Incidental Mutation 'R2142:Nup188'
ID 236328
Institutional Source Beutler Lab
Gene Symbol Nup188
Ensembl Gene ENSMUSG00000052533
Gene Name nucleoporin 188
Synonyms
MMRRC Submission 040145-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # R2142 (G1)
Quality Score 203
Status Not validated
Chromosome 2
Chromosomal Location 30176419-30234278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30226718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1165 (I1165N)
Ref Sequence ENSEMBL: ENSMUSP00000065836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064447]
AlphaFold Q6ZQH8
Predicted Effect possibly damaging
Transcript: ENSMUST00000064447
AA Change: I1165N

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533
AA Change: I1165N

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: 97.4%
  • 20x: 95.2%
Validation Efficiency
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: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab T A 9: 63,523,957 (GRCm39) probably null Het
Adgrb3 G T 1: 25,107,290 (GRCm39) P640T probably damaging Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Afdn A G 17: 14,030,695 (GRCm39) E202G probably damaging Het
Alkbh2 C T 5: 114,263,777 (GRCm39) V77I probably benign Het
Angpt2 T C 8: 18,764,156 (GRCm39) T129A probably benign Het
Atp6v0a4 T A 6: 38,059,871 (GRCm39) K236* probably null Het
Baz1b G A 5: 135,246,129 (GRCm39) R526H probably damaging Het
Bltp3b A G 10: 89,647,910 (GRCm39) D207G probably damaging Het
Bscl2 T C 19: 8,822,684 (GRCm39) probably null Het
Btnl9 G T 11: 49,061,453 (GRCm39) probably null Het
Cd55 C T 1: 130,377,160 (GRCm39) V333I probably benign Het
Cdh8 C A 8: 99,838,325 (GRCm39) C505F probably damaging Het
Cep112 A G 11: 108,497,151 (GRCm39) E697G probably damaging Het
Ces1c T A 8: 93,857,468 (GRCm39) I38F probably benign Het
Cfhr2 T G 1: 139,758,893 (GRCm39) R52S probably benign Het
Clcn6 A G 4: 148,108,594 (GRCm39) F145S possibly damaging Het
Cnksr1 A G 4: 133,956,939 (GRCm39) Y488H probably damaging Het
Cntrl CAGAG CAG 2: 35,012,818 (GRCm39) probably null Het
Col25a1 A G 3: 130,363,965 (GRCm39) H546R probably damaging Het
Crot A T 5: 9,037,780 (GRCm39) Y179N possibly damaging Het
Dck T C 5: 88,920,582 (GRCm39) C101R probably damaging Het
Ddb1 T C 19: 10,596,490 (GRCm39) probably null Het
Dnah7b T A 1: 46,307,830 (GRCm39) M3048K probably damaging Het
Dsel T C 1: 111,787,187 (GRCm39) N1116S probably benign Het
Efnb1 A G X: 98,191,123 (GRCm39) Y343C probably damaging Het
Elf2 A G 3: 51,163,861 (GRCm39) V496A probably damaging Het
Esco1 A G 18: 10,574,873 (GRCm39) probably null Het
Fbn1 T G 2: 125,254,628 (GRCm39) T212P possibly damaging Het
Fuca2 A G 10: 13,381,609 (GRCm39) Y174C probably damaging Het
Gabarap C T 11: 69,882,515 (GRCm39) probably benign Het
Gdf2 A G 14: 33,667,198 (GRCm39) T307A probably benign Het
Gemin4 G C 11: 76,101,876 (GRCm39) P962A probably damaging Het
Glyatl3 T C 17: 41,221,975 (GRCm39) D93G probably benign Het
Gm266 C T 12: 111,451,615 (GRCm39) R197K possibly damaging Het
Gns G A 10: 121,228,683 (GRCm39) R498H probably damaging Het
Gprasp1 G A X: 134,702,791 (GRCm39) E995K possibly damaging Het
Grk6 T C 13: 55,602,177 (GRCm39) W335R probably damaging Het
Helz2 T C 2: 180,873,173 (GRCm39) E2379G probably benign Het
Hmx2 A T 7: 131,157,588 (GRCm39) D234V probably damaging Het
Ift20 G A 11: 78,430,860 (GRCm39) E68K probably damaging Het
Ipo9 CCT CCTTCT 1: 135,314,020 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 TCC TCCGCC 1: 135,314,013 (GRCm39) probably benign Het
Itpkc A G 7: 26,919,075 (GRCm39) V397A possibly damaging Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kat5 T A 19: 5,655,713 (GRCm39) probably null Het
Kctd16 A G 18: 40,392,231 (GRCm39) E273G possibly damaging Het
Kdr T C 5: 76,129,083 (GRCm39) T188A possibly damaging Het
Kif18a T A 2: 109,163,848 (GRCm39) N732K probably benign Het
Laptm4b G T 15: 34,238,478 (GRCm39) M3I probably benign Het
Macf1 C T 4: 123,248,895 (GRCm39) C7210Y probably damaging Het
Man1a T C 10: 53,811,094 (GRCm39) N338S probably damaging Het
Mical3 A T 6: 121,008,095 (GRCm39) probably null Het
Micall1 T C 15: 79,014,995 (GRCm39) Y751H probably damaging Het
Mki67 A G 7: 135,297,321 (GRCm39) I2571T possibly damaging Het
Mx2 G A 16: 97,339,903 (GRCm39) E20K probably benign Het
Myh2 A G 11: 67,080,158 (GRCm39) E1124G probably damaging Het
Myo10 A G 15: 25,714,194 (GRCm39) E87G probably benign Het
Nat10 T C 2: 103,561,648 (GRCm39) probably null Het
Nipa1 C A 7: 55,647,259 (GRCm39) probably null Het
Nrbp1 A G 5: 31,405,273 (GRCm39) E287G possibly damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Or14j4 T G 17: 37,921,362 (GRCm39) E93D probably benign Het
Or2y13 A G 11: 49,414,666 (GRCm39) I39V probably benign Het
Or4a68 C T 2: 89,269,927 (GRCm39) R232H probably benign Het
Or4k48 C A 2: 111,475,566 (GRCm39) V259L probably benign Het
Or51a10 C T 7: 103,699,507 (GRCm39) G18D probably damaging Het
Or6c1b A G 10: 129,273,616 (GRCm39) K312E probably benign Het
Or9g3 C T 2: 85,590,021 (GRCm39) R233H probably benign Het
Panx3 G C 9: 37,577,969 (GRCm39) S87W probably damaging Het
Parp8 T A 13: 117,031,422 (GRCm39) D430V probably benign Het
Pcdhb11 A G 18: 37,555,176 (GRCm39) N169D probably benign Het
Pdzd2 C A 15: 12,406,645 (GRCm39) G605V probably damaging Het
Phkg2 G A 7: 127,181,386 (GRCm39) probably null Het
Pkhd1 T A 1: 20,594,119 (GRCm39) K1331N probably benign Het
Plcb4 G A 2: 135,818,019 (GRCm39) V762M probably damaging Het
Plec T C 15: 76,067,374 (GRCm39) T1331A probably benign Het
Pot1a T C 6: 25,750,043 (GRCm39) probably null Het
Prb1a T A 6: 132,184,166 (GRCm39) Q489L unknown Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Psme4 A G 11: 30,770,998 (GRCm39) Y782C possibly damaging Het
Rab11fip5 T C 6: 85,314,210 (GRCm39) probably null Het
Ren1 C G 1: 133,278,516 (GRCm39) probably null Het
Rit2 A G 18: 31,286,766 (GRCm39) F140L probably benign Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Rorc G A 3: 94,296,833 (GRCm39) R271Q probably benign Het
Sall3 A T 18: 81,013,046 (GRCm39) M1130K probably damaging Het
Sart3 T C 5: 113,902,154 (GRCm39) E141G probably damaging Het
Serpina9 T C 12: 103,974,568 (GRCm39) D195G probably benign Het
Slitrk6 T G 14: 110,988,226 (GRCm39) T494P probably benign Het
Tars3 A T 7: 65,308,645 (GRCm39) I272L probably benign Het
Tas2r115 T C 6: 132,714,321 (GRCm39) K210R probably benign Het
Tdpoz3 C T 3: 93,734,206 (GRCm39) H294Y probably benign Het
Tesl1 T A X: 23,773,549 (GRCm39) V350E probably benign Het
Tigd4 A G 3: 84,501,670 (GRCm39) T196A possibly damaging Het
Treh G A 9: 44,592,438 (GRCm39) M54I probably damaging Het
Ttn C T 2: 76,643,683 (GRCm39) G11436R probably damaging Het
Ubap1 C T 4: 41,379,257 (GRCm39) A157V probably damaging Het
Ubr4 C T 4: 139,204,518 (GRCm39) T4810M probably damaging Het
Xrcc6 T A 15: 81,907,178 (GRCm39) F167I probably damaging Het
Zfp281 GCGGCAGCTCCGGCAGC GCGGCAGCTCCGGCAGCTCCGGCAGC 1: 136,553,091 (GRCm39) probably benign Het
Zfp473 T C 7: 44,382,501 (GRCm39) T610A possibly damaging Het
Zfp606 T C 7: 12,213,653 (GRCm39) I4T probably damaging Het
Zfp638 T A 6: 83,963,578 (GRCm39) N1918K probably damaging Het
Zfp65 G T 13: 67,856,311 (GRCm39) H333N probably damaging 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
R2221:Nup188 UTSW 2 30,226,936 (GRCm39) splice site probably benign
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'- CTCAGTGATAAAGAGGTGCCC -3'
(R):5'- AGCATGCCTCACTCAGTGTC -3'

Sequencing Primer
(F):5'- CTCCTTGCTCCTGGGAGAAGTC -3'
(R):5'- ACTCAGTGTCCCCAGTGC -3'
Posted On 2014-10-01