Incidental Mutation 'R9119:Kpna2rt'
ID 692702
Institutional Source Beutler Lab
Gene Symbol Kpna2rt
Ensembl Gene ENSMUSG00000066878
Gene Name karyopherin subunit alpha 2, retrotransposed
Synonyms Gm10184
MMRRC Submission 068922-MU
Accession Numbers
Essential gene? Not available question?
Stock # R9119 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 90215903-90217875 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90217621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 42 (K42E)
Ref Sequence ENSEMBL: ENSMUSP00000137310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086423]
AlphaFold no structure available at present
PDB Structure MOUSE IMPORTIN ALPHA-SV40 LARGE T ANTIGEN NLS PEPTIDE COMPLEX [X-RAY DIFFRACTION]
MOUSE IMPORTIN ALPHA-NUCLEOPLASMIN NLS PEPTIDE COMPLEX [X-RAY DIFFRACTION]
IMPORTIN ALPHA, MOUSE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE IMPORTIN-ALPHA(44-54)-IMPORTIN-ALPHA(70-529) COMPLEX [X-RAY DIFFRACTION]
Mouse Importin alpha-bipartite NLS from human retinoblastoma protein Complex [X-RAY DIFFRACTION]
Mouse Importin alpha-bipartite NLS N1N2 from Xenopus laevis phosphoprotein Complex [X-RAY DIFFRACTION]
Mouse Importin alpha- phosphorylated SV40 CN peptide complex [X-RAY DIFFRACTION]
Mouse Importin alpha: non-phosphorylated SV40 CN peptide complex [X-RAY DIFFRACTION]
Structure of mammalian importin bound to the non-classical PLSCR1-NLS [X-RAY DIFFRACTION]
NUP50:IMPORTIN-ALPHA COMPLEX [X-RAY DIFFRACTION]
>> 29 additional structures at PDB <<
Predicted Effect probably damaging
Transcript: ENSMUST00000086423
AA Change: K42E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000137310
Gene: ENSMUSG00000066878
AA Change: K42E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik C G 17: 36,203,963 (GRCm39) S185T probably benign Het
Aass A T 6: 23,094,000 (GRCm39) M517K probably benign Het
Abcc4 A G 14: 118,868,442 (GRCm39) V245A probably benign Het
Adgrv1 A G 13: 81,658,995 (GRCm39) V2783A probably damaging Het
Anxa3 T A 5: 96,976,557 (GRCm39) I181N Het
Ap4m1 T A 5: 138,174,303 (GRCm39) probably benign Het
C1ql1 T A 11: 102,836,879 (GRCm39) K137* probably null Het
Camkmt T A 17: 85,403,988 (GRCm39) L70Q probably damaging Het
Ceacam18 T C 7: 43,288,909 (GRCm39) L220P probably benign Het
Celsr2 C T 3: 108,309,288 (GRCm39) A1656T possibly damaging Het
Dnah6 T C 6: 73,037,186 (GRCm39) N3352S possibly damaging Het
Fbxo40 C A 16: 36,786,457 (GRCm39) R704L probably damaging Het
Fcho1 C T 8: 72,164,712 (GRCm39) G523E possibly damaging Het
Gas2l3 T C 10: 89,249,319 (GRCm39) T600A possibly damaging Het
Ggh T A 4: 20,057,955 (GRCm39) M172K probably damaging Het
Gpr137 G A 19: 6,915,811 (GRCm39) T373I probably benign Het
Mtnr1a G A 8: 45,541,003 (GRCm39) M321I probably benign Het
Nebl T G 2: 17,405,370 (GRCm39) N383T probably damaging Het
Nob1 A G 8: 108,142,776 (GRCm39) S302P probably damaging Het
Ofcc1 A T 13: 40,334,016 (GRCm39) H358Q probably benign Het
Or6b3 G T 1: 92,438,904 (GRCm39) T282K probably damaging Het
Pkd1l1 G A 11: 8,829,107 (GRCm39) T1495I Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plcb4 G A 2: 135,809,872 (GRCm39) E609K probably damaging Het
Plxnd1 A T 6: 115,932,832 (GRCm39) probably benign Het
Prdm2 G A 4: 142,858,449 (GRCm39) Q1614* probably null Het
Psg21 T G 7: 18,381,409 (GRCm39) K378T probably benign Het
Ptprh T A 7: 4,555,712 (GRCm39) N749I probably benign Het
Ric8b T G 10: 84,783,334 (GRCm39) V64G possibly damaging Het
Sbf2 T C 7: 109,911,292 (GRCm39) T1793A possibly damaging Het
Scgb1c1 A G 7: 140,426,135 (GRCm39) H77R probably null Het
Sfswap C A 5: 129,591,829 (GRCm39) T282N probably benign Het
Sorcs3 A T 19: 48,642,433 (GRCm39) Y362F possibly damaging Het
Spata31h1 T C 10: 82,131,553 (GRCm39) T486A probably benign Het
Tpm4 A G 8: 72,892,525 (GRCm39) N76D probably benign Het
Tpr T A 1: 150,279,753 (GRCm39) L294Q probably damaging Het
Ttc3 C T 16: 94,192,950 (GRCm39) T237I probably damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ugt2a2 A G 5: 87,610,834 (GRCm39) V334A probably damaging Het
Usp38 A T 8: 81,711,228 (GRCm39) F936I probably damaging Het
Utp14b A G 1: 78,643,025 (GRCm39) K308E probably damaging Het
Vmn2r19 C T 6: 123,292,527 (GRCm39) P190S possibly damaging Het
Zbbx T C 3: 74,985,897 (GRCm39) E385G probably damaging Het
Other mutations in Kpna2rt
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1521:Kpna2rt UTSW 17 90,217,734 (GRCm39) missense possibly damaging 0.85
R2327:Kpna2rt UTSW 17 90,217,697 (GRCm39) missense probably benign 0.33
R5638:Kpna2rt UTSW 17 90,217,635 (GRCm39) missense probably damaging 1.00
R7242:Kpna2rt UTSW 17 90,217,563 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- AAACCAGCCCGGATGATGTTG -3'
(R):5'- GAAATCTGAGCCGGCTGTAC -3'

Sequencing Primer
(F):5'- AGCAATTTCCGAGCAGCTTG -3'
(R):5'- GTACAGCTTTCCTCCTTGTTCCTG -3'
Posted On 2021-12-30