Incidental Mutation 'R8517:Nup85'
ID 656221
Institutional Source Beutler Lab
Gene Symbol Nup85
Ensembl Gene ENSMUSG00000020739
Gene Name nucleoporin 85
Synonyms Pcnt1, frount
MMRRC Submission 067849-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8517 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 115455264-115474750 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 115455390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021085]
AlphaFold Q8R480
Predicted Effect probably null
Transcript: ENSMUST00000021085
SMART Domains Protein: ENSMUSP00000021085
Gene: ENSMUSG00000020739

DomainStartEndE-ValueType
Pfam:Nucleopor_Nup85 53 606 1.2e-181 PFAM
low complexity region 635 649 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,861,206 (GRCm39) D131E probably damaging Het
Abca17 C A 17: 24,536,207 (GRCm39) V487F probably benign Het
Anapc5 T C 5: 122,959,093 (GRCm39) S41G probably benign Het
Aoc1 C T 6: 48,883,644 (GRCm39) Q507* probably null Het
Ccdc171 G A 4: 83,661,298 (GRCm39) R1136H probably damaging Het
Clspn A G 4: 126,460,012 (GRCm39) D413G probably benign Het
Copz2 A G 11: 96,744,309 (GRCm39) K74E possibly damaging Het
Cpsf4l C A 11: 113,599,651 (GRCm39) A45S probably benign Het
Cr2 T C 1: 194,838,207 (GRCm39) I710V probably benign Het
Csmd2 G A 4: 128,446,479 (GRCm39) R3348Q Het
Dchs2 A G 3: 83,178,419 (GRCm39) I1157M probably damaging Het
Dcst1 A G 3: 89,272,455 (GRCm39) F3L probably benign Het
Dennd5b A C 6: 148,930,619 (GRCm39) C743G probably damaging Het
Dnah6 T C 6: 73,155,440 (GRCm39) E725G probably benign Het
Dnajc3 G T 14: 119,190,589 (GRCm39) G51* probably null Het
Dyrk2 T C 10: 118,696,926 (GRCm39) T111A probably benign Het
F5 T A 1: 164,003,822 (GRCm39) F206I probably damaging Het
Fam217b T A 2: 178,062,565 (GRCm39) S176R probably benign Het
Farsb A T 1: 78,439,933 (GRCm39) L313* probably null Het
Fbh1 A G 2: 11,782,241 (GRCm39) probably null Het
Fgd4 G A 16: 16,240,509 (GRCm39) T740I probably benign Het
Gprc6a G T 10: 51,507,337 (GRCm39) A64D probably benign Het
Gtf3c1 A T 7: 125,253,723 (GRCm39) V1365E probably damaging Het
Hdc C G 2: 126,439,890 (GRCm39) probably null Het
Igkv5-39 T G 6: 69,877,553 (GRCm39) I68L possibly damaging Het
Kcnh2 A T 5: 24,531,636 (GRCm39) V425D probably damaging Het
Kcnj12 T C 11: 60,960,199 (GRCm39) S166P probably benign Het
Krtap16-1 A T 11: 99,876,524 (GRCm39) C293* probably null Het
Map7 T C 10: 20,137,581 (GRCm39) V251A probably damaging Het
Myo7b G T 18: 32,100,244 (GRCm39) L1597M possibly damaging Het
Nmu T C 5: 76,493,326 (GRCm39) E82G possibly damaging Het
Nwd2 A G 5: 63,948,925 (GRCm39) N166D probably damaging Het
Or52n2b T A 7: 104,565,681 (GRCm39) H274L possibly damaging Het
Pbrm1 C A 14: 30,789,739 (GRCm39) D784E probably benign Het
Pcdhgb1 T A 18: 37,815,117 (GRCm39) M536K possibly damaging Het
Pml T A 9: 58,127,651 (GRCm39) Q698L possibly damaging Het
Pon1 T C 6: 5,171,769 (GRCm39) Y294C probably benign Het
Rasal2 T C 1: 156,973,849 (GRCm39) probably null Het
Rims1 T A 1: 22,522,246 (GRCm39) H484L probably damaging Het
Rpia C A 6: 70,743,630 (GRCm39) V274L possibly damaging Het
Sart1 A G 19: 5,433,225 (GRCm39) L424P probably damaging Het
Scnm1 A C 3: 95,040,134 (GRCm39) probably null Het
Slfn8 T A 11: 82,894,968 (GRCm39) M613L possibly damaging Het
Snph A G 2: 151,435,641 (GRCm39) V429A probably damaging Het
Tarbp1 T A 8: 127,170,934 (GRCm39) D1022V probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Ttc8 A G 12: 98,909,594 (GRCm39) N100D probably benign Het
Zbtb49 T A 5: 38,357,997 (GRCm39) H752L probably benign Het
Zfp1005 A T 2: 150,110,043 (GRCm39) E244D probably benign Het
Zfp263 T C 16: 3,564,760 (GRCm39) probably null Het
Zfp46 A G 4: 136,018,458 (GRCm39) T431A probably benign Het
Other mutations in Nup85
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00550:Nup85 APN 11 115,472,582 (GRCm39) missense probably damaging 1.00
IGL01538:Nup85 APN 11 115,460,540 (GRCm39) missense possibly damaging 0.81
IGL01775:Nup85 APN 11 115,471,593 (GRCm39) missense probably damaging 1.00
IGL02170:Nup85 APN 11 115,468,757 (GRCm39) missense probably damaging 0.97
IGL02456:Nup85 APN 11 115,472,691 (GRCm39) unclassified probably benign
IGL02888:Nup85 APN 11 115,469,626 (GRCm39) missense possibly damaging 0.89
IGL03210:Nup85 APN 11 115,457,462 (GRCm39) missense probably benign 0.11
PIT4403001:Nup85 UTSW 11 115,472,646 (GRCm39) missense probably damaging 0.98
R0195:Nup85 UTSW 11 115,455,357 (GRCm39) start codon destroyed probably null 1.00
R0394:Nup85 UTSW 11 115,455,357 (GRCm39) start codon destroyed probably null 1.00
R0639:Nup85 UTSW 11 115,455,357 (GRCm39) start codon destroyed probably null 1.00
R0883:Nup85 UTSW 11 115,459,196 (GRCm39) nonsense probably null
R1567:Nup85 UTSW 11 115,459,224 (GRCm39) missense possibly damaging 0.83
R1774:Nup85 UTSW 11 115,473,771 (GRCm39) missense probably benign 0.01
R1846:Nup85 UTSW 11 115,459,239 (GRCm39) missense probably benign 0.11
R1851:Nup85 UTSW 11 115,472,643 (GRCm39) missense probably damaging 1.00
R2084:Nup85 UTSW 11 115,459,517 (GRCm39) missense possibly damaging 0.71
R4766:Nup85 UTSW 11 115,468,751 (GRCm39) splice site probably null
R5748:Nup85 UTSW 11 115,471,338 (GRCm39) missense probably damaging 1.00
R6362:Nup85 UTSW 11 115,474,560 (GRCm39) missense probably damaging 0.98
R6906:Nup85 UTSW 11 115,471,769 (GRCm39) missense probably damaging 1.00
R6951:Nup85 UTSW 11 115,473,781 (GRCm39) missense possibly damaging 0.95
R7835:Nup85 UTSW 11 115,460,897 (GRCm39) missense probably benign 0.35
R8125:Nup85 UTSW 11 115,469,063 (GRCm39) frame shift probably null
R8151:Nup85 UTSW 11 115,468,759 (GRCm39) missense probably benign 0.06
R8415:Nup85 UTSW 11 115,457,468 (GRCm39) missense probably benign
R9090:Nup85 UTSW 11 115,468,787 (GRCm39) missense possibly damaging 0.94
R9254:Nup85 UTSW 11 115,469,424 (GRCm39) missense probably benign
R9271:Nup85 UTSW 11 115,468,787 (GRCm39) missense possibly damaging 0.94
R9379:Nup85 UTSW 11 115,469,424 (GRCm39) missense probably benign
R9670:Nup85 UTSW 11 115,457,471 (GRCm39) missense probably benign 0.41
R9709:Nup85 UTSW 11 115,457,463 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TGGAACATGTGTGAAAGGCTTC -3'
(R):5'- ACCTAGGGACCACTATTGCC -3'

Sequencing Primer
(F):5'- CTAAGACGAAGGGATCTGTTGC -3'
(R):5'- GGACCACTATTGCCATAACCTAGTTC -3'
Posted On 2020-10-20