Incidental Mutation 'R1483:Nup50'
ID 165732
Institutional Source Beutler Lab
Gene Symbol Nup50
Ensembl Gene ENSMUSG00000016619
Gene Name nucleoporin 50
Synonyms Npap60, 1700030K07Rik
MMRRC Submission 039536-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1483 (G1)
Quality Score 175
Status Not validated
Chromosome 15
Chromosomal Location 84807612-84827164 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84823928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 427 (V427D)
Ref Sequence ENSEMBL: ENSMUSP00000155656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047144] [ENSMUST00000165443] [ENSMUST00000230411]
AlphaFold Q9JIH2
Predicted Effect probably benign
Transcript: ENSMUST00000047144
SMART Domains Protein: ENSMUSP00000037011
Gene: ENSMUSG00000036046

DomainStartEndE-ValueType
Pfam:DUF2045 25 264 7.4e-123 PFAM
low complexity region 347 362 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165443
AA Change: V427D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131457
Gene: ENSMUSG00000016619
AA Change: V427D

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 damaging
Transcript: ENSMUST00000230411
AA Change: V427D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.0%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 T A 7: 133,531,754 (GRCm39) T494S probably benign Het
Akap6 C T 12: 52,842,870 (GRCm39) P73S probably damaging Het
Amotl2 A T 9: 102,608,096 (GRCm39) T763S probably benign Het
Brd10 G A 19: 29,696,745 (GRCm39) P916L possibly damaging Het
Cdc5l A T 17: 45,719,290 (GRCm39) V541D possibly damaging Het
Chl1 A G 6: 103,624,248 (GRCm39) Y52C probably damaging Het
D6Wsu163e A G 6: 126,931,733 (GRCm39) E255G probably benign Het
Ddhd2 A G 8: 26,243,155 (GRCm39) S126P probably benign Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Drc3 A G 11: 60,279,715 (GRCm39) I427V probably benign Het
Drg2 T C 11: 60,350,353 (GRCm39) I104T probably damaging Het
Dst C T 1: 34,292,079 (GRCm39) A932V probably damaging Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Eif3a A T 19: 60,757,164 (GRCm39) D880E unknown Het
Elf1 T A 14: 79,818,078 (GRCm39) D569E probably benign Het
Esp6 T A 17: 40,873,816 (GRCm39) M1K probably null Het
Fer1l6 T C 15: 58,509,819 (GRCm39) V1427A possibly damaging Het
Gsta1 A T 9: 78,149,775 (GRCm39) K196M probably damaging Het
Gzme T A 14: 56,356,169 (GRCm39) I110F probably damaging Het
H2-DMa T A 17: 34,354,724 (GRCm39) V27E possibly damaging Het
H2-T10 A T 17: 36,432,038 (GRCm39) S2T probably benign Het
Hadhb A G 5: 30,374,492 (GRCm39) probably null Het
Hoxa11 G T 6: 52,220,436 (GRCm39) D282E probably damaging Het
Ifit1bl1 A G 19: 34,572,041 (GRCm39) Y139H possibly damaging Het
Ift27 A G 15: 78,049,436 (GRCm39) V88A possibly damaging Het
Knop1 C T 7: 118,452,273 (GRCm39) A149T probably damaging Het
Macf1 T A 4: 123,404,770 (GRCm39) K597I probably damaging Het
Med16 A T 10: 79,738,934 (GRCm39) I284N possibly damaging Het
Melk T A 4: 44,308,937 (GRCm39) I98K probably damaging Het
Mst1 G T 9: 107,958,849 (GRCm39) G127V probably benign Het
Nacad A G 11: 6,552,217 (GRCm39) S325P probably damaging Het
Nbea G A 3: 55,910,211 (GRCm39) P1328L probably benign Het
Nek5 C T 8: 22,586,806 (GRCm39) S335N probably benign Het
Nif3l1 C A 1: 58,486,885 (GRCm39) R24S probably benign Het
Nlrp14 T G 7: 106,789,329 (GRCm39) N39K possibly damaging Het
Nwd1 C T 8: 73,383,714 (GRCm39) P78L probably damaging Het
Or5an9 T A 19: 12,187,114 (GRCm39) Y61* probably null Het
Pate8 G A 9: 36,492,620 (GRCm39) S95L probably benign Het
Pnkd A G 1: 74,388,550 (GRCm39) Y242C probably benign Het
Ppm1g T C 5: 31,360,465 (GRCm39) D423G probably benign Het
Pramel32 T A 4: 88,547,071 (GRCm39) Q116L probably damaging Het
Prkci A T 3: 31,097,941 (GRCm39) N464Y probably damaging Het
Ptprf C T 4: 118,093,161 (GRCm39) V494M possibly damaging Het
Rapgef4 T G 2: 71,885,370 (GRCm39) probably null Het
Rbak T C 5: 143,160,099 (GRCm39) E318G probably damaging Het
Rora A G 9: 69,271,667 (GRCm39) D215G probably benign Het
Rp1l1 C T 14: 64,266,496 (GRCm39) T694I possibly damaging Het
Scrib A G 15: 75,929,771 (GRCm39) L1032P probably damaging Het
Sectm1b G A 11: 120,946,652 (GRCm39) T81M probably benign Het
Sgk3 T C 1: 9,942,518 (GRCm39) F97L possibly damaging Het
Socs3 A T 11: 117,858,394 (GRCm39) Y221* probably null Het
Spata31d1e A T 13: 59,890,717 (GRCm39) S368T probably damaging Het
Tdrd6 T A 17: 43,938,498 (GRCm39) H850L probably benign Het
Tex44 G T 1: 86,354,908 (GRCm39) Q272H probably damaging Het
Tgfbr2 A C 9: 115,938,625 (GRCm39) S426A probably benign Het
Tmem39b T C 4: 129,570,456 (GRCm39) Y461C probably damaging Het
Ttn T A 2: 76,555,337 (GRCm39) D30556V probably damaging Het
Tubgcp5 T A 7: 55,475,455 (GRCm39) probably null Het
Vmn2r70 T C 7: 85,208,375 (GRCm39) I701V probably benign Het
Vps39 A T 2: 120,154,129 (GRCm39) L622Q probably damaging Het
Wdfy4 T A 14: 32,822,923 (GRCm39) H1347L probably benign Het
Xpo1 A G 11: 23,234,863 (GRCm39) I540V probably benign Het
Xylt2 A C 11: 94,560,393 (GRCm39) M294R probably benign Het
Zfp788 T G 7: 41,298,499 (GRCm39) Y326* probably null Het
Zim1 A G 7: 6,685,124 (GRCm39) F109L 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
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
R3005:Nup50 UTSW 15 84,813,661 (GRCm39) splice site probably null
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'- TTGTAAGCGCCTGAAGCTGGAG -3'
(R):5'- AACGTGGCAACATGCCTTGGTC -3'

Sequencing Primer
(F):5'- AGAAGTCGCTTCAGGATTGACTC -3'
(R):5'- ATGCCTTGGTCAGCCTCAG -3'
Posted On 2014-03-28