Incidental Mutation 'IGL03342:Nlrc4'
ID417271
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nlrc4
Ensembl Gene ENSMUSG00000039193
Gene NameNLR family, CARD domain containing 4
SynonymsCard12, Ipaf, 9530011P19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.143) question?
Stock #IGL03342
Quality Score
Status
Chromosome17
Chromosomal Location74426295-74459108 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 74445318 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 690 (L690P)
Ref Sequence ENSEMBL: ENSMUSP00000059637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052124]
PDB Structure
Crystal structure of NLRC4 reveals its autoinhibition mechanism [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000052124
AA Change: L690P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059637
Gene: ENSMUSG00000039193
AA Change: L690P

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
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,287,691 T1152M possibly damaging Het
Abcg2 G T 6: 58,665,135 R136I probably damaging Het
Acap2 A G 16: 31,105,492 V641A probably damaging Het
Afg3l2 A T 18: 67,407,320 D706E probably benign Het
Bbs1 A T 19: 4,897,593 L311Q probably damaging Het
Cacna1e A G 1: 154,466,944 probably null Het
Car2 A T 3: 14,895,569 D129V probably benign Het
Catsper2 T C 2: 121,406,736 I228V probably damaging Het
Cdhr3 C A 12: 33,051,055 R452M probably benign Het
Chrm1 A T 19: 8,679,308 Q459L probably benign Het
Cnbd1 C T 4: 19,098,264 probably benign Het
Coa7 A G 4: 108,332,229 D42G probably damaging Het
Ctsz T C 2: 174,429,140 Y187C possibly damaging Het
Cxcr6 C T 9: 123,810,407 Q165* probably null Het
Cyp3a11 G A 5: 145,855,117 P489S probably damaging Het
Cyp4f15 A T 17: 32,697,936 I276F probably damaging Het
Dsg1b T A 18: 20,409,460 M1008K probably benign Het
Dsg4 T A 18: 20,451,823 I198N probably damaging Het
Dtymk C A 1: 93,794,819 E87D probably benign Het
Dysf T A 6: 84,190,872 D1749E probably benign Het
Dzip3 G T 16: 48,929,623 Q1050K probably damaging Het
Echs1 C T 7: 140,110,113 probably benign Het
Enc1 T A 13: 97,246,470 I496N possibly damaging Het
Epc2 A T 2: 49,536,646 Y139F probably benign Het
Exo1 A T 1: 175,892,127 N246I probably benign Het
Flg2 A G 3: 93,201,235 K190R probably damaging Het
Gm5424 A T 10: 62,072,192 noncoding transcript Het
Gpbp1l1 A C 4: 116,574,543 T133P probably benign Het
Gpr155 A G 2: 73,349,678 F146S probably damaging Het
Grm1 T A 10: 11,079,971 I190L probably benign Het
Hif3a C T 7: 17,041,122 R515H possibly damaging Het
Kdm5b G A 1: 134,602,576 D442N probably benign Het
Manba A T 3: 135,517,987 I212F possibly damaging Het
Map3k13 A G 16: 21,892,231 E88G possibly damaging Het
Mapk7 A G 11: 61,491,390 L163P probably damaging Het
Med1 A T 11: 98,189,180 probably null Het
Mtrf1 C T 14: 79,415,871 probably benign Het
Mtrf1 T A 14: 79,415,872 probably null Het
Mtrf1 A G 14: 79,415,980 D365G possibly damaging Het
Myadm C T 7: 3,296,887 T55I possibly damaging Het
Nlgn1 A T 3: 26,133,262 I158N probably damaging Het
Nlrp1a A T 11: 71,122,791 D544E probably benign Het
Nlrp2 A T 7: 5,317,483 L20Q probably damaging Het
Olfr1053 A T 2: 86,315,235 I17N possibly damaging Het
Olfr1504 A G 19: 13,887,437 Y258H probably damaging Het
Olfr390 T A 11: 73,787,483 S182T probably benign Het
Padi3 G A 4: 140,810,598 Q4* probably null Het
Pfkl A T 10: 78,005,475 I13K possibly damaging Het
Pinx1 A G 14: 63,919,569 D315G probably benign Het
Prickle3 A G X: 7,663,496 D47G probably benign Het
Psmd10 A T X: 140,956,654 V5E probably damaging Het
Rasgrf2 C A 13: 91,987,979 V605F probably damaging Het
Smarca1 G T X: 47,892,269 A84D probably damaging Het
Sp2 A G 11: 96,961,762 V112A probably damaging Het
Srgap3 G A 6: 112,775,687 R279C probably damaging Het
Ssfa2 G A 2: 79,660,452 M971I probably damaging Het
Trav21-dv12 T C 14: 53,876,044 L10P unknown Het
Vmn1r236 A T 17: 21,286,974 H118L probably benign Het
Vmn2r120 A G 17: 57,509,372 M661T probably benign Het
Vmn2r17 A T 5: 109,427,916 I218F probably damaging Het
Vmn2r41 G T 7: 8,138,683 A594D probably damaging Het
Zc2hc1a A G 3: 7,524,223 E103G possibly damaging Het
Zfp62 G T 11: 49,215,471 G130* probably null Het
Other mutations in Nlrc4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R1988:Nlrc4 UTSW 17 74426943 missense probably benign 0.09
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
X0026:Nlrc4 UTSW 17 74446643 missense probably damaging 1.00
Posted On2016-08-02