Incidental Mutation 'R9379:Nup85'
ID 709879
Institutional Source Beutler Lab
Gene Symbol Nup85
Ensembl Gene ENSMUSG00000020739
Gene Name nucleoporin 85
Synonyms Pcnt1, frount
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9379 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 115455264-115474750 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115469424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 322 (I322T)
Ref Sequence ENSEMBL: ENSMUSP00000021085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021085] [ENSMUST00000140986] [ENSMUST00000144473]
AlphaFold Q8R480
Predicted Effect probably benign
Transcript: ENSMUST00000021085
AA Change: I322T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021085
Gene: ENSMUSG00000020739
AA Change: I322T

DomainStartEndE-ValueType
Pfam:Nucleopor_Nup85 53 606 1.2e-181 PFAM
low complexity region 635 649 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140986
AA Change: I64T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117333
Gene: ENSMUSG00000020739
AA Change: I64T

DomainStartEndE-ValueType
Pfam:Nucleopor_Nup85 21 280 5.9e-107 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144473
AA Change: I125T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116069
Gene: ENSMUSG00000020739
AA Change: I125T

DomainStartEndE-ValueType
Pfam:Nucleopor_Nup85 1 170 3e-56 PFAM
Pfam:Nucleopor_Nup85 168 274 1.1e-47 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A T 4: 39,451,201 (GRCm39) I136F possibly damaging Het
1700019D03Rik T A 1: 52,964,635 (GRCm39) D31V probably benign Het
Abca14 G T 7: 119,807,202 (GRCm39) E83* probably null Het
Abcc5 T C 16: 20,152,437 (GRCm39) T1370A probably damaging Het
Ankhd1 T C 18: 36,777,680 (GRCm39) V1621A probably benign Het
Ano8 T A 8: 71,936,178 (GRCm39) Q206L probably benign Het
Aox3 A T 1: 58,208,959 (GRCm39) I831F possibly damaging Het
Atp2a2 T C 5: 122,611,315 (GRCm39) I168V probably benign Het
Atxn2 G A 5: 121,885,509 (GRCm39) V239I probably damaging Het
B230219D22Rik C A 13: 55,847,283 (GRCm39) A132E probably damaging Het
Btbd17 C A 11: 114,682,749 (GRCm39) W321L possibly damaging Het
Cacna1i T A 15: 80,259,495 (GRCm39) V1255E probably damaging Het
Camsap1 T C 2: 25,846,318 (GRCm39) I132V Het
Chd7 A G 4: 8,752,210 (GRCm39) S236G unknown Het
Clasp1 CCTGCTGCTGCTGCTG CCTGCTGCTGCTGCTGCTG 1: 118,509,157 (GRCm39) probably benign Het
Clasp1 TGC TGCCGC 1: 118,509,168 (GRCm39) probably benign Het
Col4a1 T A 8: 11,249,838 (GRCm39) H1658L unknown Het
D630044L22Rik A G 17: 26,180,856 (GRCm39) H102R possibly damaging Het
Dact3 G A 7: 16,620,013 (GRCm39) V503I unknown Het
Dcn G T 10: 97,343,643 (GRCm39) R201L probably damaging Het
Dmxl1 T C 18: 50,024,567 (GRCm39) V1747A possibly damaging Het
Dnajc14 T A 10: 128,652,743 (GRCm39) probably null Het
Dspp A T 5: 104,322,760 (GRCm39) probably null Het
Ep300 T C 15: 81,532,760 (GRCm39) V1666A unknown Het
Flvcr2 A G 12: 85,850,000 (GRCm39) I429V probably benign Het
Gpr158 A G 2: 21,373,042 (GRCm39) probably benign Het
Grip1 G T 10: 119,780,961 (GRCm39) L203F probably damaging Het
Hoga1 T C 19: 42,051,697 (GRCm39) L250P probably damaging Het
Htr2b A G 1: 86,027,844 (GRCm39) S221P probably damaging Het
Ighv1-24 T C 12: 114,736,663 (GRCm39) Y79C possibly damaging Het
Katnip T C 7: 125,469,848 (GRCm39) L1439P probably damaging Het
Kcnq1 A G 7: 142,745,169 (GRCm39) T311A probably damaging Het
Kif21a C T 15: 90,854,030 (GRCm39) R779Q probably damaging Het
Lilra6 T C 7: 3,916,166 (GRCm39) E231G probably damaging Het
Lrrc8c T A 5: 105,756,356 (GRCm39) Y710* probably null Het
Mixl1 A G 1: 180,522,258 (GRCm39) S208P probably benign Het
Muc16 T A 9: 18,557,467 (GRCm39) Q2942L unknown Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nlrp4e C G 7: 23,020,755 (GRCm39) A414G probably benign Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Odad1 A G 7: 45,597,116 (GRCm39) T456A probably benign Het
Odad2 T C 18: 7,265,089 (GRCm39) D426G possibly damaging Het
Or10n7-ps1 A G 9: 39,598,114 (GRCm39) L42P probably damaging Het
Or7e169 T A 9: 19,757,212 (GRCm39) K234N possibly damaging Het
Or8b4 C T 9: 37,830,447 (GRCm39) L165F probably damaging Het
Or9k2b A G 10: 130,016,605 (GRCm39) M48T possibly damaging Het
Osbpl9 A T 4: 108,940,399 (GRCm39) H178Q probably damaging Het
Parp14 A G 16: 35,680,853 (GRCm39) V260A probably benign Het
Plxna2 C T 1: 194,492,474 (GRCm39) T1777I probably damaging Het
Ppp3cb T C 14: 20,581,874 (GRCm39) D47G probably benign Het
Pram1 T C 17: 33,860,441 (GRCm39) V336A probably damaging Het
Prl T A 13: 27,243,503 (GRCm39) I58N probably damaging Het
Qrich2 T C 11: 116,348,934 (GRCm39) D630G unknown Het
Ralgapa1 G C 12: 55,769,583 (GRCm39) P803A probably damaging Het
Rtcb A T 10: 85,779,071 (GRCm39) probably null Het
Ryr2 C T 13: 11,898,002 (GRCm39) C131Y probably damaging Het
Spata7 A G 12: 98,600,548 (GRCm39) I54V probably benign Het
St6galnac3 A G 3: 153,215,070 (GRCm39) V28A probably benign Het
Stra6l A T 4: 45,849,093 (GRCm39) T6S probably benign Het
Taf4b C T 18: 14,946,431 (GRCm39) T418M probably damaging Het
Taf6 A G 5: 138,181,952 (GRCm39) I92T possibly damaging Het
Tcaf2 C T 6: 42,619,517 (GRCm39) S170N probably benign Het
Tfrc A G 16: 32,443,819 (GRCm39) D541G probably damaging Het
Trav13n-3 T G 14: 53,574,853 (GRCm39) L32V probably damaging Het
Trpa1 T C 1: 14,966,739 (GRCm39) T542A possibly damaging Het
Ttc39b A T 4: 83,189,376 (GRCm39) S53T probably benign Het
Tut7 T C 13: 59,936,288 (GRCm39) Y1271C possibly damaging Het
Ubap2 A T 4: 41,216,630 (GRCm39) S268T possibly damaging Het
Usp40 A G 1: 87,881,889 (GRCm39) V998A probably benign Het
Usp44 T A 10: 93,688,635 (GRCm39) I562K possibly damaging Het
Vmn2r106 T C 17: 20,496,066 (GRCm39) T553A probably damaging Het
Vmn2r65 A G 7: 84,596,650 (GRCm39) V135A probably damaging Het
Wbp2nl T A 15: 82,198,311 (GRCm39) S283T possibly damaging Het
Wnk1 G A 6: 119,928,678 (GRCm39) T1092I probably damaging 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
R8517:Nup85 UTSW 11 115,455,390 (GRCm39) critical splice donor site probably null
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
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'- TGGAGAGAGCTGTTCAGTCAC -3'
(R):5'- TCAGTGCCAAGACAGAAGC -3'

Sequencing Primer
(F):5'- AGAGAGCTGTTCAGTCACTTGGC -3'
(R):5'- CCAAGACAGAAGCCGAGACTTG -3'
Posted On 2022-04-18