Incidental Mutation 'R4118:Ipo5'
ID 315192
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 041631-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.919) question?
Stock # R4118 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 121148636-121185411 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121176073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 633 (T633A)
Ref Sequence ENSEMBL: ENSMUSP00000032898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032898]
AlphaFold Q8BKC5
Predicted Effect probably benign
Transcript: ENSMUST00000032898
AA Change: T633A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000032898
Gene: ENSMUSG00000030662
AA Change: T633A

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 0.0783 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 92% (55/60)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,373,503 (GRCm39) R31G possibly damaging Het
4932414N04Rik C T 2: 68,566,857 (GRCm39) R419C probably benign Het
Ankmy1 T C 1: 92,816,418 (GRCm39) E232G possibly damaging Het
Arhgef4 A T 1: 34,771,428 (GRCm39) K1245M probably damaging Het
Atp2c1 A G 9: 105,343,858 (GRCm39) L83P probably damaging Het
Atp9b T C 18: 80,793,044 (GRCm39) D1000G possibly damaging Het
Atxn7 T C 14: 14,100,308 (GRCm38) S665P probably benign Het
Bbs4 T C 9: 59,237,708 (GRCm39) Y212C possibly damaging Het
Cars1 A G 7: 143,113,384 (GRCm39) probably null Het
Cep162 T C 9: 87,086,229 (GRCm39) T1032A probably benign Het
Chd7 G A 4: 8,865,831 (GRCm39) E668K probably damaging Het
Dek T C 13: 47,242,076 (GRCm39) T201A probably benign Het
Depdc5 T A 5: 33,121,979 (GRCm39) S1079T probably damaging Het
Etaa1 A T 11: 17,896,180 (GRCm39) S646T probably benign Het
Fat1 T C 8: 45,463,474 (GRCm39) S1339P probably damaging Het
Fat1 C A 8: 45,503,981 (GRCm39) D4491E probably damaging Het
Gmps T C 3: 63,887,615 (GRCm39) V29A probably benign Het
Gpr18 T C 14: 122,149,968 (GRCm39) E19G probably benign Het
Jmjd1c T A 10: 67,055,532 (GRCm39) S317R probably damaging Het
Lama3 T A 18: 12,583,488 (GRCm39) M692K probably benign Het
Lrp12 A T 15: 39,741,361 (GRCm39) C451* probably null Het
Lrp2 C T 2: 69,260,606 (GRCm39) probably null Het
Myrfl T A 10: 116,664,870 (GRCm39) I387F probably damaging Het
Naglu G A 11: 100,964,908 (GRCm39) V332I probably benign Het
Nat2 G A 8: 67,954,271 (GRCm39) R127H possibly damaging Het
Otx2 G A 14: 48,896,611 (GRCm39) T141I probably benign Het
Paqr9 T A 9: 95,442,952 (GRCm39) I314N probably damaging Het
Pds5b CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 5: 150,698,819 (GRCm39) probably benign Het
Ppm1d A G 11: 85,202,408 (GRCm39) D37G probably benign Het
Prdm9 T G 17: 15,764,275 (GRCm39) D835A probably benign Het
Ptprq A G 10: 107,547,781 (GRCm39) S206P probably benign Het
Rapgef2 A G 3: 78,976,194 (GRCm39) probably null Het
Rpgrip1l G A 8: 91,979,535 (GRCm39) T969I probably benign Het
Rpp40 A G 13: 36,080,787 (GRCm39) Y316H probably damaging Het
Serpinb3d A T 1: 107,006,960 (GRCm39) D249E possibly damaging Het
Slc22a29 A C 19: 8,137,893 (GRCm39) probably benign Het
Slc35f1 T C 10: 52,965,464 (GRCm39) M293T probably damaging Het
Slmap A T 14: 26,204,027 (GRCm39) L98H probably damaging Het
Tiam1 C T 16: 89,673,921 (GRCm39) probably null Het
Tlr11 A G 14: 50,600,684 (GRCm39) Y890C probably damaging Het
Tmem131l T C 3: 83,868,074 (GRCm39) T194A probably benign Het
Ubap1 A T 4: 41,371,767 (GRCm39) D26V probably damaging Het
Vmn2r91 T A 17: 18,330,358 (GRCm39) N547K probably damaging Het
Wiz C T 17: 32,588,331 (GRCm39) probably benign Het
Wwp2 A G 8: 108,272,091 (GRCm39) T399A probably benign Het
Zfp729b A T 13: 67,740,829 (GRCm39) F479I possibly damaging Het
Zswim5 G A 4: 116,844,016 (GRCm39) R1018H 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
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
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'- TGTGTGCCATTGGGAAATGC -3'
(R):5'- CCAAAACTTTGCTGATCTCCGAG -3'

Sequencing Primer
(F):5'- CCATTGGGAAATGCATGAACATGTC -3'
(R):5'- GATCTCCGAGGTTCACAAATTC -3'
Posted On 2015-05-14