Incidental Mutation 'R2471:Ipo5'
ID 253121
Institutional Source Beutler Lab
Gene Symbol Ipo5
Ensembl Gene ENSMUSG00000030662
Gene Name importin 5
Synonyms 1110011C18Rik, RanBP5, Kpnb3, importin beta 3, IMB3, 5730478E03Rik
MMRRC Submission 040403-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.919) question?
Stock # R2471 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 121148636-121185411 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 121159574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 134 (K134T)
Ref Sequence ENSEMBL: ENSMUSP00000032898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032898]
AlphaFold Q8BKC5
Predicted Effect probably benign
Transcript: ENSMUST00000032898
AA Change: K134T

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000032898
Gene: ENSMUSG00000030662
AA Change: K134T

DomainStartEndE-ValueType
low complexity region 65 72 N/A INTRINSIC
Pfam:HEAT_2 359 467 3.3e-13 PFAM
Pfam:HEAT_EZ 372 426 3.7e-10 PFAM
Pfam:Vac14_Fab1_bd 373 430 3.8e-9 PFAM
Pfam:HEAT 400 430 4.2e-7 PFAM
Pfam:HEAT 906 936 4.2e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227270
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228277
Meta Mutation Damage Score 0.1297 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(33) : Targeted, other(2) Gene trapped(31)

Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A T 9: 55,888,147 (GRCm39) M390K probably benign Het
Bicra A G 7: 15,706,257 (GRCm39) S1395P probably benign Het
Cacnb2 G A 2: 14,989,125 (GRCm39) D402N probably damaging Het
Csmd1 T A 8: 16,261,776 (GRCm39) D907V probably damaging Het
Cstl1 T A 2: 148,593,041 (GRCm39) Y65* probably null Het
Dnajc1 T C 2: 18,224,627 (GRCm39) I213V possibly damaging Het
Emcn C T 3: 137,109,772 (GRCm39) T138M probably damaging Het
F3 G T 3: 121,518,689 (GRCm39) W51L probably damaging Het
Far2 A G 6: 148,040,192 (GRCm39) Y41C probably damaging Het
Flrt1 A T 19: 7,073,856 (GRCm39) D230E probably damaging Het
Gimap7 G A 6: 48,700,986 (GRCm39) V191M probably damaging Het
Gm19402 A T 10: 77,526,354 (GRCm39) probably benign Het
Kcnf1 T C 12: 17,225,531 (GRCm39) E230G probably damaging Het
Mad1l1 T C 5: 140,247,307 (GRCm39) E340G probably benign Het
Map4k5 T C 12: 69,903,620 (GRCm39) I62V probably benign Het
Marchf7 A G 2: 60,067,244 (GRCm39) K588R possibly damaging Het
Mctp2 T A 7: 71,810,909 (GRCm39) K52* probably null Het
Nr1h4 A T 10: 89,309,756 (GRCm39) F310L probably damaging Het
Ofcc1 G A 13: 40,250,501 (GRCm39) S605F probably damaging Het
Or2w1b A T 13: 21,300,599 (GRCm39) T246S probably damaging Het
Or5ac25 A T 16: 59,181,944 (GRCm39) S212R possibly damaging Het
Or5b97 G A 19: 12,878,679 (GRCm39) T155I probably benign Het
Pcdh20 T G 14: 88,704,672 (GRCm39) E876A probably benign Het
Plce1 C T 19: 38,768,370 (GRCm39) A2215V probably damaging Het
Ptprg T C 14: 12,210,327 (GRCm38) Y128H probably damaging Het
Sigirr A G 7: 140,672,510 (GRCm39) L204S probably damaging Het
Slc2a12 A T 10: 22,540,706 (GRCm39) Y187F probably damaging Het
Slc31a2 A T 4: 62,214,312 (GRCm39) R86W probably null Het
Smc1b T C 15: 84,976,218 (GRCm39) K830E probably damaging Het
Ssrp1 A G 2: 84,872,642 (GRCm39) N427D possibly damaging Het
Taar9 A T 10: 23,985,289 (GRCm39) F48L probably benign Het
Taok2 T C 7: 126,474,272 (GRCm39) E319G probably damaging Het
Try10 T C 6: 41,333,680 (GRCm39) S142P probably damaging Het
Tsc22d1 A G 14: 76,655,644 (GRCm39) T626A probably benign Het
Zfp101 T C 17: 33,599,950 (GRCm39) E602G possibly damaging Het
Other mutations in Ipo5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01461:Ipo5 APN 14 121,165,945 (GRCm39) missense probably damaging 0.98
IGL01614:Ipo5 APN 14 121,172,507 (GRCm39) missense probably benign 0.01
IGL01835:Ipo5 APN 14 121,163,650 (GRCm39) missense probably benign 0.24
IGL02010:Ipo5 APN 14 121,170,789 (GRCm39) missense probably benign 0.20
IGL02303:Ipo5 APN 14 121,154,795 (GRCm39) missense probably benign
IGL02344:Ipo5 APN 14 121,180,191 (GRCm39) splice site probably benign
IGL02657:Ipo5 APN 14 121,181,212 (GRCm39) missense possibly damaging 0.47
IGL03094:Ipo5 APN 14 121,181,089 (GRCm39) splice site probably benign
IGL03158:Ipo5 APN 14 121,179,303 (GRCm39) splice site probably benign
IGL03309:Ipo5 APN 14 121,157,416 (GRCm39) missense probably benign
IGL03392:Ipo5 APN 14 121,180,099 (GRCm39) missense probably damaging 0.99
3-1:Ipo5 UTSW 14 121,170,348 (GRCm39) missense probably benign 0.41
PIT4544001:Ipo5 UTSW 14 121,165,949 (GRCm39) missense probably damaging 0.99
R0326:Ipo5 UTSW 14 121,159,635 (GRCm39) missense probably benign 0.19
R0505:Ipo5 UTSW 14 121,180,145 (GRCm39) missense possibly damaging 0.74
R0559:Ipo5 UTSW 14 121,176,053 (GRCm39) missense probably damaging 1.00
R0590:Ipo5 UTSW 14 121,181,769 (GRCm39) missense possibly damaging 0.76
R0969:Ipo5 UTSW 14 121,181,937 (GRCm39) missense possibly damaging 0.64
R1450:Ipo5 UTSW 14 121,181,805 (GRCm39) missense probably benign 0.04
R1672:Ipo5 UTSW 14 121,170,714 (GRCm39) missense probably damaging 1.00
R3508:Ipo5 UTSW 14 121,176,956 (GRCm39) missense probably damaging 1.00
R3696:Ipo5 UTSW 14 121,159,574 (GRCm39) missense probably benign 0.12
R4118:Ipo5 UTSW 14 121,176,073 (GRCm39) missense probably benign 0.04
R4418:Ipo5 UTSW 14 121,181,305 (GRCm39) missense possibly damaging 0.81
R4760:Ipo5 UTSW 14 121,179,054 (GRCm39) missense probably benign 0.02
R4839:Ipo5 UTSW 14 121,157,450 (GRCm39) missense probably benign 0.00
R4913:Ipo5 UTSW 14 121,172,498 (GRCm39) missense probably damaging 1.00
R5326:Ipo5 UTSW 14 121,163,683 (GRCm39) missense probably benign
R5339:Ipo5 UTSW 14 121,181,122 (GRCm39) missense probably damaging 1.00
R5483:Ipo5 UTSW 14 121,157,450 (GRCm39) missense probably benign 0.06
R5542:Ipo5 UTSW 14 121,163,683 (GRCm39) missense probably benign
R5579:Ipo5 UTSW 14 121,176,025 (GRCm39) missense probably benign 0.26
R5954:Ipo5 UTSW 14 121,157,396 (GRCm39) missense probably damaging 1.00
R6948:Ipo5 UTSW 14 121,160,527 (GRCm39) missense probably benign 0.00
R7365:Ipo5 UTSW 14 121,157,497 (GRCm39) missense probably benign
R7563:Ipo5 UTSW 14 121,183,567 (GRCm39) missense probably benign 0.00
R7782:Ipo5 UTSW 14 121,170,537 (GRCm39) missense possibly damaging 0.95
R7911:Ipo5 UTSW 14 121,167,051 (GRCm39) splice site probably null
R8222:Ipo5 UTSW 14 121,157,414 (GRCm39) missense probably benign 0.00
R8238:Ipo5 UTSW 14 121,172,652 (GRCm39) missense probably damaging 1.00
R8483:Ipo5 UTSW 14 121,183,560 (GRCm39) missense probably benign
R8826:Ipo5 UTSW 14 121,157,366 (GRCm39) missense probably damaging 1.00
R9042:Ipo5 UTSW 14 121,160,547 (GRCm39) missense probably benign 0.01
W0251:Ipo5 UTSW 14 121,176,197 (GRCm39) missense probably benign 0.17
X0062:Ipo5 UTSW 14 121,179,083 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CTAATAGCGTGGGTGGAGTC -3'
(R):5'- CACATGAGGAATGCCAAGTGTG -3'

Sequencing Primer
(F):5'- CTAATAGCGTGGGTGGAGTCTGTAC -3'
(R):5'- CTTTCAGACTTGTTTCCAACAGAG -3'
Posted On 2014-12-04