Incidental Mutation 'R3162:Nup155'
ID 500461
Institutional Source Beutler Lab
Gene Symbol Nup155
Ensembl Gene ENSMUSG00000022142
Gene Name nucleoporin 155
Synonyms D930027M19Rik
MMRRC Submission 040613-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3162 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 8138757-8190731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 8177867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 1083 (R1083S)
Ref Sequence ENSEMBL: ENSMUSP00000128819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163765] [ENSMUST00000230017]
AlphaFold Q99P88
Predicted Effect possibly damaging
Transcript: ENSMUST00000163765
AA Change: R1083S

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128819
Gene: ENSMUSG00000022142
AA Change: R1083S

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
Pfam:Nucleoporin_N 77 510 3.5e-105 PFAM
low complexity region 600 619 N/A INTRINSIC
Pfam:Nucleoporin_C 678 1221 3.6e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229039
Predicted Effect possibly damaging
Transcript: ENSMUST00000230017
AA Change: R1083S

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230337
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230925
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to E8.5. Mice homozygous for a gene trap allele exhibit atria fibrillation associated with shortened action potential duration. [provided by MGI curators]
Allele List at MGI

All alleles(18) : Gene trapped(18)

Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T C 5: 64,053,833 (GRCm39) probably benign Het
4933412E24Rik T A 15: 59,888,134 (GRCm39) E102V probably damaging Het
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Adgre4 T C 17: 56,109,218 (GRCm39) probably benign Het
Amer2 A G 14: 60,616,000 (GRCm39) D65G probably damaging Het
Atad2b C A 12: 4,989,689 (GRCm39) N133K possibly damaging Het
AW551984 C A 9: 39,504,325 (GRCm39) R547L probably damaging Het
B3galt6 A G 4: 156,076,464 (GRCm39) Y204H probably benign Het
Btnl2 T C 17: 34,577,039 (GRCm39) W65R probably damaging Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Caps2 C A 10: 112,018,391 (GRCm39) Y180* probably null Het
Ccdc181 T A 1: 164,107,865 (GRCm39) S183T probably damaging Het
Cdc14b A G 13: 64,394,422 (GRCm39) probably benign Het
Cep350 T C 1: 155,738,910 (GRCm39) H2311R probably benign Het
Cfap54 T A 10: 92,881,140 (GRCm39) K349N probably damaging Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Crbn T C 6: 106,767,827 (GRCm39) Q221R probably benign Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Ddb1 T C 19: 10,603,335 (GRCm39) L881P probably damaging Het
Decr1 T A 4: 15,930,972 (GRCm39) D120V probably damaging Het
Dennd1c C T 17: 57,373,562 (GRCm39) G637D possibly damaging Het
Dhrs3 A G 4: 144,646,016 (GRCm39) D108G possibly damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dnajc13 G T 9: 104,097,097 (GRCm39) N510K possibly damaging Het
Dusp6 T C 10: 99,099,944 (GRCm39) Y131H probably damaging Het
Eif2b2 A T 12: 85,266,435 (GRCm39) M34L probably benign Het
Epsti1 A T 14: 78,211,953 (GRCm39) probably benign Het
Errfi1 G A 4: 150,951,816 (GRCm39) E415K probably damaging Het
Ext1 T C 15: 53,208,000 (GRCm39) N254D possibly damaging Het
Gm7337 A C 5: 87,999,416 (GRCm39) noncoding transcript Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Hyal3 T A 9: 107,464,005 (GRCm39) C407S probably damaging Het
Insr T G 8: 3,211,416 (GRCm39) N1141T possibly damaging Het
Ipo9 T C 1: 135,337,214 (GRCm39) T174A probably benign Het
Iqgap1 G A 7: 80,402,086 (GRCm39) A393V probably benign Het
Irak2 G T 6: 113,649,721 (GRCm39) A119S probably benign Het
Itgb2l A G 16: 96,238,589 (GRCm39) L70P probably damaging Het
Itsn1 C A 16: 91,649,932 (GRCm39) S202* probably null Het
Ivd T C 2: 118,692,650 (GRCm39) probably null Het
Leprot C T 4: 101,515,090 (GRCm39) T89I probably damaging Het
Lratd2 A T 15: 60,695,296 (GRCm39) V150E probably damaging Het
Mill2 A C 7: 18,590,099 (GRCm39) E127A probably benign Het
Msh6 T C 17: 88,292,909 (GRCm39) Y555H probably damaging Het
Myo18b A C 5: 112,840,594 (GRCm39) S2400A probably damaging Het
Naa25 A G 5: 121,573,135 (GRCm39) probably null Het
Nop2 A G 6: 125,111,555 (GRCm39) N96S probably benign Het
Nusap1 A T 2: 119,460,885 (GRCm39) Q126L possibly damaging Het
Or11g24 T A 14: 50,662,488 (GRCm39) C171S probably damaging Het
Or13c7b T A 4: 43,820,544 (GRCm39) K272N probably benign Het
Or2z2 T C 11: 58,346,053 (GRCm39) T241A probably damaging Het
Or4c52 T G 2: 89,845,365 (GRCm39) Y30* probably null Het
Or5al1 T C 2: 85,990,439 (GRCm39) I92V probably benign Het
Or6x1 G T 9: 40,098,901 (GRCm39) Q163H probably benign Het
Or7a35 C A 10: 78,853,438 (GRCm39) T94N probably benign Het
Pde5a T A 3: 122,575,277 (GRCm39) L356* probably null Het
Pdik1l A G 4: 134,011,561 (GRCm39) L94S probably damaging Het
Pkdrej T A 15: 85,700,818 (GRCm39) D1706V probably damaging Het
Pkhd1l1 A G 15: 44,368,924 (GRCm39) I856M probably damaging Het
Prkcz A T 4: 155,374,981 (GRCm39) D114E probably benign Het
Prss59 A G 6: 40,903,003 (GRCm39) M123T probably benign Het
Psap T C 10: 60,113,575 (GRCm39) L4P possibly damaging Het
Ptprk T C 10: 28,468,822 (GRCm39) V1402A probably benign Het
Rai14 T C 15: 10,633,250 (GRCm39) T47A possibly damaging Het
Ralgapa1 A T 12: 55,756,371 (GRCm39) N1075K probably damaging Het
Rlf A G 4: 121,006,044 (GRCm39) S979P probably damaging Het
Rps2 G T 17: 24,939,952 (GRCm39) A129S probably benign Het
Serinc2 A G 4: 130,154,528 (GRCm39) S175P probably benign Het
Skic2 C T 17: 35,066,789 (GRCm39) W88* probably null Het
Socs5 A T 17: 87,442,146 (GRCm39) Q362L probably damaging Het
Srbd1 A T 17: 86,437,643 (GRCm39) D233E probably benign Het
Srgap3 A G 6: 112,706,619 (GRCm39) V826A probably benign Het
Tacr2 A G 10: 62,101,024 (GRCm39) D378G probably benign Het
Taok2 A G 7: 126,474,347 (GRCm39) I294T possibly damaging Het
Tert A G 13: 73,775,528 (GRCm39) E93G possibly damaging Het
Tns2 A G 15: 102,021,771 (GRCm39) E1118G possibly damaging Het
Topaz1 T C 9: 122,578,446 (GRCm39) I452T probably benign Het
Trak1 C T 9: 121,280,800 (GRCm39) probably benign Het
Ttc22 A T 4: 106,480,276 (GRCm39) I177F probably damaging Het
Tuba8 A G 6: 121,199,697 (GRCm39) D127G possibly damaging Het
Tulp4 A G 17: 6,248,983 (GRCm39) M1V probably null Het
Urb1 A G 16: 90,594,791 (GRCm39) L247P probably damaging Het
Usp32 A G 11: 84,916,362 (GRCm39) W861R probably damaging Het
Vmn1r48 G A 6: 90,013,360 (GRCm39) T155I probably benign Het
Vmn2r117 A G 17: 23,679,352 (GRCm39) L624P probably damaging Het
Vmn2r86 T C 10: 130,291,673 (GRCm39) R31G probably damaging Het
Vstm5 T G 9: 15,168,594 (GRCm39) S53A probably benign Het
Wnt5a T C 14: 28,244,445 (GRCm39) Y231H probably benign Het
Yeats2 T C 16: 20,012,395 (GRCm39) V531A probably damaging Het
Zw10 T C 9: 48,988,860 (GRCm39) Y709H probably damaging Het
Other mutations in Nup155
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Nup155 APN 15 8,150,939 (GRCm39) splice site probably benign
IGL00426:Nup155 APN 15 8,186,278 (GRCm39) makesense probably null
IGL00765:Nup155 APN 15 8,182,712 (GRCm39) missense probably benign 0.16
IGL00936:Nup155 APN 15 8,157,889 (GRCm39) splice site probably benign
IGL01124:Nup155 APN 15 8,183,163 (GRCm39) missense probably damaging 0.97
IGL01739:Nup155 APN 15 8,165,272 (GRCm39) missense probably benign 0.01
IGL02013:Nup155 APN 15 8,143,132 (GRCm39) missense possibly damaging 0.61
IGL02066:Nup155 APN 15 8,187,250 (GRCm39) unclassified probably benign
IGL02231:Nup155 APN 15 8,173,548 (GRCm39) missense probably damaging 1.00
IGL02246:Nup155 APN 15 8,172,486 (GRCm39) missense probably benign
IGL02289:Nup155 APN 15 8,160,977 (GRCm39) missense probably damaging 1.00
IGL02608:Nup155 APN 15 8,138,955 (GRCm39) missense probably benign
IGL02749:Nup155 APN 15 8,163,560 (GRCm39) missense probably damaging 1.00
IGL02813:Nup155 APN 15 8,159,605 (GRCm39) splice site probably benign
IGL03102:Nup155 APN 15 8,176,768 (GRCm39) missense probably benign 0.00
H8930:Nup155 UTSW 15 8,187,142 (GRCm39) missense possibly damaging 0.50
IGL02835:Nup155 UTSW 15 8,172,614 (GRCm39) missense probably damaging 1.00
R0314:Nup155 UTSW 15 8,176,736 (GRCm39) missense probably benign 0.00
R0365:Nup155 UTSW 15 8,161,027 (GRCm39) missense probably damaging 1.00
R0586:Nup155 UTSW 15 8,159,716 (GRCm39) missense probably benign 0.39
R0764:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R0839:Nup155 UTSW 15 8,175,071 (GRCm39) missense possibly damaging 0.48
R0844:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1066:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1067:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1085:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1137:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1162:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1166:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1202:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1203:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1219:Nup155 UTSW 15 8,146,822 (GRCm39) missense possibly damaging 0.80
R1385:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1421:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1448:Nup155 UTSW 15 8,141,890 (GRCm39) missense probably benign 0.44
R1611:Nup155 UTSW 15 8,159,644 (GRCm39) missense probably damaging 1.00
R1836:Nup155 UTSW 15 8,184,464 (GRCm39) missense possibly damaging 0.79
R1863:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1866:Nup155 UTSW 15 8,145,010 (GRCm39) missense probably damaging 1.00
R1894:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1976:Nup155 UTSW 15 8,165,311 (GRCm39) missense probably benign 0.01
R2024:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R2026:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R2027:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R2077:Nup155 UTSW 15 8,172,510 (GRCm39) missense probably damaging 1.00
R2111:Nup155 UTSW 15 8,150,951 (GRCm39) missense probably benign 0.45
R2921:Nup155 UTSW 15 8,183,125 (GRCm39) missense probably damaging 1.00
R2936:Nup155 UTSW 15 8,172,533 (GRCm39) missense possibly damaging 0.89
R3108:Nup155 UTSW 15 8,146,790 (GRCm39) missense probably null 1.00
R3161:Nup155 UTSW 15 8,177,867 (GRCm39) missense possibly damaging 0.56
R3162:Nup155 UTSW 15 8,177,867 (GRCm39) missense possibly damaging 0.56
R3522:Nup155 UTSW 15 8,186,162 (GRCm39) splice site probably benign
R4423:Nup155 UTSW 15 8,150,948 (GRCm39) missense probably damaging 0.99
R4451:Nup155 UTSW 15 8,180,366 (GRCm39) missense probably benign 0.02
R4498:Nup155 UTSW 15 8,183,157 (GRCm39) missense possibly damaging 0.88
R4780:Nup155 UTSW 15 8,187,187 (GRCm39) missense probably benign 0.00
R4822:Nup155 UTSW 15 8,158,010 (GRCm39) missense possibly damaging 0.49
R5013:Nup155 UTSW 15 8,153,722 (GRCm39) missense probably benign 0.00
R5064:Nup155 UTSW 15 8,165,354 (GRCm39) missense probably damaging 1.00
R5172:Nup155 UTSW 15 8,139,026 (GRCm39) missense probably benign 0.06
R5406:Nup155 UTSW 15 8,183,122 (GRCm39) critical splice acceptor site probably null
R5551:Nup155 UTSW 15 8,177,817 (GRCm39) missense probably benign 0.09
R5588:Nup155 UTSW 15 8,148,737 (GRCm39) critical splice donor site probably null
R5977:Nup155 UTSW 15 8,159,721 (GRCm39) critical splice donor site probably null
R6035:Nup155 UTSW 15 8,173,577 (GRCm39) missense probably benign
R6035:Nup155 UTSW 15 8,173,577 (GRCm39) missense probably benign
R6036:Nup155 UTSW 15 8,157,895 (GRCm39) missense probably benign 0.16
R6036:Nup155 UTSW 15 8,157,895 (GRCm39) missense probably benign 0.16
R6085:Nup155 UTSW 15 8,177,842 (GRCm39) missense probably damaging 0.98
R6188:Nup155 UTSW 15 8,139,059 (GRCm39) missense probably damaging 1.00
R6232:Nup155 UTSW 15 8,138,963 (GRCm39) missense probably benign 0.02
R6257:Nup155 UTSW 15 8,180,282 (GRCm39) nonsense probably null
R6262:Nup155 UTSW 15 8,186,225 (GRCm39) missense probably benign 0.03
R6267:Nup155 UTSW 15 8,182,639 (GRCm39) missense probably damaging 1.00
R6296:Nup155 UTSW 15 8,182,639 (GRCm39) missense probably damaging 1.00
R6299:Nup155 UTSW 15 8,157,922 (GRCm39) missense possibly damaging 0.88
R6303:Nup155 UTSW 15 8,147,526 (GRCm39) missense probably damaging 1.00
R6304:Nup155 UTSW 15 8,147,526 (GRCm39) missense probably damaging 1.00
R6763:Nup155 UTSW 15 8,165,379 (GRCm39) nonsense probably null
R6958:Nup155 UTSW 15 8,176,638 (GRCm39) missense probably damaging 1.00
R7088:Nup155 UTSW 15 8,186,177 (GRCm39) missense probably benign 0.11
R7313:Nup155 UTSW 15 8,184,406 (GRCm39) missense probably damaging 0.96
R7451:Nup155 UTSW 15 8,175,091 (GRCm39) nonsense probably null
R7560:Nup155 UTSW 15 8,184,531 (GRCm39) missense probably benign 0.39
R7633:Nup155 UTSW 15 8,138,937 (GRCm39) missense probably damaging 0.99
R7670:Nup155 UTSW 15 8,183,180 (GRCm39) missense probably damaging 0.99
R7726:Nup155 UTSW 15 8,151,623 (GRCm39) missense probably damaging 1.00
R7752:Nup155 UTSW 15 8,145,926 (GRCm39) missense possibly damaging 0.53
R7889:Nup155 UTSW 15 8,150,991 (GRCm39) missense probably damaging 0.98
R7899:Nup155 UTSW 15 8,148,663 (GRCm39) missense probably damaging 1.00
R7901:Nup155 UTSW 15 8,145,926 (GRCm39) missense possibly damaging 0.53
R8429:Nup155 UTSW 15 8,141,904 (GRCm39) missense probably damaging 0.96
R8467:Nup155 UTSW 15 8,151,015 (GRCm39) missense probably benign 0.00
R8507:Nup155 UTSW 15 8,177,044 (GRCm39) nonsense probably null
R8860:Nup155 UTSW 15 8,159,640 (GRCm39) missense possibly damaging 0.96
R8994:Nup155 UTSW 15 8,172,645 (GRCm39) critical splice donor site probably null
R9046:Nup155 UTSW 15 8,157,919 (GRCm39) frame shift probably null
R9086:Nup155 UTSW 15 8,177,830 (GRCm39) missense possibly damaging 0.84
R9500:Nup155 UTSW 15 8,141,800 (GRCm39) missense probably damaging 1.00
RF003:Nup155 UTSW 15 8,148,660 (GRCm39) critical splice acceptor site probably benign
RF048:Nup155 UTSW 15 8,148,660 (GRCm39) critical splice acceptor site probably benign
Z1177:Nup155 UTSW 15 8,149,973 (GRCm39) missense probably benign 0.23
Predicted Primers
Posted On 2017-12-01