Incidental Mutation 'R7249:Nup214'
ID 563736
Institutional Source Beutler Lab
Gene Symbol Nup214
Ensembl Gene ENSMUSG00000001855
Gene Name nucleoporin 214
Synonyms CAN, D2H9S46E
MMRRC Submission 045312-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7249 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 31864446-31943204 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31878245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 304 (H304R)
Ref Sequence ENSEMBL: ENSMUSP00000066492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065398]
AlphaFold Q80U93
Predicted Effect possibly damaging
Transcript: ENSMUST00000065398
AA Change: H304R

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066492
Gene: ENSMUSG00000001855
AA Change: H304R

DomainStartEndE-ValueType
WD40 138 178 2.48e0 SMART
WD40 182 220 2.67e-1 SMART
low complexity region 428 441 N/A INTRINSIC
low complexity region 449 467 N/A INTRINSIC
low complexity region 474 493 N/A INTRINSIC
low complexity region 529 546 N/A INTRINSIC
low complexity region 620 640 N/A INTRINSIC
low complexity region 645 656 N/A INTRINSIC
coiled coil region 853 881 N/A INTRINSIC
internal_repeat_1 969 993 1.13e-9 PROSPERO
internal_repeat_1 985 1009 1.13e-9 PROSPERO
low complexity region 1011 1026 N/A INTRINSIC
low complexity region 1049 1064 N/A INTRINSIC
low complexity region 1093 1111 N/A INTRINSIC
low complexity region 1201 1215 N/A INTRINSIC
low complexity region 1226 1248 N/A INTRINSIC
low complexity region 1279 1296 N/A INTRINSIC
low complexity region 1300 1311 N/A INTRINSIC
low complexity region 1391 1426 N/A INTRINSIC
low complexity region 1438 1454 N/A INTRINSIC
low complexity region 1458 1505 N/A INTRINSIC
low complexity region 1559 1573 N/A INTRINSIC
low complexity region 1611 1642 N/A INTRINSIC
low complexity region 1658 1670 N/A INTRINSIC
low complexity region 1686 1715 N/A INTRINSIC
low complexity region 1733 1748 N/A INTRINSIC
low complexity region 1771 1783 N/A INTRINSIC
low complexity region 1799 1832 N/A INTRINSIC
low complexity region 1853 1872 N/A INTRINSIC
low complexity region 1877 1886 N/A INTRINSIC
low complexity region 1898 1910 N/A INTRINSIC
low complexity region 1925 1934 N/A INTRINSIC
low complexity region 1969 1995 N/A INTRINSIC
low complexity region 2007 2032 N/A INTRINSIC
low complexity region 2048 2076 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
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. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Embryos homozygous for a null mutation die between 4.0 and 4.5 dpc, following depletion of maternally-derived gene product. In vitro, cultured 3.5-dpc mutant embryos arrest in the G2 phase, and show blastocoel contraction with defects in NLS-mediated protein import and polyadenylated RNA export. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T C 8: 79,974,970 (GRCm39) T38A probably benign Het
3425401B19Rik G T 14: 32,385,271 (GRCm39) S231R possibly damaging Het
Abi1 T C 2: 22,847,101 (GRCm39) E250G possibly damaging Het
Actl6b T A 5: 137,553,347 (GRCm39) S120T probably damaging Het
Adgrv1 G A 13: 81,522,378 (GRCm39) H5920Y probably damaging Het
Adra2c G A 5: 35,438,299 (GRCm39) R357H probably damaging Het
Ap3d1 T C 10: 80,577,767 (GRCm39) D20G probably damaging Het
Arfgef3 A T 10: 18,506,583 (GRCm39) D847E possibly damaging Het
Cacna1d T C 14: 29,864,660 (GRCm39) E434G probably damaging Het
Carm1 T C 9: 21,497,505 (GRCm39) Y356H probably benign Het
Clip1 T C 5: 123,741,663 (GRCm39) K1075R probably damaging Het
Cyp27b1 G T 10: 126,886,918 (GRCm39) probably null Het
D630045J12Rik A T 6: 38,113,885 (GRCm39) V1769D possibly damaging Het
Dchs2 C T 3: 83,035,336 (GRCm39) Q28* probably null Het
Dpp4 A G 2: 62,215,547 (GRCm39) F107L probably benign Het
Eln AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC 5: 134,739,935 (GRCm39) probably benign Het
Faap24 A G 7: 35,094,485 (GRCm39) V105A probably benign Het
Gabra6 A T 11: 42,208,259 (GRCm39) D166E probably damaging Het
Gfpt1 A G 6: 87,033,126 (GRCm39) E117G probably damaging Het
H2-T10 T C 17: 36,430,269 (GRCm39) D224G probably damaging Het
Hspa12a T A 19: 58,793,865 (GRCm39) E332V probably benign Het
Htr5b T A 1: 121,438,203 (GRCm39) N343Y probably damaging Het
Irf8 C A 8: 121,466,571 (GRCm39) N5K possibly damaging Het
Itgb1 C A 8: 129,446,885 (GRCm39) Q467K probably benign Het
Itpr2 C A 6: 146,212,550 (GRCm39) C1522F probably damaging Het
Jmjd1c T A 10: 67,025,596 (GRCm39) L138I probably benign Het
Lrrc8b G T 5: 105,629,133 (GRCm39) R493L probably benign Het
Malrd1 G T 2: 15,628,151 (GRCm39) C400F probably damaging Het
Marchf8 G A 6: 116,383,195 (GRCm39) E257K probably benign Het
Mastl G A 2: 23,036,151 (GRCm39) H122Y probably damaging Het
Mis18a T C 16: 90,523,202 (GRCm39) K98R possibly damaging Het
Msra A G 14: 64,678,212 (GRCm39) V28A probably benign Het
Mtmr7 A G 8: 41,043,520 (GRCm39) V177A probably benign Het
Nelfcd T C 2: 174,264,999 (GRCm39) probably null Het
Nemp1 T C 10: 127,529,395 (GRCm39) S226P probably damaging Het
Nmnat1 G A 4: 149,554,099 (GRCm39) T147I probably null Het
Ntng2 A G 2: 29,118,004 (GRCm39) V148A probably benign Het
Or4a2 T C 2: 89,248,217 (GRCm39) Y180C probably damaging Het
Phldb2 C A 16: 45,621,977 (GRCm39) A623S probably damaging Het
Pitrm1 C T 13: 6,610,161 (GRCm39) T411I probably damaging Het
Pkn3 G A 2: 29,974,773 (GRCm39) R429Q probably benign Het
Plcb4 A G 2: 135,849,741 (GRCm39) probably null Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Pnp G A 14: 51,188,887 (GRCm39) V227I probably benign Het
Pskh1 T C 8: 106,639,886 (GRCm39) S189P possibly damaging Het
Rbpms2 T G 9: 65,556,632 (GRCm39) V24G probably damaging Het
Robo3 T A 9: 37,336,129 (GRCm39) I446L probably benign Het
Septin8 A T 11: 53,425,949 (GRCm39) K174I probably damaging Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Slco4a1 A G 2: 180,106,604 (GRCm39) Y262C probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spidr T C 16: 15,784,512 (GRCm39) S519G probably benign Het
Ssx2ip A G 3: 146,132,193 (GRCm39) N218S possibly damaging Het
Svil T C 18: 5,056,270 (GRCm39) V381A probably benign Het
Svil T C 18: 5,062,247 (GRCm39) S769P probably damaging Het
Tep1 A T 14: 51,061,732 (GRCm39) C2595S possibly damaging Het
Tiam1 T C 16: 89,640,143 (GRCm39) Y858C probably damaging Het
Tie1 A G 4: 118,343,425 (GRCm39) V146A probably benign Het
Traf3ip1 G T 1: 91,455,361 (GRCm39) E578D probably damaging Het
Trim23 A G 13: 104,324,663 (GRCm39) Y247C probably damaging Het
Tsc2 A G 17: 24,826,729 (GRCm39) W896R probably damaging Het
Vmn1r157 T C 7: 22,461,125 (GRCm39) S2P probably benign Het
Xkr4 T A 1: 3,287,033 (GRCm39) T386S probably damaging Het
Zdhhc24 T G 19: 4,928,889 (GRCm39) V38G possibly damaging Het
Other mutations in Nup214
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Nup214 APN 2 31,923,991 (GRCm39) missense probably damaging 1.00
IGL00649:Nup214 APN 2 31,896,733 (GRCm39) missense probably benign 0.27
IGL01149:Nup214 APN 2 31,924,712 (GRCm39) missense probably damaging 1.00
IGL01360:Nup214 APN 2 31,928,190 (GRCm39) unclassified probably benign
IGL01409:Nup214 APN 2 31,916,943 (GRCm39) splice site probably null
IGL01530:Nup214 APN 2 31,923,733 (GRCm39) missense probably benign
IGL01554:Nup214 APN 2 31,941,084 (GRCm39) nonsense probably null
IGL01944:Nup214 APN 2 31,924,971 (GRCm39) nonsense probably null
IGL02296:Nup214 APN 2 31,878,200 (GRCm39) missense possibly damaging 0.65
IGL02563:Nup214 APN 2 31,867,872 (GRCm39) missense probably damaging 1.00
IGL02688:Nup214 APN 2 31,921,287 (GRCm39) missense probably benign
IGL02858:Nup214 APN 2 31,900,384 (GRCm39) splice site probably benign
IGL02953:Nup214 APN 2 31,878,241 (GRCm39) missense possibly damaging 0.87
IGL03090:Nup214 APN 2 31,908,254 (GRCm39) missense probably benign 0.01
IGL03124:Nup214 APN 2 31,886,452 (GRCm39) missense probably benign 0.27
IGL03225:Nup214 APN 2 31,924,423 (GRCm39) missense probably damaging 1.00
IGL03375:Nup214 APN 2 31,900,233 (GRCm39) missense probably damaging 0.97
Des_moines UTSW 2 31,870,596 (GRCm39) splice site probably null
ANU74:Nup214 UTSW 2 31,924,978 (GRCm39) missense probably damaging 0.99
R0035:Nup214 UTSW 2 31,880,379 (GRCm39) splice site probably null
R0243:Nup214 UTSW 2 31,888,069 (GRCm39) splice site probably benign
R0270:Nup214 UTSW 2 31,924,826 (GRCm39) missense probably damaging 0.96
R0358:Nup214 UTSW 2 31,894,312 (GRCm39) splice site probably null
R1168:Nup214 UTSW 2 31,915,313 (GRCm39) missense probably benign
R1242:Nup214 UTSW 2 31,867,782 (GRCm39) missense probably benign 0.00
R1481:Nup214 UTSW 2 31,924,478 (GRCm39) missense probably damaging 1.00
R1482:Nup214 UTSW 2 31,924,478 (GRCm39) missense probably damaging 1.00
R1579:Nup214 UTSW 2 31,924,478 (GRCm39) missense probably damaging 1.00
R1580:Nup214 UTSW 2 31,924,478 (GRCm39) missense probably damaging 1.00
R1581:Nup214 UTSW 2 31,924,478 (GRCm39) missense probably damaging 1.00
R1610:Nup214 UTSW 2 31,924,478 (GRCm39) missense probably damaging 1.00
R1894:Nup214 UTSW 2 31,886,392 (GRCm39) missense possibly damaging 0.66
R2146:Nup214 UTSW 2 31,924,478 (GRCm39) missense probably damaging 1.00
R2149:Nup214 UTSW 2 31,924,478 (GRCm39) missense probably damaging 1.00
R2293:Nup214 UTSW 2 31,916,887 (GRCm39) missense probably benign
R2924:Nup214 UTSW 2 31,888,015 (GRCm39) missense probably damaging 1.00
R2925:Nup214 UTSW 2 31,888,015 (GRCm39) missense probably damaging 1.00
R3037:Nup214 UTSW 2 31,866,632 (GRCm39) missense probably benign 0.00
R3426:Nup214 UTSW 2 31,923,415 (GRCm39) missense probably damaging 0.97
R3799:Nup214 UTSW 2 31,924,694 (GRCm39) missense probably damaging 1.00
R3843:Nup214 UTSW 2 31,941,112 (GRCm39) missense probably damaging 1.00
R4323:Nup214 UTSW 2 31,884,696 (GRCm39) missense probably benign
R4353:Nup214 UTSW 2 31,867,929 (GRCm39) critical splice donor site probably null
R4601:Nup214 UTSW 2 31,887,977 (GRCm39) missense probably benign 0.36
R4626:Nup214 UTSW 2 31,923,416 (GRCm39) missense possibly damaging 0.92
R4874:Nup214 UTSW 2 31,870,596 (GRCm39) splice site probably null
R4938:Nup214 UTSW 2 31,873,171 (GRCm39) missense probably benign 0.00
R4939:Nup214 UTSW 2 31,873,171 (GRCm39) missense probably benign 0.00
R5027:Nup214 UTSW 2 31,881,329 (GRCm39) missense probably damaging 1.00
R5358:Nup214 UTSW 2 31,907,158 (GRCm39) missense unknown
R5406:Nup214 UTSW 2 31,892,619 (GRCm39) missense probably damaging 0.96
R5507:Nup214 UTSW 2 31,878,188 (GRCm39) missense possibly damaging 0.87
R5695:Nup214 UTSW 2 31,924,385 (GRCm39) missense probably damaging 1.00
R5744:Nup214 UTSW 2 31,900,308 (GRCm39) missense probably damaging 0.97
R5908:Nup214 UTSW 2 31,881,353 (GRCm39) missense probably benign 0.03
R5967:Nup214 UTSW 2 31,869,790 (GRCm39) missense possibly damaging 0.52
R6140:Nup214 UTSW 2 31,941,808 (GRCm39) missense possibly damaging 0.92
R6243:Nup214 UTSW 2 31,892,944 (GRCm39) missense possibly damaging 0.81
R6488:Nup214 UTSW 2 31,881,384 (GRCm39) missense possibly damaging 0.93
R6934:Nup214 UTSW 2 31,872,683 (GRCm39) nonsense probably null
R6970:Nup214 UTSW 2 31,941,810 (GRCm39) missense probably damaging 1.00
R7028:Nup214 UTSW 2 31,924,168 (GRCm39) missense probably benign 0.22
R7114:Nup214 UTSW 2 31,915,256 (GRCm39) missense possibly damaging 0.83
R7120:Nup214 UTSW 2 31,941,054 (GRCm39) missense probably benign 0.07
R7821:Nup214 UTSW 2 31,916,917 (GRCm39) missense possibly damaging 0.83
R8026:Nup214 UTSW 2 31,923,362 (GRCm39) missense possibly damaging 0.55
R8264:Nup214 UTSW 2 31,884,738 (GRCm39) missense possibly damaging 0.79
R8284:Nup214 UTSW 2 31,886,458 (GRCm39) missense possibly damaging 0.83
R8356:Nup214 UTSW 2 31,929,372 (GRCm39) missense probably benign 0.05
R8397:Nup214 UTSW 2 31,880,266 (GRCm39) missense probably damaging 0.96
R8456:Nup214 UTSW 2 31,929,372 (GRCm39) missense probably benign 0.05
R8785:Nup214 UTSW 2 31,924,465 (GRCm39) missense probably damaging 0.97
R9257:Nup214 UTSW 2 31,923,347 (GRCm39) missense possibly damaging 0.92
R9291:Nup214 UTSW 2 31,867,806 (GRCm39) missense probably benign 0.00
R9376:Nup214 UTSW 2 31,924,244 (GRCm39) missense probably benign 0.00
R9408:Nup214 UTSW 2 31,937,523 (GRCm39) missense probably damaging 1.00
R9613:Nup214 UTSW 2 31,901,035 (GRCm39) missense possibly damaging 0.90
R9789:Nup214 UTSW 2 31,907,227 (GRCm39) missense possibly damaging 0.46
RF015:Nup214 UTSW 2 31,924,718 (GRCm39) missense probably benign 0.00
X0026:Nup214 UTSW 2 31,910,318 (GRCm39) missense possibly damaging 0.46
X0065:Nup214 UTSW 2 31,932,488 (GRCm39) missense probably damaging 1.00
Z1088:Nup214 UTSW 2 31,901,235 (GRCm39) missense probably benign 0.27
Z1176:Nup214 UTSW 2 31,924,237 (GRCm39) nonsense probably null
Z1176:Nup214 UTSW 2 31,900,270 (GRCm39) missense possibly damaging 0.66
Z1177:Nup214 UTSW 2 31,887,971 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- TCAGAGCTCATCCCTATGTGTG -3'
(R):5'- TTGGGAAGTTGCCTCCCTAG -3'

Sequencing Primer
(F):5'- GTGCACAGACTTTTGTATCCAG -3'
(R):5'- GTTGCCTCCCTAGCCAAAG -3'
Posted On 2019-06-26