Incidental Mutation 'R7116:Kpna3'
ID 551796
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 045207-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.645) question?
Stock # R7116 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 61602660-61677323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 61605635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 470 (N470I)
Ref Sequence ENSEMBL: ENSMUSP00000022496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022496]
AlphaFold O35344
Predicted Effect probably benign
Transcript: ENSMUST00000022496
AA Change: N470I

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000022496
Gene: ENSMUSG00000021929
AA Change: N470I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,251,751 (GRCm39) S109P probably damaging Het
Afg3l1 T G 8: 124,216,601 (GRCm39) L280R probably damaging Het
Akap13 T A 7: 75,369,943 (GRCm39) S129T probably benign Het
Ankrd11 A G 8: 123,622,869 (GRCm39) S328P probably damaging Het
Aox3 A T 1: 58,192,689 (GRCm39) E554D probably benign Het
Bcl11a T C 11: 24,113,839 (GRCm39) V394A probably damaging Het
Cass4 A G 2: 172,269,889 (GRCm39) Y657C unknown Het
Ccdc88a C T 11: 29,454,051 (GRCm39) A1738V probably benign Het
Cfap74 T C 4: 155,539,518 (GRCm39) F948L unknown Het
Chgb A T 2: 132,623,237 (GRCm39) probably benign Het
Coro1c C T 5: 113,990,267 (GRCm39) W138* probably null Het
Dgkb A G 12: 38,031,989 (GRCm39) Q17R probably benign Het
Esco2 A G 14: 66,064,006 (GRCm39) Y393H probably damaging Het
Eya3 T A 4: 132,422,110 (GRCm39) D228E probably benign Het
Fat2 T C 11: 55,173,162 (GRCm39) D2517G probably damaging Het
Fry T A 5: 150,319,334 (GRCm39) probably null Het
Gal3st2b A T 1: 93,868,498 (GRCm39) Q243L possibly damaging Het
Gimap9 C T 6: 48,654,989 (GRCm39) A192V probably benign Het
Glg1 T A 8: 111,905,589 (GRCm39) Q564L probably benign Het
H2-Aa A T 17: 34,502,601 (GRCm39) Y188* probably null Het
Hira T C 16: 18,730,864 (GRCm39) Y188H probably damaging Het
Ighv8-8 C T 12: 115,257,814 (GRCm39) D76N probably benign Het
Irf6 T C 1: 192,849,905 (GRCm39) F276L probably damaging Het
Itpr1 T C 6: 108,458,229 (GRCm39) C2000R probably damaging Het
Jakmip3 T C 7: 138,621,979 (GRCm39) V293A possibly damaging Het
Kcnh7 A G 2: 62,707,614 (GRCm39) V132A probably benign Het
Kcnj1 A G 9: 32,308,277 (GRCm39) T234A possibly damaging Het
Lamb2 T C 9: 108,364,522 (GRCm39) F1121L probably damaging Het
Lingo1 T C 9: 56,527,911 (GRCm39) D232G probably benign Het
Lpxn T A 19: 12,788,622 (GRCm39) N70K probably benign Het
Ltbp4 T A 7: 27,004,852 (GRCm39) H1657L probably damaging Het
Luzp2 C A 7: 54,915,078 (GRCm39) F334L possibly damaging Het
Mgat5b A T 11: 116,835,785 (GRCm39) S142C possibly damaging Het
Mroh7 G A 4: 106,568,517 (GRCm39) T396I probably benign Het
Muc5b T C 7: 141,417,487 (GRCm39) S3478P probably benign Het
Nfatc2 A T 2: 168,349,269 (GRCm39) M626K probably benign Het
Nlrp14 A G 7: 106,782,255 (GRCm39) D484G possibly damaging Het
Npc1 T C 18: 12,344,601 (GRCm39) Y423C probably damaging Het
Nrsn1 A G 13: 25,437,388 (GRCm39) I180T probably damaging Het
Or11g25 A T 14: 50,723,025 (GRCm39) I37F probably benign Het
Or51a8 T A 7: 102,549,842 (GRCm39) N89K probably benign Het
Osbpl6 A T 2: 76,426,225 (GRCm39) I935F probably benign Het
Otog T C 7: 45,947,689 (GRCm39) F96L probably damaging Het
Pde1b T C 15: 103,436,745 (GRCm39) L534P possibly damaging Het
Pdzd8 C T 19: 59,288,125 (GRCm39) E1092K probably damaging Het
Pfkl T C 10: 77,837,249 (GRCm39) H108R probably benign Het
Pkhd1l1 G A 15: 44,421,372 (GRCm39) V3047I probably benign Het
Plag1 A T 4: 3,904,812 (GRCm39) C126* probably null Het
Pphln1 T A 15: 93,353,406 (GRCm39) S229T probably benign Het
Pramel5 C T 4: 144,000,451 (GRCm39) D42N possibly damaging Het
Psd3 A G 8: 68,166,390 (GRCm39) V915A probably benign Het
Ptdss1 T A 13: 67,093,391 (GRCm39) I77N probably benign Het
Rsbn1 T A 3: 103,821,892 (GRCm39) C3* probably null Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Sv2c A T 13: 96,113,152 (GRCm39) V599E probably damaging Het
Vmn2r37 T C 7: 9,220,898 (GRCm39) T322A probably benign Het
Vmn2r60 T A 7: 41,786,487 (GRCm39) M430K probably benign Het
Wipf3 T A 6: 54,458,904 (GRCm39) probably null 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
R5081:Kpna3 UTSW 14 61,628,694 (GRCm39) missense probably damaging 0.97
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
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'- TCTGCAGAAGTCCTTAACCTATCTG -3'
(R):5'- ACTTACTGGGCTGCTGGTTAAG -3'

Sequencing Primer
(F):5'- AAGTCCTTAACCTATCTGAACATTTC -3'
(R):5'- ACTGGGCTGCTGGTTAAGTTTTTATC -3'
Posted On 2019-05-15