Incidental Mutation 'R6114:Nrdc'
ID 485004
Institutional Source Beutler Lab
Gene Symbol Nrdc
Ensembl Gene ENSMUSG00000053510
Gene Name nardilysin convertase
Synonyms NRD-C, Nrd1
MMRRC Submission 044263-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # R6114 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 108857852-108918974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108901782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 617 (K617M)
Ref Sequence ENSEMBL: ENSMUSP00000068328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065977] [ENSMUST00000102736] [ENSMUST00000106644] [ENSMUST00000125645]
AlphaFold Q8BHG1
Predicted Effect probably damaging
Transcript: ENSMUST00000065977
AA Change: K617M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068328
Gene: ENSMUSG00000053510
AA Change: K617M

DomainStartEndE-ValueType
low complexity region 139 165 N/A INTRINSIC
low complexity region 172 209 N/A INTRINSIC
Pfam:Peptidase_M16 210 348 1.1e-43 PFAM
Pfam:Peptidase_M16_C 373 559 2.3e-22 PFAM
Pfam:Peptidase_M16_C 849 1032 1.5e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102736
AA Change: K573M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099797
Gene: ENSMUSG00000053510
AA Change: K573M

DomainStartEndE-ValueType
low complexity region 139 165 N/A INTRINSIC
low complexity region 172 209 N/A INTRINSIC
Pfam:Peptidase_M16 210 348 1.4e-43 PFAM
Pfam:Peptidase_M16_C 400 515 1.1e-9 PFAM
Pfam:Peptidase_M16_C 805 988 2e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106644
AA Change: K685M

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102255
Gene: ENSMUSG00000053510
AA Change: K685M

DomainStartEndE-ValueType
low complexity region 139 165 N/A INTRINSIC
coiled coil region 187 225 N/A INTRINSIC
Pfam:Peptidase_M16 281 416 1e-41 PFAM
Pfam:Peptidase_M16_C 441 627 2.2e-23 PFAM
Pfam:Peptidase_M16_M 631 913 1e-91 PFAM
Pfam:Peptidase_M16_C 917 1100 6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125645
AA Change: K369M

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000122808
Gene: ENSMUSG00000053510
AA Change: K369M

DomainStartEndE-ValueType
Pfam:Peptidase_M16 1 100 6.4e-27 PFAM
Pfam:Peptidase_M16_C 125 311 1.9e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150784
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 94% (60/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc-dependent endopeptidase that cleaves peptide substrates at the N-terminus of arginine residues in dibasic moieties and is a member of the peptidase M16 family. This protein interacts with heparin-binding EGF-like growth factor and plays a role in cell migration and proliferation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a knock-out allele mostly die within 48 hours of birth with surviving mice exhibiting cortical thinning, enlarged lateral ventricles, hypomyelination, reduced grip strength, impaired coordination, and impaired spatial working memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 C A 14: 68,809,252 (GRCm39) V237L probably benign Het
Aff1 T C 5: 103,990,163 (GRCm39) S878P probably damaging Het
Ahcy A C 2: 154,904,079 (GRCm39) L386R probably damaging Het
Ank2 T C 3: 126,804,700 (GRCm39) N607D probably damaging Het
Arid5b T C 10: 67,933,574 (GRCm39) D776G possibly damaging Het
Art4 T A 6: 136,834,211 (GRCm39) T11S unknown Het
Blm T C 7: 80,163,235 (GRCm39) T39A probably damaging Het
Cabin1 T A 10: 75,583,805 (GRCm39) M221L probably benign Het
Cacna1c T C 6: 118,573,101 (GRCm39) T1675A probably benign Het
Cacnb2 A T 2: 14,980,012 (GRCm39) H285L possibly damaging Het
Cchcr1 A G 17: 35,836,227 (GRCm39) E339G probably damaging Het
Cd14 A G 18: 36,859,006 (GRCm39) W150R probably damaging Het
Cep162 A G 9: 87,085,763 (GRCm39) I1187T probably benign Het
Cntnap4 A G 8: 113,568,385 (GRCm39) H807R probably damaging Het
Copb1 T A 7: 113,846,036 (GRCm39) H178L probably benign Het
Cpxm2 A G 7: 131,756,035 (GRCm39) V103A probably benign Het
Egfr A G 11: 16,854,374 (GRCm39) T849A possibly damaging Het
Endou T A 15: 97,611,757 (GRCm39) K294* probably null Het
Hoxd9 A G 2: 74,529,709 (GRCm39) N322D probably damaging Het
Hsph1 C A 5: 149,550,852 (GRCm39) V416L possibly damaging Het
Igkv4-78 T A 6: 69,036,743 (GRCm39) T97S possibly damaging Het
Itga10 G T 3: 96,556,351 (GRCm39) C162F probably damaging Het
Lmod2 A G 6: 24,603,691 (GRCm39) E222G probably damaging Het
Lpar5 A G 6: 125,058,639 (GRCm39) N120S probably damaging Het
Lrrc37 T A 11: 103,508,617 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,632,029 (GRCm39) I1318V probably benign Het
Lst1 T C 17: 35,407,336 (GRCm39) T11A possibly damaging Het
Mfn1 C A 3: 32,617,985 (GRCm39) A106D probably damaging Het
Ms4a12 G T 19: 11,192,654 (GRCm39) N227K probably benign Het
Nr1h4 T A 10: 89,314,678 (GRCm39) N273Y possibly damaging Het
Or10a3b A T 7: 108,444,593 (GRCm39) M208K possibly damaging Het
Or1l8 A T 2: 36,817,701 (GRCm39) C142S possibly damaging Het
Or6c202 T A 10: 128,996,202 (GRCm39) H217L probably benign Het
Pcdhgc3 C G 18: 37,940,925 (GRCm39) T442R probably benign Het
Pcnx2 T C 8: 126,500,686 (GRCm39) N1468S probably damaging Het
Pde2a A T 7: 101,160,319 (GRCm39) probably null Het
Pitx2 C G 3: 128,998,062 (GRCm39) probably null Het
Reck T A 4: 43,922,895 (GRCm39) I390N probably damaging Het
Rora A G 9: 69,278,605 (GRCm39) N254S probably benign Het
Samd4b A G 7: 28,222,217 (GRCm39) probably null Het
Scn8a A G 15: 100,938,477 (GRCm39) T1949A probably damaging Het
Slc22a15 A T 3: 101,768,168 (GRCm39) Y346* probably null Het
Slc24a5 A G 2: 124,925,012 (GRCm39) T218A probably benign Het
Slc38a10 G A 11: 120,020,138 (GRCm39) Q305* probably null Het
Slc45a4 G A 15: 73,477,453 (GRCm39) P28S probably damaging Het
Smyd5 A T 6: 85,417,244 (GRCm39) probably benign Het
Sox8 T C 17: 25,786,494 (GRCm39) D403G probably damaging Het
Stx7 A G 10: 24,060,883 (GRCm39) probably null Het
Svil T C 18: 5,108,639 (GRCm39) S1522P probably damaging Het
Sycp2 G C 2: 177,990,038 (GRCm39) R1403G probably benign Het
Tasor2 G A 13: 3,640,081 (GRCm39) T352M probably damaging Het
Tcf25 A T 8: 124,111,114 (GRCm39) K192M probably damaging Het
Tecpr1 C T 5: 144,141,458 (GRCm39) G804S possibly damaging Het
Teddm1a C G 1: 153,767,614 (GRCm39) S26C probably damaging Het
Usp13 C T 3: 32,908,818 (GRCm39) P155S probably damaging Het
Usp17lb T A 7: 104,489,571 (GRCm39) D451V possibly damaging Het
Vmn1r173 A G 7: 23,402,254 (GRCm39) N163S possibly damaging Het
Vmn2r103 G T 17: 20,032,587 (GRCm39) C787F probably damaging Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zbtb40 T A 4: 136,716,002 (GRCm39) I988F probably damaging Het
Zbtb47 T A 9: 121,594,661 (GRCm39) F540Y probably damaging Het
Zfp536 A T 7: 37,179,161 (GRCm39) I84N probably damaging Het
Other mutations in Nrdc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Nrdc APN 4 108,903,884 (GRCm39) unclassified probably benign
IGL00857:Nrdc APN 4 108,911,199 (GRCm39) missense probably damaging 1.00
IGL01417:Nrdc APN 4 108,858,027 (GRCm39) utr 5 prime probably benign
IGL01457:Nrdc APN 4 108,904,857 (GRCm39) missense probably benign 0.03
IGL02112:Nrdc APN 4 108,884,629 (GRCm39) splice site probably benign
IGL02279:Nrdc APN 4 108,881,391 (GRCm39) splice site probably benign
IGL02332:Nrdc APN 4 108,858,185 (GRCm39) missense probably damaging 0.99
IGL02890:Nrdc APN 4 108,911,116 (GRCm39) missense possibly damaging 0.55
IGL03179:Nrdc APN 4 108,903,888 (GRCm39) unclassified probably benign
PIT4354001:Nrdc UTSW 4 108,911,222 (GRCm39) critical splice donor site probably null
R0551:Nrdc UTSW 4 108,904,905 (GRCm39) missense probably damaging 1.00
R1468:Nrdc UTSW 4 108,873,865 (GRCm39) missense probably benign 0.01
R1468:Nrdc UTSW 4 108,873,865 (GRCm39) missense probably benign 0.01
R1990:Nrdc UTSW 4 108,896,972 (GRCm39) nonsense probably null
R4391:Nrdc UTSW 4 108,903,841 (GRCm39) missense probably damaging 1.00
R4994:Nrdc UTSW 4 108,903,809 (GRCm39) missense probably benign
R5164:Nrdc UTSW 4 108,896,914 (GRCm39) missense probably damaging 0.99
R5229:Nrdc UTSW 4 108,906,305 (GRCm39) missense probably damaging 1.00
R5387:Nrdc UTSW 4 108,896,959 (GRCm39) missense probably damaging 1.00
R5530:Nrdc UTSW 4 108,904,806 (GRCm39) missense probably damaging 0.96
R5672:Nrdc UTSW 4 108,895,242 (GRCm39) nonsense probably null
R5990:Nrdc UTSW 4 108,876,268 (GRCm39) missense probably damaging 1.00
R6018:Nrdc UTSW 4 108,870,944 (GRCm39) missense probably benign 0.01
R6106:Nrdc UTSW 4 108,901,782 (GRCm39) missense probably damaging 0.99
R6140:Nrdc UTSW 4 108,906,308 (GRCm39) missense probably damaging 0.97
R6285:Nrdc UTSW 4 108,895,203 (GRCm39) missense probably damaging 0.99
R6824:Nrdc UTSW 4 108,900,622 (GRCm39) missense probably damaging 1.00
R7019:Nrdc UTSW 4 108,885,999 (GRCm39) missense probably benign 0.33
R7353:Nrdc UTSW 4 108,896,946 (GRCm39) missense probably damaging 1.00
R7735:Nrdc UTSW 4 108,895,182 (GRCm39) missense probably damaging 1.00
R8261:Nrdc UTSW 4 108,873,876 (GRCm39) missense possibly damaging 0.67
R8340:Nrdc UTSW 4 108,858,351 (GRCm39) missense probably damaging 1.00
R8352:Nrdc UTSW 4 108,876,260 (GRCm39) missense probably damaging 0.98
R8368:Nrdc UTSW 4 108,870,895 (GRCm39) missense probably benign 0.02
R8452:Nrdc UTSW 4 108,876,260 (GRCm39) missense probably damaging 0.98
R9350:Nrdc UTSW 4 108,889,658 (GRCm39) missense possibly damaging 0.93
R9428:Nrdc UTSW 4 108,858,121 (GRCm39) missense probably damaging 0.99
R9516:Nrdc UTSW 4 108,901,863 (GRCm39) missense probably benign
R9526:Nrdc UTSW 4 108,915,833 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCACTGAACATCATGACACTGTAG -3'
(R):5'- TTTGTCTCCATAAGAACCACCAAAG -3'

Sequencing Primer
(F):5'- GATTTCTGAGTTCCAGGACAGCC -3'
(R):5'- TCAGCAGTAGAGAGTTCCTGC -3'
Posted On 2017-08-16