Incidental Mutation 'R5081:Kpna3'
ID 387148
Institutional Source Beutler Lab
Gene Symbol Kpna3
Ensembl Gene ENSMUSG00000021929
Gene Name karyopherin subunit alpha 3
Synonyms importin alpha 4, IPOA4, importin alpha 4
MMRRC Submission 042670-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.645) question?
Stock # R5081 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 61602660-61677323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 61628694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 101 (S101N)
Ref Sequence ENSEMBL: ENSMUSP00000022496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022496]
AlphaFold O35344
Predicted Effect probably damaging
Transcript: ENSMUST00000022496
AA Change: S101N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022496
Gene: ENSMUSG00000021929
AA Change: S101N

DomainStartEndE-ValueType
Pfam:IBB 7 93 1e-25 PFAM
ARM 103 144 9.52e-11 SMART
ARM 146 186 2.15e-9 SMART
ARM 188 229 8.59e0 SMART
ARM 232 271 1.78e-1 SMART
ARM 273 313 4.31e-9 SMART
ARM 315 355 5.91e-7 SMART
ARM 357 397 5.22e-8 SMART
ARM 400 440 1.51e-4 SMART
Pfam:Arm_3 447 499 5.4e-25 PFAM
Meta Mutation Damage Score 0.1424 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 93% (65/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI593442 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 9: 52,589,114 (GRCm39) probably benign Het
Aig1 A G 10: 13,677,644 (GRCm39) I116T probably benign Het
Alox12 A T 11: 70,146,140 (GRCm39) probably null Het
Ap3s1 T A 18: 46,887,497 (GRCm39) D43E probably benign Het
Arhgap35 A G 7: 16,299,059 (GRCm39) M2T possibly damaging Het
Asah2 T A 19: 31,991,708 (GRCm39) E451V probably benign Het
Ash1l T G 3: 88,892,024 (GRCm39) I1301S probably damaging Het
Ass1 G A 2: 31,378,665 (GRCm39) probably null Het
Ccpg1 A G 9: 72,906,360 (GRCm39) T39A possibly damaging Het
Cd101 T A 3: 100,911,021 (GRCm39) Y879F possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh23 T C 10: 60,272,586 (GRCm39) T530A possibly damaging Het
Cep68 G T 11: 20,188,477 (GRCm39) Q643K probably damaging Het
Ces1c A G 8: 93,854,197 (GRCm39) S113P probably damaging Het
Cnga4 T C 7: 105,056,232 (GRCm39) I278T probably benign Het
Col1a1 A G 11: 94,842,402 (GRCm39) D1440G unknown Het
Cspp1 A G 1: 10,117,691 (GRCm39) I48V possibly damaging Het
Ctsj T A 13: 61,151,664 (GRCm39) S85C possibly damaging Het
Cyp39a1 C A 17: 44,057,488 (GRCm39) D442E probably damaging Het
Dock3 A T 9: 106,868,292 (GRCm39) F664Y probably damaging Het
Gpcpd1 A T 2: 132,389,622 (GRCm39) H244Q probably benign Het
Gtf3a T A 5: 146,888,092 (GRCm39) V131E probably benign Het
Gtpbp3 A T 8: 71,943,026 (GRCm39) R147W probably damaging Het
H2-Oa A T 17: 34,313,344 (GRCm39) I132F probably damaging Het
Hsd17b8 G A 17: 34,246,552 (GRCm39) probably benign Het
Idi1 T A 13: 8,937,963 (GRCm39) C91* probably null Het
Itga11 A G 9: 62,662,478 (GRCm39) I484V probably benign Het
Larp4 G A 15: 99,870,898 (GRCm39) probably benign Het
Mink1 T C 11: 70,495,970 (GRCm39) L390P probably damaging Het
Morc1 T G 16: 48,322,715 (GRCm39) S337R probably benign Het
Myo10 A G 15: 25,786,026 (GRCm39) R1236G probably damaging Het
Nkx3-1 T C 14: 69,429,396 (GRCm39) I138T possibly damaging Het
Nnt T C 13: 119,502,936 (GRCm39) N489S probably damaging Het
Nrcam A T 12: 44,617,136 (GRCm39) I711F probably benign Het
Ntrk3 A G 7: 78,227,522 (GRCm39) S4P probably damaging Het
Obsl1 T C 1: 75,464,607 (GRCm39) T1605A possibly damaging Het
Or1j17 A G 2: 36,578,655 (GRCm39) I214V possibly damaging Het
Or7g32 A G 9: 19,408,557 (GRCm39) E171G probably benign Het
Pank1 T C 19: 34,856,316 (GRCm39) H54R probably benign Het
Pgm2l1 A G 7: 99,917,472 (GRCm39) I530V probably benign Het
Psmd2 A G 16: 20,480,405 (GRCm39) T709A probably benign Het
Qsox1 G T 1: 155,688,581 (GRCm39) probably benign Het
Rbm14 A G 19: 4,852,823 (GRCm39) S520P probably benign Het
Rbm15b G A 9: 106,762,120 (GRCm39) R683C probably benign Het
Rhbdd2 T A 5: 135,664,876 (GRCm39) V69D probably damaging Het
Sart1 T C 19: 5,438,576 (GRCm39) E27G possibly damaging Het
Scn4a G A 11: 106,239,553 (GRCm39) P153L probably damaging Het
Serpinb6d A T 13: 33,855,230 (GRCm39) R301S probably benign Het
Sf3a2 C A 10: 80,640,275 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,767 (GRCm39) D400G probably benign Het
Tenm2 T C 11: 35,915,460 (GRCm39) S2025G possibly damaging Het
Ttc16 A T 2: 32,657,988 (GRCm39) D476E probably damaging Het
Ttc9c A T 19: 8,793,396 (GRCm39) C81* probably null Het
Ulk2 G A 11: 61,694,488 (GRCm39) P474L probably damaging Het
Vmn1r66 A G 7: 10,008,722 (GRCm39) C104R probably damaging Het
Vwa2 C T 19: 56,897,752 (GRCm39) H686Y probably damaging Het
Other mutations in Kpna3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Kpna3 APN 14 61,611,737 (GRCm39) missense possibly damaging 0.94
IGL00321:Kpna3 APN 14 61,629,302 (GRCm39) splice site probably benign
IGL01013:Kpna3 APN 14 61,607,966 (GRCm39) missense probably damaging 1.00
IGL01833:Kpna3 APN 14 61,607,894 (GRCm39) missense possibly damaging 0.92
IGL02661:Kpna3 APN 14 61,610,398 (GRCm39) splice site probably benign
IGL03070:Kpna3 APN 14 61,608,231 (GRCm39) splice site probably benign
R1428:Kpna3 UTSW 14 61,620,669 (GRCm39) splice site probably benign
R1719:Kpna3 UTSW 14 61,624,926 (GRCm39) missense probably damaging 1.00
R1728:Kpna3 UTSW 14 61,605,150 (GRCm39) missense probably benign 0.00
R1760:Kpna3 UTSW 14 61,607,990 (GRCm39) missense probably benign 0.03
R1784:Kpna3 UTSW 14 61,605,150 (GRCm39) missense probably benign 0.00
R2107:Kpna3 UTSW 14 61,607,933 (GRCm39) missense possibly damaging 0.52
R4184:Kpna3 UTSW 14 61,605,624 (GRCm39) missense probably damaging 0.96
R4952:Kpna3 UTSW 14 61,607,838 (GRCm39) missense probably damaging 1.00
R5766:Kpna3 UTSW 14 61,640,463 (GRCm39) missense probably benign 0.07
R5887:Kpna3 UTSW 14 61,640,461 (GRCm39) missense probably benign 0.04
R5927:Kpna3 UTSW 14 61,622,096 (GRCm39) missense probably damaging 0.96
R7116:Kpna3 UTSW 14 61,605,635 (GRCm39) missense probably benign 0.32
R7615:Kpna3 UTSW 14 61,610,411 (GRCm39) missense possibly damaging 0.81
R7674:Kpna3 UTSW 14 61,605,086 (GRCm39) missense probably benign
R7799:Kpna3 UTSW 14 61,622,182 (GRCm39) missense probably damaging 1.00
R8115:Kpna3 UTSW 14 61,608,367 (GRCm39) missense probably damaging 1.00
R8239:Kpna3 UTSW 14 61,624,919 (GRCm39) missense probably damaging 1.00
R8896:Kpna3 UTSW 14 61,629,294 (GRCm39) missense probably benign 0.11
R9636:Kpna3 UTSW 14 61,624,903 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTCATAGGCAAATGGTGACTC -3'
(R):5'- TCCAGTTGAGTGCTGTGCAG -3'

Sequencing Primer
(F):5'- TATAGCTCAGTGCAGTGAACCTG -3'
(R):5'- CAGGCAGCAAGGTAAGAGAAAGC -3'
Posted On 2016-06-06