Incidental Mutation 'R0969:Ipo5'
ID 83999
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 039098-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.919) question?
Stock # R0969 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 121148636-121185411 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121181937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1010 (V1010D)
Ref Sequence ENSEMBL: ENSMUSP00000032898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032898]
AlphaFold Q8BKC5
Predicted Effect possibly damaging
Transcript: ENSMUST00000032898
AA Change: V1010D

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000032898
Gene: ENSMUSG00000030662
AA Change: V1010D

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: ENSMUST00000228277
Meta Mutation Damage Score 0.2255 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (38/39)
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
Acot11 C T 4: 106,617,277 (GRCm39) probably null Het
Afg1l T C 10: 42,194,617 (GRCm39) T392A probably damaging Het
Ccdc66 A G 14: 27,219,319 (GRCm39) S146P probably damaging Het
Ccl20 T A 1: 83,095,638 (GRCm39) probably benign Het
Cd2 T A 3: 101,183,371 (GRCm39) I313F probably benign Het
Cep350 A T 1: 155,816,572 (GRCm39) D374E possibly damaging Het
Cep85l T C 10: 53,157,592 (GRCm39) K602E probably benign Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Dhx8 T C 11: 101,630,526 (GRCm39) probably benign Het
Epha3 A T 16: 63,386,999 (GRCm39) L878Q probably damaging Het
F2rl2 A T 13: 95,837,461 (GRCm39) T169S probably damaging Het
Gpx3 T C 11: 54,799,852 (GRCm39) probably benign Het
Nipbl A T 15: 8,321,712 (GRCm39) L2647Q probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or5d18 T C 2: 87,864,592 (GRCm39) D297G probably damaging Het
Pcnt T C 10: 76,263,785 (GRCm39) E393G probably damaging Het
Pibf1 C A 14: 99,433,822 (GRCm39) Q590K probably benign Het
Pkd1l1 T C 11: 8,886,898 (GRCm39) D367G probably damaging Het
Pnpla7 T C 2: 24,940,965 (GRCm39) Y1106H probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slco5a1 C T 1: 13,060,116 (GRCm39) A202T probably damaging Het
Slco6c1 A C 1: 97,047,685 (GRCm39) I206R probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Srek1 G A 13: 103,889,011 (GRCm39) probably benign Het
St8sia6 T A 2: 13,701,680 (GRCm39) R112S probably benign Het
Suclg1 T A 6: 73,248,099 (GRCm39) H273Q probably benign Het
Taf2 T A 15: 54,894,553 (GRCm39) probably null Het
Tctn1 A G 5: 122,379,840 (GRCm39) V566A probably benign Het
Trpm4 A G 7: 44,977,331 (GRCm39) probably benign Het
Trpv3 C T 11: 73,169,764 (GRCm39) Q112* probably null Het
Ttll8 T C 15: 88,818,138 (GRCm39) Y179C probably damaging Het
Ugt2b38 T G 5: 87,560,232 (GRCm39) N361H probably damaging Het
Upk1b A G 16: 38,607,661 (GRCm39) probably benign Het
Zfp961 T G 8: 72,722,139 (GRCm39) H217Q probably 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
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
R2471:Ipo5 UTSW 14 121,159,574 (GRCm39) missense probably benign 0.12
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'- TCATTCAGGCTCCAGAGGCTAAGAC -3'
(R):5'- CAGTATGCCTTACCATACACCTCGC -3'

Sequencing Primer
(F):5'- GCTCCAGAGGCTAAGACCAAAG -3'
(R):5'- GACCTGATCTACAGCAAATGTAGTG -3'
Posted On 2013-11-08