Incidental Mutation 'R4758:Nlrc5'
ID 358330
Institutional Source Beutler Lab
Gene Symbol Nlrc5
Ensembl Gene ENSMUSG00000074151
Gene Name NLR family, CARD domain containing 5
Synonyms AI451557
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4758 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 95160984-95253900 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 95238956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 1465 (Q1465K)
Ref Sequence ENSEMBL: ENSMUSP00000148677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053085] [ENSMUST00000211816]
AlphaFold C3VPR6
Predicted Effect possibly damaging
Transcript: ENSMUST00000053085
AA Change: Q1465K

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
AA Change: Q1465K

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 possibly damaging
Transcript: ENSMUST00000211816
AA Change: Q1465K

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 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 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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T A 3: 36,127,754 (GRCm39) Y119N probably damaging Het
Actn2 T A 13: 12,303,472 (GRCm39) K443* probably null Het
Adgrb2 A G 4: 129,903,143 (GRCm39) N581S probably damaging Het
Afg2a T A 3: 37,487,385 (GRCm39) S416T probably benign Het
Alb A T 5: 90,616,452 (GRCm39) H319L probably benign Het
Aox1 A G 1: 58,371,741 (GRCm39) I802V probably benign Het
Arhgap45 G A 10: 79,866,127 (GRCm39) G995E probably benign Het
Capn12 A C 7: 28,592,148 (GRCm39) T689P possibly damaging Het
Cars1 T C 7: 143,125,304 (GRCm39) S312G probably benign Het
Cast T A 13: 74,887,999 (GRCm39) D216V possibly damaging Het
Ccdc13 C T 9: 121,662,800 (GRCm39) E72K possibly damaging Het
Cd300lg G T 11: 101,944,417 (GRCm39) probably null Het
Cep41 A G 6: 30,671,368 (GRCm39) probably benign Het
Chrna3 A G 9: 54,929,560 (GRCm39) Y93H probably damaging Het
Cic A G 7: 24,991,636 (GRCm39) R1309G possibly damaging Het
Clcnkb A G 4: 141,135,160 (GRCm39) V526A probably benign Het
Clec4a1 G T 6: 122,910,825 (GRCm39) V227F probably damaging Het
Cpa5 C A 6: 30,615,159 (GRCm39) H99N possibly damaging Het
Crem C A 18: 3,327,527 (GRCm39) C4F probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Decr2 C A 17: 26,307,914 (GRCm39) E46D probably damaging Het
Dlg1 G A 16: 31,610,570 (GRCm39) V284I possibly damaging Het
Dnah3 T C 7: 119,678,629 (GRCm39) E360G probably benign Het
Dnajc1 A T 2: 18,313,757 (GRCm39) Y121* probably null Het
Dnajc13 A G 9: 104,049,773 (GRCm39) F1783L probably damaging Het
Eps8l2 T A 7: 140,940,286 (GRCm39) D505E probably damaging Het
Eral1 G A 11: 77,966,425 (GRCm39) T251I probably benign Het
Eya3 T C 4: 132,422,196 (GRCm39) probably null Het
Fam120a G A 13: 49,034,333 (GRCm39) T1093I probably benign Het
Fbn2 C T 18: 58,159,458 (GRCm39) A2424T probably benign Het
Git2 G A 5: 114,868,412 (GRCm39) T256M probably damaging Het
Gm9805 A T 17: 22,689,871 (GRCm38) Y34F probably benign Het
Itgb7 T G 15: 102,124,642 (GRCm39) T792P probably benign Het
Jakmip1 T A 5: 37,285,966 (GRCm39) I665N probably damaging Het
Kcnt2 T C 1: 140,446,635 (GRCm39) Y677H probably damaging Het
Klhdc4 G A 8: 122,524,783 (GRCm39) P382S probably benign Het
Knl1 TCC TC 2: 118,902,213 (GRCm39) probably null Het
Lamb3 T A 1: 193,022,269 (GRCm39) M1039K possibly damaging Het
Lipm A T 19: 34,078,570 (GRCm39) M1L possibly damaging Het
Lrrc37 A G 11: 103,505,290 (GRCm39) V2226A possibly damaging Het
Magi3 T A 3: 103,922,637 (GRCm39) D1360V probably benign Het
Mier2 C A 10: 79,386,182 (GRCm39) C23F probably damaging Het
Myo1h C T 5: 114,487,643 (GRCm39) R616C probably damaging Het
Nars2 A G 7: 96,622,735 (GRCm39) D187G probably damaging Het
Nbea T C 3: 55,912,824 (GRCm39) M988V probably benign Het
Nlrp4e T C 7: 23,020,043 (GRCm39) F177L probably benign Het
Oas1a A G 5: 121,045,401 (GRCm39) F47L probably damaging Het
Oas1f A G 5: 120,985,545 (GRCm39) E30G probably damaging Het
Obscn A T 11: 58,894,189 (GRCm39) M6689K unknown Het
Obscn A T 11: 59,026,743 (GRCm39) D153E probably damaging Het
Or52s6 A C 7: 103,092,076 (GRCm39) C85G probably damaging Het
Osmr A T 15: 6,882,036 (GRCm39) I36K probably benign Het
Pcf11 A T 7: 92,310,383 (GRCm39) F535Y probably damaging Het
Pde2a C T 7: 101,160,706 (GRCm39) R886C probably damaging Het
Pik3ca T A 3: 32,492,127 (GRCm39) C242S probably benign Het
Pikfyve T A 1: 65,311,674 (GRCm39) D1925E possibly damaging Het
Plekhm2 A T 4: 141,369,316 (GRCm39) Y123N possibly damaging Het
Pomt2 A T 12: 87,169,652 (GRCm39) V406D probably damaging Het
Ppfia2 G C 10: 106,597,978 (GRCm39) L180F probably damaging Het
Prdm10 A T 9: 31,273,708 (GRCm39) T985S probably benign Het
Proc T A 18: 32,256,863 (GRCm39) Y268F probably damaging Het
Prrc1 C T 18: 57,517,320 (GRCm39) T365M probably damaging Het
Rasa1 A T 13: 85,382,567 (GRCm39) D446E probably benign Het
Ribc2 T A 15: 85,025,867 (GRCm39) L281Q probably damaging Het
Runx1t1 A G 4: 13,865,907 (GRCm39) D385G probably damaging Het
Sdk2 A G 11: 113,717,880 (GRCm39) S1495P possibly damaging Het
Slc15a3 G T 19: 10,831,726 (GRCm39) probably null Het
Slc43a3 A G 2: 84,774,869 (GRCm39) N149S probably damaging Het
Specc1l A G 10: 75,082,182 (GRCm39) Q543R probably damaging Het
Spef1 T C 2: 131,014,661 (GRCm39) probably null Het
Spns1 A T 7: 125,969,966 (GRCm39) F478Y probably damaging Het
Srebf2 T C 15: 82,080,370 (GRCm39) V821A probably benign Het
Stac3 A G 10: 127,339,214 (GRCm39) M108V possibly damaging Het
Stradb A G 1: 59,027,730 (GRCm39) T87A probably benign Het
Stxbp5l A T 16: 36,954,592 (GRCm39) M906K probably benign Het
Tex14 T C 11: 87,405,311 (GRCm39) V741A probably benign Het
Thoc2l A C 5: 104,668,265 (GRCm39) E929A possibly damaging Het
Tpo C A 12: 30,125,870 (GRCm39) G830C probably damaging Het
Unc79 T A 12: 103,128,080 (GRCm39) C2308* probably null Het
Vmn1r205 T C 13: 22,777,016 (GRCm39) T29A possibly damaging Het
Vmn1r69 G A 7: 10,314,473 (GRCm39) T7I probably benign Het
Vmn2r27 T G 6: 124,208,596 (GRCm39) T50P possibly damaging Het
Wdr83 A G 8: 85,801,867 (GRCm39) Y302H probably benign Het
Xirp2 A T 2: 67,346,879 (GRCm39) E3040V probably damaging Het
Zfp629 C A 7: 127,209,758 (GRCm39) G684W 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
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'- TCCCAGTGGGTCTTGTAACTG -3'
(R):5'- TATGCTGAACACACCTCAGG -3'

Sequencing Primer
(F):5'- GTAAACTCAGACTTTCTTTAGCCAGC -3'
(R):5'- GTCACCATGACAGAAGGT -3'
Posted On 2015-11-11