Incidental Mutation 'R0016:Kpna2'
ID 98856
Institutional Source Beutler Lab
Gene Symbol Kpna2
Ensembl Gene ENSMUSG00000018362
Gene Name karyopherin subunit alpha 2
Synonyms 2410044B12Rik, Importin alpha, m-importin, pendulin, m-importin-alpha-P1, Rch1, importin alpha 1
MMRRC Submission 038311-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R0016 (G1)
Quality Score 78
Status Validated (trace)
Chromosome 11
Chromosomal Location 106879455-106890351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106881912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 305 (T305A)
Ref Sequence ENSEMBL: ENSMUSP00000018506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018506] [ENSMUST00000124541] [ENSMUST00000140362] [ENSMUST00000144834] [ENSMUST00000145331]
AlphaFold P52293
Predicted Effect probably benign
Transcript: ENSMUST00000018506
AA Change: T305A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018506
Gene: ENSMUSG00000018362
AA Change: T305A

DomainStartEndE-ValueType
Pfam:IBB 9 98 2.8e-32 PFAM
ARM 108 149 8.95e-7 SMART
ARM 151 191 1.33e-9 SMART
ARM 193 231 2.7e-1 SMART
ARM 241 280 1.74e-4 SMART
ARM 282 322 1.92e-6 SMART
ARM 324 364 2.76e-7 SMART
ARM 366 406 3.45e-8 SMART
ARM 409 449 2.17e-5 SMART
Pfam:Arm_3 458 509 3.6e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124541
SMART Domains Protein: ENSMUSP00000114636
Gene: ENSMUSG00000018362

DomainStartEndE-ValueType
Pfam:IBB 5 99 5.7e-29 PFAM
Pfam:Arm 108 149 4.6e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140362
SMART Domains Protein: ENSMUSP00000118679
Gene: ENSMUSG00000018362

DomainStartEndE-ValueType
Pfam:IBB 24 118 9.7e-30 PFAM
Pfam:Arm 127 168 1.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144834
SMART Domains Protein: ENSMUSP00000121655
Gene: ENSMUSG00000018362

DomainStartEndE-ValueType
Pfam:IBB 5 99 5.1e-29 PFAM
Pfam:Arm 108 149 4.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145331
SMART Domains Protein: ENSMUSP00000122983
Gene: ENSMUSG00000018362

DomainStartEndE-ValueType
Pfam:IBB 5 74 1.9e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156495
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.2%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A C 1: 71,333,959 (GRCm39) V1181G probably benign Het
Adamts12 A T 15: 11,217,915 (GRCm39) I291F probably damaging Het
Aspm G C 1: 139,407,282 (GRCm39) Q2056H probably benign Het
C7 A T 15: 5,076,406 (GRCm39) V122E probably benign Het
Casp12 A T 9: 5,352,844 (GRCm39) Q152L probably null Het
Cdh16 T A 8: 105,344,264 (GRCm39) T92S probably benign Het
Chrd G C 16: 20,553,058 (GRCm39) V162L possibly damaging Het
Cpne8 A G 15: 90,385,608 (GRCm39) probably benign Het
Cspg4b T C 13: 113,502,639 (GRCm39) Y115H probably damaging Het
Cyp2j7 T A 4: 96,090,384 (GRCm39) I347F probably damaging Het
Cyp4a10 A T 4: 115,378,304 (GRCm39) Q130L probably damaging Het
Dach1 C T 14: 98,406,184 (GRCm39) G188R probably damaging Het
Dgkd T C 1: 87,845,674 (GRCm39) S294P probably benign Het
Dnah8 A G 17: 30,882,290 (GRCm39) I621V probably benign Het
Dync2h1 A G 9: 7,144,346 (GRCm39) probably benign Het
Echdc1 A T 10: 29,198,417 (GRCm39) probably benign Het
Elovl3 T A 19: 46,120,597 (GRCm39) F30Y probably damaging Het
Fa2h T C 8: 112,120,146 (GRCm39) Y80C probably damaging Het
Fgd3 C T 13: 49,450,085 (GRCm39) D55N probably benign Het
Fhod1 T C 8: 106,058,287 (GRCm39) E823G possibly damaging Het
Gapvd1 A G 2: 34,589,925 (GRCm39) probably benign Het
Gm17067 A T 7: 42,358,046 (GRCm39) I152K probably benign Het
Gvin3 G A 7: 106,202,453 (GRCm39) L264F probably benign Het
Kif27 A G 13: 58,502,528 (GRCm39) V50A probably damaging Het
Krtap22-2 A G 16: 88,807,407 (GRCm39) probably benign Het
Lrp2bp T A 8: 46,465,068 (GRCm39) F62L probably damaging Het
Marf1 G A 16: 13,970,129 (GRCm39) H197Y probably damaging Het
Mob3b A G 4: 35,083,947 (GRCm39) F81L probably benign Het
Mon2 C T 10: 122,871,451 (GRCm39) V389M probably damaging Het
Myef2l A T 3: 10,154,379 (GRCm39) M383L possibly damaging Het
Myh8 A G 11: 67,189,351 (GRCm39) K1176E probably damaging Het
Naf1 T C 8: 67,341,707 (GRCm39) probably benign Het
Nckap1l A G 15: 103,384,063 (GRCm39) T554A probably benign Het
Oog3 A G 4: 143,884,641 (GRCm39) Y432H probably damaging Het
Paxbp1 A T 16: 90,832,924 (GRCm39) probably benign Het
Phf20 A T 2: 156,109,114 (GRCm39) K154* probably null Het
Pip4p1 C T 14: 51,166,351 (GRCm39) R213Q probably damaging Het
Plekhj1 T C 10: 80,632,250 (GRCm39) D74G possibly damaging Het
Plpp4 T C 7: 128,925,148 (GRCm39) C128R probably damaging Het
Rcan3 A T 4: 135,145,689 (GRCm39) probably null Het
Sh3rf1 T A 8: 61,827,172 (GRCm39) M642K probably benign Het
Slc7a1 A G 5: 148,271,393 (GRCm39) V522A probably benign Het
Sorbs1 A G 19: 40,303,182 (GRCm39) probably benign Het
Spry2 C T 14: 106,130,731 (GRCm39) V152M probably benign Het
Srgap2 A G 1: 131,277,200 (GRCm39) M349T possibly damaging Het
Stag3 A G 5: 138,289,643 (GRCm39) H271R possibly damaging Het
Stat4 T C 1: 52,107,939 (GRCm39) V136A probably benign Het
Stc2 A T 11: 31,310,177 (GRCm39) D286E probably benign Het
Stk31 T C 6: 49,414,311 (GRCm39) Y482H probably damaging Het
Tasor2 A C 13: 3,635,170 (GRCm39) probably null Het
Ticrr C T 7: 79,343,540 (GRCm39) P1135L probably benign Het
Trim27 A T 13: 21,375,399 (GRCm39) E310V probably benign Het
Uvrag T C 7: 98,641,188 (GRCm39) K284R probably benign Het
Vmn1r78 A C 7: 11,887,279 (GRCm39) S297R probably benign Het
Xylt2 A G 11: 94,560,466 (GRCm39) S270P probably damaging Het
Zfhx3 T C 8: 109,676,810 (GRCm39) M2620T probably benign Het
Zkscan2 C A 7: 123,099,219 (GRCm39) probably benign Het
Zwint T C 10: 72,493,030 (GRCm39) probably benign Het
Other mutations in Kpna2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01542:Kpna2 APN 11 106,882,027 (GRCm39) missense probably benign 0.01
IGL02985:Kpna2 APN 11 106,880,163 (GRCm39) missense probably benign 0.11
R0233:Kpna2 UTSW 11 106,883,457 (GRCm39) missense probably benign 0.03
R0359:Kpna2 UTSW 11 106,882,148 (GRCm39) missense probably damaging 1.00
R1450:Kpna2 UTSW 11 106,888,135 (GRCm39) missense probably benign 0.05
R1750:Kpna2 UTSW 11 106,882,271 (GRCm39) missense probably damaging 0.99
R4751:Kpna2 UTSW 11 106,883,490 (GRCm39) missense possibly damaging 0.85
R4762:Kpna2 UTSW 11 106,881,085 (GRCm39) missense probably benign 0.04
R4911:Kpna2 UTSW 11 106,881,545 (GRCm39) missense probably damaging 1.00
R4952:Kpna2 UTSW 11 106,882,061 (GRCm39) missense probably damaging 1.00
R4976:Kpna2 UTSW 11 106,882,295 (GRCm39) missense probably damaging 1.00
R5283:Kpna2 UTSW 11 106,881,658 (GRCm39) missense probably damaging 1.00
R5564:Kpna2 UTSW 11 106,881,571 (GRCm39) missense probably damaging 1.00
R6870:Kpna2 UTSW 11 106,883,520 (GRCm39) splice site probably null
R7599:Kpna2 UTSW 11 106,889,583 (GRCm39) missense probably null
R7606:Kpna2 UTSW 11 106,882,884 (GRCm39) missense probably damaging 0.99
R7672:Kpna2 UTSW 11 106,879,789 (GRCm39) missense probably benign 0.00
R9063:Kpna2 UTSW 11 106,883,489 (GRCm39) missense probably benign 0.03
R9067:Kpna2 UTSW 11 106,882,039 (GRCm39) missense possibly damaging 0.94
R9221:Kpna2 UTSW 11 106,880,158 (GRCm39) missense probably damaging 1.00
R9352:Kpna2 UTSW 11 106,880,292 (GRCm39) missense probably damaging 0.96
R9668:Kpna2 UTSW 11 106,881,541 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGACTGCAAGTGCTCCTGCATC -3'
(R):5'- ACGCCGTTGAGCAGATTCTTCC -3'

Sequencing Primer
(F):5'- AGTGACAATATTCCCTATGGCTC -3'
(R):5'- TGAGCAGATTCTTCCTACGTTAG -3'
Posted On 2014-01-10