Incidental Mutation 'R0233:Kpna2'
ID 58914
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 038474-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R0233 (G1)
Quality Score 88
Status Validated
Chromosome 11
Chromosomal Location 106879455-106890351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106883457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 111 (S111G)
Ref Sequence ENSEMBL: ENSMUSP00000118679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018506] [ENSMUST00000106768] [ENSMUST00000124541] [ENSMUST00000140362] [ENSMUST00000144834] [ENSMUST00000145331]
AlphaFold P52293
Predicted Effect probably benign
Transcript: ENSMUST00000018506
AA Change: S92G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000018506
Gene: ENSMUSG00000018362
AA Change: S92G

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: ENSMUST00000106768
SMART Domains Protein: ENSMUSP00000102379
Gene: ENSMUSG00000018362

DomainStartEndE-ValueType
Pfam:IBB 5 79 4.9e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124541
AA Change: S92G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114636
Gene: ENSMUSG00000018362
AA Change: S92G

DomainStartEndE-ValueType
Pfam:IBB 5 99 5.7e-29 PFAM
Pfam:Arm 108 149 4.6e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140362
AA Change: S111G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000118679
Gene: ENSMUSG00000018362
AA Change: S111G

DomainStartEndE-ValueType
Pfam:IBB 24 118 9.7e-30 PFAM
Pfam:Arm 127 168 1.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144834
AA Change: S92G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121655
Gene: ENSMUSG00000018362
AA Change: S92G

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: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.4%
Validation Efficiency 99% (93/94)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,385,330 (GRCm39) S212P probably benign Het
A730018C14Rik A C 12: 112,381,864 (GRCm39) noncoding transcript Het
Acsf3 A G 8: 123,507,031 (GRCm39) Y108C probably damaging Het
Acsl1 A G 8: 46,966,606 (GRCm39) probably benign Het
Adad1 T A 3: 37,139,097 (GRCm39) I389N possibly damaging Het
Ankrd27 T C 7: 35,300,985 (GRCm39) L95P probably damaging Het
Ano5 T C 7: 51,185,218 (GRCm39) F46S possibly damaging Het
Ap2a1 T C 7: 44,565,397 (GRCm39) N114S probably damaging Het
Arap1 C T 7: 101,049,448 (GRCm39) S970L possibly damaging Het
Atad3a A T 4: 155,830,524 (GRCm39) S525T probably damaging Het
B4galnt1 T C 10: 127,006,780 (GRCm39) probably benign Het
Bltp1 T A 3: 37,002,712 (GRCm39) C1552* probably null Het
Cacna2d2 A T 9: 107,391,869 (GRCm39) I463F probably damaging Het
Casp6 T A 3: 129,699,624 (GRCm39) N34K probably damaging Het
Ccdc175 A T 12: 72,152,650 (GRCm39) F752I probably benign Het
Cdhr4 A G 9: 107,874,133 (GRCm39) I76V probably benign Het
Copa T C 1: 171,915,234 (GRCm39) probably null Het
Cox11 C T 11: 90,535,326 (GRCm39) T259I probably damaging Het
Cuzd1 C A 7: 130,913,545 (GRCm39) K357N possibly damaging Het
Dnah5 T A 15: 28,333,216 (GRCm39) F2206I probably damaging Het
Dnase2b T A 3: 146,288,305 (GRCm39) K263N probably benign Het
Dync1h1 T A 12: 110,607,414 (GRCm39) D2668E probably benign Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Fam124b T C 1: 80,190,703 (GRCm39) S227G probably damaging Het
Fam13b T A 18: 34,581,137 (GRCm39) Y675F probably damaging Het
Fgf21 T A 7: 45,264,721 (GRCm39) M4L probably benign Het
Flg2 T A 3: 93,109,104 (GRCm39) C377* probably null Het
Foxp2 T C 6: 15,409,752 (GRCm39) S451P probably damaging Het
Gli2 A T 1: 118,763,655 (GRCm39) S1499T probably damaging Het
Gm9920 A T 15: 54,975,857 (GRCm39) probably benign Het
Gpx5 T A 13: 21,471,573 (GRCm39) D210V probably damaging Het
H2-T5 A G 17: 36,478,361 (GRCm39) Y224H probably benign Het
Hoxb5 T A 11: 96,195,853 (GRCm39) S234T probably benign Het
Irf9 C A 14: 55,843,551 (GRCm39) N140K probably benign Het
Isg20 C A 7: 78,566,334 (GRCm39) D94E probably damaging Het
Isg20 C T 7: 78,564,243 (GRCm39) T50M probably damaging Het
Izumo1 T C 7: 45,273,592 (GRCm39) L115P probably damaging Het
Kdm3b G A 18: 34,942,473 (GRCm39) E655K probably damaging Het
Kdm5b T G 1: 134,532,372 (GRCm39) probably benign Het
Kifc3 A G 8: 95,828,100 (GRCm39) probably null Het
Krt73 A T 15: 101,710,451 (GRCm39) N94K probably benign Het
Lgmn G T 12: 102,366,248 (GRCm39) D247E probably damaging Het
Lilra6 C T 7: 3,917,935 (GRCm39) V70I possibly damaging Het
Lrig3 G A 10: 125,849,395 (GRCm39) probably null Het
Lrrc4 T C 6: 28,829,734 (GRCm39) H627R probably benign Het
Macf1 G A 4: 123,343,920 (GRCm39) probably benign Het
Nat9 C A 11: 115,074,234 (GRCm39) probably null Het
Nutm2 A G 13: 50,621,441 (GRCm39) D2G probably benign Het
Or10j3b A T 1: 173,043,868 (GRCm39) I217F probably benign Het
Or5h23 A T 16: 58,906,038 (GRCm39) D269E probably benign Het
Or5w8 A G 2: 87,688,096 (GRCm39) I192M probably benign Het
Parl G A 16: 20,106,657 (GRCm39) P184L probably damaging Het
Pdzd8 A T 19: 59,288,811 (GRCm39) M863K probably damaging Het
Phlda3 T C 1: 135,694,559 (GRCm39) S125P probably damaging Het
Pkd1l3 A T 8: 110,377,412 (GRCm39) R217* probably null Het
Plekhg5 T C 4: 152,196,676 (GRCm39) C695R probably damaging Het
Pramel24 A T 4: 143,452,633 (GRCm39) E21D possibly damaging Het
Prg4 T C 1: 150,329,298 (GRCm39) probably benign Het
Prkab1 A G 5: 116,159,711 (GRCm39) probably benign Het
Pyroxd1 A G 6: 142,300,356 (GRCm39) E162G possibly damaging Het
R3hcc1l G A 19: 42,571,360 (GRCm39) probably null Het
Rgs12 T A 5: 35,187,842 (GRCm39) S500T probably damaging Het
Ripor3 T C 2: 167,834,518 (GRCm39) D299G probably damaging Het
Robo4 T C 9: 37,313,977 (GRCm39) L76P probably damaging Het
Sbno1 T C 5: 124,514,289 (GRCm39) Y1302C probably damaging Het
Sec63 A G 10: 42,699,904 (GRCm39) I655V possibly damaging Het
Serpina11 T A 12: 103,946,729 (GRCm39) M389L probably benign Het
Sfswap C A 5: 129,631,607 (GRCm39) P745Q possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slitrk3 C T 3: 72,955,910 (GRCm39) S954N probably benign Het
Sorbs2 A G 8: 46,222,866 (GRCm39) T190A probably damaging Het
Sos2 A T 12: 69,664,104 (GRCm39) I460N probably benign Het
Spink7 T A 18: 62,727,423 (GRCm39) I34L probably benign Het
Srbd1 A G 17: 86,365,173 (GRCm39) S628P probably damaging Het
Srm G A 4: 148,677,829 (GRCm39) G156S probably damaging Het
Sulf2 T C 2: 165,927,589 (GRCm39) probably benign Het
Tmc4 T A 7: 3,669,866 (GRCm39) Y6F probably benign Het
Tmcc2 A G 1: 132,288,389 (GRCm39) F433L probably damaging Het
Tmprss13 T G 9: 45,248,398 (GRCm39) probably benign Het
Tnxb T C 17: 34,918,007 (GRCm39) F2307L probably benign Het
Tsr3 A G 17: 25,461,484 (GRCm39) E274G probably benign Het
Ttn T C 2: 76,725,488 (GRCm39) probably benign Het
Tub T C 7: 108,628,548 (GRCm39) V352A possibly damaging Het
Tubb2a A G 13: 34,259,325 (GRCm39) I155T possibly damaging Het
Ugt2a2 T C 5: 87,622,860 (GRCm39) N36S probably damaging Het
Usp13 T A 3: 32,969,813 (GRCm39) probably null Het
Vmn1r52 T G 6: 90,156,593 (GRCm39) L120R possibly damaging Het
Vmn2r11 A T 5: 109,201,968 (GRCm39) S179T probably benign Het
Vwf A T 6: 125,663,473 (GRCm39) R2805W possibly damaging Het
Wdr7 A G 18: 64,037,172 (GRCm39) T1199A probably benign Het
Zfp286 T C 11: 62,671,219 (GRCm39) T285A possibly damaging 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
R0016:Kpna2 UTSW 11 106,881,912 (GRCm39) missense probably benign
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'- GTGCCCAAGCAGACTCAAACTGAA -3'
(R):5'- TGAGAGCCTAAGTATCCTTACAATGCCA -3'

Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- agtgtagtggcaggaaaagg -3'
Posted On 2013-07-11