Incidental Mutation 'R7799:Kpna3'
ID 600450
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 045854-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.645) question?
Stock # R7799 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 61602660-61677323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61622182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 194 (Y194C)
Ref Sequence ENSEMBL: ENSMUSP00000022496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022496]
AlphaFold O35344
Predicted Effect probably damaging
Transcript: ENSMUST00000022496
AA Change: Y194C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022496
Gene: ENSMUSG00000021929
AA Change: Y194C

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: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (50/51)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,775,362 (GRCm39) V1517A probably benign Het
Adam17 C A 12: 21,390,493 (GRCm39) G410C probably damaging Het
Adcy3 A G 12: 4,254,762 (GRCm39) D698G probably damaging Het
Afap1 T A 5: 36,131,742 (GRCm39) N356K possibly damaging Het
Afm A G 5: 90,671,713 (GRCm39) N132D probably benign Het
Bsdc1 T A 4: 129,359,141 (GRCm39) probably null Het
Ccdc121rt2 T G 5: 112,597,698 (GRCm39) Y82D not run Het
Ccdc47 T C 11: 106,101,143 (GRCm39) E173G possibly damaging Het
Cit T G 5: 116,001,027 (GRCm39) F142C probably benign Het
Cnga3 A G 1: 37,300,852 (GRCm39) D524G probably damaging Het
Cpne8 T A 15: 90,424,450 (GRCm39) D313V probably damaging Het
Ell3 TCTCCTC TCTC 2: 121,269,937 (GRCm39) probably benign Het
Flrt1 C A 19: 7,073,229 (GRCm39) L439F possibly damaging Het
Gkn1 A T 6: 87,325,163 (GRCm39) I82N probably damaging Het
Gm14410 C A 2: 176,885,613 (GRCm39) C217F probably damaging Het
Gm14412 G T 2: 177,007,590 (GRCm39) H102N probably benign Het
Gm3159 A T 14: 4,397,585 (GRCm38) probably benign Het
Golm2 T C 2: 121,764,022 (GRCm39) V434A probably benign Het
Helz2 A G 2: 180,879,782 (GRCm39) M612T probably benign Het
Iars1 T A 13: 49,876,494 (GRCm39) I853N probably damaging Het
Kcna4 A C 2: 107,126,237 (GRCm39) I324L possibly damaging Het
Kcnh1 T C 1: 192,117,183 (GRCm39) S690P probably damaging Het
Lrrc56 T C 7: 140,789,515 (GRCm39) S511P probably damaging Het
Ltbp1 A G 17: 75,559,351 (GRCm39) Y280C probably damaging Het
Macf1 A G 4: 123,420,906 (GRCm39) I116T probably benign Het
Mmp16 A T 4: 18,112,112 (GRCm39) N496I probably damaging Het
Mon2 T C 10: 122,878,236 (GRCm39) D229G probably benign Het
Or2b2 T A 13: 21,887,369 (GRCm39) L66Q probably damaging Het
Or2j6 A T 7: 139,980,377 (GRCm39) M194K probably damaging Het
Or52s1 A G 7: 102,861,186 (GRCm39) I40V probably benign Het
Or5p61 T A 7: 107,758,637 (GRCm39) I148F probably benign Het
Or5w14 G T 2: 87,541,428 (GRCm39) T274K possibly damaging Het
Pkp1 A G 1: 135,817,695 (GRCm39) F147L possibly damaging Het
Ppp1r3e T C 14: 55,114,672 (GRCm39) Q30R probably damaging Het
Ppp2r5b C A 19: 6,282,628 (GRCm39) R174L probably benign Het
Pramel58 A G 5: 94,831,287 (GRCm39) D98G possibly damaging Het
Qrfprl G T 6: 65,433,121 (GRCm39) A314S possibly damaging Het
Rbm15 C T 3: 107,239,459 (GRCm39) R313H probably damaging Het
Rgs18 A G 1: 144,629,603 (GRCm39) F219L probably damaging Het
Ryr1 T C 7: 28,702,985 (GRCm39) probably null Het
Sirpd T A 3: 15,361,723 (GRCm39) probably null Het
Sirt4 T G 5: 115,617,805 (GRCm39) I284L probably benign Het
Slc25a11 A G 11: 70,536,005 (GRCm39) V243A probably benign Het
Syde1 A G 10: 78,425,741 (GRCm39) I142T probably benign Het
Synj2 A G 17: 6,088,098 (GRCm39) E1383G probably benign Het
Syt4 A T 18: 31,573,245 (GRCm39) C423* probably null Het
Tfr2 T A 5: 137,569,986 (GRCm39) Y131N possibly damaging Het
Tgm1 C T 14: 55,949,932 (GRCm39) R92Q unknown Het
Thoc1 A T 18: 9,984,441 (GRCm39) D309V probably damaging Het
Vmn2r24 C T 6: 123,757,422 (GRCm39) H97Y probably benign Het
Wbp1 A T 6: 83,097,176 (GRCm39) Y89* probably null Het
Wnk1 A G 6: 119,926,137 (GRCm39) L1358P probably benign Het
Zfp14 T C 7: 29,738,368 (GRCm39) T206A possibly damaging Het
Zfp748 T C 13: 67,689,608 (GRCm39) T551A probably benign Het
Zfp9 A T 6: 118,441,843 (GRCm39) V273E 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
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
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
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'- AAACCATCTCGCCTTACAATTCTG -3'
(R):5'- GCATAGCCATTACACACTATGTTTC -3'

Sequencing Primer
(F):5'- ACAATTCTGCATTTACCTCCTGAAC -3'
(R):5'- GTGGTTAAATTTGTGTTCCCCAAATC -3'
Posted On 2019-11-26