Incidental Mutation 'R4977:Pex7'
ID 382781
Institutional Source Beutler Lab
Gene Symbol Pex7
Ensembl Gene ENSMUSG00000020003
Gene Name peroxisomal biogenesis factor 7
Synonyms peroxisome biogenesis factor 7
MMRRC Submission 042572-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.564) question?
Stock # R4977 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 19735836-19783420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19745078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 258 (T258A)
Ref Sequence ENSEMBL: ENSMUSP00000132996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020182] [ENSMUST00000166511]
AlphaFold P97865
Predicted Effect probably benign
Transcript: ENSMUST00000020182
AA Change: T284A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000020182
Gene: ENSMUSG00000020003
AA Change: T284A

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 noncoding transcript
Transcript: ENSMUST00000125942
Predicted Effect probably benign
Transcript: ENSMUST00000166511
AA Change: T258A

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000132996
Gene: ENSMUSG00000020003
AA Change: T258A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216902
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.2%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,026,899 (GRCm39) D910G probably benign Het
Amy1 C T 3: 113,363,026 (GRCm39) probably null Het
C1s2 A G 6: 124,612,598 (GRCm39) M19T probably damaging Het
Cadps2 A G 6: 23,599,478 (GRCm39) I276T probably damaging Het
Cdyl2 A G 8: 117,302,008 (GRCm39) C458R probably damaging Het
Cep112 T C 11: 108,325,062 (GRCm39) S35P probably damaging Het
Chd9 T C 8: 91,760,336 (GRCm39) L2027P possibly damaging Het
Clcn4 T A 7: 7,294,436 (GRCm39) I411F probably benign Het
Cyp3a57 T C 5: 145,286,236 (GRCm39) probably null Het
Dis3l A C 9: 64,214,483 (GRCm39) S919A probably benign Het
Dnah8 A G 17: 30,882,275 (GRCm39) T616A probably benign Het
Emx2 A G 19: 59,447,678 (GRCm39) T11A probably damaging Het
Fbxl18 A G 5: 142,871,840 (GRCm39) L465P probably damaging Het
Fbxw27 G A 9: 109,601,187 (GRCm39) T311I probably damaging Het
Fhip1b A T 7: 105,038,542 (GRCm39) D232E probably damaging Het
Fstl5 C T 3: 76,317,801 (GRCm39) Q156* probably null Het
Ggn G T 7: 28,871,621 (GRCm39) G334C probably damaging Het
Grik2 T C 10: 49,008,841 (GRCm39) N749D probably damaging Het
Helb A G 10: 119,946,786 (GRCm39) S176P probably benign Het
Hyal1 A G 9: 107,456,153 (GRCm39) D73G probably benign Het
Ifi205 C A 1: 173,842,574 (GRCm39) R374I probably benign Het
Ift172 A T 5: 31,429,460 (GRCm39) V567D possibly damaging Het
Ighv1-43 A T 12: 114,909,845 (GRCm39) S26T possibly damaging Het
Il21 C A 3: 37,286,653 (GRCm39) S21I probably damaging Het
Jam3 A G 9: 27,009,669 (GRCm39) V309A probably damaging Het
Kcnh4 A T 11: 100,637,659 (GRCm39) L666Q probably damaging Het
Kcnk10 A G 12: 98,406,946 (GRCm39) V250A probably benign Het
Lama1 A G 17: 68,044,677 (GRCm39) Y192C probably damaging Het
Lamb2 G A 9: 108,364,846 (GRCm39) R1200H probably damaging Het
Lilra6 T G 7: 3,917,382 (GRCm39) R204S probably benign Het
Lrrn1 A G 6: 107,545,668 (GRCm39) I489V probably benign Het
Mdh2 T A 5: 135,812,263 (GRCm39) D57E probably damaging Het
Mfsd2a A G 4: 122,844,302 (GRCm39) S282P probably benign Het
Midn T A 10: 79,986,018 (GRCm39) I36N probably damaging Het
Mpped1 A T 15: 83,680,907 (GRCm39) probably benign Het
Myh10 A G 11: 68,689,197 (GRCm39) D1258G possibly damaging Het
Nup62 T C 7: 44,478,449 (GRCm39) S155P possibly damaging Het
Or2g7 A T 17: 38,378,638 (GRCm39) H192L possibly damaging Het
Or2t46 A G 11: 58,472,455 (GRCm39) T262A possibly damaging Het
Or52ab7 A T 7: 102,978,040 (GRCm39) M116L probably benign Het
Plg A G 17: 12,621,976 (GRCm39) D432G probably damaging Het
Plxnd1 A T 6: 115,971,337 (GRCm39) S144T probably damaging Het
Prkch T C 12: 73,749,667 (GRCm39) F420S possibly damaging Het
Psg26 A G 7: 18,209,235 (GRCm39) V391A probably benign Het
Psg29 G A 7: 16,942,556 (GRCm39) G186R probably damaging Het
Rev3l T A 10: 39,699,574 (GRCm39) I1357K possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,123 (GRCm39) probably benign Het
Runx1 T A 16: 92,441,235 (GRCm39) probably null Het
Sapcd1 A T 17: 35,245,427 (GRCm39) S119T possibly damaging Het
Sema5a T A 15: 32,679,332 (GRCm39) N870K probably damaging Het
Serpina3f G A 12: 104,183,314 (GRCm39) E59K probably benign Het
Slc8b1 A G 5: 120,662,352 (GRCm39) K299E possibly damaging Het
Slco1b2 G A 6: 141,603,283 (GRCm39) M221I probably benign Het
Smg5 C T 3: 88,263,032 (GRCm39) Q812* probably null Het
Smr3a T G 5: 88,155,962 (GRCm39) probably null Het
Syt9 G A 7: 107,103,479 (GRCm39) D426N probably damaging Het
Tcf25 T C 8: 124,115,374 (GRCm39) Y204H probably benign Het
Tmeff2 T A 1: 51,018,715 (GRCm39) C232* probably null Het
Tmem184a C A 5: 139,793,757 (GRCm39) G219V probably null Het
Tnc G T 4: 63,924,485 (GRCm39) T1071K possibly damaging Het
Tnn C A 1: 159,948,188 (GRCm39) G842W probably damaging Het
Tshz3 T A 7: 36,470,615 (GRCm39) I868N probably benign Het
Ulbp1 C T 10: 7,397,391 (GRCm39) R238H probably benign Het
Ushbp1 C T 8: 71,847,693 (GRCm39) probably null Het
Usp34 G C 11: 23,438,982 (GRCm39) D3515H probably damaging Het
Wdr91 T C 6: 34,887,726 (GRCm39) E10G probably damaging Het
Xdh A T 17: 74,205,965 (GRCm39) F1016L probably benign Het
Zfp235 T G 7: 23,841,609 (GRCm39) I676S possibly damaging Het
Zfp619 G A 7: 39,186,811 (GRCm39) C947Y probably damaging Het
Zfp663 A G 2: 165,195,731 (GRCm39) S163P probably damaging Het
Zfp93 A G 7: 23,974,836 (GRCm39) I274V probably benign Het
Zswim4 C T 8: 84,953,296 (GRCm39) probably null Het
Other mutations in Pex7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:Pex7 APN 10 19,770,557 (GRCm39) intron probably benign
IGL02833:Pex7 APN 10 19,770,500 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGCCCAGATCATCAGTGACAC -3'
(R):5'- CATTGTGAGTCAGTTGCGC -3'

Sequencing Primer
(F):5'- GGAAGCTGAGCCACTCTCTTC -3'
(R):5'- CAGTTGCGCTGCTGTGATAAGATC -3'
Posted On 2016-04-27