Incidental Mutation 'R6018:Nrdc'
ID 478706
Institutional Source Beutler Lab
Gene Symbol Nrdc
Ensembl Gene ENSMUSG00000053510
Gene Name nardilysin convertase
Synonyms NRD-C, Nrd1
MMRRC Submission 044192-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # R6018 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 108857852-108918974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108870944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 190 (D190E)
Ref Sequence ENSEMBL: ENSMUSP00000102255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065977] [ENSMUST00000102736] [ENSMUST00000106644] [ENSMUST00000125645]
AlphaFold Q8BHG1
Predicted Effect probably benign
Transcript: ENSMUST00000065977
AA Change: D190E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000068328
Gene: ENSMUSG00000053510
AA Change: D190E

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 benign
Transcript: ENSMUST00000102736
AA Change: D190E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000099797
Gene: ENSMUSG00000053510
AA Change: D190E

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 noncoding transcript
Transcript: ENSMUST00000103245
Predicted Effect probably benign
Transcript: ENSMUST00000106644
AA Change: D190E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000102255
Gene: ENSMUSG00000053510
AA Change: D190E

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
SMART Domains Protein: ENSMUSP00000122808
Gene: ENSMUSG00000053510

DomainStartEndE-ValueType
Pfam:Peptidase_M16 1 100 6.4e-27 PFAM
Pfam:Peptidase_M16_C 125 311 1.9e-23 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.6%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,448 (GRCm39) Y155N probably damaging Het
1700019A02Rik C T 1: 53,202,405 (GRCm39) probably null Het
2310022B05Rik A G 8: 125,365,853 (GRCm39) F297L probably benign Het
Acbd3 T C 1: 180,579,903 (GRCm39) S516P possibly damaging Het
Agbl3 A G 6: 34,776,190 (GRCm39) N227S probably damaging Het
Ak6 C T 13: 100,802,459 (GRCm39) Q151* probably null Het
Ano4 A G 10: 88,865,128 (GRCm39) L297P probably benign Het
Anxa5 T C 3: 36,504,807 (GRCm39) T252A probably benign Het
Ap5s1 G A 2: 131,054,915 (GRCm39) W212* probably null Het
Arl9 A G 5: 77,155,253 (GRCm39) Q113R probably damaging Het
Atg2b T C 12: 105,627,430 (GRCm39) H519R probably damaging Het
Atp1a2 A G 1: 172,125,579 (GRCm39) probably benign Het
Atp2b1 G A 10: 98,846,622 (GRCm39) A808T probably damaging Het
Bckdhb C A 9: 83,951,237 (GRCm39) T342K probably benign Het
Bdp1 T C 13: 100,174,732 (GRCm39) H1996R probably benign Het
Brix1 C T 15: 10,476,675 (GRCm39) R267H probably benign Het
Ccdc180 A G 4: 45,926,235 (GRCm39) I1148M probably damaging Het
Csf3r T A 4: 125,937,414 (GRCm39) M766K probably benign Het
Ctnnd1 T A 2: 84,480,812 (GRCm39) probably benign Het
Cyp2c39 A T 19: 39,499,436 (GRCm39) N41I probably damaging Het
D2hgdh G T 1: 93,754,182 (GRCm39) V52L probably benign Het
Dppa4 T A 16: 48,109,490 (GRCm39) Y77* probably null Het
Eif4enif1 T C 11: 3,192,481 (GRCm39) S770P probably damaging Het
Fbxl16 A T 17: 26,036,709 (GRCm39) D230V probably damaging Het
Gm4847 G A 1: 166,471,017 (GRCm39) A11V probably damaging Het
Gm9978 C T 10: 78,322,915 (GRCm39) noncoding transcript Het
Gpatch8 A G 11: 102,371,741 (GRCm39) L599P unknown Het
Hdac4 A G 1: 91,886,120 (GRCm39) L254P probably damaging Het
Heatr1 A G 13: 12,419,828 (GRCm39) I384V probably benign Het
Heatr1 A T 13: 12,420,939 (GRCm39) Q410L probably benign Het
Hmcn2 A G 2: 31,260,804 (GRCm39) I1065V probably benign Het
Igkv6-14 A G 6: 70,412,024 (GRCm39) S87P probably damaging Het
Il2rb G T 15: 78,366,266 (GRCm39) Q344K possibly damaging Het
Ipo4 A G 14: 55,863,609 (GRCm39) probably null Het
Ipo9 A G 1: 135,318,274 (GRCm39) probably null Het
Khdrbs1 T C 4: 129,613,887 (GRCm39) T374A probably benign Het
Lamc3 G T 2: 31,795,724 (GRCm39) G370W probably damaging Het
Lipn T A 19: 34,054,335 (GRCm39) L191Q probably damaging Het
Lpl T C 8: 69,353,940 (GRCm39) V427A probably benign Het
Magi3 T C 3: 104,013,128 (GRCm39) S120G probably damaging Het
Mgl2 T C 11: 70,027,937 (GRCm39) *382Q probably null Het
Nab2 G A 10: 127,500,793 (GRCm39) Q100* probably null Het
Nfat5 T A 8: 108,082,283 (GRCm39) probably null Het
Nqo1 T C 8: 108,115,500 (GRCm39) H259R probably damaging Het
Or5m5 T A 2: 85,815,148 (GRCm39) probably benign Het
Osmr G A 15: 6,845,276 (GRCm39) P830L probably damaging Het
Parp14 G A 16: 35,661,827 (GRCm39) P1403S probably benign Het
Pde11a T A 2: 75,848,194 (GRCm39) M878L probably benign Het
Pik3ap1 T C 19: 41,373,455 (GRCm39) probably benign Het
Pla2g3 T C 11: 3,441,916 (GRCm39) L360P probably damaging Het
Plxnc1 A G 10: 94,779,710 (GRCm39) V244A probably benign Het
Pramel16 C T 4: 143,677,469 (GRCm39) A37T possibly damaging Het
Ptpra T C 2: 130,345,422 (GRCm39) V8A probably benign Het
Rbbp5 T C 1: 132,422,078 (GRCm39) V199A probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rp1 A G 1: 4,423,059 (GRCm39) V7A possibly damaging Het
Sdk2 T C 11: 113,720,889 (GRCm39) T1347A probably benign Het
Sgo2a T A 1: 58,056,118 (GRCm39) H767Q probably benign Het
Sis G A 3: 72,820,525 (GRCm39) P1413L possibly damaging Het
Slc22a5 G T 11: 53,766,846 (GRCm39) A214E probably damaging Het
Snx13 G T 12: 35,097,318 (GRCm39) probably benign Het
Sun5 T A 2: 153,700,363 (GRCm39) I295F probably damaging Het
Themis3 C T 17: 66,900,204 (GRCm39) A55T probably damaging Het
Tmem255b T C 8: 13,505,138 (GRCm39) Y148H probably benign Het
Tmem74b A G 2: 151,548,639 (GRCm39) E122G probably damaging Het
Top3b T C 16: 16,710,756 (GRCm39) V862A probably damaging Het
Trim35 A T 14: 66,546,199 (GRCm39) D322V probably damaging Het
Trpm2 A G 10: 77,753,547 (GRCm39) F1319S probably benign Het
Ttn T A 2: 76,785,020 (GRCm39) R756S probably benign Het
Vmn2r108 A T 17: 20,683,268 (GRCm39) N645K possibly damaging Het
Vmn2r73 A G 7: 85,521,875 (GRCm39) S155P possibly damaging Het
Vstm4 G A 14: 32,585,627 (GRCm39) A65T probably benign 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
R6106:Nrdc UTSW 4 108,901,782 (GRCm39) missense probably damaging 0.99
R6114: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'- TGCAGGCACTTTTGATTTCAG -3'
(R):5'- GGAATTGTACAGAGTCTCACCTCC -3'

Sequencing Primer
(F):5'- CAGGCACTTTTGATTTCAGATCTAAG -3'
(R):5'- GTTGCCATTTTTACCTTTAAACAGTG -3'
Posted On 2017-06-26