Incidental Mutation 'R9130:Nup210'
ID 693534
Institutional Source Beutler Lab
Gene Symbol Nup210
Ensembl Gene ENSMUSG00000030091
Gene Name nucleoporin 210
Synonyms gp190, gp210, Pom210
MMRRC Submission 068928-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9130 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 90990050-91093811 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91020799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 965 (F965S)
Ref Sequence ENSEMBL: ENSMUSP00000032179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032179] [ENSMUST00000113509] [ENSMUST00000142951]
AlphaFold Q9QY81
Predicted Effect probably benign
Transcript: ENSMUST00000032179
AA Change: F965S

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000032179
Gene: ENSMUSG00000030091
AA Change: F965S

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 benign
Transcript: ENSMUST00000113509
AA Change: F921S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000109137
Gene: ENSMUSG00000030091
AA Change: F921S

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 probably benign
Transcript: ENSMUST00000142951
AA Change: F178S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000120098
Gene: ENSMUSG00000030091
AA Change: F178S

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (87/88)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr A G 11: 76,342,753 (GRCm39) C585R possibly damaging Het
Acaca T C 11: 84,202,145 (GRCm39) L1380S probably damaging Het
Aifm2 A C 10: 61,563,505 (GRCm39) Q125P probably null Het
Ak5 A T 3: 152,178,569 (GRCm39) L482* probably null Het
Aldh3a2 T C 11: 61,139,758 (GRCm39) Q458R probably benign Het
Ank2 G A 3: 126,810,565 (GRCm39) T524I Het
Apoc3 A T 9: 46,146,481 (GRCm39) S25T unknown Het
Ash1l A T 3: 88,965,848 (GRCm39) R2417* probably null Het
Bbs12 A G 3: 37,373,205 (GRCm39) probably benign Het
Birc6 T A 17: 74,919,146 (GRCm39) I1992N Het
Brd9 G A 13: 74,092,906 (GRCm39) V299M probably damaging Het
Brwd1 A T 16: 95,866,130 (GRCm39) N217K probably damaging Het
C3 T C 17: 57,518,678 (GRCm39) Y1235C probably damaging Het
Cacna1c T C 6: 118,590,907 (GRCm39) Y1538C Het
Ccdc172 T A 19: 58,525,779 (GRCm39) H212Q possibly damaging Het
Cdc6 A G 11: 98,802,999 (GRCm39) D313G probably damaging Het
Cyp2e1 T C 7: 140,353,022 (GRCm39) V353A probably damaging Het
Dlg2 G T 7: 92,080,258 (GRCm39) V711F probably damaging Het
Dmac2 T C 7: 25,320,448 (GRCm39) F49S probably damaging Het
Dnah7b A G 1: 46,173,674 (GRCm39) K660E probably benign Het
Dusp8 A T 7: 141,642,155 (GRCm39) S106T probably benign Het
Dynll1 T A 5: 115,438,604 (GRCm39) I34F probably benign Het
Epb41l4b A G 4: 57,103,447 (GRCm39) F130L possibly damaging Het
Erc2 T C 14: 27,751,418 (GRCm39) Y705H probably benign Het
Exosc8 T A 3: 54,638,503 (GRCm39) L160F probably damaging Het
F5 A G 1: 164,001,830 (GRCm39) T178A probably benign Het
F7 C A 8: 13,085,059 (GRCm39) P362T probably damaging Het
Fkbp3 T C 12: 65,112,567 (GRCm39) K156E possibly damaging Het
Folh1 G A 7: 86,368,913 (GRCm39) T738I probably benign Het
Gatad2b C T 3: 90,255,936 (GRCm39) A134V probably benign Het
Glud1 T A 14: 34,057,349 (GRCm39) W338R Het
Gm21149 T C 5: 15,680,261 (GRCm39) K62E possibly damaging Het
Gm32742 A G 9: 51,050,049 (GRCm39) Y1517H probably damaging Het
Grik5 G A 7: 24,767,429 (GRCm39) probably benign Het
Gse1 A T 8: 121,295,052 (GRCm39) E391V unknown Het
Gxylt2 C T 6: 100,710,329 (GRCm39) Q157* probably null Het
Hbq1b C T 11: 32,237,092 (GRCm39) T27I probably damaging Het
Hoxd13 T A 2: 74,499,382 (GRCm39) D243E probably benign Het
Hsd3b3 T A 3: 98,651,211 (GRCm39) I80F possibly damaging Het
Hsf2bp A T 17: 32,230,082 (GRCm39) probably benign Het
Itch G A 2: 155,052,045 (GRCm39) probably benign Het
Kat14 T C 2: 144,215,742 (GRCm39) F76L probably benign Het
Kdm6b T C 11: 69,295,424 (GRCm39) T948A unknown Het
Kmt2c A T 5: 25,516,102 (GRCm39) H2580Q probably benign Het
Lrp1 T C 10: 127,382,281 (GRCm39) T3727A probably benign Het
Lrrc8a A G 2: 30,147,042 (GRCm39) I619V possibly damaging Het
Mansc1 C A 6: 134,586,951 (GRCm39) G409W probably damaging Het
Map3k11 C A 19: 5,746,038 (GRCm39) L418I possibly damaging Het
Mettl4 T A 17: 95,042,913 (GRCm39) I308L possibly damaging Het
Myo9a A G 9: 59,739,514 (GRCm39) D742G probably damaging Het
Mypn T C 10: 63,028,652 (GRCm39) Q137R probably benign Het
Neurod4 A T 10: 130,106,427 (GRCm39) Y282* probably null Het
Oplah T C 15: 76,185,098 (GRCm39) T872A possibly damaging Het
Or1ab2 G T 8: 72,863,697 (GRCm39) G96C probably damaging Het
Or4b12 A G 2: 90,096,358 (GRCm39) C139R probably damaging Het
Or5m8 T G 2: 85,822,819 (GRCm39) Y219* probably null Het
Or6c68 A G 10: 129,157,897 (GRCm39) N135S probably benign Het
Pkn2 A T 3: 142,515,245 (GRCm39) D696E possibly damaging Het
Pla2r1 A T 2: 60,325,729 (GRCm39) probably benign Het
Plpp1 A T 13: 112,988,038 (GRCm39) I54L Het
Ppp4r2 T G 6: 100,842,113 (GRCm39) N191K probably damaging Het
Ptpdc1 G T 13: 48,739,655 (GRCm39) P592Q probably benign Het
Qrich2 A T 11: 116,347,692 (GRCm39) L1044* probably null Het
Rb1cc1 A G 1: 6,315,109 (GRCm39) I421V probably damaging Het
Ripor3 A T 2: 167,823,267 (GRCm39) C881* probably null Het
Rreb1 T C 13: 38,114,282 (GRCm39) F547S probably benign Het
Scel T C 14: 103,770,746 (GRCm39) V60A probably benign Het
Shank3 G A 15: 89,442,419 (GRCm39) A1771T probably benign Het
Slc6a20a A G 9: 123,469,631 (GRCm39) probably null Het
Slfn5 C T 11: 82,851,446 (GRCm39) T581I probably damaging Het
Ssh3 A C 19: 4,314,113 (GRCm39) V412G probably damaging Het
Stx17 T G 4: 48,159,071 (GRCm39) probably benign Het
Sun3 T G 11: 8,968,170 (GRCm39) T274P probably benign Het
Tm9sf1 T C 14: 55,875,464 (GRCm39) T427A probably damaging Het
Tmem114 T A 16: 8,229,983 (GRCm39) I140F Het
Tmem40 T C 6: 115,710,980 (GRCm39) R167G possibly damaging Het
Top3a C A 11: 60,641,401 (GRCm39) probably null Het
Trafd1 A G 5: 121,516,573 (GRCm39) V210A probably benign Het
Trim66 T C 7: 109,076,896 (GRCm39) I348V possibly damaging Het
Ttn G A 2: 76,679,172 (GRCm39) A10850V unknown Het
Unc80 G A 1: 66,677,244 (GRCm39) A2058T possibly damaging Het
Upp2 T C 2: 58,668,020 (GRCm39) Y238H probably damaging Het
Vmn1r224 T A 17: 20,640,242 (GRCm39) I273N probably damaging Het
Vps13c T C 9: 67,836,805 (GRCm39) S1768P probably damaging Het
Zfp26 G A 9: 20,348,723 (GRCm39) H614Y probably damaging Het
Zfp263 C T 16: 3,567,701 (GRCm39) T672I probably benign Het
Zfp641 T A 15: 98,186,732 (GRCm39) Q297L probably benign Het
Zfp944 T C 17: 22,560,031 (GRCm39) E25G probably damaging Het
Zfp994 T C 17: 22,418,981 (GRCm39) E656G unknown Het
Zfyve19 A G 2: 119,045,330 (GRCm39) D206G probably damaging 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
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'- TCCGTAAGAAGCACAGGAGTC -3'
(R):5'- CAGAGGCCTTCTGTGTTCAC -3'

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