00
R9502:Nlrc4	UTSW	17	74445585	missense	probably benign	0.37
R9514:Nlrc4	UTSW	17	74446741	missense	probably benign	0.03
X0026:Nlrc4	UTSW	17	74446643	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACTCGTTTCTCAAGCCAATTCC -3'
(R):5'- GAGAGACTTGCAGCAGTTGG -3'

Sequencing Primer
(F):5'- AATGTTGGATCCCCTGGAAC -3'
(R):5'- AGACTTGCAGCAGTTGGATTTAGC -3'

Posted On

2014-08-25