Incidental Mutation 'R6267:Nup155'
ID 507110
Institutional Source Beutler Lab
Gene Symbol Nup155
Ensembl Gene ENSMUSG00000022142
Gene Name nucleoporin 155
Synonyms D930027M19Rik
MMRRC Submission 044405-MU
Accession Numbers

Genbank: NM_133227

Essential gene? Essential (E-score: 1.000) question?
Stock # R6267 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 8109273-8161247 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8153155 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 1201 (C1201S)
Ref Sequence ENSEMBL: ENSMUSP00000155093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163765] [ENSMUST00000230017]
AlphaFold Q99P88
Predicted Effect probably damaging
Transcript: ENSMUST00000163765
AA Change: C1201S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128819
Gene: ENSMUSG00000022142
AA Change: C1201S

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 damaging
Transcript: ENSMUST00000230017
AA Change: C1201S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230925
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700014D04Rik T C 13: 59,742,683 (GRCm38) D441G probably benign Het
4933427D14Rik T C 11: 72,195,754 (GRCm38) K277R probably damaging Het
Aatf T C 11: 84,473,100 (GRCm38) Y267C probably benign Het
Abi3bp A G 16: 56,594,497 (GRCm38) T341A probably damaging Het
Acer2 T C 4: 86,874,586 (GRCm38) F33S probably damaging Het
Actr1b A G 1: 36,701,163 (GRCm38) V299A possibly damaging Het
Ampd3 T A 7: 110,791,180 (GRCm38) probably null Het
Atm A C 9: 53,444,000 (GRCm38) I2898R probably damaging Het
Bpifb6 G C 2: 153,906,892 (GRCm38) K269N possibly damaging Het
Cacna1c T C 6: 118,598,723 (GRCm38) E1927G possibly damaging Het
Cacna1c T A 6: 118,652,714 (GRCm38) T1249S probably benign Het
Cars2 TCCCC TCCC 8: 11,529,599 (GRCm38) probably null Het
Cbll1 A G 12: 31,487,508 (GRCm38) V415A probably benign Het
Cd300lf C T 11: 115,124,369 (GRCm38) V132I probably benign Het
Chd2 T C 7: 73,463,671 (GRCm38) E1187G probably damaging Het
Cntrl T C 2: 35,129,793 (GRCm38) L544P probably damaging Het
Cryga A C 1: 65,103,010 (GRCm38) S75A probably benign Het
Dcbld1 T A 10: 52,319,480 (GRCm38) Y261* probably null Het
Ddx11 G A 17: 66,150,729 (GRCm38) probably null Het
Dgke C T 11: 89,040,749 (GRCm38) V560I probably benign Het
Dst A C 1: 34,228,672 (GRCm38) D5065A probably damaging Het
Dusp16 C A 6: 134,720,493 (GRCm38) probably null Het
Eif4enif1 T A 11: 3,227,793 (GRCm38) V395E probably damaging Het
Enox1 A G 14: 77,577,764 (GRCm38) T121A probably damaging Het
Enpp4 G T 17: 44,102,480 (GRCm38) N54K probably benign Het
Erc2 A T 14: 28,080,155 (GRCm38) K764M probably damaging Het
Ercc6 G T 14: 32,526,403 (GRCm38) E304* probably null Het
Fam117a T A 11: 95,364,145 (GRCm38) C115S possibly damaging Het
Fcrl5 G A 3: 87,448,324 (GRCm38) G448E probably damaging Het
Galntl5 T C 5: 25,186,165 (GRCm38) S21P probably benign Het
Garnl3 T C 2: 33,104,880 (GRCm38) D39G probably benign Het
Gm14295 C T 2: 176,808,989 (GRCm38) Q91* probably null Het
Grb10 T A 11: 11,970,639 (GRCm38) probably benign Het
Grip1 C T 10: 120,075,464 (GRCm38) Q696* probably null Het
Herc2 T G 7: 56,204,718 (GRCm38) L3797R possibly damaging Het
Herc2 T A 7: 56,153,166 (GRCm38) C2112* probably null Het
Ighm T C 12: 113,421,567 (GRCm38) I258V unknown Het
Jarid2 T A 13: 44,903,063 (GRCm38) Y443N possibly damaging Het
Kif13b A G 14: 64,738,634 (GRCm38) Y466C probably damaging Het
Krtap4-6 T A 11: 99,665,419 (GRCm38) R161* probably null Het
Lingo4 G A 3: 94,403,390 (GRCm38) G545E probably benign Het
Lmo2 T G 2: 103,970,601 (GRCm38) V39G possibly damaging Het
Lor C A 3: 92,081,812 (GRCm38) G56* probably null Het
Lrfn1 A G 7: 28,459,744 (GRCm38) R363G probably benign Het
Lrp1b T C 2: 40,657,525 (GRCm38) D446G probably benign Het
Ltbp1 G T 17: 75,005,989 (GRCm38) G35V possibly damaging Het
Magel2 G A 7: 62,378,679 (GRCm38) V444M probably damaging Het
Mkx A T 18: 7,000,591 (GRCm38) probably null Het
Ms4a7 A T 19: 11,333,295 (GRCm38) I20N possibly damaging Het
Myo5b A G 18: 74,616,991 (GRCm38) Y173C probably damaging Het
Nek1 C T 8: 61,072,309 (GRCm38) Q594* probably null Het
Nipbl T C 15: 8,300,895 (GRCm38) M2349V possibly damaging Het
Nmnat2 A T 1: 153,076,971 (GRCm38) H102L probably damaging Het
Olfr1249 G A 2: 89,630,631 (GRCm38) T89I probably damaging Het
Olfr1373 C A 11: 52,144,596 (GRCm38) R311S probably benign Het
Olfr686 G A 7: 105,203,392 (GRCm38) T317I probably damaging Het
Osbpl1a A G 18: 12,819,503 (GRCm38) probably null Het
Pcnt A G 10: 76,385,798 (GRCm38) V1998A probably benign Het
Pitpnc1 T C 11: 107,226,266 (GRCm38) H193R probably damaging Het
Pitpnm1 T C 19: 4,110,522 (GRCm38) L781P probably damaging Het
Prdm14 A T 1: 13,118,936 (GRCm38) C395S probably damaging Het
Prmt8 A G 6: 127,711,804 (GRCm38) I201T probably damaging Het
Pter T C 2: 12,978,541 (GRCm38) V119A probably damaging Het
Rab11fip4 T C 11: 79,690,829 (GRCm38) probably null Het
Rgs9 T C 11: 109,268,987 (GRCm38) N173S probably benign Het
Rorb C A 19: 18,977,857 (GRCm38) V47L possibly damaging Het
Rtn4r A G 16: 18,151,182 (GRCm38) Y158C probably damaging Het
Sdr16c5 C T 4: 4,016,162 (GRCm38) G88E probably damaging Het
Sfxn1 C T 13: 54,093,880 (GRCm38) T208I probably benign Het
Sgo2b C T 8: 63,927,793 (GRCm38) M668I probably benign Het
Slc52a3 G T 2: 152,007,609 (GRCm38) probably null Het
Smco1 A T 16: 32,274,014 (GRCm38) M168L probably benign Het
Spata31d1d G A 13: 59,728,464 (GRCm38) T419I possibly damaging Het
Spink5 T C 18: 44,014,757 (GRCm38) S857P probably damaging Het
Stk35 T A 2: 129,810,888 (GRCm38) Y436* probably null Het
Tmem225 T A 9: 40,148,435 (GRCm38) I37N probably damaging Het
Unkl T C 17: 25,231,865 (GRCm38) *232R probably null Het
Usp16 A G 16: 87,483,191 (GRCm38) N813S probably benign Het
Vmn1r128 A T 7: 21,350,296 (GRCm38) *308C probably null Het
Vmn2r45 A G 7: 8,472,208 (GRCm38) V607A probably benign Het
Vmn2r63 A T 7: 42,928,635 (GRCm38) probably null Het
Wnk4 A T 11: 101,273,998 (GRCm38) N718Y probably damaging Het
Zfp503 G C 14: 21,985,800 (GRCm38) Y349* probably null Het
Zfp990 T A 4: 145,538,103 (GRCm38) F557Y possibly damaging Het
Other mutations in Nup155
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Nup155 APN 15 8,121,455 (GRCm38) splice site probably benign
IGL00426:Nup155 APN 15 8,156,794 (GRCm38) makesense probably null
IGL00765:Nup155 APN 15 8,153,228 (GRCm38) missense probably benign 0.16
IGL00936:Nup155 APN 15 8,128,405 (GRCm38) splice site probably benign
IGL01124:Nup155 APN 15 8,153,679 (GRCm38) missense probably damaging 0.97
IGL01739:Nup155 APN 15 8,135,788 (GRCm38) missense probably benign 0.01
IGL02013:Nup155 APN 15 8,113,648 (GRCm38) missense possibly damaging 0.61
IGL02066:Nup155 APN 15 8,157,766 (GRCm38) unclassified probably benign
IGL02231:Nup155 APN 15 8,144,064 (GRCm38) missense probably damaging 1.00
IGL02246:Nup155 APN 15 8,143,002 (GRCm38) missense probably benign
IGL02289:Nup155 APN 15 8,131,493 (GRCm38) missense probably damaging 1.00
IGL02608:Nup155 APN 15 8,109,471 (GRCm38) missense probably benign
IGL02749:Nup155 APN 15 8,134,076 (GRCm38) missense probably damaging 1.00
IGL02813:Nup155 APN 15 8,130,121 (GRCm38) splice site probably benign
IGL03102:Nup155 APN 15 8,147,284 (GRCm38) missense probably benign 0.00
H8930:Nup155 UTSW 15 8,157,658 (GRCm38) missense possibly damaging 0.50
IGL02835:Nup155 UTSW 15 8,143,130 (GRCm38) missense probably damaging 1.00
R0314:Nup155 UTSW 15 8,147,252 (GRCm38) missense probably benign 0.00
R0365:Nup155 UTSW 15 8,131,543 (GRCm38) missense probably damaging 1.00
R0586:Nup155 UTSW 15 8,130,232 (GRCm38) missense probably benign 0.39
R0764:Nup155 UTSW 15 8,157,760 (GRCm38) missense probably damaging 1.00
R0839:Nup155 UTSW 15 8,145,587 (GRCm38) missense possibly damaging 0.48
R0844:Nup155 UTSW 15 8,157,760 (GRCm38) missense probably damaging 1.00
R1066:Nup155 UTSW 15 8,157,760 (GRCm38) missense probably damaging 1.00
R1067:Nup155 UTSW 15 8,157,760 (GRCm38) missense probably damaging 1.00
R1085:Nup155 UTSW 15 8,157,760 (GRCm38) missense probably damaging 1.00
R1137:Nup155 UTSW 15 8,157,760 (GRCm38) missense probably damaging 1.00
R1162:Nup155 UTSW 15 8,157,760 (GRCm38) missense probably damaging 1.00
R1166:Nup155 UTSW 15 8,157,760 (GRCm38) missense probably damaging 1.00
R1202:Nup155 UTSW 15 8,157,760 (GRCm38) missense probably damaging 1.00
R1203:Nup155 UTSW 15 8,157,760 (GRCm38) missense probably damaging 1.00
R1219:Nup155 UTSW 15 8,117,338 (GRCm38) missense possibly damaging 0.80
R1385:Nup155 UTSW 15 8,157,760 (GRCm38) missense probably damaging 1.00
R1421:Nup155 UTSW 15 8,157,760 (GRCm38) missense probably damaging 1.00
R1448:Nup155 UTSW 15 8,112,406 (GRCm38) missense probably benign 0.44
R1611:Nup155 UTSW 15 8,130,160 (GRCm38) missense probably damaging 1.00
R1836:Nup155 UTSW 15 8,154,980 (GRCm38) missense possibly damaging 0.79
R1863:Nup155 UTSW 15 8,157,760 (GRCm38) missense probably damaging 1.00
R1866:Nup155 UTSW 15 8,115,526 (GRCm38) missense probably damaging 1.00
R1894:Nup155 UTSW 15 8,157,760 (GRCm38) missense probably damaging 1.00
R1976:Nup155 UTSW 15 8,135,827 (GRCm38) missense probably benign 0.01
R2024:Nup155 UTSW 15 8,157,760 (GRCm38) missense probably damaging 1.00
R2026:Nup155 UTSW 15 8,157,760 (GRCm38) missense probably damaging 1.00
R2027:Nup155 UTSW 15 8,157,760 (GRCm38) missense probably damaging 1.00
R2077:Nup155 UTSW 15 8,143,026 (GRCm38) missense probably damaging 1.00
R2111:Nup155 UTSW 15 8,121,467 (GRCm38) missense probably benign 0.45
R2921:Nup155 UTSW 15 8,153,641 (GRCm38) missense probably damaging 1.00
R2936:Nup155 UTSW 15 8,143,049 (GRCm38) missense possibly damaging 0.89
R3108:Nup155 UTSW 15 8,117,306 (GRCm38) missense probably null 1.00
R3161:Nup155 UTSW 15 8,148,383 (GRCm38) missense possibly damaging 0.56
R3162:Nup155 UTSW 15 8,148,383 (GRCm38) missense possibly damaging 0.56
R3162:Nup155 UTSW 15 8,148,383 (GRCm38) missense possibly damaging 0.56
R3522:Nup155 UTSW 15 8,156,678 (GRCm38) splice site probably benign
R4423:Nup155 UTSW 15 8,121,464 (GRCm38) missense probably damaging 0.99
R4451:Nup155 UTSW 15 8,150,882 (GRCm38) missense probably benign 0.02
R4498:Nup155 UTSW 15 8,153,673 (GRCm38) missense possibly damaging 0.88
R4780:Nup155 UTSW 15 8,157,703 (GRCm38) missense probably benign 0.00
R4822:Nup155 UTSW 15 8,128,526 (GRCm38) missense possibly damaging 0.49
R5013:Nup155 UTSW 15 8,124,238 (GRCm38) missense probably benign 0.00
R5064:Nup155 UTSW 15 8,135,870 (GRCm38) missense probably damaging 1.00
R5172:Nup155 UTSW 15 8,109,542 (GRCm38) missense probably benign 0.06
R5406:Nup155 UTSW 15 8,153,638 (GRCm38) critical splice acceptor site probably null
R5551:Nup155 UTSW 15 8,148,333 (GRCm38) missense probably benign 0.09
R5588:Nup155 UTSW 15 8,119,253 (GRCm38) critical splice donor site probably null
R5977:Nup155 UTSW 15 8,130,237 (GRCm38) critical splice donor site probably null
R6035:Nup155 UTSW 15 8,144,093 (GRCm38) missense probably benign
R6035:Nup155 UTSW 15 8,144,093 (GRCm38) missense probably benign
R6036:Nup155 UTSW 15 8,128,411 (GRCm38) missense probably benign 0.16
R6036:Nup155 UTSW 15 8,128,411 (GRCm38) missense probably benign 0.16
R6085:Nup155 UTSW 15 8,148,358 (GRCm38) missense probably damaging 0.98
R6188:Nup155 UTSW 15 8,109,575 (GRCm38) missense probably damaging 1.00
R6232:Nup155 UTSW 15 8,109,479 (GRCm38) missense probably benign 0.02
R6257:Nup155 UTSW 15 8,150,798 (GRCm38) nonsense probably null
R6262:Nup155 UTSW 15 8,156,741 (GRCm38) missense probably benign 0.03
R6296:Nup155 UTSW 15 8,153,155 (GRCm38) missense probably damaging 1.00
R6299:Nup155 UTSW 15 8,128,438 (GRCm38) missense possibly damaging 0.88
R6303:Nup155 UTSW 15 8,118,042 (GRCm38) missense probably damaging 1.00
R6304:Nup155 UTSW 15 8,118,042 (GRCm38) missense probably damaging 1.00
R6763:Nup155 UTSW 15 8,135,895 (GRCm38) nonsense probably null
R6958:Nup155 UTSW 15 8,147,154 (GRCm38) missense probably damaging 1.00
R7088:Nup155 UTSW 15 8,156,693 (GRCm38) missense probably benign 0.11
R7313:Nup155 UTSW 15 8,154,922 (GRCm38) missense probably damaging 0.96
R7451:Nup155 UTSW 15 8,145,607 (GRCm38) nonsense probably null
R7560:Nup155 UTSW 15 8,155,047 (GRCm38) missense probably benign 0.39
R7633:Nup155 UTSW 15 8,109,453 (GRCm38) missense probably damaging 0.99
R7670:Nup155 UTSW 15 8,153,696 (GRCm38) missense probably damaging 0.99
R7726:Nup155 UTSW 15 8,122,139 (GRCm38) missense probably damaging 1.00
R7752:Nup155 UTSW 15 8,116,442 (GRCm38) missense possibly damaging 0.53
R7889:Nup155 UTSW 15 8,121,507 (GRCm38) missense probably damaging 0.98
R7899:Nup155 UTSW 15 8,119,179 (GRCm38) missense probably damaging 1.00
R7901:Nup155 UTSW 15 8,116,442 (GRCm38) missense possibly damaging 0.53
R8429:Nup155 UTSW 15 8,112,420 (GRCm38) missense probably damaging 0.96
R8467:Nup155 UTSW 15 8,121,531 (GRCm38) missense probably benign 0.00
R8507:Nup155 UTSW 15 8,147,560 (GRCm38) nonsense probably null
R8860:Nup155 UTSW 15 8,130,156 (GRCm38) missense possibly damaging 0.96
R8994:Nup155 UTSW 15 8,143,161 (GRCm38) critical splice donor site probably null
R9046:Nup155 UTSW 15 8,128,435 (GRCm38) frame shift probably null
R9086:Nup155 UTSW 15 8,148,346 (GRCm38) missense possibly damaging 0.84
R9500:Nup155 UTSW 15 8,112,316 (GRCm38) missense probably damaging 1.00
RF003:Nup155 UTSW 15 8,119,176 (GRCm38) critical splice acceptor site probably benign
RF048:Nup155 UTSW 15 8,119,176 (GRCm38) critical splice acceptor site probably benign
Z1177:Nup155 UTSW 15 8,120,489 (GRCm38) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- TTAAACTGGGGTCCCATTCCC -3'
(R):5'- TATACATAGCCCATTTCCATACTGC -3'

Sequencing Primer
(F):5'- GGGGTCCCATTCCCATTGC -3'
(R):5'- CTAGCAGCTTGTGTTCATTTGGATAC -3'
Posted On 2018-03-15