Incidental Mutation 'R1851:Nup210'
ID 208082
Institutional Source Beutler Lab
Gene Symbol Nup210
Ensembl Gene ENSMUSG00000030091
Gene Name nucleoporin 210
Synonyms gp190, gp210, Pom210
MMRRC Submission 039875-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1851 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 90990050-91093811 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90993036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1017 (L1017P)
Ref Sequence ENSEMBL: ENSMUSP00000120098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032179] [ENSMUST00000113509] [ENSMUST00000142951]
AlphaFold Q9QY81
Predicted Effect probably damaging
Transcript: ENSMUST00000032179
AA Change: L1804P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032179
Gene: ENSMUSG00000030091
AA Change: L1804P

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 probably damaging
Transcript: ENSMUST00000113509
AA Change: L1760P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109137
Gene: ENSMUSG00000030091
AA Change: L1760P

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: ENSMUST00000123340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141952
Predicted Effect probably damaging
Transcript: ENSMUST00000142951
AA Change: L1017P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120098
Gene: ENSMUSG00000030091
AA Change: L1017P

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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.3%
Validation Efficiency
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
5730507C01Rik A G 12: 18,583,687 (GRCm39) E225G possibly damaging Het
Abcb7 T C X: 103,349,005 (GRCm39) M153V probably benign Het
Abi1 A T 2: 22,840,276 (GRCm39) V329D possibly damaging Het
Ablim3 G A 18: 61,982,466 (GRCm39) H160Y probably benign Het
Acox3 A T 5: 35,766,406 (GRCm39) D624V possibly damaging Het
Adam6b A G 12: 113,455,442 (GRCm39) D753G probably benign Het
Ago1 C A 4: 126,333,788 (GRCm39) R771L probably benign Het
Aktip A G 8: 91,852,505 (GRCm39) V217A possibly damaging Het
Ankk1 A C 9: 49,327,150 (GRCm39) H676Q probably benign Het
Arl1 G C 10: 88,569,408 (GRCm39) probably benign Het
Asxl3 T A 18: 22,650,796 (GRCm39) D928E probably damaging Het
AW209491 T C 13: 14,811,318 (GRCm39) V57A possibly damaging Het
B3galt4 G T 17: 34,169,885 (GRCm39) Q118K probably benign Het
Ccdc187 A T 2: 26,166,080 (GRCm39) M783K probably benign Het
Cdon T G 9: 35,394,454 (GRCm39) M900R probably damaging Het
Ceacam5 G A 7: 17,448,835 (GRCm39) W67* probably null Het
Chd5 A G 4: 152,462,727 (GRCm39) S1356G probably damaging Het
Chil3 C T 3: 106,056,117 (GRCm39) probably null Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cntn1 C T 15: 92,203,021 (GRCm39) R768C probably damaging Het
Col6a3 T A 1: 90,735,256 (GRCm39) I798F possibly damaging Het
Cpxcr1 T A X: 115,387,758 (GRCm39) L223* probably null Het
Cpz C A 5: 35,659,902 (GRCm39) R581L possibly damaging Het
Cxcr2 A G 1: 74,198,438 (GRCm39) I311V probably benign Het
Cym T A 3: 107,126,030 (GRCm39) I78F probably benign Het
Defb8 A T 8: 19,495,899 (GRCm39) S54T probably benign Het
Dennd4a A G 9: 64,769,312 (GRCm39) T433A probably damaging Het
Dhx29 A G 13: 113,084,815 (GRCm39) T678A probably damaging Het
Dspp T C 5: 104,321,951 (GRCm39) probably null Het
Enkur G T 2: 21,193,988 (GRCm39) A195E probably benign Het
Ero1b T A 13: 12,619,292 (GRCm39) S429T possibly damaging Het
Fh1 A G 1: 175,435,452 (GRCm39) S344P probably damaging Het
Flnc G T 6: 29,443,478 (GRCm39) G553V probably damaging Het
Fmo1 A T 1: 162,657,554 (GRCm39) L529* probably null Het
Frem1 C A 4: 82,868,737 (GRCm39) V1415F probably damaging Het
Gatb T G 3: 85,526,184 (GRCm39) L354R probably damaging Het
Gdpgp1 A T 7: 79,888,349 (GRCm39) N127Y probably damaging Het
Gpat2 A G 2: 127,276,739 (GRCm39) T648A possibly damaging Het
Grk6 C T 13: 55,599,591 (GRCm39) R225* probably null Het
Hells A T 19: 38,948,120 (GRCm39) Q682L probably null Het
Hspa5 T A 2: 34,664,690 (GRCm39) N381K possibly damaging Het
Ighmbp2 T C 19: 3,312,075 (GRCm39) N893S probably benign Het
Ipo11 A T 13: 106,948,765 (GRCm39) V914E possibly damaging Het
Lars1 T C 18: 42,345,673 (GRCm39) N1001S probably benign Het
Lats2 A G 14: 57,934,912 (GRCm39) L606P probably damaging Het
Map4k1 T C 7: 28,699,209 (GRCm39) Y521H probably benign Het
Marchf11 T A 15: 26,387,916 (GRCm39) V257E probably damaging Het
Med23 G A 10: 24,786,768 (GRCm39) probably null Het
Meltf A G 16: 31,715,395 (GRCm39) D696G probably benign Het
Ms4a7 T A 19: 11,301,788 (GRCm39) M212L probably benign Het
Mx1 A T 16: 97,249,403 (GRCm39) L608Q probably damaging Het
Myh1 T C 11: 67,095,224 (GRCm39) Y195H probably damaging Het
Napb G T 2: 148,548,909 (GRCm39) H110Q probably benign Het
Ngly1 C T 14: 16,260,585 (GRCm38) P90S probably damaging Het
Nlrp1b T A 11: 71,073,442 (GRCm39) I134L possibly damaging Het
Nup85 T A 11: 115,472,643 (GRCm39) I233N probably damaging Het
Obsl1 A G 1: 75,469,537 (GRCm39) V965A probably damaging Het
Or4c12 A C 2: 89,774,158 (GRCm39) Y100* probably null Het
Or4f6 T C 2: 111,839,036 (GRCm39) D165G probably benign Het
Or6c5c T C 10: 129,299,370 (GRCm39) L275P probably damaging Het
Pak1ip1 A G 13: 41,164,708 (GRCm39) T264A possibly damaging Het
Pard6g C T 18: 80,160,357 (GRCm39) R157C probably damaging Het
Pcdhb7 A T 18: 37,475,631 (GRCm39) T256S possibly damaging Het
Phrf1 T C 7: 140,820,831 (GRCm39) F153L probably damaging Het
Pigw A T 11: 84,768,874 (GRCm39) F152I probably damaging Het
Pip4k2c A G 10: 127,036,744 (GRCm39) S222P probably damaging Het
Pjvk A G 2: 76,487,775 (GRCm39) probably null Het
Plxnd1 C T 6: 115,940,875 (GRCm39) V1355M probably damaging Het
Pramel26 T C 4: 143,539,396 (GRCm39) I32M probably benign Het
Prss22 G A 17: 24,215,288 (GRCm39) P163S probably damaging Het
Prune2 A G 19: 17,176,503 (GRCm39) I154V probably damaging Het
Rapgef6 T A 11: 54,533,637 (GRCm39) D362E probably benign Het
Retreg2 A G 1: 75,123,319 (GRCm39) K416E probably benign Het
Scn7a T C 2: 66,510,635 (GRCm39) I1256V probably benign Het
Sema4d A G 13: 51,865,258 (GRCm39) V362A possibly damaging Het
Septin4 T A 11: 87,459,741 (GRCm39) D496E probably damaging Het
Slc25a34 G A 4: 141,349,579 (GRCm39) T192I probably benign Het
Tacc3 G T 5: 33,825,544 (GRCm39) V425L probably benign Het
Tfdp2 A T 9: 96,179,762 (GRCm39) K125I probably damaging Het
Tjp2 C T 19: 24,076,899 (GRCm39) R952Q possibly damaging Het
Tk2 G T 8: 104,975,077 (GRCm39) S30* probably null Het
Tmem74 A T 15: 43,730,559 (GRCm39) D161E probably benign Het
Tmprss9 G A 10: 80,728,119 (GRCm39) V570M probably damaging Het
Tnk2 C A 16: 32,498,280 (GRCm39) P26Q probably damaging Het
Tnpo2 T G 8: 85,778,401 (GRCm39) V610G probably damaging Het
Trim37 T C 11: 87,109,132 (GRCm39) F953S probably damaging Het
U2surp T A 9: 95,364,150 (GRCm39) K589* probably null Het
Usp2 G A 9: 43,987,263 (GRCm39) R187H probably benign Het
Vmn2r1 C T 3: 64,008,926 (GRCm39) T535I probably benign Het
Wdr20rt T A 12: 65,273,925 (GRCm39) S463T possibly damaging Het
Zbtb25 C A 12: 76,396,488 (GRCm39) G245W probably damaging Het
Zc3h14 T A 12: 98,726,613 (GRCm39) L27* probably null Het
Zfp2 T C 11: 50,791,915 (GRCm39) K43E probably benign Het
Zfp268 T G 4: 145,350,820 (GRCm39) probably benign Het
Zfp654 A G 16: 64,605,491 (GRCm39) Y904H 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
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'- GTGCACAGACTGTATGGTAGG -3'
(R):5'- GCCAAGCTGGTACCTAAGGATAC -3'

Sequencing Primer
(F):5'- ACTGTATGGTAGGCTGCAAG -3'
(R):5'- GAGATGCTGCCCTTGTCTAGACAC -3'
Posted On 2014-06-23