Incidental Mutation 'IGL02795:Nlrc3'
ID 359946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nlrc3
Ensembl Gene ENSMUSG00000049871
Gene Name NLR family, CARD domain containing 3
Synonyms CLR16.2, D230007K08Rik, Caterpiller 16.2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # IGL02795
Quality Score
Status
Chromosome 16
Chromosomal Location 3762871-3794496 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 3783149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 87 (H87N)
Ref Sequence ENSEMBL: ENSMUSP00000155241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177551] [ENSMUST00000180200] [ENSMUST00000229884]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000096308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163478
Predicted Effect probably damaging
Transcript: ENSMUST00000177551
AA Change: H103N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871
AA Change: H103N

DomainStartEndE-ValueType
Pfam:NACHT 176 342 2e-34 PFAM
LRR 702 729 3.11e-2 SMART
LRR 730 757 2.27e-4 SMART
LRR 758 785 8.15e-1 SMART
LRR 786 813 2.17e-1 SMART
LRR 814 841 2.12e-4 SMART
LRR 842 869 3.42e0 SMART
LRR 870 897 7.67e-2 SMART
LRR 898 925 3.21e0 SMART
LRR 926 953 1.67e0 SMART
LRR 954 981 4.87e-4 SMART
LRR 982 1009 4.3e0 SMART
LRR 1010 1037 3.8e-6 SMART
LRR 1038 1065 4.47e-3 SMART
LRR 1066 1093 1.08e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180200
SMART Domains Protein: ENSMUSP00000137325
Gene: ENSMUSG00000049871

DomainStartEndE-ValueType
LRR 4 24 8.65e1 SMART
LRR 25 52 2.27e-4 SMART
LRR 53 80 8.15e-1 SMART
LRR 81 108 2.17e-1 SMART
LRR 109 136 2.12e-4 SMART
LRR 137 164 3.42e0 SMART
LRR 165 192 7.67e-2 SMART
LRR 193 220 3.21e0 SMART
LRR 221 248 1.67e0 SMART
LRR 249 276 4.87e-4 SMART
LRR 277 304 4.3e0 SMART
LRR 305 332 3.8e-6 SMART
LRR 333 360 4.47e-3 SMART
LRR 361 388 1.08e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000229884
AA Change: H87N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
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 NOD-like receptor family member. The encoded protein is a cytosolic regulator of innate immunity. This protein directly interacts with stimulator of interferon genes (STING), to prevent its proper trafficking, resulting in disruption of STING-dependent activation of the innate immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced susceptibility to LPS-induced toxic shock. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,327,907 (GRCm39) L1391P probably damaging Het
Abcc3 G A 11: 94,252,468 (GRCm39) probably benign Het
Acvr1 A G 2: 58,352,964 (GRCm39) I332T probably damaging Het
Atp8a2 C T 14: 60,271,191 (GRCm39) V247M probably damaging Het
Btn1a1 T C 13: 23,644,786 (GRCm39) probably null Het
Btnl9 A T 11: 49,065,694 (GRCm39) probably benign Het
Dbx1 T A 7: 49,286,325 (GRCm39) I47F probably benign Het
Dennd2b T C 7: 109,155,571 (GRCm39) Y393C probably damaging Het
Dnaja3 A G 16: 4,507,937 (GRCm39) probably benign Het
Dnmt1 T C 9: 20,838,407 (GRCm39) S220G probably benign Het
Dock9 A T 14: 121,877,390 (GRCm39) M451K probably benign Het
Eml3 A G 19: 8,911,142 (GRCm39) Y257C probably benign Het
Fam3d T A 14: 8,355,497 (GRCm38) M113L probably benign Het
Fbxw19 C A 9: 109,324,886 (GRCm39) M10I possibly damaging Het
Flg2 C T 3: 93,110,920 (GRCm39) R983W unknown Het
Galnt5 C A 2: 57,917,883 (GRCm39) P707H probably damaging Het
Gba2 G T 4: 43,578,331 (GRCm39) P6Q probably damaging Het
Gm13199 A G 2: 5,867,484 (GRCm39) probably benign Het
Gpr45 C T 1: 43,071,653 (GRCm39) R99C possibly damaging Het
Hecw1 G A 13: 14,497,102 (GRCm39) S302L probably damaging Het
Hrg T C 16: 22,776,303 (GRCm39) probably benign Het
Lama1 A G 17: 68,045,889 (GRCm39) probably null Het
Lgr4 T C 2: 109,838,555 (GRCm39) probably benign Het
Lrrc9 C T 12: 72,525,542 (GRCm39) T830M probably damaging Het
Mdga2 T C 12: 66,736,206 (GRCm39) T341A probably benign Het
Mms19 C T 19: 41,940,845 (GRCm39) probably null Het
Nectin1 A G 9: 43,714,849 (GRCm39) S362G probably benign Het
Or1e17 G A 11: 73,831,755 (GRCm39) V228I probably benign Het
Or2ah1 T A 2: 85,653,856 (GRCm39) C180* probably null Het
Or4b13 A G 2: 90,082,906 (GRCm39) L142P probably damaging Het
Or52a20 T A 7: 103,366,090 (GRCm39) F96L probably benign Het
Or5h17 G T 16: 58,820,640 (GRCm39) L197F possibly damaging Het
Pcsk1 G T 13: 75,260,739 (GRCm39) G321C probably damaging Het
Poglut3 A G 9: 53,303,405 (GRCm39) D99G probably damaging Het
Prrc2c G T 1: 162,541,868 (GRCm39) P374T probably benign Het
Rusc1 A T 3: 88,999,257 (GRCm39) L175Q probably damaging Het
Ryr2 T C 13: 11,610,076 (GRCm39) N4250S probably benign Het
Scara5 A C 14: 65,968,129 (GRCm39) N134T possibly damaging Het
Sema4d T C 13: 51,857,447 (GRCm39) K595R probably benign Het
Serpinb6a A C 13: 34,115,576 (GRCm39) L15R probably damaging Het
Setdb1 A T 3: 95,234,684 (GRCm39) N1006K probably damaging Het
Slc18a2 G A 19: 59,262,922 (GRCm39) probably benign Het
Slc22a30 C T 19: 8,378,259 (GRCm39) C139Y probably damaging Het
Slc25a27 T A 17: 43,958,003 (GRCm39) Y269F probably damaging Het
Slc9c1 A T 16: 45,395,782 (GRCm39) D611V probably benign Het
Spag6 G T 2: 18,737,894 (GRCm39) V255F probably benign Het
Svep1 C A 4: 58,123,223 (GRCm39) G698W probably damaging Het
Syne2 T C 12: 76,013,323 (GRCm39) L2839P probably damaging Het
Tfb2m T C 1: 179,373,524 (GRCm39) E58G possibly damaging Het
Trim24 A T 6: 37,896,324 (GRCm39) E260D probably damaging Het
Ugt2b1 T A 5: 87,065,560 (GRCm39) D493V probably damaging Het
Vmn1r27 A G 6: 58,192,287 (GRCm39) V189A possibly damaging Het
Vmn2r91 A G 17: 18,305,539 (GRCm39) Q74R probably benign Het
Vps25 A G 11: 101,146,916 (GRCm39) Y64C probably damaging Het
Xirp2 G A 2: 67,339,480 (GRCm39) G574S probably damaging Het
Ythdc2 A G 18: 44,970,505 (GRCm39) E273G possibly damaging Het
Other mutations in Nlrc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Nlrc3 APN 16 3,773,030 (GRCm39) missense probably damaging 1.00
IGL00943:Nlrc3 APN 16 3,782,981 (GRCm39) missense possibly damaging 0.94
IGL01481:Nlrc3 APN 16 3,781,769 (GRCm39) missense probably damaging 1.00
IGL01517:Nlrc3 APN 16 3,765,351 (GRCm39) missense probably damaging 0.99
IGL01988:Nlrc3 APN 16 3,771,803 (GRCm39) missense probably benign 0.43
IGL02306:Nlrc3 APN 16 3,782,688 (GRCm39) missense probably damaging 1.00
IGL02515:Nlrc3 APN 16 3,767,323 (GRCm39) splice site probably benign
IGL02897:Nlrc3 APN 16 3,781,938 (GRCm39) missense possibly damaging 0.85
IGL02992:Nlrc3 APN 16 3,771,887 (GRCm39) splice site probably benign
IGL03003:Nlrc3 APN 16 3,782,726 (GRCm39) missense probably benign 0.03
IGL03381:Nlrc3 APN 16 3,782,179 (GRCm39) missense probably benign 0.03
R0064:Nlrc3 UTSW 16 3,781,951 (GRCm39) missense possibly damaging 0.82
R0064:Nlrc3 UTSW 16 3,781,951 (GRCm39) missense possibly damaging 0.82
R0122:Nlrc3 UTSW 16 3,776,822 (GRCm39) missense probably damaging 0.98
R0482:Nlrc3 UTSW 16 3,783,056 (GRCm39) missense possibly damaging 0.81
R0601:Nlrc3 UTSW 16 3,766,113 (GRCm39) splice site probably benign
R0622:Nlrc3 UTSW 16 3,771,832 (GRCm39) missense probably benign 0.04
R0675:Nlrc3 UTSW 16 3,766,775 (GRCm39) missense probably benign 0.01
R1595:Nlrc3 UTSW 16 3,783,166 (GRCm39) missense probably benign 0.03
R1597:Nlrc3 UTSW 16 3,781,859 (GRCm39) missense probably damaging 1.00
R2013:Nlrc3 UTSW 16 3,782,974 (GRCm39) missense probably damaging 1.00
R2077:Nlrc3 UTSW 16 3,781,856 (GRCm39) missense probably benign 0.35
R2327:Nlrc3 UTSW 16 3,771,304 (GRCm39) missense probably damaging 1.00
R2872:Nlrc3 UTSW 16 3,775,190 (GRCm39) missense possibly damaging 0.56
R2872:Nlrc3 UTSW 16 3,775,190 (GRCm39) missense possibly damaging 0.56
R3037:Nlrc3 UTSW 16 3,770,272 (GRCm39) missense probably damaging 1.00
R3794:Nlrc3 UTSW 16 3,765,739 (GRCm39) missense probably benign 0.22
R3843:Nlrc3 UTSW 16 3,782,828 (GRCm39) missense probably benign
R4761:Nlrc3 UTSW 16 3,781,514 (GRCm39) missense probably damaging 1.00
R5303:Nlrc3 UTSW 16 3,781,478 (GRCm39) missense probably benign 0.15
R5375:Nlrc3 UTSW 16 3,782,617 (GRCm39) missense possibly damaging 0.95
R5468:Nlrc3 UTSW 16 3,781,899 (GRCm39) missense probably damaging 1.00
R5719:Nlrc3 UTSW 16 3,781,589 (GRCm39) missense probably damaging 1.00
R5838:Nlrc3 UTSW 16 3,771,859 (GRCm39) missense probably damaging 1.00
R5879:Nlrc3 UTSW 16 3,781,909 (GRCm39) missense probably damaging 1.00
R5942:Nlrc3 UTSW 16 3,767,293 (GRCm39) missense probably damaging 1.00
R6500:Nlrc3 UTSW 16 3,770,308 (GRCm39) missense possibly damaging 0.79
R6600:Nlrc3 UTSW 16 3,782,938 (GRCm39) missense probably benign 0.29
R6704:Nlrc3 UTSW 16 3,782,945 (GRCm39) missense probably damaging 0.99
R7172:Nlrc3 UTSW 16 3,781,617 (GRCm39) missense probably benign 0.30
R7283:Nlrc3 UTSW 16 3,765,741 (GRCm39) missense probably benign 0.25
R7296:Nlrc3 UTSW 16 3,781,454 (GRCm39) missense probably damaging 0.99
R7477:Nlrc3 UTSW 16 3,782,675 (GRCm39) missense probably damaging 0.99
R7817:Nlrc3 UTSW 16 3,783,327 (GRCm39) missense possibly damaging 0.87
R8118:Nlrc3 UTSW 16 3,783,495 (GRCm39) missense probably benign
R8559:Nlrc3 UTSW 16 3,783,146 (GRCm39) missense probably benign 0.05
R8871:Nlrc3 UTSW 16 3,781,968 (GRCm39) intron probably benign
R9008:Nlrc3 UTSW 16 3,776,807 (GRCm39) missense possibly damaging 0.95
R9237:Nlrc3 UTSW 16 3,783,073 (GRCm39) missense probably benign 0.02
R9385:Nlrc3 UTSW 16 3,781,876 (GRCm39) missense probably damaging 1.00
R9430:Nlrc3 UTSW 16 3,783,396 (GRCm39) missense probably benign 0.00
R9509:Nlrc3 UTSW 16 3,782,680 (GRCm39) missense probably damaging 1.00
R9573:Nlrc3 UTSW 16 3,771,841 (GRCm39) missense probably benign 0.40
Posted On 2015-12-18