Incidental Mutation 'R5632:Pex7'
ID 439930
Institutional Source Beutler Lab
Gene Symbol Pex7
Ensembl Gene ENSMUSG00000020003
Gene Name peroxisomal biogenesis factor 7
Synonyms peroxisome biogenesis factor 7
MMRRC Submission 043283-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.564) question?
Stock # R5632 (G1)
Quality Score 224
Status Not validated
Chromosome 10
Chromosomal Location 19735836-19783420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19764483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 153 (D153E)
Ref Sequence ENSEMBL: ENSMUSP00000132996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020182] [ENSMUST00000166511]
AlphaFold P97865
Predicted Effect possibly damaging
Transcript: ENSMUST00000020182
AA Change: D179E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020182
Gene: ENSMUSG00000020003
AA Change: D179E

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
Predicted Effect probably damaging
Transcript: ENSMUST00000166511
AA Change: D153E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132996
Gene: ENSMUSG00000020003
AA Change: D153E

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T C 12: 84,664,076 (GRCm39) T7A probably benign Het
Adam33 T G 2: 130,895,362 (GRCm39) D619A probably damaging Het
Ajm1 T C 2: 25,469,276 (GRCm39) T212A probably benign Het
Aldh3b3 C T 19: 4,018,522 (GRCm39) probably benign Het
Arhgef15 G A 11: 68,844,877 (GRCm39) P240L probably benign Het
Arhgef40 C A 14: 52,231,795 (GRCm39) T727K probably damaging Het
Arrdc1 T C 2: 24,817,840 (GRCm39) T43A probably benign Het
Bcl2l15 A G 3: 103,743,378 (GRCm39) N93S probably benign Het
Cd5l G T 3: 87,273,414 (GRCm39) E128* probably null Het
Cep97 T C 16: 55,735,946 (GRCm39) D284G probably benign Het
Ckmt1 T A 2: 121,191,073 (GRCm39) S162T probably damaging Het
Clock G A 5: 76,378,185 (GRCm39) P572S probably benign Het
Cpeb4 A G 11: 31,839,877 (GRCm39) D53G probably damaging Het
Crocc2 T A 1: 93,145,575 (GRCm39) S1485R probably damaging Het
Dcaf5 G A 12: 80,444,526 (GRCm39) A189V probably damaging Het
Duox2 C T 2: 122,111,936 (GRCm39) G1355S probably damaging Het
Fam120b C T 17: 15,623,344 (GRCm39) P441S probably benign Het
Fbxo41 A G 6: 85,461,486 (GRCm39) L74P probably damaging Het
H2-DMa A G 17: 34,356,975 (GRCm39) T158A probably benign Het
Hcar2 T A 5: 124,002,532 (GRCm39) T324S probably benign Het
Hif3a T C 7: 16,784,580 (GRCm39) I222V possibly damaging Het
Ighv1-7 A G 12: 114,502,501 (GRCm39) probably benign Het
Il20 T C 1: 130,835,165 (GRCm39) E151G probably benign Het
Jarid2 A G 13: 45,049,766 (GRCm39) E236G probably damaging Het
Knl1 T C 2: 118,900,833 (GRCm39) S845P probably damaging Het
Lamc2 T C 1: 153,007,636 (GRCm39) Y846C probably damaging Het
Lrp5 A G 19: 3,672,512 (GRCm39) V599A probably benign Het
Lrrc8b T A 5: 105,628,163 (GRCm39) S170T possibly damaging Het
Mex3d T C 10: 80,218,428 (GRCm39) K263R probably damaging Het
Mtor A G 4: 148,553,463 (GRCm39) K784E possibly damaging Het
Naip5 C A 13: 100,367,170 (GRCm39) probably null Het
Ncor1 T C 11: 62,229,060 (GRCm39) T609A possibly damaging Het
Ndufs1 C T 1: 63,189,218 (GRCm39) A536T probably benign Het
Neto1 A G 18: 86,516,768 (GRCm39) I362V probably benign Het
Nfatc3 T C 8: 106,805,689 (GRCm39) L178P probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Nsd3 C T 8: 26,169,985 (GRCm39) T707M probably benign Het
Or51f2 A C 7: 102,527,004 (GRCm39) S226R probably benign Het
Or5w1b A T 2: 87,475,573 (GRCm39) V298E probably damaging Het
Or9g19 T C 2: 85,600,613 (GRCm39) V156A probably benign Het
Pcnx1 T A 12: 81,964,504 (GRCm39) S224T probably damaging Het
Peak1 T C 9: 56,165,058 (GRCm39) T957A probably damaging Het
Plscr1 A G 9: 92,148,477 (GRCm39) E139G probably damaging Het
Psmb8 T C 17: 34,420,214 (GRCm39) Y269H probably benign Het
Rmc1 T C 18: 12,304,640 (GRCm39) F72L possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Sft2d2 T C 1: 165,012,657 (GRCm39) T80A probably damaging Het
Slc12a5 A G 2: 164,829,141 (GRCm39) I583M possibly damaging Het
Slc23a4 T C 6: 34,933,957 (GRCm39) M49V probably benign Het
Smarcb1 G A 10: 75,740,252 (GRCm39) Q309* probably null Het
Sphkap A T 1: 83,256,006 (GRCm39) V294E probably benign Het
Stoml1 C A 9: 58,160,653 (GRCm39) P35Q probably damaging Het
Timm10b G C 7: 105,290,329 (GRCm39) R42P probably damaging Het
Tnfrsf8 A T 4: 145,019,203 (GRCm39) S211T possibly damaging Het
Ttn T C 2: 76,536,164 (GRCm39) T26738A probably damaging Het
Vps13d A T 4: 144,801,452 (GRCm39) Y474N probably damaging Het
Wdr81 A T 11: 75,336,732 (GRCm39) F1552L probably damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Wnt7a A C 6: 91,371,637 (GRCm39) Y108* probably null Het
Zfp512b C T 2: 181,227,461 (GRCm39) R56K probably benign 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
R4977:Pex7 UTSW 10 19,745,078 (GRCm39) missense probably benign 0.05
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'- GGTCAGTCCCTTACTCACAAC -3'
(R):5'- ATCACTGTGAGTAGTTCTTAGGC -3'

Sequencing Primer
(F):5'- CGGAGTTTAACCTAAGGGTCC -3'
(R):5'- AGGCATTGTGATGGTTTGAGAATATG -3'
Posted On 2016-11-08