Incidental Mutation 'R1545:Nup50'
ID 172137
Institutional Source Beutler Lab
Gene Symbol Nup50
Ensembl Gene ENSMUSG00000016619
Gene Name nucleoporin 50
Synonyms Npap60, 1700030K07Rik
MMRRC Submission 039584-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1545 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 84807612-84827164 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84823993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 449 (T449A)
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 possibly damaging
Transcript: ENSMUST00000165443
AA Change: T449A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000131457
Gene: ENSMUSG00000016619
AA Change: T449A

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 possibly damaging
Transcript: ENSMUST00000230411
AA Change: T449A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.6%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas C T 15: 102,247,641 (GRCm39) R410H probably damaging Het
Abca2 T C 2: 25,332,370 (GRCm39) C1468R probably benign Het
Actl9 T A 17: 33,652,231 (GRCm39) I97N probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Asb3 T A 11: 31,006,217 (GRCm39) M234K probably benign Het
Bax A C 7: 45,111,357 (GRCm39) H168Q probably null Het
Brinp1 A G 4: 68,681,192 (GRCm39) L446P possibly damaging Het
Cdc14a A G 3: 116,087,373 (GRCm39) probably null Het
Cfap299 C A 5: 98,477,291 (GRCm39) Q27K probably benign Het
Cpq A T 15: 33,250,146 (GRCm39) I168F probably damaging Het
Crkl A T 16: 17,301,556 (GRCm39) N270I probably damaging Het
Cul7 G A 17: 46,962,479 (GRCm39) E37K probably damaging Het
Eps15 C T 4: 109,169,526 (GRCm39) T112I probably benign Het
F5 C T 1: 164,036,529 (GRCm39) R1897* probably null Het
Fbxl5 A T 5: 43,928,140 (GRCm39) L40Q probably damaging Het
Fhip1a C T 3: 85,573,261 (GRCm39) S896N probably damaging Het
Gprc5a C A 6: 135,060,459 (GRCm39) T316K probably damaging Het
Hectd4 T A 5: 121,462,019 (GRCm39) L2299Q possibly damaging Het
Khdc3 C G 9: 73,010,942 (GRCm39) P240R probably benign Het
Kif20b A G 19: 34,906,318 (GRCm39) T69A probably damaging Het
Kptn C G 7: 15,857,888 (GRCm39) Q239E probably benign Het
Lep T C 6: 29,070,831 (GRCm39) S52P probably damaging Het
Lrig3 G A 10: 125,844,416 (GRCm39) V627M possibly damaging Het
Lrrc37 T C 11: 103,499,745 (GRCm39) K615E probably benign Het
Mdga1 G A 17: 30,061,876 (GRCm39) R792C probably damaging Het
Mink1 T C 11: 70,489,717 (GRCm39) V58A possibly damaging Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Nrg3 T A 14: 38,129,111 (GRCm39) I375F probably benign Het
Nup98 A G 7: 101,784,087 (GRCm39) S1082P possibly damaging Het
Or8b1b C A 9: 38,375,815 (GRCm39) H159Q probably benign Het
Otub1 T C 19: 7,176,571 (GRCm39) I188V probably benign Het
Pcdhac2 T C 18: 37,279,186 (GRCm39) I722T possibly damaging Het
Pcsk7 T A 9: 45,825,646 (GRCm39) D292E probably damaging Het
Peli2 T A 14: 48,490,174 (GRCm39) D215E probably benign Het
Ppp1r9a T C 6: 5,156,242 (GRCm39) probably null Het
Ppp2r1b A G 9: 50,773,725 (GRCm39) K136R possibly damaging Het
Prpf3 T C 3: 95,755,115 (GRCm39) K157E probably damaging Het
Prss50 T C 9: 110,690,336 (GRCm39) S160P probably damaging Het
Ptprb T C 10: 116,216,774 (GRCm39) V2251A probably damaging Het
Rgs6 G A 12: 83,162,951 (GRCm39) E386K probably damaging Het
Rida A G 15: 34,495,250 (GRCm39) I5T probably benign Het
Rpe A G 1: 66,740,169 (GRCm39) H35R probably damaging Het
Sema4b T A 7: 79,868,771 (GRCm39) D321E probably benign Het
Slc22a13 G A 9: 119,038,113 (GRCm39) A5V probably benign Het
Snta1 C T 2: 154,218,926 (GRCm39) probably null Het
Spdye4c T A 2: 128,437,632 (GRCm39) N220K probably benign Het
Sult1c2 G T 17: 54,269,176 (GRCm39) A280E possibly damaging Het
Tfr2 A G 5: 137,581,561 (GRCm39) E579G probably benign Het
Tmem221 A G 8: 72,011,182 (GRCm39) L91P probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Vmn1r17 A G 6: 57,338,317 (GRCm39) V16A probably benign Het
Vmn1r188 A G 13: 22,272,603 (GRCm39) R186G probably damaging Het
Wfikkn1 A G 17: 26,097,565 (GRCm39) V253A probably damaging 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
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'- AGGATTGACTCCTAGCCTCTTACGG -3'
(R):5'- TGAGGGAGCCTTTGGAGAGCTAAC -3'

Sequencing Primer
(F):5'- TAGCCTCTTACGGAATCCTACAG -3'
(R):5'- GACACACTGAAAGGATTTATTGGC -3'
Posted On 2014-04-13