Incidental Mutation 'R0064:Nlrc3'
ID 16348
Institutional Source Beutler Lab
Gene Symbol Nlrc3
Ensembl Gene ENSMUSG00000049871
Gene Name NLR family, CARD domain containing 3
Synonyms CLR16.2, D230007K08Rik, Caterpiller 16.2
MMRRC Submission 038356-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R0064 (G1)
Quality Score
Status Validated
Chromosome 16
Chromosomal Location 3762871-3794496 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 3781951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 486 (T486K)
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 possibly damaging
Transcript: ENSMUST00000177551
AA Change: T502K

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871
AA Change: T502K

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 possibly damaging
Transcript: ENSMUST00000229884
AA Change: T486K

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 87.7%
  • 3x: 83.1%
  • 10x: 65.7%
  • 20x: 35.9%
Validation Efficiency 92% (56/61)
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A G 3: 40,888,288 (GRCm39) I377M probably benign Het
Ccdc25 T A 14: 66,091,561 (GRCm39) I60K possibly damaging Het
Cdk1 T C 10: 69,180,907 (GRCm39) D101G probably benign Het
Cep126 A T 9: 8,130,183 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crlf3 A G 11: 79,948,728 (GRCm39) I239T possibly damaging Het
Cul1 A G 6: 47,479,349 (GRCm39) probably benign Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fgd3 T G 13: 49,449,901 (GRCm39) D116A possibly damaging Het
Gm270 C A 13: 49,919,367 (GRCm39) noncoding transcript Het
Knl1 T A 2: 118,906,724 (GRCm39) N1604K probably benign Het
Lpl A G 8: 69,345,356 (GRCm39) H120R probably damaging Het
Myo18a G T 11: 77,738,170 (GRCm39) R1704L probably damaging Het
Obscn A C 11: 58,918,292 (GRCm39) V6260G probably damaging Het
Or10a2 T C 7: 106,673,487 (GRCm39) F151L probably benign Het
Pmpca C A 2: 26,285,519 (GRCm39) D498E probably benign Het
Pnpla7 G T 2: 24,887,239 (GRCm39) E28* probably null Het
Polg C A 7: 79,111,632 (GRCm39) W206C probably damaging Het
Spata31 T C 13: 65,069,912 (GRCm39) Y687H probably damaging Het
Sybu T A 15: 44,536,389 (GRCm39) T646S probably benign Het
Tns3 G A 11: 8,385,856 (GRCm39) Q1381* probably null Het
Trank1 A G 9: 111,172,263 (GRCm39) D84G probably damaging Het
Urb1 A G 16: 90,576,028 (GRCm39) F843L probably benign Het
Zfp287 A T 11: 62,605,764 (GRCm39) L370H 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
IGL02795:Nlrc3 APN 16 3,783,149 (GRCm39) missense probably damaging 0.99
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
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 2013-01-20