Incidental Mutation 'R4706:Nup205'
ID 355216
Institutional Source Beutler Lab
Gene Symbol Nup205
Ensembl Gene ENSMUSG00000038759
Gene Name nucleoporin 205
Synonyms 3830404O05Rik
MMRRC Submission 041954-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R4706 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 35154551-35224534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35178943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 671 (L671P)
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: L618P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: L618P

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: L671P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: L671P

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: ENSMUST00000202898
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,064,988 (GRCm39) N548K probably damaging Het
Abcd2 T C 15: 91,043,385 (GRCm39) D601G probably benign Het
Afap1l2 A T 19: 56,925,672 (GRCm39) I152N possibly damaging Het
Ankrd52 T G 10: 128,214,030 (GRCm39) M62R probably benign Het
Aox4 A T 1: 58,305,946 (GRCm39) T1317S probably damaging Het
Apol7c T A 15: 77,409,923 (GRCm39) Q341L probably benign Het
Arhgef4 C T 1: 34,771,298 (GRCm39) R1202W probably benign Het
B4galnt2 C T 11: 95,766,923 (GRCm39) probably null Het
Cecr2 A T 6: 120,732,539 (GRCm39) E477V possibly damaging Het
Chmp7 A T 14: 69,956,010 (GRCm39) D419E probably benign Het
Cmip A C 8: 118,103,893 (GRCm39) K127T probably damaging Het
Csmd2 T C 4: 128,438,544 (GRCm39) V3041A probably benign Het
Cyp1b1 T A 17: 80,020,771 (GRCm39) I324F possibly damaging Het
Dapp1 T C 3: 137,638,928 (GRCm39) D225G probably benign Het
Ddx10 T C 9: 53,145,231 (GRCm39) T249A probably damaging Het
Dscaml1 T C 9: 45,361,878 (GRCm39) Y213H probably damaging Het
Eef1a2 T C 2: 180,797,150 (GRCm39) D17G probably damaging Het
Fbn1 T C 2: 125,212,069 (GRCm39) I848V probably benign Het
Fbxw18 A G 9: 109,519,585 (GRCm39) I307T probably benign Het
Fxr1 T A 3: 34,118,278 (GRCm39) D500E probably damaging Het
Gars1 G A 6: 55,046,363 (GRCm39) G492D probably damaging Het
Gria2 A T 3: 80,648,297 (GRCm39) D146E probably benign Het
Gstz1 A G 12: 87,205,894 (GRCm39) N37S probably benign Het
Hnrnph3 C A 10: 62,853,059 (GRCm39) G194V probably damaging Het
Il2rb T C 15: 78,370,600 (GRCm39) R172G possibly damaging Het
Itga11 T A 9: 62,662,578 (GRCm39) V517D possibly damaging Het
Kcnq4 A G 4: 120,561,683 (GRCm39) I462T probably benign Het
Klf6 T A 13: 5,911,639 (GRCm39) M1K probably null Het
Lrp8 G A 4: 107,718,470 (GRCm39) A817T probably benign Het
Map3k5 T A 10: 19,934,684 (GRCm39) Y509N probably damaging Het
Mdc1 C T 17: 36,163,671 (GRCm39) S1073F probably damaging Het
Mme A G 3: 63,256,133 (GRCm39) D531G possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mroh7 A T 4: 106,548,821 (GRCm39) V1014E possibly damaging Het
Msantd5l A T 11: 51,144,668 (GRCm39) F204L possibly damaging Het
Myo1d C T 11: 80,557,467 (GRCm39) C491Y probably damaging Het
Ncoa3 C A 2: 165,889,799 (GRCm39) D61E probably damaging Het
Nmrk1 A G 19: 18,622,491 (GRCm39) E190G probably benign Het
Nr4a2 G T 2: 57,002,225 (GRCm39) P13H probably damaging Het
Omt2a T C 9: 78,220,352 (GRCm39) I16V probably benign Het
Or4c116 A T 2: 88,942,576 (GRCm39) F93L probably damaging Het
Or51f2 T A 7: 102,526,640 (GRCm39) H104Q probably damaging Het
Or6n1 A G 1: 173,917,268 (GRCm39) I221V probably damaging Het
Or8k24 G A 2: 86,216,732 (GRCm39) T10I probably benign Het
Or8s5 G T 15: 98,238,659 (GRCm39) H70Q possibly damaging Het
Osbpl9 A T 4: 109,013,884 (GRCm39) I70N probably damaging Het
Pclo A T 5: 14,764,221 (GRCm39) L4231F unknown Het
Per1 C T 11: 68,991,444 (GRCm39) probably benign Het
Perm1 G T 4: 156,301,531 (GRCm39) C25F probably damaging Het
Phf3 A G 1: 30,844,687 (GRCm39) V1424A probably damaging Het
Plxnb1 T G 9: 108,941,096 (GRCm39) L1625R probably damaging Het
Ppid G A 3: 79,506,359 (GRCm39) V216I probably benign Het
Ppp4r3a C T 12: 101,008,175 (GRCm39) G754D probably damaging Het
Prex2 G T 1: 11,270,212 (GRCm39) W1299L probably damaging Het
Ptprn2 C A 12: 116,835,714 (GRCm39) Q350K probably benign Het
Ralyl G A 3: 14,104,850 (GRCm39) probably null Het
Rbm8a G A 3: 96,537,368 (GRCm39) probably benign Het
Relch T A 1: 105,620,004 (GRCm39) M353K probably benign Het
Ros1 A G 10: 51,977,990 (GRCm39) S1419P possibly damaging Het
Rps6ka5 C T 12: 100,564,144 (GRCm39) probably null Het
Rps6ka5 T A 12: 100,547,578 (GRCm39) I311F probably damaging Het
Rtel1 T C 2: 180,965,539 (GRCm39) probably null Het
Sacs A G 14: 61,441,722 (GRCm39) E1256G probably damaging Het
Sec23a A G 12: 59,029,372 (GRCm39) V467A probably damaging Het
Sec24d T A 3: 123,149,427 (GRCm39) N811K possibly damaging Het
Sf3b1 G A 1: 55,029,666 (GRCm39) T1112M probably damaging Het
Shisa5 T A 9: 108,885,128 (GRCm39) C133S probably null Het
Slc16a6 A G 11: 109,354,193 (GRCm39) S59P probably benign Het
Slc25a31 G A 3: 40,670,975 (GRCm39) A89T probably damaging Het
Slc6a1 G T 6: 114,284,713 (GRCm39) R257L possibly damaging Het
Sntb1 C T 15: 55,612,670 (GRCm39) V303M probably benign Het
Snx20 A G 8: 89,354,439 (GRCm39) V97A probably damaging Het
Vmn1r29 T A 6: 58,285,136 (GRCm39) N285K probably benign Het
Vmn2r98 T G 17: 19,290,007 (GRCm39) S514R probably damaging Het
Zfp28 A T 7: 6,392,793 (GRCm39) E156D probably damaging Het
Zfp39 A G 11: 58,793,633 (GRCm39) V35A probably benign Het
Zfp536 A C 7: 37,268,891 (GRCm39) I175S probably damaging Het
Zic5 A T 14: 122,696,969 (GRCm39) S549T unknown 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
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
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'- AGACAGATACCTTCTTTGTTGTGG -3'
(R):5'- TGGTACCACCTGTGTGTATTCC -3'

Sequencing Primer
(F):5'- GTAGTGGGTGCCCCTATTCAC -3'
(R):5'- GTGTGTATTCCAACGACTGCCAAAG -3'
Posted On 2015-10-21