Incidental Mutation 'R7204:Nlrc5'
ID 560451
Institutional Source Beutler Lab
Gene Symbol Nlrc5
Ensembl Gene ENSMUSG00000074151
Gene Name NLR family, CARD domain containing 5
Synonyms AI451557
MMRRC Submission 045282-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7204 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 95160984-95253900 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95218153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1056 (V1056D)
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 possibly damaging
Transcript: ENSMUST00000053085
AA Change: V1056D

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138322
Gene: ENSMUSG00000074151
AA Change: V1056D

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: ENSMUST00000182409
AA Change: V1056D

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000183132
Predicted Effect possibly damaging
Transcript: ENSMUST00000211816
AA Change: V1056D

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.6841 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (75/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik T C 8: 84,730,636 (GRCm39) S227P probably damaging Het
Acot6 A G 12: 84,153,301 (GRCm39) H181R probably benign Het
Adam15 A T 3: 89,254,244 (GRCm39) H184Q probably benign Het
Agl A G 3: 116,587,469 (GRCm39) F29L probably benign Het
Ak7 A G 12: 105,708,502 (GRCm39) Y319C probably benign Het
Ano8 C A 8: 71,931,669 (GRCm39) V813L probably benign Het
Apbb2 T G 5: 66,608,946 (GRCm39) K234Q probably damaging Het
Arfgef3 A T 10: 18,522,210 (GRCm39) D605E probably damaging Het
Bfsp2 C A 9: 103,309,865 (GRCm39) R340L probably damaging Het
Birc6 C A 17: 74,947,103 (GRCm39) P2956T probably damaging Het
C1rb T C 6: 124,554,386 (GRCm39) I389T probably benign Het
Ccdc146 A G 5: 21,513,624 (GRCm39) F498S probably benign Het
Cdc14b A C 13: 64,358,012 (GRCm39) V361G possibly damaging Het
Cdc25b A T 2: 131,033,552 (GRCm39) I164F probably damaging Het
Col18a1 A G 10: 76,921,110 (GRCm39) S297P unknown Het
Col3a1 A T 1: 45,361,578 (GRCm39) I117F unknown Het
Cox4i2 AG A 2: 152,602,618 (GRCm39) probably null Het
Crybg3 C A 16: 59,379,253 (GRCm39) G667V probably benign Het
Ctc1 A G 11: 68,920,567 (GRCm39) D623G probably damaging Het
Dennd1a A T 2: 37,929,215 (GRCm39) H152Q probably damaging Het
Dgke G A 11: 88,932,306 (GRCm39) P495S probably damaging Het
Dll3 A T 7: 27,998,330 (GRCm39) C212S possibly damaging Het
Dll4 A T 2: 119,159,054 (GRCm39) S235C probably damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah12 A T 14: 26,503,442 (GRCm39) T1599S probably damaging Het
Elavl1 G A 8: 4,361,712 (GRCm39) T20M probably damaging Het
Epha3 T C 16: 63,472,695 (GRCm39) T397A probably benign Het
Fanca A T 8: 124,013,216 (GRCm39) I859N probably damaging Het
Fzd1 A T 5: 4,805,980 (GRCm39) V534D probably damaging Het
Glmp A G 3: 88,233,917 (GRCm39) Y258C probably damaging Het
Gm9195 G A 14: 72,711,626 (GRCm39) P329S probably damaging Het
Gpt A G 15: 76,583,199 (GRCm39) R379G probably benign Het
Gsdmc2 T C 15: 63,696,903 (GRCm39) T423A probably damaging Het
Hemgn T C 4: 46,397,054 (GRCm39) K61E possibly damaging Het
Ikzf4 A T 10: 128,479,759 (GRCm39) S56T possibly damaging Het
Jak1 T C 4: 101,032,332 (GRCm39) T425A probably benign Het
Jsrp1 T C 10: 80,646,319 (GRCm39) T80A probably benign Het
Klra9 T A 6: 130,165,643 (GRCm39) D124V possibly damaging Het
Lama5 A T 2: 179,843,970 (GRCm39) V397D probably damaging Het
Lrp2 A G 2: 69,302,877 (GRCm39) S2951P probably benign Het
Map7d1 A G 4: 126,149,808 (GRCm39) probably null Het
Mcm6 A T 1: 128,265,864 (GRCm39) C636S probably damaging Het
Mia T C 7: 26,880,358 (GRCm39) E39G possibly damaging Het
Mpeg1 T A 19: 12,440,258 (GRCm39) I572N probably damaging Het
Muc21 AGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCAGTGCTGGATACAGTGGTGGTC AGCTGGATACAGTGGTGGTC 17: 35,932,105 (GRCm39) probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Mup5 A G 4: 61,751,992 (GRCm39) Y86H probably damaging Het
Nckap5 A T 1: 125,954,104 (GRCm39) V816D probably benign Het
Nfib T C 4: 82,215,052 (GRCm39) probably null Het
Nynrin G C 14: 56,110,190 (GRCm39) E1766Q probably damaging Het
Or7d9 A T 9: 20,197,100 (GRCm39) Y43F probably benign Het
Oxct1 T A 15: 4,123,524 (GRCm39) L328Q probably damaging Het
Pax5 T A 4: 44,679,485 (GRCm39) I187F possibly damaging Het
Pcdhb4 A T 18: 37,442,292 (GRCm39) D534V probably damaging Het
Pebp4 C T 14: 70,085,046 (GRCm39) P35S probably benign Het
Pkhd1l1 T A 15: 44,386,949 (GRCm39) V1274E possibly damaging Het
Plcz1 A T 6: 139,956,150 (GRCm39) V373D probably benign Het
Plxnb1 C T 9: 108,929,243 (GRCm39) T33I probably damaging Het
Prag1 T C 8: 36,613,915 (GRCm39) C1156R probably benign Het
Ptprc T A 1: 138,045,600 (GRCm39) I87F probably benign Het
Rbp4 G A 19: 38,112,551 (GRCm39) T138I possibly damaging Het
Semp2l2b A G 10: 21,943,785 (GRCm39) L65P probably damaging Het
Slc12a1 A T 2: 125,042,542 (GRCm39) N733Y possibly damaging Het
Slc27a3 A G 3: 90,297,033 (GRCm39) V22A probably benign Het
Tcaf1 T C 6: 42,651,973 (GRCm39) probably null Het
Tnc T C 4: 63,889,392 (GRCm39) probably null Het
Tspan31 A T 10: 126,903,987 (GRCm39) *211R probably null Het
Ttc17 A T 2: 94,192,773 (GRCm39) V86D possibly damaging Het
Ubr1 T A 2: 120,734,558 (GRCm39) N1114I possibly damaging Het
Ulk2 C T 11: 61,674,457 (GRCm39) G850R probably benign Het
Vmn1r13 T A 6: 57,187,141 (GRCm39) I100N probably benign Het
Zan T C 5: 137,426,240 (GRCm39) D2512G unknown Het
Zc3h14 A T 12: 98,737,615 (GRCm39) N34I probably damaging Het
Zcwpw1 T G 5: 137,810,346 (GRCm39) L374R probably damaging Het
Zfp747l1 A T 7: 126,983,518 (GRCm39) I528K possibly 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
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'- ACAGCTGTGCAGTGAAGTTG -3'
(R):5'- TGGTACCATGGAGCCACAAAC -3'

Sequencing Primer
(F):5'- GGGGAGGGTTGTGATGGTC -3'
(R):5'- GGAGCCACAAACTTTACTGATTC -3'
Posted On 2019-06-26