Incidental Mutation 'R0606:Nup210'
ID 54145
Institutional Source Beutler Lab
Gene Symbol Nup210
Ensembl Gene ENSMUSG00000030091
Gene Name nucleoporin 210
Synonyms gp190, gp210, Pom210
MMRRC Submission 038795-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0606 (G1)
Quality Score 170
Status Validated
Chromosome 6
Chromosomal Location 90990050-91093811 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91003911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1402 (I1402N)
Ref Sequence ENSEMBL: ENSMUSP00000109137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032179] [ENSMUST00000113509] [ENSMUST00000142951]
AlphaFold Q9QY81
Predicted Effect possibly damaging
Transcript: ENSMUST00000032179
AA Change: I1446N

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032179
Gene: ENSMUSG00000030091
AA Change: I1446N

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: I1402N

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109137
Gene: ENSMUSG00000030091
AA Change: I1402N

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 noncoding transcript
Transcript: ENSMUST00000141952
Predicted Effect possibly damaging
Transcript: ENSMUST00000142951
AA Change: I659N

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120098
Gene: ENSMUSG00000030091
AA Change: I659N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148397
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153350
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.2%
Validation Efficiency 98% (99/101)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 T C 17: 33,652,572 (GRCm39) Y211H probably damaging Het
Actn1 A T 12: 80,221,421 (GRCm39) probably benign Het
Adtrp A G 13: 41,920,881 (GRCm39) F197L probably damaging Het
Ankrd11 G A 8: 123,619,571 (GRCm39) T1406I probably benign Het
Arhgap24 A T 5: 103,045,086 (GRCm39) R620W probably damaging Het
Atg13 A G 2: 91,512,418 (GRCm39) Y284H probably benign Het
Atrn A G 2: 130,748,776 (GRCm39) E99G possibly damaging Het
Cage1 A T 13: 38,200,470 (GRCm39) probably benign Het
Cblif A T 19: 11,729,658 (GRCm39) I206F possibly damaging Het
Ccr3 T A 9: 123,828,839 (GRCm39) M58K probably benign Het
Cdk18 G T 1: 132,045,355 (GRCm39) probably benign Het
Chst5 A G 8: 112,617,551 (GRCm39) V23A probably benign Het
Col4a3 T C 1: 82,650,307 (GRCm39) probably benign Het
Col4a6 A G X: 139,975,219 (GRCm39) probably benign Het
Csmd3 T C 15: 48,321,058 (GRCm39) I251V probably benign Het
Csnk1g3 G A 18: 54,050,100 (GRCm39) V115M probably damaging Het
Cst7 A T 2: 150,412,439 (GRCm39) M1L probably benign Het
Cyp4f17 A T 17: 32,746,817 (GRCm39) D373V probably damaging Het
Dclk2 G A 3: 86,813,311 (GRCm39) R212W probably damaging Het
Dhrs7b T G 11: 60,721,572 (GRCm39) probably benign Het
Dhx58 T A 11: 100,593,077 (GRCm39) H210L probably benign Het
Dnah9 T C 11: 65,732,159 (GRCm39) Y4249C probably damaging Het
Eif5b T A 1: 38,087,974 (GRCm39) L990H probably damaging Het
Faap24 T C 7: 35,094,388 (GRCm39) probably benign Het
Fryl T A 5: 73,282,077 (GRCm39) H174L probably benign Het
Gabrr1 T C 4: 33,132,696 (GRCm39) W15R probably benign Het
Gm15446 T C 5: 110,091,347 (GRCm39) V533A probably benign Het
Gm6760 T A X: 63,195,259 (GRCm39) K63* probably null Het
Gne C T 4: 44,042,244 (GRCm39) E444K possibly damaging Het
Gpr173 T A X: 151,130,036 (GRCm39) M146L possibly damaging Het
Hira C T 16: 18,753,797 (GRCm39) S547L probably benign Het
Hnf1b A G 11: 83,754,810 (GRCm39) H161R probably benign Het
Hnrnpm T A 17: 33,877,364 (GRCm39) N53I probably damaging Het
Hs3st5 A T 10: 36,708,584 (GRCm39) I40F probably benign Het
Hydin C T 8: 111,276,430 (GRCm39) probably benign Het
Ift172 A G 5: 31,411,657 (GRCm39) I1607T probably damaging Het
Igfn1 T C 1: 135,887,639 (GRCm39) Q2475R probably damaging Het
Il6st T C 13: 112,640,806 (GRCm39) S800P possibly damaging Het
Iqub G A 6: 24,501,260 (GRCm39) probably benign Het
Itgb1 A T 8: 129,448,853 (GRCm39) probably benign Het
Kctd21 G A 7: 96,996,808 (GRCm39) E94K probably benign Het
Kir3dl2 A G X: 135,354,260 (GRCm39) V233A possibly damaging Het
Klra2 A T 6: 131,197,187 (GRCm39) C271S probably damaging Het
Lacc1 A T 14: 77,267,061 (GRCm39) C401S probably damaging Het
Lmna T C 3: 88,389,885 (GRCm39) E580G probably damaging Het
Matn2 A G 15: 34,345,296 (GRCm39) Y101C probably damaging Het
Mrps16 G A 14: 20,441,457 (GRCm39) R116* probably null Het
Ndrg2 G T 14: 52,143,674 (GRCm39) R333S probably damaging Het
Nf2 A G 11: 4,732,194 (GRCm39) I507T possibly damaging Het
Nktr A G 9: 121,578,356 (GRCm39) probably benign Het
Nkx3-1 G A 14: 69,428,455 (GRCm39) probably benign Het
Npat T C 9: 53,467,781 (GRCm39) probably null Het
Nrxn1 T C 17: 90,872,801 (GRCm39) N1047S probably damaging Het
Or5d40 G T 2: 88,015,624 (GRCm39) M134I possibly damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pdcl2 C T 5: 76,460,328 (GRCm39) S182N probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pla2g4a A G 1: 149,716,455 (GRCm39) F669L probably benign Het
Plekha8 A G 6: 54,606,805 (GRCm39) K367E probably damaging Het
Pola1 A G X: 92,531,693 (GRCm39) probably benign Het
Ppm1d C T 11: 85,236,703 (GRCm39) T494I probably benign Het
Pramel16 T A 4: 143,676,453 (GRCm39) Y217F probably benign Het
Prl6a1 A T 13: 27,498,177 (GRCm39) probably benign Het
Ptprg T A 14: 12,154,131 (GRCm38) S617R probably benign Het
R3hdm2 G A 10: 127,280,313 (GRCm39) G45D probably damaging Het
Rev1 T A 1: 38,098,204 (GRCm39) R780W probably null Het
Rnf139 T A 15: 58,771,676 (GRCm39) F567Y probably damaging Het
Scarf1 T C 11: 75,405,174 (GRCm39) V71A probably damaging Het
Shtn1 A G 19: 58,988,372 (GRCm39) S438P probably damaging Het
Slc30a3 T A 5: 31,246,067 (GRCm39) H221L probably benign Het
Smo A C 6: 29,753,603 (GRCm39) I160L possibly damaging Het
Snapc5 A T 9: 64,086,582 (GRCm39) probably benign Het
Snf8 G T 11: 95,925,799 (GRCm39) probably benign Het
Spata31d1a T C 13: 59,850,245 (GRCm39) S628G probably benign Het
Sphkap A T 1: 83,258,145 (GRCm39) D199E probably damaging Het
Spring1 T C 5: 118,397,154 (GRCm39) Y128H probably damaging Het
Stxbp5l T C 16: 37,024,883 (GRCm39) T572A possibly damaging Het
Thada C A 17: 84,723,731 (GRCm39) V1108L possibly damaging Het
Tln1 T C 4: 43,547,756 (GRCm39) Q735R probably benign Het
Trim24 G A 6: 37,848,169 (GRCm39) E42K probably benign Het
Trnt1 T A 6: 106,754,869 (GRCm39) probably benign Het
Ttbk2 A T 2: 120,604,353 (GRCm39) M215K probably damaging Het
Ttc8 C T 12: 98,909,718 (GRCm39) probably benign Het
Ube3c A G 5: 29,795,926 (GRCm39) Y105C probably damaging Het
Unc13c A G 9: 73,438,265 (GRCm39) probably benign Het
Usp36 A G 11: 118,153,854 (GRCm39) probably benign Het
Vcf2 C T X: 149,181,360 (GRCm39) A144T probably benign Het
Vmn2r102 T C 17: 19,899,106 (GRCm39) S483P possibly damaging Het
Wdr95 A G 5: 149,511,595 (GRCm39) T432A probably damaging Het
Wnk1 G T 6: 119,903,644 (GRCm39) P2523H probably damaging Het
Xpo4 A G 14: 57,875,665 (GRCm39) probably benign Het
Zar1 G T 5: 72,737,886 (GRCm39) P71Q probably damaging Het
Zbtb41 T C 1: 139,351,348 (GRCm39) Y154H probably benign Het
Zer1 G T 2: 29,994,809 (GRCm39) probably benign Het
Zfp454 A G 11: 50,765,012 (GRCm39) F140S 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
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
R9136:Nup210 UTSW 6 91,020,830 (GRCm39) missense possibly damaging 0.53
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'- CAACTCCTACGATGTGGCACCAAG -3'
(R):5'- CTGGGACCACAGTTAGCCTCAATG -3'

Sequencing Primer
(F):5'- GATGTGGCACCAAGCATCTTC -3'
(R):5'- AATGTTGCTCAGTAGGTGATAGG -3'
Posted On 2013-07-11