Incidental Mutation 'R2221:Nup188'
ID 241470
Institutional Source Beutler Lab
Gene Symbol Nup188
Ensembl Gene ENSMUSG00000052533
Gene Name nucleoporin 188
Synonyms
MMRRC Submission 040223-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # R2221 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 30176419-30234278 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 30226936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000065836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064447]
AlphaFold Q6ZQH8
Predicted Effect probably benign
Transcript: ENSMUST00000064447
SMART Domains Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533

DomainStartEndE-ValueType
Pfam:Nup188 31 941 9.3e-213 PFAM
low complexity region 1020 1035 N/A INTRINSIC
low complexity region 1307 1320 N/A INTRINSIC
low complexity region 1330 1360 N/A INTRINSIC
low complexity region 1696 1709 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A C 4: 86,306,762 (GRCm39) D1392A probably benign Het
Afdn T C 17: 14,103,999 (GRCm39) probably benign Het
Aph1b A T 9: 66,691,921 (GRCm39) M121K probably damaging Het
Aspg G A 12: 112,080,868 (GRCm39) A120T probably damaging Het
Bicd1 A G 6: 149,418,503 (GRCm39) T725A probably damaging Het
Cd1d2 A T 3: 86,895,847 (GRCm39) I292F probably damaging Het
Cdcp3 A T 7: 130,849,186 (GRCm39) probably null Het
Cdk13 A G 13: 17,894,120 (GRCm39) V495A probably damaging Het
Cfd A T 10: 79,728,039 (GRCm39) probably null Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Cradd A C 10: 95,011,735 (GRCm39) V135G probably benign Het
Cry1 A G 10: 84,979,617 (GRCm39) C460R probably damaging Het
Ctu2 A G 8: 123,207,649 (GRCm39) E375G probably damaging Het
Dym T G 18: 75,363,236 (GRCm39) I580S probably damaging Het
Eif3e A G 15: 43,114,943 (GRCm39) L411P possibly damaging Het
Emsy T C 7: 98,239,982 (GRCm39) E1091G possibly damaging Het
Enkur A G 2: 21,194,130 (GRCm39) probably benign Het
Fam184a G A 10: 53,531,175 (GRCm39) T733M probably damaging Het
Frem2 G A 3: 53,424,278 (GRCm39) A3053V probably benign Het
Gbgt1 T C 2: 28,388,435 (GRCm39) L40P probably damaging Het
Gm5174 T A 10: 86,492,372 (GRCm39) noncoding transcript Het
Gys2 G T 6: 142,402,148 (GRCm39) D230E probably damaging Het
Herc2 T A 7: 55,818,766 (GRCm39) probably null Het
Hps3 A T 3: 20,056,527 (GRCm39) S815R probably benign Het
Igf1r C A 7: 67,851,710 (GRCm39) S983R probably damaging Het
Itsn1 T A 16: 91,650,656 (GRCm39) probably benign Het
Kcnc2 A G 10: 112,292,431 (GRCm39) N91D probably damaging Het
Kif28 C A 1: 179,560,676 (GRCm39) A210S possibly damaging Het
Klri2 T A 6: 129,717,272 (GRCm39) Q37L probably damaging Het
Lrrc38 T A 4: 143,096,419 (GRCm39) C243* probably null Het
Map3k5 T C 10: 19,943,666 (GRCm39) V590A possibly damaging Het
Mdn1 C A 4: 32,763,306 (GRCm39) F5135L probably benign Het
Megf11 G A 9: 64,567,713 (GRCm39) G401S possibly damaging Het
Mst1r T C 9: 107,785,547 (GRCm39) F402L probably damaging Het
Ntrk3 T C 7: 77,848,600 (GRCm39) I759V probably damaging Het
Or4a71 C T 2: 89,358,281 (GRCm39) V158I probably benign Het
Or8b12i T C 9: 20,082,388 (GRCm39) S160G possibly damaging Het
Prdm2 T C 4: 142,861,469 (GRCm39) N607S possibly damaging Het
Prl2a1 T A 13: 27,990,369 (GRCm39) probably null Het
Serpina9 T A 12: 103,964,523 (GRCm39) I305F probably damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc19a1 C T 10: 76,878,320 (GRCm39) T285I probably benign Het
Snap91 T C 9: 86,674,580 (GRCm39) T544A possibly damaging Het
Srgap3 A G 6: 112,923,454 (GRCm39) S2P probably damaging Het
Tcof1 A G 18: 60,970,973 (GRCm39) V210A possibly damaging Het
Tex261 A G 6: 83,748,497 (GRCm39) I136T probably benign Het
Trpa1 A T 1: 14,973,480 (GRCm39) F279L probably null Het
Ttc39b T C 4: 83,150,999 (GRCm39) N532S probably benign Het
Ttn T C 2: 76,572,438 (GRCm39) T26152A probably damaging Het
Ube2w A G 1: 16,668,183 (GRCm39) S97P possibly damaging Het
Vmn1r25 A C 6: 57,956,223 (GRCm39) L22R probably damaging Het
Vmn1r64 T C 7: 5,887,448 (GRCm39) I32V probably benign Het
Vmn2r112 T G 17: 22,820,214 (GRCm39) M29R possibly damaging Het
Vmn2r71 T A 7: 85,273,301 (GRCm39) M705K probably benign Het
Vps13b G A 15: 35,884,743 (GRCm39) V3139I probably benign Het
Zfp628 T C 7: 4,923,830 (GRCm39) V684A probably benign Het
Other mutations in Nup188
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Nup188 APN 2 30,223,412 (GRCm39) missense probably damaging 0.98
IGL01599:Nup188 APN 2 30,217,537 (GRCm39) missense possibly damaging 0.92
IGL01938:Nup188 APN 2 30,219,371 (GRCm39) missense probably benign
IGL01973:Nup188 APN 2 30,229,862 (GRCm39) missense possibly damaging 0.95
IGL02157:Nup188 APN 2 30,219,385 (GRCm39) nonsense probably null
IGL02221:Nup188 APN 2 30,220,653 (GRCm39) missense possibly damaging 0.75
IGL02277:Nup188 APN 2 30,216,523 (GRCm39) missense possibly damaging 0.95
IGL02335:Nup188 APN 2 30,213,648 (GRCm39) critical splice donor site probably null
IGL02986:Nup188 APN 2 30,197,645 (GRCm39) splice site probably null
IGL03029:Nup188 APN 2 30,212,592 (GRCm39) splice site probably benign
IGL03194:Nup188 APN 2 30,194,346 (GRCm39) missense possibly damaging 0.95
IGL03370:Nup188 APN 2 30,230,653 (GRCm39) missense possibly damaging 0.52
core UTSW 2 30,229,906 (GRCm39) missense probably damaging 1.00
kern UTSW 2 30,227,045 (GRCm39) missense possibly damaging 0.94
P0027:Nup188 UTSW 2 30,212,693 (GRCm39) missense probably damaging 0.99
R0006:Nup188 UTSW 2 30,212,035 (GRCm39) missense probably benign 0.27
R0360:Nup188 UTSW 2 30,216,491 (GRCm39) missense probably null 0.93
R0373:Nup188 UTSW 2 30,221,000 (GRCm39) missense probably damaging 1.00
R0645:Nup188 UTSW 2 30,233,478 (GRCm39) splice site probably null
R1411:Nup188 UTSW 2 30,233,807 (GRCm39) missense probably benign 0.01
R1670:Nup188 UTSW 2 30,230,667 (GRCm39) missense probably benign 0.19
R2034:Nup188 UTSW 2 30,200,097 (GRCm39) unclassified probably benign
R2113:Nup188 UTSW 2 30,194,113 (GRCm39) nonsense probably null
R2142:Nup188 UTSW 2 30,226,718 (GRCm39) missense possibly damaging 0.49
R2567:Nup188 UTSW 2 30,231,794 (GRCm39) missense possibly damaging 0.53
R2964:Nup188 UTSW 2 30,215,358 (GRCm39) missense probably damaging 0.98
R4006:Nup188 UTSW 2 30,199,890 (GRCm39) missense probably damaging 0.99
R4007:Nup188 UTSW 2 30,199,890 (GRCm39) missense probably damaging 0.99
R4079:Nup188 UTSW 2 30,199,890 (GRCm39) missense probably damaging 0.99
R4480:Nup188 UTSW 2 30,212,141 (GRCm39) intron probably benign
R4628:Nup188 UTSW 2 30,219,358 (GRCm39) missense probably damaging 1.00
R4687:Nup188 UTSW 2 30,220,645 (GRCm39) missense probably benign 0.01
R4814:Nup188 UTSW 2 30,216,523 (GRCm39) missense possibly damaging 0.95
R4834:Nup188 UTSW 2 30,229,596 (GRCm39) missense probably damaging 1.00
R5038:Nup188 UTSW 2 30,199,232 (GRCm39) missense probably damaging 0.98
R5056:Nup188 UTSW 2 30,194,143 (GRCm39) missense probably damaging 0.98
R5124:Nup188 UTSW 2 30,220,947 (GRCm39) missense probably damaging 1.00
R5256:Nup188 UTSW 2 30,220,761 (GRCm39) missense probably damaging 1.00
R5284:Nup188 UTSW 2 30,220,647 (GRCm39) missense probably damaging 1.00
R5548:Nup188 UTSW 2 30,216,505 (GRCm39) missense probably damaging 0.99
R5560:Nup188 UTSW 2 30,199,897 (GRCm39) missense probably damaging 0.99
R5668:Nup188 UTSW 2 30,226,336 (GRCm39) missense probably damaging 1.00
R5769:Nup188 UTSW 2 30,220,747 (GRCm39) missense probably benign 0.34
R5773:Nup188 UTSW 2 30,212,208 (GRCm39) missense possibly damaging 0.92
R5774:Nup188 UTSW 2 30,191,060 (GRCm39) missense probably damaging 1.00
R5827:Nup188 UTSW 2 30,229,859 (GRCm39) missense probably damaging 1.00
R5919:Nup188 UTSW 2 30,229,906 (GRCm39) missense probably damaging 1.00
R5923:Nup188 UTSW 2 30,194,102 (GRCm39) missense probably benign
R6185:Nup188 UTSW 2 30,231,722 (GRCm39) missense probably damaging 0.97
R6457:Nup188 UTSW 2 30,212,199 (GRCm39) missense probably damaging 0.98
R6529:Nup188 UTSW 2 30,216,466 (GRCm39) missense possibly damaging 0.95
R7002:Nup188 UTSW 2 30,213,580 (GRCm39) missense probably damaging 0.99
R7195:Nup188 UTSW 2 30,231,842 (GRCm39) critical splice donor site probably null
R7214:Nup188 UTSW 2 30,197,566 (GRCm39) missense possibly damaging 0.71
R7345:Nup188 UTSW 2 30,230,613 (GRCm39) missense probably benign 0.09
R7853:Nup188 UTSW 2 30,213,575 (GRCm39) missense possibly damaging 0.95
R7998:Nup188 UTSW 2 30,220,983 (GRCm39) missense probably damaging 1.00
R8012:Nup188 UTSW 2 30,227,277 (GRCm39) missense possibly damaging 0.95
R8080:Nup188 UTSW 2 30,227,045 (GRCm39) missense possibly damaging 0.94
R8804:Nup188 UTSW 2 30,220,891 (GRCm39) missense probably benign
R8850:Nup188 UTSW 2 30,217,576 (GRCm39) missense probably damaging 0.99
R9110:Nup188 UTSW 2 30,222,461 (GRCm39) missense possibly damaging 0.94
R9157:Nup188 UTSW 2 30,188,456 (GRCm39) missense probably benign 0.02
R9209:Nup188 UTSW 2 30,232,397 (GRCm39) missense probably benign 0.02
R9287:Nup188 UTSW 2 30,226,726 (GRCm39) missense probably damaging 0.99
R9325:Nup188 UTSW 2 30,212,271 (GRCm39) missense probably damaging 0.99
R9390:Nup188 UTSW 2 30,220,777 (GRCm39) critical splice donor site probably null
R9607:Nup188 UTSW 2 30,197,724 (GRCm39) missense probably benign 0.01
R9746:Nup188 UTSW 2 30,194,300 (GRCm39) missense probably damaging 0.99
R9768:Nup188 UTSW 2 30,227,045 (GRCm39) missense probably damaging 0.99
T0722:Nup188 UTSW 2 30,212,693 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TATCCTCCTACGCCAGTGGAAG -3'
(R):5'- GGGAAATAAAGCACTCCCGG -3'

Sequencing Primer
(F):5'- CCTACGCCAGTGGAAGAGGTG -3'
(R):5'- TCCCGGTGTAAAAATCCCACGG -3'
Posted On 2014-10-15