Incidental Mutation 'R3861:Nlrc4'
ID 276376
Institutional Source Beutler Lab
Gene Symbol Nlrc4
Ensembl Gene ENSMUSG00000039193
Gene Name NLR family, CARD domain containing 4
Synonyms 9530011P19Rik, Card12, Ipaf
MMRRC Submission 040788-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R3861 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 74733254-74766140 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74752616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 589 (E589G)
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: E589G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000059637
Gene: ENSMUSG00000039193
AA Change: E589G

DomainStartEndE-ValueType
Pfam:CARD 1 87 1.4e-20 PFAM
Pfam:NACHT 163 314 1.3e-28 PFAM
SCOP:d1yrga_ 734 1015 3e-20 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (55/55)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik G A 12: 18,583,411 (GRCm39) S157N probably benign Het
A830018L16Rik T C 1: 11,658,778 (GRCm39) probably benign Het
Akip1 C T 7: 109,306,613 (GRCm39) probably benign Het
Anxa5 T C 3: 36,504,807 (GRCm39) T252A probably benign Het
Arhgef10l A G 4: 140,242,798 (GRCm39) F1072L possibly damaging Het
Armc1 C T 3: 19,189,196 (GRCm39) R186Q probably damaging Het
Atxn2l A T 7: 126,101,123 (GRCm39) probably null Het
Cadps2 A G 6: 23,355,860 (GRCm39) I849T probably damaging Het
Ccdc28a T A 10: 18,100,743 (GRCm39) Q28L probably damaging Het
Cdh4 T A 2: 179,515,890 (GRCm39) V356D probably damaging Het
Chd8 T A 14: 52,474,578 (GRCm39) Q151L probably benign Het
Chgb T A 2: 132,635,064 (GRCm39) H335Q probably damaging Het
Col19a1 G A 1: 24,365,098 (GRCm39) P506S probably damaging Het
Col5a2 T C 1: 45,419,397 (GRCm39) T1228A probably damaging Het
Cpxm2 A G 7: 131,656,648 (GRCm39) V538A probably benign Het
Cramp1 A T 17: 25,216,588 (GRCm39) probably benign Het
Cttnbp2 T C 6: 18,423,832 (GRCm39) R831G probably benign Het
Cyp4f17 A G 17: 32,747,078 (GRCm39) D436G probably damaging Het
Dcaf6 A T 1: 165,256,838 (GRCm39) N48K probably damaging Het
Ddx50 C A 10: 62,478,725 (GRCm39) V154L possibly damaging Het
Dnah9 T C 11: 65,943,820 (GRCm39) probably benign Het
Dnm3 T A 1: 162,138,974 (GRCm39) I395L possibly damaging Het
Elp2 C T 18: 24,739,977 (GRCm39) R68C probably benign Het
Frg1 A T 8: 41,860,820 (GRCm39) probably null Het
Fsip2 G T 2: 82,815,120 (GRCm39) D3618Y probably damaging Het
Gabra2 T C 5: 71,130,886 (GRCm39) D314G probably damaging Het
Gramd1a A C 7: 30,835,365 (GRCm39) D407E possibly damaging Het
Grm5 T A 7: 87,779,202 (GRCm39) S881T possibly damaging Het
Ikbkb T A 8: 23,168,852 (GRCm39) I216F possibly damaging Het
Kif3a T C 11: 53,488,805 (GRCm39) V634A probably benign Het
Ltbp1 A T 17: 75,666,333 (GRCm39) Y1342F possibly damaging Het
Mia2 G T 12: 59,155,807 (GRCm39) V508L probably benign Het
Mtus2 C T 5: 148,250,223 (GRCm39) T155M probably damaging Het
Napepld A T 5: 21,888,287 (GRCm39) V54E probably benign Het
Nphp3 G T 9: 103,916,525 (GRCm39) probably benign Het
Nr2f1 T A 13: 78,343,794 (GRCm39) R10* probably null Het
Nsfl1c C A 2: 151,352,824 (GRCm39) probably null Het
Or14a258 A G 7: 86,035,331 (GRCm39) V179A possibly damaging Het
Pcdhgc3 A G 18: 37,941,581 (GRCm39) T661A probably damaging Het
Pdzrn3 A G 6: 101,149,332 (GRCm39) V332A possibly damaging Het
Pip4p2 A G 4: 14,902,506 (GRCm39) N169S probably damaging Het
Pkhd1 C T 1: 20,271,151 (GRCm39) C3134Y probably damaging Het
Ptprz1 T C 6: 23,036,894 (GRCm39) V1131A probably damaging Het
Rccd1 T C 7: 79,970,116 (GRCm39) E167G probably benign Het
Ror1 T C 4: 100,265,120 (GRCm39) I198T possibly damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Scly C T 1: 91,230,573 (GRCm39) probably benign Het
Scn4a T C 11: 106,216,950 (GRCm39) probably benign Het
Sh3rf2 T C 18: 42,286,384 (GRCm39) S594P probably damaging Het
Slc19a1 G A 10: 76,877,809 (GRCm39) V115M possibly damaging Het
Slc26a6 A T 9: 108,731,395 (GRCm39) probably benign Het
Smg7 C T 1: 152,728,349 (GRCm39) R439K probably null Het
Spata31e3 T C 13: 50,400,887 (GRCm39) K480E probably benign Het
Syne2 A G 12: 76,013,253 (GRCm39) R2815G probably damaging Het
Trim75 G A 8: 65,435,479 (GRCm39) R324C probably damaging Het
Ucp3 T C 7: 100,129,458 (GRCm39) S98P probably benign Het
Zscan29 G C 2: 120,991,212 (GRCm39) R859G probably benign Het
Other mutations in Nlrc4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGTCTTGAATTCCTGCTTCCAG -3'
(R):5'- TCTCTGGAGGCAGGAATCAATC -3'

Sequencing Primer
(F):5'- CAAAGACACAGCCCTGGGG -3'
(R):5'- TCCAGAGTCTGAGAAATACCACTGAG -3'
Posted On 2015-04-06