Incidental Mutation 'R3938:Nup205'
ID 307269
Institutional Source Beutler Lab
Gene Symbol Nup205
Ensembl Gene ENSMUSG00000038759
Gene Name nucleoporin 205
Synonyms 3830404O05Rik
MMRRC Submission 040825-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R3938 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 35154551-35224534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35196677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 1138 (R1138G)
Ref Sequence ENSEMBL: ENSMUSP00000144126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043815] [ENSMUST00000170234] [ENSMUST00000201374]
AlphaFold A0A0J9YUD5
Predicted Effect probably damaging
Transcript: ENSMUST00000043815
AA Change: R1085G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: R1085G

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 damaging
Transcript: ENSMUST00000201374
AA Change: R1138G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: R1138G

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
Meta Mutation Damage Score 0.9023 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (57/58)
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
Adamts1 C T 16: 85,592,507 (GRCm39) V634M possibly damaging Het
Arid4b A T 13: 14,361,513 (GRCm39) N659I probably benign Het
BC049715 T C 6: 136,817,453 (GRCm39) I231T possibly damaging Het
Bmp4 T C 14: 46,621,536 (GRCm39) Y336C probably damaging Het
Ccdc30 G A 4: 119,209,870 (GRCm39) T293I probably benign Het
Chd5 A T 4: 152,461,512 (GRCm39) T1275S probably benign Het
Chtf8 A T 8: 107,612,537 (GRCm39) M134K probably benign Het
Col11a2 A T 17: 34,258,599 (GRCm39) probably benign Het
Cyp8b1 A G 9: 121,744,684 (GRCm39) V216A probably benign Het
Dnah8 C T 17: 31,073,911 (GRCm39) T4527M probably damaging Het
Elavl3 A G 9: 21,930,040 (GRCm39) V288A probably damaging Het
Erap1 T A 13: 74,816,147 (GRCm39) L92Q probably damaging Het
Exoc3l G T 8: 106,020,037 (GRCm39) P296H probably damaging Het
Fcgbpl1 C T 7: 27,853,719 (GRCm39) P1561L probably damaging Het
Foxl3 A T 5: 138,806,723 (GRCm39) N78Y probably damaging Het
Hacl1 T C 14: 31,356,148 (GRCm39) probably benign Het
Hrnr T A 3: 93,230,162 (GRCm39) N133K probably benign Het
Itgax G T 7: 127,735,445 (GRCm39) R504S possibly damaging Het
Itgb4 A G 11: 115,896,752 (GRCm39) S1461G possibly damaging Het
Klkb1 G T 8: 45,735,838 (GRCm39) T175K probably damaging Het
Lrrk2 A T 15: 91,596,983 (GRCm39) D525V possibly damaging Het
Lrrk2 C A 15: 91,662,707 (GRCm39) T1912K probably damaging Het
Mdga1 G T 17: 30,076,596 (GRCm39) Q59K probably damaging Het
Mpp4 A G 1: 59,163,842 (GRCm39) V466A possibly damaging Het
Myh6 T C 14: 55,200,512 (GRCm39) D203G probably benign Het
Myo5b T C 18: 74,849,108 (GRCm39) S1116P probably damaging Het
Nemp1 T C 10: 127,531,342 (GRCm39) L311P probably damaging Het
Nup54 A G 5: 92,565,388 (GRCm39) M443T probably damaging Het
Peak1 T C 9: 56,167,649 (GRCm39) E93G probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plekhj1 A G 10: 80,633,609 (GRCm39) I76T probably damaging Het
Poll A G 19: 45,546,857 (GRCm39) probably benign Het
Ppp1r3a A T 6: 14,719,073 (GRCm39) S614T probably damaging Het
Pygm A T 19: 6,442,980 (GRCm39) I556F probably benign Het
Ranbp2 T C 10: 58,312,294 (GRCm39) F1005L probably benign Het
Rcor3 G T 1: 191,785,385 (GRCm39) T361K possibly damaging Het
Robo4 A G 9: 37,313,313 (GRCm39) probably benign Het
Rps15 T C 10: 80,129,673 (GRCm39) V96A probably benign Het
Rrm2 T A 12: 24,759,431 (GRCm39) N55K probably damaging Het
Shank2 T C 7: 143,682,112 (GRCm39) Y382H probably benign Het
Slc25a10 G T 11: 120,382,819 (GRCm39) E3* probably null Het
Slc7a8 T A 14: 54,973,298 (GRCm39) E223V probably benign Het
Snx13 A G 12: 35,194,096 (GRCm39) K880E probably benign Het
Spinkl T G 18: 44,301,216 (GRCm39) M41L probably benign Het
Srp54a A C 12: 55,136,042 (GRCm39) N19T probably benign Het
Sun2 T C 15: 79,618,356 (GRCm39) K268E probably benign Het
Sytl1 G A 4: 132,982,935 (GRCm39) Q359* probably null Het
Tlr6 A T 5: 65,110,938 (GRCm39) F656L probably damaging Het
Tmem185a C T X: 69,505,792 (GRCm39) probably null Het
Tmem45a2 C T 16: 56,859,398 (GRCm39) D278N probably benign Het
Trav7-1 T C 14: 52,892,791 (GRCm39) probably benign Het
Trpc2 T A 7: 101,742,781 (GRCm39) M597K probably damaging Het
Ttc21a A G 9: 119,779,882 (GRCm39) probably benign Het
Usp9y C T Y: 1,313,741 (GRCm39) M2188I probably damaging Het
Utrn C A 10: 12,625,774 (GRCm39) probably null Het
Vmn1r35 T A 6: 66,656,057 (GRCm39) R204S probably damaging Het
Zfp955b T A 17: 33,524,390 (GRCm39) Y59F probably damaging 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
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
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'- GGCAATGTCAGTACTCTTAGCTG -3'
(R):5'- GGGTACAGTCTCAAGATACCTAATATG -3'

Sequencing Primer
(F):5'- TTAAGAGCACTCACTGGCTG -3'
(R):5'- TATGCCTGTAATTCCAGCCAAGG -3'
Posted On 2015-04-17