Incidental Mutation 'R4212:Nlrc4'
ID 319278
Institutional Source Beutler Lab
Gene Symbol Nlrc4
Ensembl Gene ENSMUSG00000039193
Gene Name NLR family, CARD domain containing 4
Synonyms 9530011P19Rik, Card12, Ipaf
MMRRC Submission 041641-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R4212 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 74733254-74766140 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74754110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 91 (Y91C)
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 possibly damaging
Transcript: ENSMUST00000052124
AA Change: Y91C

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000059637
Gene: ENSMUSG00000039193
AA Change: Y91C

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg G T 15: 60,791,585 (GRCm39) L284M possibly damaging Het
Adamts15 A G 9: 30,817,470 (GRCm39) V536A probably damaging Het
Arsi A T 18: 61,049,773 (GRCm39) I219F probably damaging Het
Atg7 G A 6: 114,680,386 (GRCm39) G447E probably benign Het
Bdp1 T A 13: 100,196,093 (GRCm39) H1223L probably benign Het
Cep152 A G 2: 125,461,921 (GRCm39) M87T probably benign Het
Chrm3 T C 13: 9,927,791 (GRCm39) D415G probably benign Het
Chrnb2 A T 3: 89,668,851 (GRCm39) C155S probably damaging Het
Col6a4 T A 9: 105,952,569 (GRCm39) Q443L probably benign Het
Ct45a C T X: 55,590,568 (GRCm39) V78I probably benign Het
D5Ertd579e A T 5: 36,771,823 (GRCm39) D857E probably damaging Het
Efcab6 T C 15: 83,777,064 (GRCm39) D1124G probably damaging Het
F830045P16Rik C T 2: 129,302,273 (GRCm39) A440T probably benign Het
Gc T C 5: 89,583,434 (GRCm39) K370E probably benign Het
Gm11559 A G 11: 99,755,726 (GRCm39) Q125R unknown Het
Gm3985 A T 8: 33,432,484 (GRCm39) noncoding transcript Het
Gucy2e A G 11: 69,118,949 (GRCm39) F681S probably damaging Het
Hip1r A G 5: 124,137,953 (GRCm39) I760V probably benign Het
Islr2 C T 9: 58,106,603 (GRCm39) G219D probably damaging Het
Itgae A G 11: 73,010,178 (GRCm39) H556R probably benign Het
Jag1 T C 2: 136,926,990 (GRCm39) D923G probably benign Het
Kmt2c A G 5: 25,552,357 (GRCm39) probably null Het
Kmt2d A G 15: 98,742,884 (GRCm39) probably benign Het
Krtap17-1 A G 11: 99,884,740 (GRCm39) L9P unknown Het
Lats2 C T 14: 57,933,712 (GRCm39) D802N possibly damaging Het
Lrfn5 A T 12: 61,890,606 (GRCm39) T632S probably benign Het
Myo9a C T 9: 59,813,349 (GRCm39) R2183* probably null Het
Myorg T C 4: 41,498,307 (GRCm39) E441G probably benign Het
Naip1 T C 13: 100,563,383 (GRCm39) probably null Het
Nf1 T A 11: 79,360,624 (GRCm39) V1434E probably damaging Het
Or4l1 A T 14: 50,166,346 (GRCm39) Y218* probably null Het
Or5b102 T G 19: 13,041,123 (GRCm39) M116R probably damaging Het
Or5k1 T A 16: 58,617,732 (GRCm39) H159L possibly damaging Het
Pard3 T A 8: 128,336,939 (GRCm39) I1143K probably benign Het
Pcdha7 A G 18: 37,108,027 (GRCm39) T351A probably benign Het
Phf2 C A 13: 48,974,089 (GRCm39) G318V unknown Het
Plch1 T A 3: 63,778,180 (GRCm39) probably benign Het
Polr1c A G 17: 46,557,046 (GRCm39) I79T probably damaging Het
Ppp2r5e A G 12: 75,516,325 (GRCm39) I244T probably damaging Het
Psmd12 T C 11: 107,376,585 (GRCm39) C74R probably damaging Het
Qng1 C T 13: 58,529,805 (GRCm39) G269E probably damaging Het
Ralgapa1 A G 12: 55,786,115 (GRCm39) probably null Het
Robo3 C T 9: 37,333,194 (GRCm39) G781D probably damaging Het
Scn8a T C 15: 100,854,954 (GRCm39) V147A possibly damaging Het
Sema3b C T 9: 107,480,597 (GRCm39) V117M probably damaging Het
Sfxn5 A T 6: 85,309,288 (GRCm39) L139* probably null Het
Slc2a12 A T 10: 22,577,993 (GRCm39) K596N probably benign Het
Sorcs1 G A 19: 50,213,613 (GRCm39) R705C probably damaging Het
Spata31e4 C T 13: 50,854,388 (GRCm39) T82I possibly damaging Het
Tlr4 T A 4: 66,758,563 (GRCm39) I452N probably damaging Het
Tshz3 A G 7: 36,469,544 (GRCm39) D511G probably damaging Het
Usp44 A G 10: 93,682,632 (GRCm39) K314E 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
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'- ATGACGATGGTCCTTCTTCC -3'
(R):5'- AATTTGCAGCTGTCATGATGG -3'

Sequencing Primer
(F):5'- CTTCCACATGATAGGTTCTGTGAAG -3'
(R):5'- CAGCTGTCATGATGGCAAGAAAAAG -3'
Posted On 2015-06-10