Incidental Mutation 'R3037:Nlrc3'
ID 264866
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 040553-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R3037 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 3762871-3794496 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3770272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 249 (N249S)
Ref Sequence ENSEMBL: ENSMUSP00000137325 (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: N954S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871
AA Change: N954S

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 damaging
Transcript: ENSMUST00000180200
AA Change: N249S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137325
Gene: ENSMUSG00000049871
AA Change: N249S

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 benign
Transcript: ENSMUST00000229884
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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
Ap3b1 T C 13: 94,582,486 (GRCm39) probably null Het
Bco1 A G 8: 117,854,278 (GRCm39) Y401C probably benign Het
Bod1l A T 5: 41,979,380 (GRCm39) S645T probably damaging Het
Cat A G 2: 103,298,122 (GRCm39) Y274H probably benign Het
Cdh19 C A 1: 110,882,337 (GRCm39) V52F probably damaging Het
Cntnap2 G A 6: 45,992,200 (GRCm39) V376I possibly damaging Het
Dll3 A G 7: 27,998,542 (GRCm39) L141P probably damaging Het
Ets2 C A 16: 95,517,109 (GRCm39) N280K probably benign Het
Fam186a G T 15: 99,841,675 (GRCm39) P1523Q probably damaging Het
Fcgbp A G 7: 27,802,127 (GRCm39) I1352V possibly damaging Het
Fcsk A T 8: 111,621,350 (GRCm39) probably null Het
Gng11 A G 6: 4,008,051 (GRCm39) E38G probably benign Het
Gsdmc2 A T 15: 63,705,180 (GRCm39) F178I probably benign Het
Il11ra1 T A 4: 41,765,074 (GRCm39) S133R possibly damaging Het
Kcnab2 T A 4: 152,478,213 (GRCm39) I349F possibly damaging Het
Kctd10 A G 5: 114,513,061 (GRCm39) V38A probably damaging Het
Lrig3 A G 10: 125,845,901 (GRCm39) R777G probably damaging Het
Naip2 A C 13: 100,291,457 (GRCm39) D1160E probably benign Het
Nanog C A 6: 122,690,227 (GRCm39) Q186K possibly damaging Het
Nup214 A T 2: 31,866,632 (GRCm39) T56S probably benign Het
Or8k41 A T 2: 86,313,987 (GRCm39) I33N probably damaging Het
Pcdhb1 T G 18: 37,398,166 (GRCm39) M39R probably damaging Het
Pced1a A C 2: 130,261,779 (GRCm39) D291E probably benign Het
Pdia6 C T 12: 17,329,646 (GRCm39) R261W probably damaging Het
Pdlim4 C A 11: 53,947,083 (GRCm39) G72V probably benign Het
Plce1 G A 19: 38,766,328 (GRCm39) D2104N probably damaging Het
Ptprk T C 10: 28,456,474 (GRCm39) L7P probably damaging Het
Rad21l A T 2: 151,502,700 (GRCm39) F170Y probably damaging Het
Scaf1 T C 7: 44,656,771 (GRCm39) probably benign Het
Topors C T 4: 40,269,673 (GRCm39) probably null Het
Trpm5 G A 7: 142,639,200 (GRCm39) T239I probably benign Het
Tspan5 G A 3: 138,604,116 (GRCm39) G167D probably damaging Het
Ttyh3 C A 5: 140,634,597 (GRCm39) probably benign Het
Usp15 C A 10: 122,999,522 (GRCm39) W220L probably damaging Het
Vmn2r77 A T 7: 86,450,191 (GRCm39) I146L probably benign Het
Ythdf3 T C 3: 16,259,355 (GRCm39) F501L probably benign Het
Zc3h4 A G 7: 16,155,410 (GRCm39) D241G unknown 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
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
Predicted Primers PCR Primer
(F):5'- TCCAGATGAGGACTGAAACCTTATG -3'
(R):5'- AGGGAACTACAGGAATCCCG -3'

Sequencing Primer
(F):5'- CCTGGAACTCATTTTGTAGACCAGG -3'
(R):5'- TACAGGAATCCCGCTGCCAG -3'
Posted On 2015-02-05