Incidental Mutation 'R0230:Pex7'
ID 34062
Institutional Source Beutler Lab
Gene Symbol Pex7
Ensembl Gene ENSMUSG00000020003
Gene Name peroxisomal biogenesis factor 7
Synonyms peroxisome biogenesis factor 7
MMRRC Submission 038473-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.564) question?
Stock # R0230 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 19735836-19783420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19780331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 101 (V101A)
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: V101A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000020182
Gene: ENSMUSG00000020003
AA Change: V101A

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 possibly damaging
Transcript: ENSMUST00000166511
AA Change: V101A

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132996
Gene: ENSMUSG00000020003
AA Change: V101A

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: ENSMUST00000214951
Meta Mutation Damage Score 0.5464 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.7%
Validation Efficiency 100% (83/83)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amy1 T C 3: 113,352,079 (GRCm39) D371G probably benign Het
Asrgl1 T A 19: 9,095,883 (GRCm39) probably benign Het
Asxl3 T A 18: 22,585,383 (GRCm39) probably benign Het
B3galnt1 T C 3: 69,482,673 (GRCm39) N196S possibly damaging Het
Bbof1 A G 12: 84,471,978 (GRCm39) H74R probably damaging Het
Bpifb9b C T 2: 154,158,995 (GRCm39) T504M probably damaging Het
Cdk12 T G 11: 98,094,817 (GRCm39) S208R probably damaging Het
Cdk5r1 T C 11: 80,368,576 (GRCm39) L81P probably damaging Het
Chrd T C 16: 20,552,025 (GRCm39) L43P probably benign Het
Col6a4 A C 9: 105,949,565 (GRCm39) M690R probably benign Het
Cyp39a1 A T 17: 44,042,903 (GRCm39) R418W probably damaging Het
Dars2 C T 1: 160,890,357 (GRCm39) V162M probably benign Het
Dixdc1 C T 9: 50,606,807 (GRCm39) V270M possibly damaging Het
Dnah11 C A 12: 117,946,791 (GRCm39) E1194* probably null Het
Dnah7b T C 1: 46,258,508 (GRCm39) S1900P probably damaging Het
Dnah9 C T 11: 65,746,141 (GRCm39) E3991K probably damaging Het
Dsp A T 13: 38,381,681 (GRCm39) I2210F probably benign Het
Ebf1 A G 11: 44,886,949 (GRCm39) S556G probably damaging Het
Enam G A 5: 88,637,514 (GRCm39) probably benign Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Epc1 T C 18: 6,440,168 (GRCm39) D579G probably damaging Het
Ephb3 A T 16: 21,039,525 (GRCm39) I426F probably damaging Het
Fam135b T G 15: 71,317,886 (GRCm39) I1359L probably benign Het
Fcgbpl1 T A 7: 27,856,250 (GRCm39) H2012Q probably damaging Het
Gm16519 T C 17: 71,236,128 (GRCm39) S26P probably benign Het
Gm17622 T A 13: 96,627,594 (GRCm39) probably null Het
Gpat2 G A 2: 127,277,765 (GRCm39) V764I possibly damaging Het
Gpx4 G A 10: 79,890,838 (GRCm39) A81T probably benign Het
Gss C A 2: 155,420,326 (GRCm39) R83L probably damaging Het
Hcls1 C A 16: 36,758,216 (GRCm39) Q36K probably damaging Het
Hepacam2 A G 6: 3,463,336 (GRCm39) V438A probably benign Het
Hnf4a T C 2: 163,401,005 (GRCm39) F184S probably damaging Het
Katnal1 T A 5: 148,855,460 (GRCm39) D90V possibly damaging Het
Kcnt2 A G 1: 140,174,083 (GRCm39) D30G probably benign Het
Kyat1 T C 2: 30,084,087 (GRCm39) E11G probably benign Het
Lefty1 T A 1: 180,764,579 (GRCm39) V168E probably damaging Het
Map2k6 C T 11: 110,387,281 (GRCm39) P218S probably damaging Het
Mlkl C G 8: 112,041,694 (GRCm39) K415N probably benign Het
Myh7 A T 14: 55,211,390 (GRCm39) M1593K probably benign Het
Myo19 T A 11: 84,784,159 (GRCm39) C186S possibly damaging Het
Ngp T C 9: 110,249,069 (GRCm39) L47P probably damaging Het
Nkiras1 A G 14: 18,280,185 (GRCm38) N192S probably benign Het
Or1j17 G A 2: 36,578,628 (GRCm39) V205M probably benign Het
Or2n1 A G 17: 38,486,841 (GRCm39) I289V probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or8u9 T C 2: 86,001,886 (GRCm39) I92V probably benign Het
Pdcd6ip A G 9: 113,514,361 (GRCm39) probably benign Het
Pde4b T C 4: 102,454,707 (GRCm39) Y186H probably benign Het
Phldb3 G A 7: 24,312,004 (GRCm39) R106Q probably benign Het
Plxnc1 A G 10: 94,635,209 (GRCm39) V1339A probably benign Het
Proser1 A G 3: 53,386,383 (GRCm39) N755S probably damaging Het
Ptpn13 A G 5: 103,674,997 (GRCm39) D658G probably damaging Het
Rassf8 A C 6: 145,765,700 (GRCm39) probably benign Het
Rfc4 G A 16: 22,932,849 (GRCm39) Q363* probably null Het
Rxfp1 T C 3: 79,552,282 (GRCm39) N673S probably damaging Het
Scn7a T C 2: 66,556,628 (GRCm39) E319G probably damaging Het
Scnn1g A G 7: 121,345,984 (GRCm39) probably benign Het
Scube2 C T 7: 109,423,971 (GRCm39) probably null Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slc6a13 A G 6: 121,301,262 (GRCm39) N184D probably benign Het
Slco1a5 T A 6: 142,182,054 (GRCm39) probably benign Het
Slf1 T A 13: 77,260,867 (GRCm39) probably benign Het
Smarca4 G A 9: 21,612,168 (GRCm39) V1518I probably damaging Het
Smyd3 A G 1: 179,250,993 (GRCm39) probably benign Het
Sox5 A G 6: 144,155,064 (GRCm39) F11L probably benign Het
Spag17 T C 3: 100,014,143 (GRCm39) S2139P probably benign Het
Spice1 A T 16: 44,185,939 (GRCm39) probably benign Het
Sptan1 T A 2: 29,900,704 (GRCm39) probably benign Het
Srebf2 T A 15: 82,066,286 (GRCm39) N571K probably damaging Het
Tbl3 A G 17: 24,920,307 (GRCm39) L670P probably damaging Het
Tmem45a2 A G 16: 56,867,359 (GRCm39) V114A possibly damaging Het
Tmigd3 A G 3: 105,826,053 (GRCm39) N132D possibly damaging Het
Ttn T C 2: 76,567,778 (GRCm39) D19378G probably damaging Het
Ugcg C A 4: 59,189,739 (GRCm39) Y32* probably null Het
Ush2a C T 1: 188,582,301 (GRCm39) P3788L probably damaging Het
Usp22 T A 11: 61,050,023 (GRCm39) probably benign Het
Xaf1 T C 11: 72,197,381 (GRCm39) probably benign Het
Zbtb41 C T 1: 139,374,673 (GRCm39) T711I probably damaging Het
Zfp457 T C 13: 67,442,180 (GRCm39) T132A possibly damaging Het
Zfp64 T G 2: 168,754,150 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- CTGTTGCCTAATGAGAAGCCTGACC -3'
(R):5'- AAAGCCACTACCTGCTCGTAGCTC -3'

Sequencing Primer
(F):5'- GAGAAGCCTGACCTTTTCTTG -3'
(R):5'- CATATGAGTGTTTGGAAACCTCC -3'
Posted On 2013-05-09