Incidental Mutation 'R0102:Nup205'
ID 63290
Institutional Source Beutler Lab
Gene Symbol Nup205
Ensembl Gene ENSMUSG00000038759
Gene Name nucleoporin 205
Synonyms 3830404O05Rik
MMRRC Submission 038388-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R0102 (G1)
Quality Score 123
Status Validated
Chromosome 6
Chromosomal Location 35154551-35224534 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 35202715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043815] [ENSMUST00000170234] [ENSMUST00000201374]
AlphaFold A0A0J9YUD5
Predicted Effect probably benign
Transcript: ENSMUST00000043815
SMART Domains Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759

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 probably benign
Transcript: ENSMUST00000201374
SMART Domains Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759

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: ENSMUST00000201609
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201842
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 91.8%
Validation Efficiency 98% (65/66)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,874 (GRCm39) K1021R probably damaging Het
2610528J11Rik G A 4: 118,386,762 (GRCm39) V36M probably damaging Het
4930402F06Rik T A 2: 35,265,795 (GRCm39) R292* probably null Het
Abcb4 T C 5: 8,959,194 (GRCm39) F207S probably damaging Het
Afap1l2 G T 19: 56,916,872 (GRCm39) probably benign Het
Arfgef2 A T 2: 166,687,385 (GRCm39) H203L probably benign Het
Cfi A C 3: 129,642,416 (GRCm39) H90P probably damaging Het
Col1a2 T A 6: 4,520,775 (GRCm39) S371T possibly damaging Het
Cyp2d10 C T 15: 82,288,794 (GRCm39) M229I probably benign Het
Dnah5 A G 15: 28,245,897 (GRCm39) probably benign Het
Dnttip2 G T 3: 122,069,452 (GRCm39) M222I probably benign Het
Dync1li2 A T 8: 105,154,757 (GRCm39) Y284N probably benign Het
Ebf1 T C 11: 44,882,282 (GRCm39) Y413H probably benign Het
Exog A G 9: 119,281,319 (GRCm39) T186A possibly damaging Het
Fam171a2 T C 11: 102,334,939 (GRCm39) N66S possibly damaging Het
Gad1 G A 2: 70,417,583 (GRCm39) probably null Het
Golgb1 C A 16: 36,695,830 (GRCm39) probably benign Het
Gprc5a A T 6: 135,056,033 (GRCm39) N160I probably damaging Het
Haus3 A G 5: 34,323,258 (GRCm39) probably null Het
Klhl20 A T 1: 160,918,015 (GRCm39) C90* probably null Het
Krt84 T A 15: 101,437,138 (GRCm39) I342L probably damaging Het
Lifr G A 15: 7,208,373 (GRCm39) D584N probably damaging Het
Lrp1b G A 2: 41,298,997 (GRCm39) probably benign Het
Lrtm1 T A 14: 28,744,184 (GRCm39) probably benign Het
Med25 C T 7: 44,534,904 (GRCm39) V80I possibly damaging Het
Mest A G 6: 30,746,269 (GRCm39) I279V probably damaging Het
Mki67 T C 7: 135,315,532 (GRCm39) R81G probably benign Het
Naa25 A G 5: 121,573,632 (GRCm39) D787G possibly damaging Het
Naaladl1 C T 19: 6,162,534 (GRCm39) P465S probably damaging Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Necab3 G A 2: 154,387,232 (GRCm39) R302C probably damaging Het
Nsg1 A T 5: 38,316,254 (GRCm39) D32E probably damaging Het
Nuggc A G 14: 65,851,000 (GRCm39) D290G probably null Het
Or11g27 T A 14: 50,771,088 (GRCm39) L73Q probably damaging Het
Or2w6 T C 13: 21,842,905 (GRCm39) D196G probably damaging Het
Or4a77 T C 2: 89,486,999 (GRCm39) N262S probably benign Het
Or4c111 T C 2: 88,844,015 (GRCm39) Y131C probably damaging Het
Or4f57 G C 2: 111,790,942 (GRCm39) Q159E probably damaging Het
Or8h10 A T 2: 86,808,549 (GRCm39) I197N possibly damaging Het
Otp T C 13: 95,013,663 (GRCm39) V27A probably benign Het
Phip A T 9: 82,787,845 (GRCm39) probably null Het
Pon2 A G 6: 5,289,091 (GRCm39) probably benign Het
Ppp1r12b T A 1: 134,763,637 (GRCm39) probably null Het
Ppp1r15b A G 1: 133,060,908 (GRCm39) N475S probably damaging Het
Prrt3 A T 6: 113,474,790 (GRCm39) L144H probably damaging Het
Psmb7 A G 2: 38,533,377 (GRCm39) V50A possibly damaging Het
Sacs T A 14: 61,442,017 (GRCm39) S1354R probably damaging Het
Sdcbp2 A G 2: 151,425,884 (GRCm39) T29A probably benign Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Shcbp1 A G 8: 4,794,452 (GRCm39) I447T probably damaging Het
Tbc1d9b T C 11: 50,026,676 (GRCm39) V48A probably damaging Het
Thbd A T 2: 148,248,903 (GRCm39) C322S probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trappc12 A T 12: 28,796,751 (GRCm39) F260L probably damaging Het
Trim10 C A 17: 37,181,074 (GRCm39) H102N probably damaging Het
Ube2u A G 4: 100,407,122 (GRCm39) T215A possibly damaging Het
Vcan T G 13: 89,851,787 (GRCm39) T1058P 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
P0012:Nup205 UTSW 6 35,173,478 (GRCm39) missense possibly damaging 0.90
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
Predicted Primers PCR Primer
(F):5'- GCCTCTGCTGATGGAGGTAAGC -3'
(R):5'- TCGGTCTTCTGCCTGGATGAGC -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- AGCTCCTGAGGACAAGCTG -3'
Posted On 2013-07-30