Incidental Mutation 'R3891:Pex2'
ID 310378
Institutional Source Beutler Lab
Gene Symbol Pex2
Ensembl Gene ENSMUSG00000040374
Gene Name peroxisomal biogenesis factor 2
Synonyms Zellweger syndrome homolog, D3Ertd138e, Pxmp3, PMP35
MMRRC Submission 040803-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3891 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 5625248-5641299 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 5626008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 267 (C267Y)
Ref Sequence ENSEMBL: ENSMUSP00000141927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059021] [ENSMUST00000071280] [ENSMUST00000164828] [ENSMUST00000165309] [ENSMUST00000191916] [ENSMUST00000195855]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000059021
AA Change: C267Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059415
Gene: ENSMUSG00000040374
AA Change: C267Y

DomainStartEndE-ValueType
Pfam:Pex2_Pex12 26 226 1.9e-40 PFAM
RING 244 283 7.45e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000071280
AA Change: C267Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071255
Gene: ENSMUSG00000040374
AA Change: C267Y

DomainStartEndE-ValueType
Pfam:Pex2_Pex12 26 226 1.9e-40 PFAM
RING 244 283 7.45e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000164828
AA Change: C267Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129311
Gene: ENSMUSG00000040374
AA Change: C267Y

DomainStartEndE-ValueType
Pfam:Pex2_Pex12 26 226 1.9e-40 PFAM
RING 244 283 7.45e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165309
AA Change: C267Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126445
Gene: ENSMUSG00000040374
AA Change: C267Y

DomainStartEndE-ValueType
Pfam:Pex2_Pex12 26 225 3.7e-39 PFAM
RING 244 283 7.45e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191916
AA Change: C267Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141945
Gene: ENSMUSG00000040374
AA Change: C267Y

DomainStartEndE-ValueType
Pfam:Pex2_Pex12 26 226 1.9e-40 PFAM
RING 244 283 7.45e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000195855
AA Change: C267Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141927
Gene: ENSMUSG00000040374
AA Change: C267Y

DomainStartEndE-ValueType
Pfam:Pex2_Pex12 26 226 1.9e-40 PFAM
RING 244 283 7.45e-4 SMART
Meta Mutation Damage Score 0.9690 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die sometime before weaning. Various abnormalities are seen in the central nervous system depending on the genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 A G 4: 128,655,847 (GRCm39) T72A probably damaging Het
Ascc3 T A 10: 50,718,289 (GRCm39) I1994N probably damaging Het
C1qb A T 4: 136,607,727 (GRCm39) V212E probably damaging Het
Cfap54 T A 10: 92,874,708 (GRCm39) I563F possibly damaging Het
Clip2 T C 5: 134,551,847 (GRCm39) K92E probably damaging Het
Clrn3 T C 7: 135,120,194 (GRCm39) T131A possibly damaging Het
Col9a1 T C 1: 24,224,517 (GRCm39) probably null Het
Def8 T C 8: 124,185,083 (GRCm39) probably benign Het
Diaph1 C A 18: 38,033,691 (GRCm39) probably benign Het
Dmrta1 A T 4: 89,579,831 (GRCm39) I264F possibly damaging Het
Dscaml1 A T 9: 45,628,782 (GRCm39) D1112V possibly damaging Het
Ehbp1l1 A G 19: 5,768,340 (GRCm39) S988P possibly damaging Het
Gabrr2 A G 4: 33,081,348 (GRCm39) Y4C probably damaging Het
Gm10088 T C 16: 18,847,001 (GRCm39) noncoding transcript Het
Gm5616 A G 9: 48,361,809 (GRCm39) noncoding transcript Het
H2-T24 T A 17: 36,326,330 (GRCm39) I190F possibly damaging Het
Hmcn1 A T 1: 150,510,946 (GRCm39) D3592E probably damaging Het
Il1rap A G 16: 26,495,606 (GRCm39) Y71C probably damaging Het
Krt1 T A 15: 101,758,847 (GRCm39) S106C unknown Het
Lsamp T C 16: 39,805,054 (GRCm39) V11A probably benign Het
Mob1b T A 5: 88,901,061 (GRCm39) I156K probably damaging Het
Naip2 T A 13: 100,297,606 (GRCm39) E810V probably damaging Het
Nfe2l1 A G 11: 96,710,823 (GRCm39) S181P possibly damaging Het
Nos1ap T C 1: 170,177,025 (GRCm39) Y126C probably damaging Het
Nuak2 G T 1: 132,259,223 (GRCm39) A342S possibly damaging Het
Or10ah1-ps1 G T 5: 143,123,152 (GRCm39) S290R probably benign Het
Or2aj5 A G 16: 19,425,205 (GRCm39) I71T probably damaging Het
Or2t1 T A 14: 14,328,114 (GRCm38) M1K probably null Het
Pcdhb16 A T 18: 37,612,422 (GRCm39) I461F probably benign Het
Pcdhga10 A C 18: 37,882,534 (GRCm39) H765P probably benign Het
Pgghg T C 7: 140,525,616 (GRCm39) I473T probably damaging Het
Polr2e G T 10: 79,873,213 (GRCm39) P80T probably benign Het
Pum1 T C 4: 130,491,393 (GRCm39) L774P probably damaging Het
Rasef A G 4: 73,698,634 (GRCm39) V9A probably benign Het
Rpl13 A G 8: 123,831,907 (GRCm39) E201G probably damaging Het
Skint2 A G 4: 112,481,383 (GRCm39) E82G probably damaging Het
Skor2 A G 18: 76,946,350 (GRCm39) D24G unknown Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Slc29a3 T A 10: 60,552,040 (GRCm39) K335* probably null Het
Slc30a6 T A 17: 74,726,541 (GRCm39) D282E probably benign Het
Slc9a7 A G X: 20,052,352 (GRCm39) F247S probably damaging Het
Slx4 A T 16: 3,797,773 (GRCm39) I1537N probably damaging Het
Specc1 C T 11: 62,042,739 (GRCm39) T872M probably benign Het
Stard10 G A 7: 100,993,137 (GRCm39) R231Q possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tesl1 A G X: 23,773,180 (GRCm39) Y227C probably damaging Het
Vwa1 T C 4: 155,857,651 (GRCm39) E49G probably damaging Het
Zc3h12a A G 4: 125,020,678 (GRCm39) F55S probably damaging Het
Zmym4 A G 4: 126,798,269 (GRCm39) I786T probably benign Het
Other mutations in Pex2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Pex2 APN 3 5,626,424 (GRCm39) missense probably benign 0.00
IGL03186:Pex2 APN 3 5,626,777 (GRCm39) missense probably benign 0.04
R0194:Pex2 UTSW 3 5,626,424 (GRCm39) missense probably benign 0.00
R0479:Pex2 UTSW 3 5,626,355 (GRCm39) missense probably damaging 1.00
R2145:Pex2 UTSW 3 5,626,650 (GRCm39) missense probably damaging 1.00
R2862:Pex2 UTSW 3 5,626,240 (GRCm39) missense probably damaging 1.00
R3890:Pex2 UTSW 3 5,626,008 (GRCm39) missense probably damaging 1.00
R4627:Pex2 UTSW 3 5,626,341 (GRCm39) missense probably damaging 0.98
R5208:Pex2 UTSW 3 5,626,428 (GRCm39) missense probably benign
R5884:Pex2 UTSW 3 5,626,359 (GRCm39) missense probably benign
R6474:Pex2 UTSW 3 5,626,191 (GRCm39) missense probably damaging 1.00
R7158:Pex2 UTSW 3 5,626,396 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACACTGAGGATGACTAATTCCAAGG -3'
(R):5'- AGGGAACTTCTCTGGCATGG -3'

Sequencing Primer
(F):5'- TGACTAATTCCAAGGAACTGGATAC -3'
(R):5'- GAACTTCTCTGGCATGGCTTTGC -3'
Posted On 2015-04-17