Incidental Mutation 'R3005:Nup50'
ID 257425
Institutional Source Beutler Lab
Gene Symbol Nup50
Ensembl Gene ENSMUSG00000016619
Gene Name nucleoporin 50
Synonyms Npap60, 1700030K07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3005 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 84807612-84827164 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 84813661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165443] [ENSMUST00000230411]
AlphaFold Q9JIH2
Predicted Effect probably null
Transcript: ENSMUST00000165443
SMART Domains Protein: ENSMUSP00000131457
Gene: ENSMUSG00000016619

DomainStartEndE-ValueType
Pfam:NUP50 2 80 1.2e-22 PFAM
low complexity region 277 302 N/A INTRINSIC
RanBD 340 463 4.83e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000230411
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation die perinatally, displaying neural tube defects, exencephaly, and intrauterine growth retardation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cep162 C A 9: 87,114,113 (GRCm39) V320L probably benign Het
Cnga1 T A 5: 72,762,450 (GRCm39) I355F probably damaging Het
Csnk1e T C 15: 79,323,005 (GRCm39) I15V probably benign Het
Dele1 T A 18: 38,393,012 (GRCm39) N405K possibly damaging Het
Exosc8 T C 3: 54,639,568 (GRCm39) probably null Het
Garre1 T C 7: 33,984,209 (GRCm39) E138G probably damaging Het
Gstm3 G T 3: 107,874,923 (GRCm39) Q110K probably benign Het
Hace1 G A 10: 45,524,959 (GRCm39) G242R probably damaging Het
Lcn6 T A 2: 25,567,261 (GRCm39) probably null Het
Msh6 A G 17: 88,295,713 (GRCm39) E1088G probably benign Het
Nlrp4c G A 7: 6,068,524 (GRCm39) V142M probably benign Het
Or51g2 C T 7: 102,622,465 (GRCm39) V245I possibly damaging Het
Ppp2r5a A T 1: 191,091,173 (GRCm39) F218Y probably damaging Het
Ptov1 T C 7: 44,513,886 (GRCm39) N52S probably damaging Het
Rif1 G A 2: 51,972,776 (GRCm39) A303T probably damaging Het
Ror1 T A 4: 100,298,961 (GRCm39) V778E probably damaging Het
Tcaf3 A T 6: 42,570,978 (GRCm39) L258H probably damaging Het
Utp20 C A 10: 88,613,317 (GRCm39) K1321N probably damaging Het
Vmn2r54 T A 7: 12,349,221 (GRCm39) Q787L probably benign Het
Other mutations in Nup50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Nup50 APN 15 84,819,605 (GRCm39) missense probably benign 0.33
IGL00939:Nup50 APN 15 84,822,621 (GRCm39) nonsense probably null
R1483:Nup50 UTSW 15 84,823,928 (GRCm39) missense probably damaging 1.00
R1545:Nup50 UTSW 15 84,823,993 (GRCm39) missense possibly damaging 0.51
R2504:Nup50 UTSW 15 84,817,859 (GRCm39) missense probably benign 0.00
R3690:Nup50 UTSW 15 84,823,994 (GRCm39) missense probably damaging 1.00
R4851:Nup50 UTSW 15 84,823,912 (GRCm39) missense probably benign 0.03
R5902:Nup50 UTSW 15 84,819,641 (GRCm39) missense probably benign 0.00
R7205:Nup50 UTSW 15 84,817,859 (GRCm39) missense probably benign 0.00
R8350:Nup50 UTSW 15 84,819,476 (GRCm39) missense probably benign 0.01
R8450:Nup50 UTSW 15 84,819,476 (GRCm39) missense probably benign 0.01
R9241:Nup50 UTSW 15 84,822,611 (GRCm39) missense possibly damaging 0.53
R9677:Nup50 UTSW 15 84,819,479 (GRCm39) missense possibly damaging 0.72
R9706:Nup50 UTSW 15 84,811,648 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AATGCCAGATAAGTGTTTGTGCTC -3'
(R):5'- GTCACTTACTGAACAGCCAGATC -3'

Sequencing Primer
(F):5'- AAGTGTTTGTGCTCAGTTTTACTCTC -3'
(R):5'- TCAGTCCTCGCCATGAGC -3'
Posted On 2015-01-11