Incidental Mutation 'R6035:Nup155'
ID 479180
Institutional Source Beutler Lab
Gene Symbol Nup155
Ensembl Gene ENSMUSG00000022142
Gene Name nucleoporin 155
Synonyms D930027M19Rik
MMRRC Submission 044207-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6035 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 8138757-8190731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8173577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 891 (T891A)
Ref Sequence ENSEMBL: ENSMUSP00000155093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163765] [ENSMUST00000230017]
AlphaFold Q99P88
Predicted Effect probably benign
Transcript: ENSMUST00000163765
AA Change: T891A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128819
Gene: ENSMUSG00000022142
AA Change: T891A

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 probably benign
Transcript: ENSMUST00000230017
AA Change: T891A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230337
Meta Mutation Damage Score 0.0647 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 98.9%
  • 10x: 91.8%
  • 20x: 70.9%
Validation Efficiency
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G T 6: 121,615,353 (GRCm39) G76W probably damaging Het
Abca17 A T 17: 24,500,219 (GRCm39) F1324Y possibly damaging Het
Abca8b A T 11: 109,862,686 (GRCm39) probably null Het
Abcc12 A G 8: 87,244,033 (GRCm39) M1040T probably damaging Het
Abtb1 A G 6: 88,818,788 (GRCm39) F7L probably damaging Het
Adcy9 T C 16: 4,122,377 (GRCm39) T558A probably benign Het
Adgrb1 A T 15: 74,412,292 (GRCm39) T424S possibly damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ankrd31 C A 13: 96,968,721 (GRCm39) P786Q probably benign Het
Arhgap39 G T 15: 76,621,424 (GRCm39) Y392* probably null Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Carmil2 G T 8: 106,419,195 (GRCm39) W749L probably benign Het
Ccar1 A G 10: 62,587,564 (GRCm39) Y867H unknown Het
Cdh13 A G 8: 119,232,437 (GRCm39) D47G probably benign Het
Chst9 T A 18: 15,585,910 (GRCm39) T218S probably benign Het
Clec2i G A 6: 128,870,587 (GRCm39) V67I probably benign Het
Cox7a2 T A 9: 79,667,028 (GRCm39) probably benign Het
Cplx3 A G 9: 57,519,030 (GRCm39) probably null Het
Cpz A G 5: 35,674,929 (GRCm39) C107R probably damaging Het
Dapk1 T A 13: 60,909,013 (GRCm39) C1209S possibly damaging Het
Ddx41 T C 13: 55,681,781 (GRCm39) M307V probably benign Het
Defa24 A G 8: 22,224,565 (GRCm39) I5V probably benign Het
Dgcr8 A T 16: 18,076,178 (GRCm39) N2K probably damaging Het
Ebf2 A G 14: 67,476,423 (GRCm39) D131G probably damaging Het
Fam149b C T 14: 20,427,985 (GRCm39) R424C probably damaging Het
Fbln2 G A 6: 91,240,335 (GRCm39) V714M probably damaging Het
Fgf5 T C 5: 98,423,385 (GRCm39) Y257H probably damaging Het
Fmo3 A C 1: 162,791,605 (GRCm39) V224G probably damaging Het
Gigyf2 T C 1: 87,338,450 (GRCm39) I394T possibly damaging Het
Glmn T A 5: 107,741,746 (GRCm39) probably null Het
Greb1l T C 18: 10,501,025 (GRCm39) I385T possibly damaging Het
Grhl1 C A 12: 24,658,449 (GRCm39) Q365K probably benign Het
Gsdme G A 6: 50,206,306 (GRCm39) T179M probably damaging Het
Gtf2a1l A G 17: 89,018,962 (GRCm39) T349A probably benign Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Il5ra G A 6: 106,718,226 (GRCm39) T76I probably damaging Het
Itga8 T C 2: 12,196,525 (GRCm39) T631A probably benign Het
Kcnh6 G A 11: 105,909,978 (GRCm39) probably null Het
Krt26 C T 11: 99,224,415 (GRCm39) E368K probably benign Het
Lhx9 T C 1: 138,766,281 (GRCm39) D169G possibly damaging Het
Lmod3 A G 6: 97,224,234 (GRCm39) L529P probably damaging Het
Mroh2a G A 1: 88,158,390 (GRCm39) V146M probably damaging Het
Or11g24 A G 14: 50,661,984 (GRCm39) T3A probably benign Het
Or1e1 T C 11: 73,244,582 (GRCm39) M1T probably null Het
Or1j13 T A 2: 36,369,996 (GRCm39) I49F probably damaging Het
Or1p4-ps1 T C 11: 74,208,285 (GRCm39) *145R probably null Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Papln G C 12: 83,821,454 (GRCm39) G262A probably damaging Het
Pdcd1lg2 G A 19: 29,423,435 (GRCm39) V160I probably benign Het
Pde8b A G 13: 95,164,105 (GRCm39) probably benign Het
Ppme1 G A 7: 100,004,002 (GRCm39) R68* probably null Het
Ptprn2 A T 12: 117,219,215 (GRCm39) N949Y probably damaging Het
Qser1 C A 2: 104,617,468 (GRCm39) D1115Y probably damaging Het
Rad54l G T 4: 115,954,666 (GRCm39) D674E probably damaging Het
Ripk4 T A 16: 97,545,387 (GRCm39) D420V probably damaging Het
Ros1 G T 10: 51,954,067 (GRCm39) S1857R probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rsf1 A G 7: 97,311,316 (GRCm39) E682G probably benign Het
Samd4 G A 14: 47,325,329 (GRCm39) R515H probably damaging Het
Selp T A 1: 163,969,079 (GRCm39) W560R probably benign Het
Shc3 A T 13: 51,615,468 (GRCm39) L163Q probably damaging Het
Shh G A 5: 28,666,397 (GRCm39) A163V probably damaging Het
Slc17a8 T C 10: 89,427,937 (GRCm39) R113G possibly damaging Het
Slc5a6 C A 5: 31,206,168 (GRCm39) probably benign Het
Smarcd2 A G 11: 106,157,715 (GRCm39) probably null Het
Sytl3 A G 17: 6,995,664 (GRCm39) D148G probably damaging Het
Tnks G T 8: 35,385,615 (GRCm39) H297Q possibly damaging Het
Trbv21 A T 6: 41,179,568 (GRCm39) probably benign Het
Ube3c T C 5: 29,806,161 (GRCm39) F268L probably benign Het
Ugt2b5 T C 5: 87,287,541 (GRCm39) I209V probably benign Het
Usp1 A G 4: 98,818,082 (GRCm39) N140S probably damaging Het
Vcam1 T C 3: 115,919,606 (GRCm39) Y226C probably damaging Het
Vmn1r129 T A 7: 21,094,534 (GRCm39) Q228L probably damaging Het
Vmn1r209 T A 13: 22,990,202 (GRCm39) N163Y probably benign Het
Vmn1r85 A G 7: 12,818,854 (GRCm39) S97P probably damaging Het
Vmn2r30 C T 7: 7,337,350 (GRCm39) M95I probably benign Het
Vmn2r74 G A 7: 85,601,098 (GRCm39) R847C probably damaging Het
Wdr70 G A 15: 7,916,830 (GRCm39) T529I possibly damaging Het
Zfp532 T G 18: 65,757,005 (GRCm39) S313A possibly damaging Het
Zhx3 A T 2: 160,621,463 (GRCm39) N901K probably benign 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
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
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 2017-06-26