Incidental Mutation 'R4996:Nup210'
ID 385242
Institutional Source Beutler Lab
Gene Symbol Nup210
Ensembl Gene ENSMUSG00000030091
Gene Name nucleoporin 210
Synonyms gp190, gp210, Pom210
MMRRC Submission 042590-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4996 (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 T at 91030418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 137 (F137Y)
Ref Sequence ENSEMBL: ENSMUSP00000120098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032179] [ENSMUST00000113509] [ENSMUST00000142951]
AlphaFold Q9QY81
Predicted Effect probably benign
Transcript: ENSMUST00000032179
AA Change: F924Y

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000032179
Gene: ENSMUSG00000030091
AA Change: F924Y

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: F880Y

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109137
Gene: ENSMUSG00000030091
AA Change: F880Y

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: ENSMUST00000139051
Predicted Effect probably benign
Transcript: ENSMUST00000142951
AA Change: F137Y

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120098
Gene: ENSMUSG00000030091
AA Change: F137Y

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.5%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Actl11 A G 9: 107,808,934 (GRCm39) I1086V possibly damaging Het
Adgrv1 T C 13: 81,726,853 (GRCm39) S500G probably benign Het
Ahcyl1 A T 3: 107,575,603 (GRCm39) V394E probably damaging Het
Alg9 T C 9: 50,720,005 (GRCm39) F494L probably damaging Het
Ankrd55 C A 13: 112,492,622 (GRCm39) D264E possibly damaging Het
Asb14 A G 14: 26,634,073 (GRCm39) N426S possibly damaging Het
Atm A T 9: 53,435,807 (GRCm39) F168I probably benign Het
Atp13a4 A T 16: 29,290,822 (GRCm39) I209N probably damaging Het
BB014433 A T 8: 15,092,166 (GRCm39) L229Q probably benign Het
Calml3 T C 13: 3,854,142 (GRCm39) D21G probably damaging Het
Capn10 A G 1: 92,872,858 (GRCm39) N528S probably damaging Het
Ccnl2 T A 4: 155,897,981 (GRCm39) D141E possibly damaging Het
Cd163 A G 6: 124,296,106 (GRCm39) I817V probably benign Het
Cgnl1 CTTGCCCAGGTT CTT 9: 71,632,108 (GRCm39) probably benign Het
Cln6 T A 9: 62,757,937 (GRCm39) I232N probably damaging Het
Col22a1 A C 15: 71,879,010 (GRCm39) V49G probably damaging Het
Csmd1 A T 8: 15,960,452 (GRCm39) M3321K probably damaging Het
Cyp2u1 T A 3: 131,091,933 (GRCm39) M196L probably benign Het
Dlec1 T G 9: 118,975,118 (GRCm39) L1566R probably damaging Het
Dnajc3 A G 14: 119,209,839 (GRCm39) T305A probably benign Het
Drp2 G A X: 133,342,065 (GRCm39) R567H probably damaging Homo
Efhd1 G T 1: 87,192,280 (GRCm39) G37W possibly damaging Het
Exph5 G C 9: 53,286,910 (GRCm39) E1330D possibly damaging Het
Fbln2 A T 6: 91,242,992 (GRCm39) Y913F probably benign Het
Fmnl1 G A 11: 103,073,482 (GRCm39) S167N possibly damaging Het
Frs3 A G 17: 48,012,635 (GRCm39) E114G probably damaging Het
Gmpr2 T C 14: 55,914,252 (GRCm39) I169T probably damaging Het
Gria2 A G 3: 80,614,448 (GRCm39) S531P probably damaging Het
Hace1 G A 10: 45,526,046 (GRCm39) A296T probably benign Het
Ift70a1 C T 2: 75,810,266 (GRCm39) G606S probably benign Het
Inhbb A C 1: 119,348,548 (GRCm39) L90R probably damaging Het
Insr C T 8: 3,242,665 (GRCm39) R18Q probably null Het
Kdm6b G T 11: 69,296,557 (GRCm39) P570Q probably damaging Het
Lama3 T C 18: 12,651,800 (GRCm39) V1803A probably benign Het
Lpin3 T A 2: 160,747,207 (GRCm39) L811Q probably damaging Het
Lrrc8e C T 8: 4,285,166 (GRCm39) L464F probably damaging Het
Micall2 A G 5: 139,696,344 (GRCm39) S729P probably benign Het
Naca C T 10: 127,878,298 (GRCm39) probably benign Het
Nav1 A T 1: 135,393,709 (GRCm39) S1010T probably damaging Het
Nefm T C 14: 68,358,570 (GRCm39) probably benign Het
Nlrp9c A T 7: 26,085,172 (GRCm39) F136I possibly damaging Het
Or1o3 A G 17: 37,573,758 (GRCm39) S266P probably benign Het
Or3a1c A G 11: 74,046,157 (GRCm39) H59R probably damaging Het
Or8k32 T C 2: 86,368,615 (GRCm39) I215V probably benign Het
Otog C A 7: 45,948,030 (GRCm39) H2344N possibly damaging Het
Otog C A 7: 45,954,934 (GRCm39) C517* probably null Het
Pcdhac1 C T 18: 37,225,580 (GRCm39) Q798* probably null Het
Pdhx T C 2: 102,860,657 (GRCm39) D330G probably damaging Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Pgr C A 9: 8,900,914 (GRCm39) P149Q probably damaging Het
Plaat1 G A 16: 29,036,456 (GRCm39) W31* probably null Het
Ppm1h A T 10: 122,777,245 (GRCm39) I504F probably damaging Het
Ppp6r3 A G 19: 3,523,833 (GRCm39) S556P probably damaging Het
Ranbp9 G A 13: 43,578,570 (GRCm39) Q168* probably null Het
Relb A T 7: 19,349,528 (GRCm39) L259Q probably benign Het
Rfx5 G A 3: 94,863,126 (GRCm39) V73I probably benign Het
Rgcc T C 14: 79,527,716 (GRCm39) D125G possibly damaging Het
Rmnd5b A G 11: 51,518,735 (GRCm39) V86A probably damaging Het
Slc15a5 G A 6: 138,020,583 (GRCm39) T250M probably damaging Het
Slc7a2 A T 8: 41,365,599 (GRCm39) K477* probably null Het
Slx9 A T 10: 77,351,367 (GRCm39) W14R probably null Het
Smc2 T A 4: 52,461,042 (GRCm39) probably null Het
Sox5 A T 6: 143,974,070 (GRCm39) L226* probably null Het
Sp140l2 G T 1: 85,224,815 (GRCm39) A240E probably benign Het
Syne2 A G 12: 75,990,724 (GRCm39) E1903G possibly damaging Het
Tenm3 A T 8: 48,688,861 (GRCm39) I2226N probably damaging Het
Tmtc3 A T 10: 100,283,086 (GRCm39) I823N probably damaging Het
Top6bl T A 19: 4,676,112 (GRCm39) K673N probably benign Het
Tor3a T C 1: 156,483,342 (GRCm39) Y360C probably damaging Het
Trpc3 T C 3: 36,716,967 (GRCm39) E357G probably benign Het
Tubgcp6 A T 15: 88,987,693 (GRCm39) N1093K possibly damaging Het
Vmn1r64 T A 7: 5,887,052 (GRCm39) T164S probably benign Het
Vmn2r40 T A 7: 8,911,166 (GRCm39) Q709L probably damaging Het
Vmn2r81 A T 10: 79,129,247 (GRCm39) I713L probably benign Het
Washc5 T C 15: 59,205,484 (GRCm39) T686A probably benign Het
Wipf1 GCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCC 2: 73,270,418 (GRCm39) 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
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'- ACCAGAGAACTTCAGAGCTGC -3'
(R):5'- ACCCTCTAGTACCTGTGTCAG -3'

Sequencing Primer
(F):5'- CTTCAGAGCTGCTCAGAAGC -3'
(R):5'- TGTGTCAGCCTCCATTGAAC -3'
Posted On 2016-05-10