Incidental Mutation 'R6704:Nlrc3'
ID 528875
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 044822-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R6704 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 3762871-3794496 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3782945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 155 (V155I)
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: V171I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871
AA Change: V171I

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: V155I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 94.0%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob T C 12: 8,060,379 (GRCm39) S2921P probably damaging Het
Asxl3 G A 18: 22,650,362 (GRCm39) A784T probably benign Het
Atm T C 9: 53,370,153 (GRCm39) I2320V probably benign Het
Ccdc152 T A 15: 3,310,195 (GRCm39) I227F probably damaging Het
Cd109 T C 9: 78,587,357 (GRCm39) V675A probably benign Het
Col3a1 T C 1: 45,386,892 (GRCm39) Y235H probably damaging Het
Dnmbp T C 19: 43,889,652 (GRCm39) D705G probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ermn T C 2: 57,938,046 (GRCm39) D189G possibly damaging Het
Evx2 C A 2: 74,486,499 (GRCm39) A297S probably damaging Het
Fat1 T C 8: 45,477,410 (GRCm39) F2152S probably damaging Het
Fndc1 A G 17: 7,990,642 (GRCm39) V1018A unknown Het
Hyou1 T C 9: 44,292,431 (GRCm39) probably null Het
Kcnma1 G A 14: 24,052,882 (GRCm39) Q187* probably null Het
Macf1 C T 4: 123,304,555 (GRCm39) probably benign Het
Mcam T A 9: 44,048,217 (GRCm39) D124E probably benign Het
Mical3 T C 6: 120,986,761 (GRCm39) probably benign Het
Mlxipl A T 5: 135,166,094 (GRCm39) probably null Het
Myt1 A G 2: 181,453,005 (GRCm39) M1V probably null Het
Nlrp2 A C 7: 5,328,040 (GRCm39) L671* probably null Het
Omd A G 13: 49,743,349 (GRCm39) D133G probably damaging Het
Or5h19 T C 16: 58,856,225 (GRCm39) R292G probably damaging Het
Or9r7 T A 10: 129,962,024 (GRCm39) K301* probably null Het
Pappa G A 4: 65,123,161 (GRCm39) C832Y probably damaging Het
Pcnx3 A T 19: 5,736,515 (GRCm39) V174E possibly damaging Het
Pfkl C T 10: 77,832,200 (GRCm39) G297D probably damaging Het
Polr3a A G 14: 24,511,910 (GRCm39) L882P probably damaging Het
Ptchd4 A G 17: 42,627,931 (GRCm39) T131A probably benign Het
Rad50 T C 11: 53,589,745 (GRCm39) N152S probably damaging Het
Ruvbl1 T A 6: 88,456,187 (GRCm39) M147K probably benign Het
Septin4 T A 11: 87,479,856 (GRCm39) I277N probably damaging Het
Serpini1 T C 3: 75,545,255 (GRCm39) V337A probably damaging Het
Tmem131 A G 1: 36,835,261 (GRCm39) V1620A possibly damaging Het
Tpr A G 1: 150,282,259 (GRCm39) E248G possibly damaging Het
Ugt2b36 C A 5: 87,239,990 (GRCm39) V132F probably damaging Het
Utrn T C 10: 12,621,035 (GRCm39) E212G probably damaging Het
Zc2hc1c A T 12: 85,337,258 (GRCm39) Q305L 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
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
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
Predicted Primers PCR Primer
(F):5'- GTCTGCAGACAGTTTCTCATAGG -3'
(R):5'- CTGCAGAGTCAAGGATACCG -3'

Sequencing Primer
(F):5'- TCTCATAGGTGTTGAGATCCCGAAAG -3'
(R):5'- GTCAAGGATACCGAAGCACTCTG -3'
Posted On 2018-07-24