Incidental Mutation 'P0012:Nup205'
ID 7562
Institutional Source Beutler Lab
Gene Symbol Nup205
Ensembl Gene ENSMUSG00000038759
Gene Name nucleoporin 205
Synonyms 3830404O05Rik
MMRRC Submission 038266-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # P0012 (G1)
Quality Score
Status Validated
Chromosome 6
Chromosomal Location 35154551-35224534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35173478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 496 (M496T)
Ref Sequence ENSEMBL: ENSMUSP00000144126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043815] [ENSMUST00000170234] [ENSMUST00000201374]
AlphaFold A0A0J9YUD5
Predicted Effect possibly damaging
Transcript: ENSMUST00000043815
AA Change: M443T

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: M443T

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Nup192 14 1684 N/A PFAM
low complexity region 1995 2005 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170234
SMART Domains Protein: ENSMUSP00000130033
Gene: ENSMUSG00000038759

DomainStartEndE-ValueType
Pfam:DUF3414 13 322 9.7e-98 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000201374
AA Change: M496T

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: M496T

DomainStartEndE-ValueType
low complexity region 36 50 N/A INTRINSIC
Pfam:Nup192 67 1737 N/A PFAM
low complexity region 2048 2058 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202898
Meta Mutation Damage Score 0.8482 question?
Coding Region Coverage
  • 1x: 85.5%
  • 3x: 81.0%
  • 10x: 67.7%
  • 20x: 52.2%
Validation Efficiency 85% (579/685)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]
Allele List at MGI

All alleles(32) : Targeted(2) Gene trapped(30)

Other mutations in this stock
Total: 9 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 A C 7: 82,223,465 (GRCm39) N156T probably benign Het
Akap3 T C 6: 126,841,564 (GRCm39) F61S possibly damaging Het
Arhgap1 T C 2: 91,500,608 (GRCm39) V379A probably benign Het
Ces1h T C 8: 94,080,138 (GRCm39) K459E unknown Het
Fbn1 T C 2: 125,211,241 (GRCm39) probably benign Het
Hrh2 T C 13: 54,368,447 (GRCm39) F141S probably benign Het
Igkv3-4 A T 6: 70,649,231 (GRCm39) N77Y probably benign Het
Tas2r124 T C 6: 132,732,503 (GRCm39) Y271H possibly damaging Het
Tnfrsf11b A G 15: 54,123,194 (GRCm39) probably benign Het
Other mutations in Nup205
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Nup205 APN 6 35,191,737 (GRCm39) missense probably damaging 1.00
IGL01086:Nup205 APN 6 35,185,871 (GRCm39) splice site probably benign
IGL01138:Nup205 APN 6 35,185,019 (GRCm39) nonsense probably null
IGL01333:Nup205 APN 6 35,217,998 (GRCm39) missense probably benign
IGL01399:Nup205 APN 6 35,196,624 (GRCm39) missense possibly damaging 0.80
IGL01466:Nup205 APN 6 35,176,894 (GRCm39) missense probably benign 0.08
IGL01913:Nup205 APN 6 35,204,365 (GRCm39) missense probably benign 0.10
IGL02159:Nup205 APN 6 35,166,113 (GRCm39) missense probably damaging 1.00
IGL02442:Nup205 APN 6 35,167,003 (GRCm39) missense probably benign 0.01
IGL02447:Nup205 APN 6 35,204,511 (GRCm39) splice site probably null
IGL02558:Nup205 APN 6 35,166,859 (GRCm39) missense probably damaging 1.00
IGL03306:Nup205 APN 6 35,185,104 (GRCm39) missense probably damaging 0.98
IGL03328:Nup205 APN 6 35,209,349 (GRCm39) missense probably damaging 0.99
Figaro UTSW 6 35,173,649 (GRCm39) splice site probably null
Marcellina UTSW 6 35,160,904 (GRCm39) missense probably damaging 1.00
Spirit UTSW 6 35,209,343 (GRCm39) missense probably damaging 0.98
Susanna UTSW 6 35,185,044 (GRCm39) missense possibly damaging 0.94
voyager UTSW 6 35,166,820 (GRCm39) missense possibly damaging 0.80
BB007:Nup205 UTSW 6 35,171,511 (GRCm39) missense probably damaging 0.98
BB017:Nup205 UTSW 6 35,171,511 (GRCm39) missense probably damaging 0.98
R0102:Nup205 UTSW 6 35,202,715 (GRCm39) splice site probably benign
R0102:Nup205 UTSW 6 35,202,715 (GRCm39) splice site probably benign
R0362:Nup205 UTSW 6 35,173,649 (GRCm39) splice site probably null
R0374:Nup205 UTSW 6 35,185,772 (GRCm39) missense probably damaging 1.00
R0415:Nup205 UTSW 6 35,191,569 (GRCm39) splice site probably benign
R0427:Nup205 UTSW 6 35,171,398 (GRCm39) missense probably benign 0.01
R0543:Nup205 UTSW 6 35,175,904 (GRCm39) missense probably benign
R0611:Nup205 UTSW 6 35,202,903 (GRCm39) missense probably null 1.00
R0761:Nup205 UTSW 6 35,173,363 (GRCm39) splice site probably benign
R0828:Nup205 UTSW 6 35,171,501 (GRCm39) missense probably benign
R0906:Nup205 UTSW 6 35,213,827 (GRCm39) missense probably damaging 1.00
R1023:Nup205 UTSW 6 35,211,641 (GRCm39) missense probably damaging 0.98
R1033:Nup205 UTSW 6 35,204,377 (GRCm39) missense probably benign
R1375:Nup205 UTSW 6 35,177,006 (GRCm39) splice site probably benign
R1447:Nup205 UTSW 6 35,192,120 (GRCm39) missense probably benign 0.00
R1468:Nup205 UTSW 6 35,202,917 (GRCm39) critical splice donor site probably null
R1468:Nup205 UTSW 6 35,202,917 (GRCm39) critical splice donor site probably null
R1625:Nup205 UTSW 6 35,168,878 (GRCm39) missense probably benign 0.31
R1652:Nup205 UTSW 6 35,215,901 (GRCm39) missense probably benign
R1659:Nup205 UTSW 6 35,211,723 (GRCm39) missense probably benign 0.02
R1693:Nup205 UTSW 6 35,187,906 (GRCm39) missense probably benign 0.05
R1769:Nup205 UTSW 6 35,182,366 (GRCm39) missense probably damaging 1.00
R1839:Nup205 UTSW 6 35,196,649 (GRCm39) missense probably benign 0.00
R1959:Nup205 UTSW 6 35,210,301 (GRCm39) missense probably benign 0.16
R2051:Nup205 UTSW 6 35,207,451 (GRCm39) missense probably benign 0.29
R2267:Nup205 UTSW 6 35,218,284 (GRCm39) missense possibly damaging 0.67
R2401:Nup205 UTSW 6 35,185,069 (GRCm39) nonsense probably null
R3697:Nup205 UTSW 6 35,165,646 (GRCm39) missense probably benign 0.15
R3938:Nup205 UTSW 6 35,196,677 (GRCm39) missense probably damaging 1.00
R4074:Nup205 UTSW 6 35,168,975 (GRCm39) critical splice donor site probably null
R4117:Nup205 UTSW 6 35,217,947 (GRCm39) nonsense probably null
R4364:Nup205 UTSW 6 35,168,962 (GRCm39) missense probably benign 0.38
R4366:Nup205 UTSW 6 35,168,962 (GRCm39) missense probably benign 0.38
R4594:Nup205 UTSW 6 35,173,424 (GRCm39) missense probably benign 0.00
R4706:Nup205 UTSW 6 35,178,943 (GRCm39) missense probably damaging 1.00
R4787:Nup205 UTSW 6 35,178,996 (GRCm39) missense probably damaging 1.00
R4849:Nup205 UTSW 6 35,207,505 (GRCm39) missense possibly damaging 0.90
R4850:Nup205 UTSW 6 35,207,465 (GRCm39) missense probably benign 0.16
R4943:Nup205 UTSW 6 35,201,574 (GRCm39) missense probably damaging 1.00
R4966:Nup205 UTSW 6 35,220,784 (GRCm39) missense probably benign 0.00
R5138:Nup205 UTSW 6 35,202,801 (GRCm39) missense probably damaging 1.00
R5251:Nup205 UTSW 6 35,173,417 (GRCm39) splice site probably null
R5444:Nup205 UTSW 6 35,166,124 (GRCm39) missense probably damaging 0.98
R5760:Nup205 UTSW 6 35,224,278 (GRCm39) missense probably damaging 1.00
R5762:Nup205 UTSW 6 35,207,483 (GRCm39) missense probably damaging 0.96
R5762:Nup205 UTSW 6 35,204,615 (GRCm39) missense probably damaging 1.00
R5941:Nup205 UTSW 6 35,209,343 (GRCm39) missense probably damaging 0.98
R5969:Nup205 UTSW 6 35,154,513 (GRCm39) unclassified probably benign
R6003:Nup205 UTSW 6 35,189,751 (GRCm39) missense probably benign
R6178:Nup205 UTSW 6 35,220,778 (GRCm39) missense possibly damaging 0.85
R6315:Nup205 UTSW 6 35,213,804 (GRCm39) missense probably damaging 1.00
R6392:Nup205 UTSW 6 35,166,820 (GRCm39) missense possibly damaging 0.80
R6710:Nup205 UTSW 6 35,224,308 (GRCm39) missense probably benign 0.00
R6954:Nup205 UTSW 6 35,185,044 (GRCm39) missense possibly damaging 0.94
R7022:Nup205 UTSW 6 35,220,871 (GRCm39) missense probably benign 0.45
R7041:Nup205 UTSW 6 35,201,470 (GRCm39) missense possibly damaging 0.49
R7052:Nup205 UTSW 6 35,192,077 (GRCm39) missense possibly damaging 0.81
R7310:Nup205 UTSW 6 35,202,904 (GRCm39) missense possibly damaging 0.78
R7363:Nup205 UTSW 6 35,209,508 (GRCm39) missense probably benign 0.28
R7399:Nup205 UTSW 6 35,191,611 (GRCm39) missense probably damaging 0.99
R7428:Nup205 UTSW 6 35,204,494 (GRCm39) missense probably damaging 1.00
R7553:Nup205 UTSW 6 35,178,934 (GRCm39) missense probably damaging 1.00
R7665:Nup205 UTSW 6 35,154,555 (GRCm39) missense possibly damaging 0.46
R7841:Nup205 UTSW 6 35,224,372 (GRCm39) missense unknown
R7930:Nup205 UTSW 6 35,171,511 (GRCm39) missense probably damaging 0.98
R7973:Nup205 UTSW 6 35,222,274 (GRCm39) missense probably benign
R7976:Nup205 UTSW 6 35,175,888 (GRCm39) missense probably damaging 1.00
R8073:Nup205 UTSW 6 35,179,104 (GRCm39) critical splice donor site probably null
R8080:Nup205 UTSW 6 35,204,311 (GRCm39) missense probably damaging 1.00
R8118:Nup205 UTSW 6 35,207,451 (GRCm39) missense probably benign 0.29
R8213:Nup205 UTSW 6 35,202,138 (GRCm39) missense probably benign 0.26
R8237:Nup205 UTSW 6 35,204,438 (GRCm39) missense possibly damaging 0.89
R8408:Nup205 UTSW 6 35,202,182 (GRCm39) missense probably damaging 1.00
R8807:Nup205 UTSW 6 35,160,904 (GRCm39) missense probably damaging 1.00
R8812:Nup205 UTSW 6 35,191,269 (GRCm39) missense probably damaging 1.00
R9061:Nup205 UTSW 6 35,196,808 (GRCm39) intron probably benign
R9261:Nup205 UTSW 6 35,176,792 (GRCm39) missense probably benign 0.00
R9403:Nup205 UTSW 6 35,176,909 (GRCm39) missense probably benign 0.45
R9648:Nup205 UTSW 6 35,202,746 (GRCm39) missense probably benign 0.00
R9744:Nup205 UTSW 6 35,209,510 (GRCm39) missense probably damaging 0.99
R9800:Nup205 UTSW 6 35,163,468 (GRCm39) missense possibly damaging 0.85
Z1177:Nup205 UTSW 6 35,185,728 (GRCm39) critical splice acceptor site probably null
Z1177:Nup205 UTSW 6 35,154,540 (GRCm39) missense unknown
Protein Function and Prediction

NUP205 is a subunit of the nuclear pore complex, which functions in active transport of molecules between the nucleus and cytoplasm (1).  In Caenorhabditis elegans, Nup205 and Nup93 are required for normal nuclear pore complex (NPC) distribution in the nuclear envelope (2).  Depletion of Nup93 or Nup205 caused defects in NPC exclusion with a concomitant defect in chromatin condensation, resulting in early embryonic arrest (2).

References
Posted On 2012-10-04
Science Writer Anne Murray