Incidental Mutation 'R6976:Nlrc4'
ID 542482
Institutional Source Beutler Lab
Gene Symbol Nlrc4
Ensembl Gene ENSMUSG00000039193
Gene Name NLR family, CARD domain containing 4
Synonyms 9530011P19Rik, Card12, Ipaf
MMRRC Submission 045382-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R6976 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 74733254-74766140 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74752934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 483 (I483T)
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: I483T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059637
Gene: ENSMUSG00000039193
AA Change: I483T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,397,929 (GRCm39) probably null Het
Adamts4 G T 1: 171,079,877 (GRCm39) probably benign Het
Adgrv1 T A 13: 81,669,116 (GRCm39) K2480M probably damaging Het
Ankhd1 A C 18: 36,781,307 (GRCm39) S2120R probably benign Het
Ash1l T A 3: 88,888,964 (GRCm39) V281E possibly damaging Het
Bdh1 G A 16: 31,256,847 (GRCm39) A35T probably benign Het
Brpf3 A G 17: 29,054,751 (GRCm39) M1098V probably damaging Het
Cel G A 2: 28,446,854 (GRCm39) S439F probably damaging Het
Dnah11 T C 12: 118,162,378 (GRCm39) S64G probably benign Het
Dpp7 T C 2: 25,244,836 (GRCm39) probably null Het
Fam83c T A 2: 155,672,157 (GRCm39) Y426F possibly damaging Het
Fasn A G 11: 120,710,693 (GRCm39) I322T probably damaging Het
Glod4 A G 11: 76,134,406 (GRCm39) F22S probably damaging Het
Gm3127 A G 14: 15,432,190 (GRCm39) T231A possibly damaging Het
Gm49383 A G 12: 69,243,730 (GRCm39) S444P possibly damaging Het
Gnaz T C 10: 74,827,268 (GRCm39) S7P possibly damaging Het
Grin2b C T 6: 135,757,198 (GRCm39) S421N probably benign Het
Grm1 T C 10: 10,564,924 (GRCm39) D1128G probably benign Het
Hoxb13 A G 11: 96,087,044 (GRCm39) T284A probably benign Het
Il9r G A 11: 32,143,177 (GRCm39) Q260* probably null Het
Lrrfip1 T A 1: 91,042,737 (GRCm39) C381S probably benign Het
Mitd1 A T 1: 37,921,778 (GRCm39) D85E probably benign Het
Muc4 G A 16: 32,582,892 (GRCm39) D2556N possibly damaging Het
Or13e8 A G 4: 43,697,170 (GRCm39) M1T probably null Het
Or2ag17 A T 7: 106,389,434 (GRCm39) M258K probably damaging Het
Or8g4 A G 9: 39,662,540 (GRCm39) N286S probably damaging Het
Pcdhb7 C A 18: 37,476,631 (GRCm39) A589E probably benign Het
Pcdhgb5 G A 18: 37,864,321 (GRCm39) E39K probably damaging Het
Pja2 T C 17: 64,615,954 (GRCm39) K314E probably damaging Het
Plcb1 A G 2: 135,104,159 (GRCm39) E276G possibly damaging Het
Ppp2r5c A G 12: 110,510,579 (GRCm39) E122G probably damaging Het
Prrc2c A T 1: 162,520,413 (GRCm39) N732K probably damaging Het
Rb1cc1 T A 1: 6,333,126 (GRCm39) D1348E probably benign Het
Sh3rf1 G T 8: 61,814,766 (GRCm39) E442* probably null Het
Snapc1 A G 12: 74,016,974 (GRCm39) D204G probably damaging Het
Sry C T Y: 2,662,938 (GRCm39) D241N unknown Het
Strn4 T A 7: 16,564,279 (GRCm39) M303K probably benign Het
Tas2r118 A G 6: 23,969,470 (GRCm39) I197T probably benign Het
Tnni3k A G 3: 154,498,413 (GRCm39) Y809H probably benign Het
Tnpo3 A T 6: 29,572,594 (GRCm39) C419* probably null Het
Trpm6 T C 19: 18,760,527 (GRCm39) S143P probably benign Het
Ttc23l A T 15: 10,537,666 (GRCm39) C201* probably null Het
Ubr4 A G 4: 139,120,388 (GRCm39) N271S probably damaging Het
Vmn1r70 T C 7: 10,367,971 (GRCm39) M134T probably benign Het
Vmn2r27 C T 6: 124,201,312 (GRCm39) W215* probably null Het
Xirp1 A T 9: 119,846,984 (GRCm39) M633K probably damaging Het
Zfp174 T C 16: 3,665,804 (GRCm39) I23T possibly damaging Het
Zfp536 T A 7: 37,179,828 (GRCm39) S926C probably damaging Het
Zfp943 T C 17: 22,209,922 (GRCm39) S65P possibly damaging 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
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
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'- GATGCCACACTCTACGAAGG -3'
(R):5'- TCCTCTGTAAGTACACAGCTCAG -3'

Sequencing Primer
(F):5'- TCAGAACATCTTGCTCAGTGG -3'
(R):5'- GACTCAGCAGTTTGCTGA -3'
Posted On 2018-11-28