Incidental Mutation 'R9136:Nup210'
ID 694016
Institutional Source Beutler Lab
Gene Symbol Nup210
Ensembl Gene ENSMUSG00000030091
Gene Name nucleoporin 210
Synonyms gp190, gp210, Pom210
MMRRC Submission 068931-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9136 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 90990050-91093811 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91020830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 955 (T955A)
Ref Sequence ENSEMBL: ENSMUSP00000032179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032179] [ENSMUST00000113509] [ENSMUST00000142951]
AlphaFold Q9QY81
Predicted Effect possibly damaging
Transcript: ENSMUST00000032179
AA Change: T955A

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032179
Gene: ENSMUSG00000030091
AA Change: T955A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Blast:BID_2 450 527 3e-29 BLAST
low complexity region 850 862 N/A INTRINSIC
Blast:S1 937 1022 6e-37 BLAST
BID_2 1077 1152 8.36e-6 SMART
low complexity region 1159 1168 N/A INTRINSIC
Blast:BID_2 1468 1551 3e-35 BLAST
transmembrane domain 1809 1831 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113509
AA Change: T911A

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109137
Gene: ENSMUSG00000030091
AA Change: T911A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Blast:BID_2 450 527 4e-29 BLAST
low complexity region 806 818 N/A INTRINSIC
Blast:S1 893 978 4e-37 BLAST
BID_2 1033 1108 8.36e-6 SMART
low complexity region 1115 1124 N/A INTRINSIC
Blast:BID_2 1424 1507 3e-35 BLAST
transmembrane domain 1765 1787 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000142951
AA Change: T168A

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000120098
Gene: ENSMUSG00000030091
AA Change: T168A

DomainStartEndE-ValueType
low complexity region 63 75 N/A INTRINSIC
Blast:S1 150 235 3e-37 BLAST
BID_2 290 365 8.36e-6 SMART
low complexity region 372 381 N/A INTRINSIC
Blast:BID_2 681 764 1e-35 BLAST
transmembrane domain 1022 1044 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
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 membrane-spanning glycoprotein that is a major component of the nuclear pore complex. Multiple pseudogenes related to this gene are located on chromosome 3. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A G 17: 24,596,807 (GRCm39) Q420R probably benign Het
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Acsl5 A T 19: 55,266,400 (GRCm39) K109N probably benign Het
Agpat3 T C 10: 78,120,893 (GRCm39) N95S probably damaging Het
Akna C T 4: 63,310,392 (GRCm39) D451N probably damaging Het
Ankrd17 A T 5: 90,392,278 (GRCm39) D1797E probably damaging Het
Ano2 A G 6: 125,959,962 (GRCm39) N691S probably damaging Het
Arrdc1 A T 2: 24,817,193 (GRCm39) probably benign Het
Ccdc63 G A 5: 122,259,146 (GRCm39) R251W probably damaging Het
Cd70 T C 17: 57,453,152 (GRCm39) T171A possibly damaging Het
Cenpf A T 1: 189,403,352 (GRCm39) S382T probably benign Het
Cox5b-ps A C 13: 21,685,587 (GRCm39) M1R probably null Het
Ddx19b G T 8: 111,734,906 (GRCm39) D487E probably benign Het
Dlgap4 G A 2: 156,588,075 (GRCm39) E640K possibly damaging Het
Dtnbp1 A T 13: 45,084,546 (GRCm39) F198Y possibly damaging Het
Epha10 T C 4: 124,796,427 (GRCm39) Y379H Het
Eral1 A G 11: 77,964,960 (GRCm39) I411T Het
Exd1 C T 2: 119,359,385 (GRCm39) G193E probably damaging Het
Fat3 C A 9: 15,833,738 (GRCm39) A105S Het
Fbp2 C T 13: 63,002,840 (GRCm39) V71M possibly damaging Het
Gm10801 C CGTA 2: 98,494,152 (GRCm39) probably null Het
Grm5 G A 7: 87,689,254 (GRCm39) V542I possibly damaging Het
Hdc C T 2: 126,439,786 (GRCm39) probably null Het
Hspe1 G T 1: 55,128,314 (GRCm39) K36N probably damaging Het
Hypk T A 2: 121,287,636 (GRCm39) L17* probably null Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Immt C T 6: 71,851,403 (GRCm39) T588I probably damaging Het
Kat2b T A 17: 53,936,364 (GRCm39) S179T probably benign Het
Krtap19-5 C T 16: 88,693,246 (GRCm39) G22D unknown Het
Lipk A G 19: 33,999,830 (GRCm39) D153G probably damaging Het
Lnpep A G 17: 17,750,090 (GRCm39) V1000A probably benign Het
Map3k7cl T C 16: 87,391,227 (GRCm39) L117P probably damaging Het
Meikin A G 11: 54,285,464 (GRCm39) E167G possibly damaging Het
Miox A G 15: 89,220,740 (GRCm39) Y215C probably damaging Het
Mthfd1 T G 12: 76,350,649 (GRCm39) M677R probably damaging Het
Ncoa7 G A 10: 30,567,628 (GRCm39) S350L probably benign Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nrg3 A T 14: 38,119,262 (GRCm39) N403K possibly damaging Het
Odf2l C A 3: 144,851,698 (GRCm39) T82K Het
Or10ag56 A G 2: 87,139,219 (GRCm39) I49V possibly damaging Het
Or1m1 T C 9: 18,666,175 (GRCm39) Y252C probably damaging Het
Or4c108 T A 2: 88,804,113 (GRCm39) M41L probably benign Het
Or8w1 A G 2: 87,465,341 (GRCm39) V250A probably benign Het
Otud7b T A 3: 96,059,815 (GRCm39) probably benign Het
Pcm1 C T 8: 41,732,825 (GRCm39) S694L probably benign Het
Pex11b T C 3: 96,551,259 (GRCm39) L248P probably damaging Het
Pira13 A T 7: 3,826,285 (GRCm39) I236N Het
Ppp3cb T C 14: 20,581,867 (GRCm39) I49M probably benign Het
Prorp C T 12: 55,350,727 (GRCm39) P12L probably benign Het
Prr14l A C 5: 32,986,080 (GRCm39) C1138W Het
Prss1 T G 6: 41,438,280 (GRCm39) probably benign Het
Psg22 T A 7: 18,460,811 (GRCm39) I480K probably damaging Het
Rgs21 A C 1: 144,412,653 (GRCm39) F57C Het
Rngtt T A 4: 33,404,218 (GRCm39) D468E probably damaging Het
Rorb A T 19: 18,934,686 (GRCm39) V313E probably damaging Het
Sdk2 A G 11: 113,697,203 (GRCm39) F1736S probably damaging Het
Sertad2 A T 11: 20,598,425 (GRCm39) E207V probably benign Het
Slitrk1 T C 14: 109,148,981 (GRCm39) I577V Het
Sos2 C A 12: 69,633,446 (GRCm39) E1143D possibly damaging Het
Spen T C 4: 141,249,623 (GRCm39) D55G unknown Het
Stoml1 C A 9: 58,168,236 (GRCm39) Q316K possibly damaging Het
Synpo2l C T 14: 20,715,857 (GRCm39) A243T probably damaging Het
Tenm4 A T 7: 96,473,125 (GRCm39) I974F possibly damaging Het
Trp53bp1 T A 2: 121,067,092 (GRCm39) I545F possibly damaging Het
Unc13a T C 8: 72,104,994 (GRCm39) D756G possibly damaging Het
Uqcrc1 A G 9: 108,776,973 (GRCm39) N393D possibly damaging Het
Vcl T A 14: 21,057,344 (GRCm39) D505E probably benign Het
Vwf A T 6: 125,576,356 (GRCm39) probably benign Het
Wdr11 A G 7: 129,204,816 (GRCm39) H207R Het
Zc3h7b A G 15: 81,653,312 (GRCm39) D72G probably damaging Het
Zfp507 A T 7: 35,475,883 (GRCm39) D813E probably damaging Het
Zfp704 T C 3: 9,509,324 (GRCm39) S374G probably benign Het
Zfp97 G A 17: 17,365,215 (GRCm39) C238Y probably benign Het
Other mutations in Nup210
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Nup210 APN 6 91,007,079 (GRCm39) missense possibly damaging 0.92
IGL01532:Nup210 APN 6 91,062,981 (GRCm39) splice site probably benign
IGL01574:Nup210 APN 6 91,017,546 (GRCm39) missense probably benign 0.35
IGL01621:Nup210 APN 6 91,007,099 (GRCm39) missense probably damaging 1.00
IGL01976:Nup210 APN 6 91,030,596 (GRCm39) missense possibly damaging 0.89
IGL02089:Nup210 APN 6 91,053,680 (GRCm39) missense probably benign 0.04
IGL02291:Nup210 APN 6 91,078,250 (GRCm39) missense probably damaging 1.00
IGL03013:Nup210 APN 6 91,030,361 (GRCm39) missense probably benign 0.00
IGL03046:Nup210 APN 6 90,995,978 (GRCm39) splice site probably benign
IGL03136:Nup210 APN 6 91,005,843 (GRCm39) missense probably benign 0.32
IGL03139:Nup210 APN 6 90,997,221 (GRCm39) missense probably benign 0.08
IGL03195:Nup210 APN 6 90,992,832 (GRCm39) missense probably benign 0.32
IGL03344:Nup210 APN 6 90,998,411 (GRCm39) missense possibly damaging 0.53
brotherhood UTSW 6 91,013,451 (GRCm39) missense possibly damaging 0.81
equality UTSW 6 90,998,377 (GRCm39) critical splice donor site probably null
fraternity UTSW 6 91,019,235 (GRCm39) critical splice donor site probably null
Liberty UTSW 6 90,997,162 (GRCm39) missense probably benign 0.04
napoleonic UTSW 6 91,030,434 (GRCm39) missense probably damaging 1.00
unity UTSW 6 91,008,650 (GRCm39) nonsense probably null
IGL03134:Nup210 UTSW 6 91,007,172 (GRCm39) missense probably damaging 0.99
PIT4810001:Nup210 UTSW 6 91,007,106 (GRCm39) missense probably damaging 1.00
R0100:Nup210 UTSW 6 91,046,175 (GRCm39) missense probably benign 0.04
R0348:Nup210 UTSW 6 91,051,292 (GRCm39) missense probably benign 0.27
R0385:Nup210 UTSW 6 91,005,777 (GRCm39) missense possibly damaging 0.77
R0551:Nup210 UTSW 6 90,998,466 (GRCm39) missense possibly damaging 0.85
R0606:Nup210 UTSW 6 91,003,911 (GRCm39) missense possibly damaging 0.89
R1053:Nup210 UTSW 6 91,005,793 (GRCm39) missense probably benign 0.41
R1301:Nup210 UTSW 6 91,019,329 (GRCm39) missense possibly damaging 0.47
R1381:Nup210 UTSW 6 91,052,942 (GRCm39) missense probably damaging 0.99
R1464:Nup210 UTSW 6 91,030,551 (GRCm39) missense possibly damaging 0.82
R1464:Nup210 UTSW 6 91,030,551 (GRCm39) missense possibly damaging 0.82
R1487:Nup210 UTSW 6 91,019,558 (GRCm39) missense probably damaging 1.00
R1522:Nup210 UTSW 6 91,046,148 (GRCm39) missense possibly damaging 0.85
R1529:Nup210 UTSW 6 91,013,358 (GRCm39) missense probably damaging 1.00
R1531:Nup210 UTSW 6 91,011,823 (GRCm39) missense probably benign 0.05
R1668:Nup210 UTSW 6 91,005,787 (GRCm39) missense possibly damaging 0.89
R1694:Nup210 UTSW 6 91,039,785 (GRCm39) missense probably benign 0.09
R1803:Nup210 UTSW 6 91,051,264 (GRCm39) missense probably damaging 0.99
R1851:Nup210 UTSW 6 90,993,036 (GRCm39) missense probably damaging 1.00
R2145:Nup210 UTSW 6 91,005,858 (GRCm39) missense possibly damaging 0.81
R2196:Nup210 UTSW 6 91,032,226 (GRCm39) missense probably benign 0.02
R2308:Nup210 UTSW 6 91,017,850 (GRCm39) missense probably benign 0.19
R2419:Nup210 UTSW 6 90,994,538 (GRCm39) splice site probably benign
R2912:Nup210 UTSW 6 91,003,956 (GRCm39) missense probably damaging 1.00
R3413:Nup210 UTSW 6 91,002,224 (GRCm39) missense probably benign 0.00
R3718:Nup210 UTSW 6 90,997,162 (GRCm39) missense probably benign 0.04
R3753:Nup210 UTSW 6 90,998,377 (GRCm39) critical splice donor site probably null
R4058:Nup210 UTSW 6 91,037,602 (GRCm39) missense probably benign 0.02
R4840:Nup210 UTSW 6 91,008,650 (GRCm39) nonsense probably null
R4912:Nup210 UTSW 6 90,994,511 (GRCm39) missense probably benign 0.01
R4967:Nup210 UTSW 6 91,013,451 (GRCm39) missense possibly damaging 0.81
R4996:Nup210 UTSW 6 91,030,418 (GRCm39) missense probably benign 0.16
R5074:Nup210 UTSW 6 91,032,309 (GRCm39) missense probably benign 0.16
R5233:Nup210 UTSW 6 91,003,951 (GRCm39) missense probably damaging 1.00
R5352:Nup210 UTSW 6 91,046,298 (GRCm39) missense probably damaging 1.00
R5490:Nup210 UTSW 6 91,062,970 (GRCm39) missense probably damaging 0.98
R5511:Nup210 UTSW 6 91,003,945 (GRCm39) missense probably damaging 0.97
R5773:Nup210 UTSW 6 91,062,865 (GRCm39) missense probably damaging 0.96
R6064:Nup210 UTSW 6 91,032,273 (GRCm39) missense probably benign 0.01
R6209:Nup210 UTSW 6 91,002,337 (GRCm39) missense probably benign
R6299:Nup210 UTSW 6 91,051,270 (GRCm39) missense possibly damaging 0.68
R6705:Nup210 UTSW 6 91,064,942 (GRCm39) missense possibly damaging 0.50
R6855:Nup210 UTSW 6 91,017,835 (GRCm39) missense probably benign 0.13
R6856:Nup210 UTSW 6 91,064,895 (GRCm39) nonsense probably null
R6911:Nup210 UTSW 6 91,007,112 (GRCm39) missense probably damaging 0.98
R6955:Nup210 UTSW 6 91,064,909 (GRCm39) missense probably damaging 1.00
R7045:Nup210 UTSW 6 91,031,433 (GRCm39) missense probably damaging 1.00
R7081:Nup210 UTSW 6 91,037,647 (GRCm39) missense possibly damaging 0.50
R7163:Nup210 UTSW 6 91,050,313 (GRCm39) missense probably damaging 1.00
R7305:Nup210 UTSW 6 91,064,948 (GRCm39) missense probably damaging 1.00
R7387:Nup210 UTSW 6 90,998,378 (GRCm39) critical splice donor site probably null
R7404:Nup210 UTSW 6 91,050,227 (GRCm39) missense probably benign 0.01
R7469:Nup210 UTSW 6 90,995,874 (GRCm39) missense probably benign 0.08
R7603:Nup210 UTSW 6 91,053,679 (GRCm39) missense probably benign 0.00
R7731:Nup210 UTSW 6 91,048,870 (GRCm39) missense possibly damaging 0.50
R7822:Nup210 UTSW 6 90,995,759 (GRCm39) missense possibly damaging 0.71
R7944:Nup210 UTSW 6 91,050,179 (GRCm39) missense probably damaging 0.99
R8032:Nup210 UTSW 6 91,051,331 (GRCm39) missense probably benign 0.02
R8039:Nup210 UTSW 6 91,047,215 (GRCm39) missense probably benign 0.09
R8081:Nup210 UTSW 6 91,053,657 (GRCm39) missense probably benign 0.00
R8177:Nup210 UTSW 6 90,991,470 (GRCm39) missense probably benign
R8331:Nup210 UTSW 6 91,030,648 (GRCm39) missense possibly damaging 0.49
R8356:Nup210 UTSW 6 91,051,330 (GRCm39) missense probably benign 0.32
R8530:Nup210 UTSW 6 91,053,627 (GRCm39) missense possibly damaging 0.51
R8896:Nup210 UTSW 6 91,019,235 (GRCm39) critical splice donor site probably null
R8926:Nup210 UTSW 6 91,030,434 (GRCm39) missense probably damaging 1.00
R9093:Nup210 UTSW 6 91,066,872 (GRCm39) missense probably benign 0.16
R9130:Nup210 UTSW 6 91,020,799 (GRCm39) missense probably benign 0.08
R9260:Nup210 UTSW 6 91,039,785 (GRCm39) missense probably benign 0.09
R9292:Nup210 UTSW 6 91,051,235 (GRCm39) missense possibly damaging 0.81
R9444:Nup210 UTSW 6 91,048,885 (GRCm39) missense probably benign
R9482:Nup210 UTSW 6 91,019,608 (GRCm39) missense probably damaging 0.96
R9506:Nup210 UTSW 6 91,048,856 (GRCm39) missense possibly damaging 0.92
R9621:Nup210 UTSW 6 90,994,375 (GRCm39) missense probably benign 0.18
R9735:Nup210 UTSW 6 91,030,630 (GRCm39) missense probably benign 0.42
X0067:Nup210 UTSW 6 91,051,262 (GRCm39) missense probably damaging 1.00
Z1177:Nup210 UTSW 6 91,064,889 (GRCm39) missense possibly damaging 0.91
Z1177:Nup210 UTSW 6 90,997,167 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCTCCCAGGATACACTGTC -3'
(R):5'- AGGTGAATGCTACATGGAGTCC -3'

Sequencing Primer
(F):5'- AGGATACACTGTCCCTGCTTTATGTG -3'
(R):5'- GAGTAATACCCTCTGCAGTGCATG -3'
Posted On 2022-01-20