Incidental Mutation 'R6529:Nup188'
ID 522153
Institutional Source Beutler Lab
Gene Symbol Nup188
Ensembl Gene ENSMUSG00000052533
Gene Name nucleoporin 188
Synonyms
MMRRC Submission 044655-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # R6529 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 30176419-30234278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30216466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 757 (T757S)
Ref Sequence ENSEMBL: ENSMUSP00000065836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064447]
AlphaFold Q6ZQH8
Predicted Effect possibly damaging
Transcript: ENSMUST00000064447
AA Change: T757S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533
AA Change: T757S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141035
Meta Mutation Damage Score 0.0732 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
Validation Efficiency 98% (41/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A T 7: 78,739,479 (GRCm39) M296L probably benign Het
Atxn2 T C 5: 121,949,677 (GRCm39) probably null Het
B3galnt2 G T 13: 14,170,377 (GRCm39) R242S probably benign Het
Bltp3a A G 17: 28,098,750 (GRCm39) I218M possibly damaging Het
Casz1 G A 4: 149,022,646 (GRCm39) E571K probably damaging Het
Ccdc163 A G 4: 116,566,121 (GRCm39) probably null Het
Cd109 A G 9: 78,619,907 (GRCm39) D1383G probably damaging Het
Cd200r1 A G 16: 44,610,065 (GRCm39) T95A possibly damaging Het
Chd2 T C 7: 73,153,191 (GRCm39) E219G possibly damaging Het
Cibar1 A G 4: 12,168,978 (GRCm39) V175A probably damaging Het
Dnah14 T A 1: 181,494,034 (GRCm39) V1730D probably damaging Het
Eps8 G A 6: 137,491,335 (GRCm39) H348Y possibly damaging Het
Fbxo2 A T 4: 148,249,511 (GRCm39) D187V probably damaging Het
Fsip2 A T 2: 82,812,657 (GRCm39) Y2992F probably benign Het
Gle1 A T 2: 29,825,539 (GRCm39) T10S possibly damaging Het
Got2 T C 8: 96,615,013 (GRCm39) probably benign Het
Gtf3c6 T C 10: 40,127,251 (GRCm39) T34A probably benign Het
H4c11 G T 13: 21,919,476 (GRCm39) V71F possibly damaging Het
Klf15 C T 6: 90,444,394 (GRCm39) T323I probably damaging Het
Krtap5-3 C A 7: 141,756,079 (GRCm39) C305* probably null Het
Map2k6 A T 11: 110,383,388 (GRCm39) D99V probably damaging Het
Nckap5l G T 15: 99,324,475 (GRCm39) P676Q probably benign Het
Or10ak13 C T 4: 118,638,907 (GRCm39) V292I probably benign Het
Or51q1c T C 7: 103,653,133 (GRCm39) V217A probably benign Het
Peg3 C A 7: 6,711,071 (GRCm39) A1384S probably damaging Het
Plekho2 C T 9: 65,480,383 (GRCm39) R14H probably benign Het
Qsox2 A T 2: 26,107,753 (GRCm39) C247S probably damaging Het
Slc25a13 A G 6: 6,073,451 (GRCm39) V469A probably benign Het
Slitrk3 T C 3: 72,958,551 (GRCm39) T74A probably benign Het
Spmip7 T C 11: 11,465,009 (GRCm39) F120S possibly damaging Het
Sult1a1 T C 7: 126,274,310 (GRCm39) T91A probably benign Het
Sult3a2 T C 10: 33,655,733 (GRCm39) Y82C probably damaging Het
Taf1b A T 12: 24,606,650 (GRCm39) H490L possibly damaging Het
Trrap T A 5: 144,771,014 (GRCm39) H2804Q probably benign Het
Usp8 A G 2: 126,567,298 (GRCm39) I106V probably benign Het
Wdcp T A 12: 4,901,143 (GRCm39) V333D probably damaging Het
Wdr46 T A 17: 34,168,120 (GRCm39) L564Q possibly damaging Het
Wrn T C 8: 33,826,004 (GRCm39) probably null Het
Zfp664 C T 5: 124,963,352 (GRCm39) H249Y probably damaging Het
Zfp975 A C 7: 42,311,325 (GRCm39) H429Q possibly 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
R2142:Nup188 UTSW 2 30,226,718 (GRCm39) missense possibly damaging 0.49
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
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'- ACCTTTAGCAAGTCAGTACAGG -3'
(R):5'- ATGGGGTCTGAAGGTCAACG -3'

Sequencing Primer
(F):5'- TAGCAAGTCAGTACAGGTTCTAGAC -3'
(R):5'- GTCAACGGGATGGGCAC -3'
Posted On 2018-06-06