Incidental Mutation 'IGL02539:Pex5'
ID297657
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex5
Ensembl Gene ENSMUSG00000005069
Gene Nameperoxisomal biogenesis factor 5
SynonymsESTM1, peroxisome biogenesis factor 5, PTS1R, Pxr1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02539
Quality Score
Status
Chromosome6
Chromosomal Location124396816-124415067 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 124403224 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 288 (D288E)
Ref Sequence ENSEMBL: ENSMUSP00000108151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035861] [ENSMUST00000080557] [ENSMUST00000112530] [ENSMUST00000112531] [ENSMUST00000112532]
Predicted Effect probably benign
Transcript: ENSMUST00000035861
AA Change: D288E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000049132
Gene: ENSMUSG00000005069
AA Change: D288E

DomainStartEndE-ValueType
low complexity region 231 247 N/A INTRINSIC
TPR 371 404 2.66e0 SMART
low complexity region 443 454 N/A INTRINSIC
TPR 488 521 1.76e-5 SMART
TPR 522 555 1.49e-3 SMART
TPR 556 589 3.87e-2 SMART
low complexity region 622 633 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000080557
AA Change: D251E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000079398
Gene: ENSMUSG00000005069
AA Change: D251E

DomainStartEndE-ValueType
TPR 334 367 2.66e0 SMART
low complexity region 406 417 N/A INTRINSIC
TPR 451 484 1.76e-5 SMART
TPR 485 518 1.49e-3 SMART
TPR 519 552 3.87e-2 SMART
low complexity region 585 596 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112530
AA Change: D281E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000108149
Gene: ENSMUSG00000005069
AA Change: D281E

DomainStartEndE-ValueType
low complexity region 224 240 N/A INTRINSIC
TPR 364 397 2.66e0 SMART
low complexity region 436 447 N/A INTRINSIC
TPR 481 514 1.76e-5 SMART
TPR 515 548 1.49e-3 SMART
TPR 549 582 3.87e-2 SMART
low complexity region 615 626 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112531
AA Change: D251E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108150
Gene: ENSMUSG00000005069
AA Change: D251E

DomainStartEndE-ValueType
TPR 334 367 2.66e0 SMART
low complexity region 406 417 N/A INTRINSIC
TPR 451 484 1.76e-5 SMART
TPR 485 518 1.49e-3 SMART
TPR 519 552 3.87e-2 SMART
low complexity region 585 596 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112532
AA Change: D288E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000108151
Gene: ENSMUSG00000005069
AA Change: D288E

DomainStartEndE-ValueType
low complexity region 231 247 N/A INTRINSIC
TPR 371 404 2.66e0 SMART
low complexity region 443 454 N/A INTRINSIC
TPR 488 521 1.76e-5 SMART
TPR 522 555 1.49e-3 SMART
TPR 556 589 3.87e-2 SMART
low complexity region 622 633 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156415
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced size, muscle weakness, respiratory distress, and retarded development and defects of the kidney, liver, brain, and intestine associated with lack of peroxisomes, and die within 3-4 days of birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 24,786,213 Y479* probably null Het
Btnl6 T C 17: 34,508,314 N414S probably benign Het
Ccdc180 A G 4: 45,921,005 N984D probably damaging Het
Cfc1 A T 1: 34,537,122 probably benign Het
Chrm1 G A 19: 8,678,311 V127M probably damaging Het
Dicer1 A G 12: 104,697,035 L1429P probably damaging Het
Erbb3 A G 10: 128,584,305 probably null Het
Evi5 T C 5: 107,815,665 E348G probably benign Het
Fat2 G A 11: 55,281,793 T2698I probably damaging Het
Gas2 A G 7: 51,897,290 D63G possibly damaging Het
Gm28042 A G 2: 120,035,221 D313G probably damaging Het
Hivep2 T A 10: 14,131,878 S1407T probably damaging Het
Ibsp T A 5: 104,302,283 M19K probably damaging Het
Itih3 C T 14: 30,912,664 D129N probably benign Het
Krtap4-8 A T 11: 99,780,370 probably benign Het
Mertk A G 2: 128,801,290 T870A probably damaging Het
Mtmr11 C A 3: 96,164,991 probably benign Het
Nbas C A 12: 13,272,703 probably benign Het
Nlrp4b A G 7: 10,714,428 D186G probably damaging Het
Olfm3 A G 3: 115,101,930 I154V possibly damaging Het
Olfr713 T A 7: 107,036,434 I93N probably damaging Het
Pdk2 T C 11: 95,032,495 K101R probably benign Het
Pds5a C T 5: 65,666,119 D110N probably damaging Het
Pitrm1 A G 13: 6,568,756 D655G probably benign Het
Plcz1 T C 6: 139,992,964 N554S probably benign Het
Plin4 T C 17: 56,106,680 Q315R probably damaging Het
Plpp5 A G 8: 25,724,188 H244R probably benign Het
Ppp1r3a C T 6: 14,718,459 V819I probably benign Het
Rap1b T A 10: 117,822,804 R41S possibly damaging Het
Rc3h2 T A 2: 37,389,715 S501C probably benign Het
Sel1l2 G T 2: 140,230,858 A619D probably damaging Het
Ska3 T C 14: 57,820,511 D128G possibly damaging Het
Specc1l A T 10: 75,267,508 I889L probably benign Het
Ssxb5 T A X: 8,808,848 N130K probably damaging Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tet1 T C 10: 62,813,019 Q267R possibly damaging Het
Tlr8 T A X: 167,244,156 H566L possibly damaging Het
Tmem132d T A 5: 127,783,979 Q1026L probably benign Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trp53bp2 C A 1: 182,448,691 P746T probably damaging Het
Uso1 A T 5: 92,187,773 I547F probably damaging Het
Zfp687 A C 3: 95,011,062 N466K probably damaging Het
Other mutations in Pex5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01980:Pex5 APN 6 124398380 missense probably damaging 1.00
IGL02027:Pex5 APN 6 124398888 missense probably benign 0.20
IGL02041:Pex5 APN 6 124405281 splice site probably benign
IGL02128:Pex5 APN 6 124398460 missense probably damaging 1.00
IGL02507:Pex5 APN 6 124413305 missense probably benign
IGL03180:Pex5 APN 6 124413563 splice site probably benign
R0143:Pex5 UTSW 6 124398489 missense probably damaging 1.00
R0600:Pex5 UTSW 6 124404637 missense probably benign 0.10
R0904:Pex5 UTSW 6 124399937 splice site probably benign
R1970:Pex5 UTSW 6 124414405 missense probably damaging 1.00
R4628:Pex5 UTSW 6 124403120 missense possibly damaging 0.90
R4879:Pex5 UTSW 6 124398363 missense probably benign 0.02
R5068:Pex5 UTSW 6 124413596 missense probably benign 0.01
R5069:Pex5 UTSW 6 124413596 missense probably benign 0.01
R5339:Pex5 UTSW 6 124398004 missense probably benign 0.02
R6433:Pex5 UTSW 6 124413613 missense possibly damaging 0.81
R6825:Pex5 UTSW 6 124414381 missense probably damaging 0.98
R6851:Pex5 UTSW 6 124403154 missense possibly damaging 0.92
R7148:Pex5 UTSW 6 124405272 missense probably benign 0.10
R7286:Pex5 UTSW 6 124398063 nonsense probably null
R7673:Pex5 UTSW 6 124399383 missense probably damaging 0.98
R7752:Pex5 UTSW 6 124403901 missense probably damaging 0.99
R7752:Pex5 UTSW 6 124414018 missense probably benign 0.03
R7793:Pex5 UTSW 6 124399341 missense probably benign 0.00
R8301:Pex5 UTSW 6 124405183 missense probably benign 0.02
Z1177:Pex5 UTSW 6 124398386 missense probably damaging 1.00
Posted On2015-04-16