Incidental Mutation 'R4780:Nup155'
ID 366447
Institutional Source Beutler Lab
Gene Symbol Nup155
Ensembl Gene ENSMUSG00000022142
Gene Name nucleoporin 155
Synonyms D930027M19Rik
MMRRC Submission 041993-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4780 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 8138757-8190731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 8187187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 1372 (A1372E)
Ref Sequence ENSEMBL: ENSMUSP00000128819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163765] [ENSMUST00000230017]
AlphaFold Q99P88
Predicted Effect probably benign
Transcript: ENSMUST00000163765
AA Change: A1372E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128819
Gene: ENSMUSG00000022142
AA Change: A1372E

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 probably benign
Transcript: ENSMUST00000230017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230925
Meta Mutation Damage Score 0.0727 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (107/109)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,771,131 (GRCm39) N107D probably benign Het
4833413E03Rik A C 17: 31,777,738 (GRCm39) noncoding transcript Het
4931429L15Rik G T 9: 46,220,144 (GRCm39) H129Q possibly damaging Het
A730018C14Rik A G 12: 112,382,069 (GRCm39) noncoding transcript Het
Abcc6 T A 7: 45,646,115 (GRCm39) K791N probably benign Het
Adcy4 T G 14: 56,012,493 (GRCm39) Q550P probably benign Het
Add3 C A 19: 53,223,223 (GRCm39) A325E possibly damaging Het
Agbl4 T A 4: 111,514,528 (GRCm39) I513N possibly damaging Het
Agfg1 C A 1: 82,864,108 (GRCm39) T392K probably damaging Het
Akna C A 4: 63,297,491 (GRCm39) M854I probably benign Het
Ankrd44 T C 1: 54,802,916 (GRCm39) N194S probably benign Het
Anks1b A G 10: 89,709,594 (GRCm39) K21E probably damaging Het
Ap1s3 A G 1: 79,586,889 (GRCm39) F154L probably benign Het
Apbb2 T A 5: 66,520,160 (GRCm39) N477I probably damaging Het
Apobec3 T C 15: 79,783,225 (GRCm39) C101R possibly damaging Het
Arnt G T 3: 95,395,696 (GRCm39) V410F probably damaging Het
Arsg G A 11: 109,424,839 (GRCm39) R270H possibly damaging Het
B3gnt7 T A 1: 86,232,992 (GRCm39) D79E probably damaging Het
Cd44 G T 2: 102,691,910 (GRCm39) A126D probably damaging Het
Cd69 A G 6: 129,248,318 (GRCm39) I56T probably damaging Het
Cep120 G A 18: 53,857,608 (GRCm39) P286S probably benign Het
Ces2a T C 8: 105,463,840 (GRCm39) F184S probably damaging Het
Chrng A G 1: 87,135,246 (GRCm39) N185S probably damaging Het
Cldn6 A T 17: 23,900,221 (GRCm39) M62L probably benign Het
Cntn6 T A 6: 104,822,745 (GRCm39) N765K probably damaging Het
Cspg4b A G 13: 113,454,392 (GRCm39) Y146C probably damaging Het
Ctnnal1 T C 4: 56,847,857 (GRCm39) D94G probably damaging Het
Cyp2c69 T C 19: 39,866,038 (GRCm39) N185S probably benign Het
Depdc1a A G 3: 159,232,343 (GRCm39) N698S probably benign Het
Dnah2 A T 11: 69,364,697 (GRCm39) I1986N probably damaging Het
Dnah7b A G 1: 46,392,174 (GRCm39) E3845G probably benign Het
Dpysl3 C T 18: 43,487,867 (GRCm39) V159I probably benign Het
Dync1h1 T C 12: 110,627,630 (GRCm39) Y4047H probably damaging Het
E130308A19Rik C T 4: 59,691,057 (GRCm39) P297L probably benign Het
E2f5 A G 3: 14,652,379 (GRCm39) T72A probably benign Het
Ephb6 G T 6: 41,593,073 (GRCm39) R437L probably damaging Het
Erbb4 T C 1: 68,337,473 (GRCm39) H615R probably damaging Het
Erbin T C 13: 104,020,714 (GRCm39) T82A probably damaging Het
Eri2 T C 7: 119,384,903 (GRCm39) N533D probably benign Het
Fkbp9 A G 6: 56,827,701 (GRCm39) N174S probably damaging Het
Fsbp C T 4: 11,583,709 (GRCm39) T136I possibly damaging Het
Fubp3 C A 2: 31,473,223 (GRCm39) D47E probably damaging Het
Gm21850 G A 2: 153,898,419 (GRCm39) noncoding transcript Het
Gm5141 T A 13: 62,922,764 (GRCm39) Y135F unknown Het
Gm7353 T A 7: 3,160,725 (GRCm39) noncoding transcript Het
Gm9925 T C 18: 74,198,344 (GRCm39) probably benign Het
Greb1l T C 18: 10,541,792 (GRCm39) S1180P probably benign Het
H2ac11 G A 13: 22,227,079 (GRCm39) Q7* probably null Het
Ift70a2 A C 2: 75,807,920 (GRCm39) C197W probably benign Het
Kiz A G 2: 146,731,166 (GRCm39) T192A possibly damaging Het
Klhl24 T A 16: 19,925,708 (GRCm39) C79S probably damaging Het
Map3k11 A G 19: 5,740,966 (GRCm39) H231R probably damaging Het
Mbd4 C A 6: 115,826,345 (GRCm39) R194S probably benign Het
Mettl21e A C 1: 44,250,303 (GRCm39) S34R probably benign Het
Mrps5 T C 2: 127,440,161 (GRCm39) V245A probably benign Het
Mtrf1 T C 14: 79,639,128 (GRCm39) Y87H probably benign Het
Myh15 T C 16: 48,940,420 (GRCm39) I790T probably benign Het
Necab1 T G 4: 14,989,248 (GRCm39) I176L probably benign Het
Nfkb2 T A 19: 46,298,361 (GRCm39) L555Q probably damaging Het
Nhlrc3 T A 3: 53,365,988 (GRCm39) E168D probably benign Het
Nlrp5 T A 7: 23,135,203 (GRCm39) C949S probably damaging Het
Nynrin G T 14: 56,100,720 (GRCm39) R170L probably damaging Het
Ogfrl1 T A 1: 23,409,402 (GRCm39) N275Y probably damaging Het
Olr1 A T 6: 129,465,839 (GRCm39) S56T probably damaging Het
Or4k52 A G 2: 111,611,190 (GRCm39) D175G probably damaging Het
Or5aq1 C T 2: 86,966,221 (GRCm39) S148N probably damaging Het
Or5b121 A G 19: 13,507,319 (GRCm39) N138S probably benign Het
Or8b48 A G 9: 38,493,265 (GRCm39) T231A possibly damaging Het
Ovol2 A T 2: 144,173,203 (GRCm39) probably benign Het
Pcdha6 A T 18: 37,102,906 (GRCm39) I700F probably damaging Het
Prkcz C T 4: 155,374,159 (GRCm39) V86M probably damaging Het
Ptpn13 A G 5: 103,734,639 (GRCm39) T2124A probably benign Het
Ranbp3 G T 17: 56,980,346 (GRCm39) probably benign Het
Rapgef2 A G 3: 79,077,076 (GRCm39) probably benign Het
Rbl1 A G 2: 157,016,724 (GRCm39) V625A probably benign Het
Rbm38 G T 2: 172,863,944 (GRCm39) G38C probably damaging Het
Reg1 T G 6: 78,403,333 (GRCm39) F7C possibly damaging Het
Retnlg A T 16: 48,694,697 (GRCm39) Q115L possibly damaging Het
Rhobtb1 G A 10: 69,105,983 (GRCm39) V183I probably benign Het
Rims1 T C 1: 22,361,329 (GRCm39) Q1186R probably damaging Het
Ryr1 A G 7: 28,794,522 (GRCm39) F1246L possibly damaging Het
Samm50 A G 15: 84,094,811 (GRCm39) N401S possibly damaging Het
Scn3a T A 2: 65,336,537 (GRCm39) I690F probably damaging Het
Sdk1 A G 5: 141,944,993 (GRCm39) D304G probably damaging Het
Skint6 T C 4: 113,093,594 (GRCm39) Y183C probably damaging Het
Slamf1 A T 1: 171,604,829 (GRCm39) T200S probably benign Het
Slc34a2 C T 5: 53,226,793 (GRCm39) R639C probably damaging Het
Smap1 A T 1: 23,892,517 (GRCm39) M149K probably benign Het
Sorcs1 T C 19: 50,132,419 (GRCm39) probably benign Het
Sp140 T A 1: 85,538,549 (GRCm39) D95E possibly damaging Het
Spata13 G A 14: 60,991,356 (GRCm39) W366* probably null Het
Spata31e4 C A 13: 50,855,116 (GRCm39) S251R probably damaging Het
Strip1 G A 3: 107,534,314 (GRCm39) T136I probably benign Het
Tacr1 A T 6: 82,534,053 (GRCm39) T360S probably benign Het
Tbc1d14 T A 5: 36,728,600 (GRCm39) probably benign Het
Tcaf2 T C 6: 42,604,996 (GRCm39) Y596C probably damaging Het
Tspoap1 C T 11: 87,669,269 (GRCm39) T1454I possibly damaging Het
Ttn A T 2: 76,744,927 (GRCm39) M5374K probably benign Het
Uts2r G A 11: 121,051,705 (GRCm39) V190I possibly damaging Het
Vmn1r181 A G 7: 23,684,008 (GRCm39) T158A possibly damaging Het
Wdr35 A T 12: 9,068,150 (GRCm39) T778S probably benign Het
Xrn1 A T 9: 95,856,797 (GRCm39) probably benign Het
Zfp35 A T 18: 24,136,326 (GRCm39) K223N probably damaging Het
Zfp764 T C 7: 127,003,943 (GRCm39) Q396R probably benign Het
Zfyve1 T C 12: 83,605,421 (GRCm39) Y11C 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
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
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 PCR Primer
(F):5'- AAGGAAATGGGTTTCAGTATAGCTG -3'
(R):5'- TGAGCTACATATCTGGGCCC -3'

Sequencing Primer
(F):5'- TAGCAGCTCAGGGCCATTCATAG -3'
(R):5'- GTAATCAATGGAGCCGTTC -3'
Posted On 2015-12-21