Incidental Mutation 'R7910:Nlrc5'
ID 610444
Institutional Source Beutler Lab
Gene Symbol Nlrc5
Ensembl Gene ENSMUSG00000074151
Gene Name NLR family, CARD domain containing 5
Synonyms AI451557
MMRRC Submission 045959-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7910 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 95160984-95253900 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 95219720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1103 (S1103R)
Ref Sequence ENSEMBL: ENSMUSP00000138322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053085] [ENSMUST00000182409] [ENSMUST00000211816]
AlphaFold C3VPR6
PDB Structure The solution NMR structure of the NLRC5 caspase recruitment domain (CARD) [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000053085
AA Change: S1103R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
AA Change: S1103R

DomainStartEndE-ValueType
low complexity region 136 151 N/A INTRINSIC
Pfam:NACHT 223 386 1.8e-32 PFAM
LRR 716 743 6.89e1 SMART
LRR 744 771 9.86e1 SMART
LRR 772 796 1.22e2 SMART
LRR 844 870 2.16e2 SMART
LRR 871 898 1.76e-1 SMART
LRR 1006 1033 1.9e0 SMART
LRR 1034 1061 4.51e1 SMART
low complexity region 1141 1169 N/A INTRINSIC
LRR 1240 1267 2.67e1 SMART
LRR 1273 1295 1.22e1 SMART
low complexity region 1341 1351 N/A INTRINSIC
LRR 1519 1546 5.48e1 SMART
LRR 1547 1574 3.36e1 SMART
LRR 1575 1602 1.69e1 SMART
LRR 1603 1630 8.99e-1 SMART
LRR 1631 1654 5.26e0 SMART
LRR 1659 1686 2.81e0 SMART
LRR 1687 1714 1.6e-4 SMART
LRR 1715 1742 1.06e0 SMART
LRR 1743 1768 8e0 SMART
LRR 1793 1820 2.06e1 SMART
LRR 1821 1848 5.42e-2 SMART
LRR 1849 1876 3.54e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182409
AA Change: S1103R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000183132
Predicted Effect probably benign
Transcript: ENSMUST00000211816
AA Change: S1103R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal cytokine production induced by virus and bacteria infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik A T 6: 65,930,289 (GRCm39) T175S probably benign Het
Abca13 A G 11: 9,531,590 (GRCm39) I4606V probably damaging Het
Abca3 G A 17: 24,604,827 (GRCm39) V645I probably benign Het
Abi3bp A T 16: 56,498,105 (GRCm39) R980* probably null Het
Acsl6 G T 11: 54,236,797 (GRCm39) G564* probably null Het
Alppl2 T C 1: 87,015,159 (GRCm39) E430G probably benign Het
Anks1b A G 10: 90,516,654 (GRCm39) Y883C probably damaging Het
Atp11b T C 3: 35,885,652 (GRCm39) F882L possibly damaging Het
Atrn T A 2: 130,806,807 (GRCm39) H609Q probably benign Het
Bcl2l13 A T 6: 120,842,646 (GRCm39) K113M possibly damaging Het
Brinp2 T A 1: 158,074,450 (GRCm39) N557I probably damaging Het
C4b A G 17: 34,959,326 (GRCm39) L416P probably benign Het
Ccdc125 T A 13: 100,819,327 (GRCm39) I163K possibly damaging Het
Ccdc136 T G 6: 29,420,033 (GRCm39) D1075E probably benign Het
Cdc45 T A 16: 18,629,203 (GRCm39) Y47F probably damaging Het
Cdk10 T C 8: 123,953,105 (GRCm39) V36A probably damaging Het
Ciz1 T A 2: 32,260,139 (GRCm39) probably null Het
Clasp1 T G 1: 118,530,144 (GRCm39) L1502* probably null Het
Crtc1 G T 8: 70,840,251 (GRCm39) Q541K probably benign Het
Ddx5 G T 11: 106,675,261 (GRCm39) T358N probably damaging Het
Ehbp1l1 A T 19: 5,766,452 (GRCm39) V1297E probably benign Het
Eif2d C A 1: 131,082,950 (GRCm39) T98K probably damaging Het
Ezh2 T C 6: 47,533,077 (GRCm39) D124G probably damaging Het
Gamt T G 10: 80,094,243 (GRCm39) I223L possibly damaging Het
Gbp7 T C 3: 142,240,402 (GRCm39) V40A probably damaging Het
Gm11992 A G 11: 8,999,165 (GRCm39) E7G probably damaging Het
Gml2 A G 15: 74,692,379 (GRCm39) probably null Het
Grem2 A G 1: 174,664,813 (GRCm39) V12A probably benign Het
Gsta1 T A 9: 78,139,577 (GRCm39) I19N probably damaging Het
Gstt2 T C 10: 75,667,736 (GRCm39) I240V probably benign Het
Hectd4 T C 5: 121,392,291 (GRCm39) L185S possibly damaging Het
Hsd3b7 G A 7: 127,400,419 (GRCm39) probably null Het
Ift22 T A 5: 136,940,638 (GRCm39) M101K probably benign Het
Irs1 A G 1: 82,267,802 (GRCm39) V138A probably benign Het
Ky A G 9: 102,419,141 (GRCm39) M383V possibly damaging Het
Lama4 A G 10: 38,946,005 (GRCm39) E796G probably damaging Het
Lcp2 A G 11: 34,038,061 (GRCm39) Y426C probably damaging Het
Lig3 A G 11: 82,688,601 (GRCm39) D755G probably damaging Het
Lrrc43 A G 5: 123,639,084 (GRCm39) D371G probably benign Het
Lrrc43 T A 5: 123,630,470 (GRCm39) I111N probably damaging Het
Lrrc74b C A 16: 17,376,213 (GRCm39) G146* probably null Het
Lrrfip1 A G 1: 91,047,874 (GRCm39) K479E possibly damaging Het
Lrriq1 C A 10: 103,051,055 (GRCm39) E566* probably null Het
Mlxipl C T 5: 135,161,263 (GRCm39) A394V possibly damaging Het
Myh14 T C 7: 44,281,819 (GRCm39) Y813C probably damaging Het
Nat10 T A 2: 103,555,490 (GRCm39) E943D probably benign Het
Nectin2 T A 7: 19,466,912 (GRCm39) K226* probably null Het
Nr4a1 T A 15: 101,169,641 (GRCm39) Y304N probably damaging Het
Ntpcr T C 8: 126,474,483 (GRCm39) V184A probably benign Het
Or1j13 T A 2: 36,369,345 (GRCm39) N266Y probably damaging Het
Or5p73 T C 7: 108,064,978 (GRCm39) V149A probably benign Het
Or5t18 A G 2: 86,637,191 (GRCm39) S51P probably benign Het
Oxr1 A C 15: 41,517,030 (GRCm39) S65R possibly damaging Het
Pcdhb19 A T 18: 37,630,720 (GRCm39) I172L probably benign Het
Pds5a A T 5: 65,795,925 (GRCm39) I655N possibly damaging Het
Pik3cg T C 12: 32,250,516 (GRCm39) Y757C probably benign Het
Plekha5 C A 6: 140,472,184 (GRCm39) T37N possibly damaging Het
Ppp4r1 T A 17: 66,118,298 (GRCm39) F167I probably benign Het
Ppp4r1 C T 17: 66,136,394 (GRCm39) A534V probably damaging Het
Ppt2 T A 17: 34,846,300 (GRCm39) probably null Het
Prrt2 A T 7: 126,619,219 (GRCm39) V82D possibly damaging Het
Rassf5 T A 1: 131,108,366 (GRCm39) Y338F probably benign Het
Rbbp6 G A 7: 122,596,251 (GRCm39) V560I possibly damaging Het
Rcbtb1 T C 14: 59,474,127 (GRCm39) M90T unknown Het
Rif1 T A 2: 51,968,399 (GRCm39) L194* probably null Het
Rybp A T 6: 100,209,879 (GRCm39) I128K possibly damaging Het
Samm50 T G 15: 84,098,346 (GRCm39) F462V possibly damaging Het
Slain1 T C 14: 103,923,200 (GRCm39) Y264H probably damaging Het
Slc29a4 C T 5: 142,691,156 (GRCm39) P12L probably benign Het
Slc6a2 T C 8: 93,720,766 (GRCm39) I461T possibly damaging Het
Soat2 A G 15: 102,069,106 (GRCm39) D377G probably damaging Het
Spocd1 A G 4: 129,823,893 (GRCm39) E230G Het
Tbc1d30 T A 10: 121,183,061 (GRCm39) K126* probably null Het
Tgfbi T A 13: 56,779,997 (GRCm39) F515L probably damaging Het
Utf1 A G 7: 139,524,704 (GRCm39) probably benign Het
Vmn1r206 G T 13: 22,804,471 (GRCm39) Y245* probably null Het
Vmn1r87 T A 7: 12,865,832 (GRCm39) S152C probably damaging Het
Zfc3h1 C A 10: 115,256,588 (GRCm39) Y1519* probably null Het
Zfp248 A T 6: 118,407,103 (GRCm39) L162H possibly damaging Het
Zfp804a T A 2: 82,086,917 (GRCm39) F249I probably damaging Het
Other mutations in Nlrc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Nlrc5 APN 8 95,228,839 (GRCm39) splice site probably benign
IGL00232:Nlrc5 APN 8 95,211,251 (GRCm39) critical splice donor site probably null
IGL00324:Nlrc5 APN 8 95,248,107 (GRCm39) missense probably damaging 1.00
IGL02715:Nlrc5 APN 8 95,201,296 (GRCm39) missense probably damaging 1.00
IGL02992:Nlrc5 APN 8 95,233,201 (GRCm39) missense possibly damaging 0.69
IGL03095:Nlrc5 APN 8 95,248,536 (GRCm39) splice site probably benign
IGL03389:Nlrc5 APN 8 95,248,102 (GRCm39) missense probably damaging 1.00
IGL03406:Nlrc5 APN 8 95,203,483 (GRCm39) missense probably benign 0.01
cassis UTSW 8 95,203,021 (GRCm39) nonsense probably null
cowberry UTSW 8 95,218,153 (GRCm39) missense possibly damaging 0.83
lingon UTSW 8 95,208,488 (GRCm39) missense probably damaging 1.00
R0037:Nlrc5 UTSW 8 95,216,163 (GRCm39) missense probably benign 0.00
R0048:Nlrc5 UTSW 8 95,201,284 (GRCm39) missense possibly damaging 0.81
R0092:Nlrc5 UTSW 8 95,216,222 (GRCm39) splice site probably benign
R0506:Nlrc5 UTSW 8 95,219,753 (GRCm39) splice site probably benign
R0548:Nlrc5 UTSW 8 95,248,411 (GRCm39) missense probably null 0.09
R2014:Nlrc5 UTSW 8 95,252,138 (GRCm39) splice site probably benign
R3051:Nlrc5 UTSW 8 95,203,343 (GRCm39) missense probably benign 0.01
R3776:Nlrc5 UTSW 8 95,199,467 (GRCm39) missense possibly damaging 0.48
R3837:Nlrc5 UTSW 8 95,237,929 (GRCm39) splice site probably benign
R4012:Nlrc5 UTSW 8 95,202,620 (GRCm39) missense possibly damaging 0.92
R4367:Nlrc5 UTSW 8 95,203,192 (GRCm39) missense probably damaging 1.00
R4400:Nlrc5 UTSW 8 95,220,981 (GRCm39) missense probably benign 0.08
R4469:Nlrc5 UTSW 8 95,247,467 (GRCm39) missense probably damaging 1.00
R4561:Nlrc5 UTSW 8 95,203,774 (GRCm39) missense probably damaging 1.00
R4584:Nlrc5 UTSW 8 95,203,903 (GRCm39) missense probably damaging 0.96
R4758:Nlrc5 UTSW 8 95,238,956 (GRCm39) missense possibly damaging 0.70
R4834:Nlrc5 UTSW 8 95,232,113 (GRCm39) missense probably benign 0.00
R4896:Nlrc5 UTSW 8 95,247,844 (GRCm39) unclassified probably benign
R5004:Nlrc5 UTSW 8 95,247,844 (GRCm39) unclassified probably benign
R5018:Nlrc5 UTSW 8 95,252,080 (GRCm39) missense probably damaging 1.00
R5115:Nlrc5 UTSW 8 95,203,447 (GRCm39) missense possibly damaging 0.67
R5116:Nlrc5 UTSW 8 95,208,488 (GRCm39) missense probably damaging 1.00
R5126:Nlrc5 UTSW 8 95,201,299 (GRCm39) missense possibly damaging 0.95
R5148:Nlrc5 UTSW 8 95,203,321 (GRCm39) missense probably damaging 1.00
R5224:Nlrc5 UTSW 8 95,220,944 (GRCm39) missense probably benign 0.26
R5527:Nlrc5 UTSW 8 95,217,044 (GRCm39) missense probably damaging 1.00
R5640:Nlrc5 UTSW 8 95,202,421 (GRCm39) missense probably benign 0.02
R5705:Nlrc5 UTSW 8 95,202,385 (GRCm39) missense probably benign 0.00
R5778:Nlrc5 UTSW 8 95,206,154 (GRCm39) missense possibly damaging 0.66
R5830:Nlrc5 UTSW 8 95,199,542 (GRCm39) missense probably damaging 1.00
R5850:Nlrc5 UTSW 8 95,247,675 (GRCm39) missense probably benign 0.00
R5978:Nlrc5 UTSW 8 95,215,221 (GRCm39) missense probably damaging 0.98
R6335:Nlrc5 UTSW 8 95,228,902 (GRCm39) missense probably benign 0.01
R6372:Nlrc5 UTSW 8 95,206,378 (GRCm39) missense probably damaging 0.98
R6486:Nlrc5 UTSW 8 95,247,927 (GRCm39) splice site probably null
R6765:Nlrc5 UTSW 8 95,216,996 (GRCm39) missense probably benign 0.20
R6861:Nlrc5 UTSW 8 95,247,857 (GRCm39) unclassified probably benign
R6869:Nlrc5 UTSW 8 95,248,583 (GRCm39) missense probably benign 0.00
R7134:Nlrc5 UTSW 8 95,206,350 (GRCm39) missense probably damaging 0.99
R7204:Nlrc5 UTSW 8 95,218,153 (GRCm39) missense possibly damaging 0.83
R7231:Nlrc5 UTSW 8 95,248,433 (GRCm39) critical splice donor site probably null
R7309:Nlrc5 UTSW 8 95,200,670 (GRCm39) missense probably benign 0.01
R7368:Nlrc5 UTSW 8 95,203,021 (GRCm39) nonsense probably null
R7497:Nlrc5 UTSW 8 95,248,598 (GRCm39) missense probably damaging 1.00
R7606:Nlrc5 UTSW 8 95,203,745 (GRCm39) missense possibly damaging 0.67
R7611:Nlrc5 UTSW 8 95,239,276 (GRCm39) critical splice donor site probably null
R7685:Nlrc5 UTSW 8 95,248,028 (GRCm39) splice site probably null
R7810:Nlrc5 UTSW 8 95,231,772 (GRCm39) missense possibly damaging 0.85
R7829:Nlrc5 UTSW 8 95,248,397 (GRCm39) missense probably damaging 1.00
R7921:Nlrc5 UTSW 8 95,214,292 (GRCm39) missense probably damaging 1.00
R8131:Nlrc5 UTSW 8 95,208,420 (GRCm39) missense probably damaging 1.00
R8237:Nlrc5 UTSW 8 95,252,753 (GRCm39) missense unknown
R8493:Nlrc5 UTSW 8 95,249,848 (GRCm39) missense probably damaging 1.00
R8888:Nlrc5 UTSW 8 95,252,118 (GRCm39) missense probably benign 0.04
R8964:Nlrc5 UTSW 8 95,232,116 (GRCm39) missense possibly damaging 0.54
R9053:Nlrc5 UTSW 8 95,217,013 (GRCm39) missense probably benign 0.00
R9058:Nlrc5 UTSW 8 95,238,938 (GRCm39) missense possibly damaging 0.86
R9161:Nlrc5 UTSW 8 95,213,274 (GRCm39) missense probably damaging 0.97
R9278:Nlrc5 UTSW 8 95,237,908 (GRCm39) missense probably benign 0.00
R9285:Nlrc5 UTSW 8 95,199,604 (GRCm39) missense probably damaging 1.00
R9405:Nlrc5 UTSW 8 95,199,652 (GRCm39) missense probably damaging 0.98
R9591:Nlrc5 UTSW 8 95,249,309 (GRCm39) missense probably damaging 1.00
R9620:Nlrc5 UTSW 8 95,203,034 (GRCm39) missense probably benign 0.44
RF021:Nlrc5 UTSW 8 95,203,516 (GRCm39) missense probably benign 0.16
Z1088:Nlrc5 UTSW 8 95,231,092 (GRCm39) missense possibly damaging 0.48
Z1177:Nlrc5 UTSW 8 95,233,208 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTTGACAAAGTGGTGGCAGG -3'
(R):5'- ACTGAGGTGATCCAAAGGGC -3'

Sequencing Primer
(F):5'- GTTCCTCCACCTGAACAATGAGG -3'
(R):5'- TGATCCAAAGGGCCCAGC -3'
Posted On 2019-12-20