Incidental Mutation 'R4367:Nlrc5'
ID 325810
Institutional Source Beutler Lab
Gene Symbol Nlrc5
Ensembl Gene ENSMUSG00000074151
Gene Name NLR family, CARD domain containing 5
Synonyms AI451557
MMRRC Submission 041673-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4367 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 95160984-95253900 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95203192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 431 (S431P)
Ref Sequence ENSEMBL: ENSMUSP00000148677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053085] [ENSMUST00000182409] [ENSMUST00000211816]
AlphaFold C3VPR6
Predicted Effect probably damaging
Transcript: ENSMUST00000053085
AA Change: S431P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
AA Change: S431P

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: S431P

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably damaging
Transcript: ENSMUST00000211816
AA Change: S431P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.2609 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb2 T C 18: 62,312,127 (GRCm39) I233V probably damaging Het
Alox5 T A 6: 116,437,924 (GRCm39) Y21F possibly damaging Het
Ank2 T C 3: 126,739,798 (GRCm39) T1942A probably benign Het
Aoc1l1 T C 6: 48,953,064 (GRCm39) S330P probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bckdk C T 7: 127,505,591 (GRCm39) A238V probably benign Het
Casp1 A G 9: 5,299,333 (GRCm39) T21A probably benign Het
Ccdc39 T C 3: 33,880,671 (GRCm39) H432R probably benign Het
Cttnbp2 A C 6: 18,405,248 (GRCm39) C574G probably damaging Het
Cyp1a1 T C 9: 57,607,432 (GRCm39) V20A probably benign Het
Dhx38 C T 8: 110,279,763 (GRCm39) V976I probably damaging Het
Dnah6 A G 6: 73,126,467 (GRCm39) S1287P possibly damaging Het
Dnttip2 T C 3: 122,070,146 (GRCm39) S454P probably damaging Het
Drp2 A T X: 133,335,884 (GRCm39) probably benign Het
Flcn C T 11: 59,694,610 (GRCm39) V121I possibly damaging Het
Fmo1 G C 1: 162,661,217 (GRCm39) Y355* probably null Het
Git2 T A 5: 114,902,727 (GRCm39) H138L probably damaging Het
Gpr162 G A 6: 124,838,658 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnt1 T C 2: 25,797,638 (GRCm39) I881T probably damaging Het
Lama3 T A 18: 12,646,747 (GRCm39) C1754S probably damaging Het
Mpp3 A T 11: 101,914,246 (GRCm39) D116E probably benign Het
Myh11 T C 16: 14,036,747 (GRCm39) D985G probably damaging Het
Necap1 T C 6: 122,864,337 (GRCm39) V273A probably damaging Het
Nutm2 A T 13: 50,623,920 (GRCm39) T206S probably benign Het
Or2d3 GAACAACAACAA GAACAACAA 7: 106,490,567 (GRCm39) probably benign Het
Or5p79 C T 7: 108,221,096 (GRCm39) L26F probably benign Het
Or8g19 G A 9: 39,055,725 (GRCm39) A110T probably damaging Het
Phactr2 A G 10: 13,129,564 (GRCm39) S235P probably damaging Het
Podnl1 G A 8: 84,853,897 (GRCm39) R89H probably benign Het
Prpf38b T C 3: 108,818,487 (GRCm39) Y91C probably damaging Het
Radil C T 5: 142,480,560 (GRCm39) A632T probably benign Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sdf2 C T 11: 78,141,863 (GRCm39) T66I probably damaging Het
Specc1 T C 11: 62,009,356 (GRCm39) S371P probably damaging Het
Suco T C 1: 161,674,799 (GRCm39) E416G probably damaging Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tars3 C T 7: 65,332,567 (GRCm39) T556M probably damaging Het
Tcirg1 C T 19: 3,949,069 (GRCm39) D407N probably damaging Het
Tefm G T 11: 80,031,156 (GRCm39) L27I probably benign Het
Tenm2 A G 11: 35,918,225 (GRCm39) I1845T probably benign Het
Tfam A T 10: 71,069,233 (GRCm39) I119N probably damaging Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Trpm6 T C 19: 18,804,889 (GRCm39) I947T probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp54 T C 14: 20,611,202 (GRCm39) T1205A probably benign Het
Vmn2r25 T C 6: 123,805,496 (GRCm39) R454G probably damaging Het
Xylb T C 9: 119,217,781 (GRCm39) V477A probably benign 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
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
R7910:Nlrc5 UTSW 8 95,219,720 (GRCm39) missense probably benign 0.00
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'- GAAACTGCCTTCCTGTGTGC -3'
(R):5'- ACATCAGTTGGGGAGAGATGTC -3'

Sequencing Primer
(F):5'- AGCCACGGTACACATGTG -3'
(R):5'- TGTCTTCCACAGAGAAGACGACTTTC -3'
Posted On 2015-07-06