Incidental Mutation 'IGL02833:Pex7'
ID 361525
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex7
Ensembl Gene ENSMUSG00000020003
Gene Name peroxisomal biogenesis factor 7
Synonyms peroxisome biogenesis factor 7
Accession Numbers
Essential gene? Possibly essential (E-score: 0.564) question?
Stock # IGL02833
Quality Score
Status
Chromosome 10
Chromosomal Location 19735836-19783420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19770500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 125 (S125P)
Ref Sequence ENSEMBL: ENSMUSP00000020182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020182] [ENSMUST00000166511]
AlphaFold P97865
Predicted Effect probably damaging
Transcript: ENSMUST00000020182
AA Change: S125P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020182
Gene: ENSMUSG00000020003
AA Change: S125P

DomainStartEndE-ValueType
WD40 52 91 9.24e-4 SMART
WD40 95 136 6.14e-9 SMART
WD40 139 179 8.55e-8 SMART
WD40 182 222 3.5e-4 SMART
WD40 226 266 1.3e-7 SMART
WD40 270 310 6.66e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166511
SMART Domains Protein: ENSMUSP00000132996
Gene: ENSMUSG00000020003

DomainStartEndE-ValueType
WD40 52 91 9.24e-4 SMART
WD40 113 153 8.55e-8 SMART
WD40 156 196 3.5e-4 SMART
WD40 200 240 1.3e-7 SMART
WD40 244 284 6.66e-1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one 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 have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for mutations in this gene, are petite with cataracts and have delayed ossification and fertility defects. Additionally, mice have biochemical defects in plasmalogen biosynthesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache A G 5: 137,289,371 (GRCm39) probably benign Het
Atr A T 9: 95,744,905 (GRCm39) H74L probably damaging Het
Brca2 A T 5: 150,465,255 (GRCm39) H1673L possibly damaging Het
Brwd1 A T 16: 95,853,771 (GRCm39) I495K probably damaging Het
Cacna1s A T 1: 135,998,743 (GRCm39) I213F probably benign Het
Cds1 T C 5: 101,962,332 (GRCm39) S316P possibly damaging Het
Ces1b G A 8: 93,806,038 (GRCm39) P68S probably damaging Het
Cilp A G 9: 65,185,206 (GRCm39) I434V probably benign Het
Csgalnact2 A G 6: 118,106,229 (GRCm39) Y30H probably damaging Het
Defb7 T C 8: 19,545,140 (GRCm39) V6A probably benign Het
Dlg2 A T 7: 92,080,335 (GRCm39) L841F probably damaging Het
Dnajc14 A G 10: 128,642,468 (GRCm39) N130S possibly damaging Het
Dock7 T A 4: 98,833,732 (GRCm39) D1863V probably damaging Het
Dsp A G 13: 38,376,897 (GRCm39) R1561G possibly damaging Het
Fads2b G T 2: 85,332,551 (GRCm39) R158S possibly damaging Het
Gstt4 G T 10: 75,658,174 (GRCm39) F28L probably damaging Het
Hectd1 G T 12: 51,810,864 (GRCm39) D1690E probably damaging Het
Hspg2 T C 4: 137,282,441 (GRCm39) S3394P probably benign Het
Ift25 T C 4: 107,132,492 (GRCm39) probably benign Het
Igf2r A T 17: 12,911,610 (GRCm39) C1910S probably damaging Het
Jakmip2 T C 18: 43,708,516 (GRCm39) probably benign Het
Katnip A T 7: 125,449,584 (GRCm39) R883* probably null Het
Kif1b C T 4: 149,330,821 (GRCm39) V612M probably damaging Het
Lrrd1 A G 5: 3,900,709 (GRCm39) E338G probably damaging Het
Mmp9 C A 2: 164,791,723 (GRCm39) D205E probably damaging Het
Mylk A T 16: 34,735,270 (GRCm39) H750L probably benign Het
Naip6 A G 13: 100,436,121 (GRCm39) S801P probably damaging Het
Nlrp1b A T 11: 71,051,998 (GRCm39) M980K probably benign Het
Or14j1 G A 17: 38,146,831 (GRCm39) V314I probably benign Het
Or2y3 T C 17: 38,393,243 (GRCm39) K209E possibly damaging Het
Or5d43 C A 2: 88,104,776 (GRCm39) V206F probably benign Het
Or6c88 A G 10: 129,406,619 (GRCm39) T32A probably benign Het
Pdk1 A G 2: 71,727,989 (GRCm39) probably null Het
Pigu T C 2: 155,187,565 (GRCm39) probably benign Het
Prr16 T A 18: 51,436,164 (GRCm39) H214Q probably damaging Het
Psme4 C T 11: 30,800,715 (GRCm39) probably benign Het
Sf3b3 A G 8: 111,538,609 (GRCm39) probably null Het
Sp4 T C 12: 118,225,616 (GRCm39) I583V probably benign Het
Spata22 A G 11: 73,234,569 (GRCm39) T224A probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tmem119 T A 5: 113,933,432 (GRCm39) Y123F probably damaging Het
Umps A T 16: 33,782,523 (GRCm39) L133* probably null Het
Usp46 T A 5: 74,177,343 (GRCm39) T179S probably benign Het
Vtcn1 T A 3: 100,795,701 (GRCm39) Y223N probably damaging Het
Wiz A G 17: 32,576,853 (GRCm39) M567T probably damaging Het
Other mutations in Pex7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:Pex7 APN 10 19,770,557 (GRCm39) intron probably benign
IGL02836:Pex7 APN 10 19,769,990 (GRCm39) splice site probably benign
IGL03164:Pex7 APN 10 19,770,461 (GRCm39) intron probably benign
plummage UTSW 10 19,770,061 (GRCm39) missense probably damaging 1.00
PIT4494001:Pex7 UTSW 10 19,770,469 (GRCm39) critical splice donor site probably null
R0230:Pex7 UTSW 10 19,780,331 (GRCm39) missense possibly damaging 0.50
R1136:Pex7 UTSW 10 19,764,434 (GRCm39) missense probably benign 0.31
R2049:Pex7 UTSW 10 19,770,061 (GRCm39) missense probably damaging 1.00
R4977:Pex7 UTSW 10 19,745,078 (GRCm39) missense probably benign 0.05
R5632:Pex7 UTSW 10 19,764,483 (GRCm39) missense probably damaging 1.00
R6901:Pex7 UTSW 10 19,736,740 (GRCm39) missense probably benign 0.03
R7561:Pex7 UTSW 10 19,770,012 (GRCm39) nonsense probably null
R8429:Pex7 UTSW 10 19,770,074 (GRCm39) missense probably damaging 0.96
R8775:Pex7 UTSW 10 19,760,522 (GRCm39) critical splice donor site probably null
R8775-TAIL:Pex7 UTSW 10 19,760,522 (GRCm39) critical splice donor site probably null
R9498:Pex7 UTSW 10 19,762,859 (GRCm39) nonsense probably null
Posted On 2015-12-18