Incidental Mutation 'IGL03186:Pex2'
ID412470
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex2
Ensembl Gene ENSMUSG00000040374
Gene Nameperoxisomal biogenesis factor 2
SynonymsD3Ertd138e, peroxisome biogenesis factor 2, Pex2, PMP35, Pxmp3, Zellweger syndrome homolog
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03186
Quality Score
Status
Chromosome3
Chromosomal Location5560188-5576239 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 5561717 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 11 (A11S)
Ref Sequence ENSEMBL: ENSMUSP00000141927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059021] [ENSMUST00000071280] [ENSMUST00000164828] [ENSMUST00000165309] [ENSMUST00000191916] [ENSMUST00000195855]
Predicted Effect probably benign
Transcript: ENSMUST00000059021
AA Change: A11S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000059415
Gene: ENSMUSG00000040374
AA Change: A11S

DomainStartEndE-ValueType
Pfam:Pex2_Pex12 26 226 1.9e-40 PFAM
RING 244 283 7.45e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000071280
AA Change: A11S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000071255
Gene: ENSMUSG00000040374
AA Change: A11S

DomainStartEndE-ValueType
Pfam:Pex2_Pex12 26 226 1.9e-40 PFAM
RING 244 283 7.45e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164828
AA Change: A11S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000129311
Gene: ENSMUSG00000040374
AA Change: A11S

DomainStartEndE-ValueType
Pfam:Pex2_Pex12 26 226 1.9e-40 PFAM
RING 244 283 7.45e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165309
AA Change: A11S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000126445
Gene: ENSMUSG00000040374
AA Change: A11S

DomainStartEndE-ValueType
Pfam:Pex2_Pex12 26 225 3.7e-39 PFAM
RING 244 283 7.45e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191916
AA Change: A11S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000141945
Gene: ENSMUSG00000040374
AA Change: A11S

DomainStartEndE-ValueType
Pfam:Pex2_Pex12 26 226 1.9e-40 PFAM
RING 244 283 7.45e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195855
AA Change: A11S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000141927
Gene: ENSMUSG00000040374
AA Change: A11S

DomainStartEndE-ValueType
Pfam:Pex2_Pex12 26 226 1.9e-40 PFAM
RING 244 283 7.45e-4 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 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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,433,618 I4769T possibly damaging Het
Ankrd53 T C 6: 83,763,713 I106T probably benign Het
Arsi A G 18: 60,917,473 D476G probably damaging Het
Atp2c1 T C 9: 105,413,130 K760E probably benign Het
C030048H21Rik A G 2: 26,253,338 probably null Het
Cep152 A G 2: 125,563,975 S1546P probably benign Het
Clock T C 5: 76,243,082 H291R probably damaging Het
Fkbp4 T C 6: 128,434,800 T109A probably benign Het
Igkv1-117 T C 6: 68,121,799 Y111H probably damaging Het
Kif20b A T 19: 34,934,944 E250V probably benign Het
Mef2c A G 13: 83,652,868 N229S probably benign Het
Ndufa9 A G 6: 126,844,892 V36A possibly damaging Het
Neb T C 2: 52,210,659 probably benign Het
Neb G A 2: 52,169,088 H213Y probably damaging Het
Neurl1a T A 19: 47,240,477 F152Y probably damaging Het
Nlrp14 G T 7: 107,186,670 C651F probably damaging Het
Odf3l1 T G 9: 56,849,072 N220T probably benign Het
Olfr1239 T A 2: 89,417,844 T190S probably damaging Het
Olfr202 A T 16: 59,283,903 V198E probably damaging Het
Olfr836 T A 9: 19,121,904 D316E probably benign Het
Pitpna C A 11: 75,612,250 H137N probably benign Het
Pole T G 5: 110,299,920 probably null Het
Rft1 T A 14: 30,658,349 I35N possibly damaging Het
Serpina1e T C 12: 103,949,203 H248R probably benign Het
Sgsm1 C T 5: 113,285,021 A254T probably benign Het
St3gal3 G A 4: 117,940,054 P331S possibly damaging Het
Ttn T A 2: 76,771,762 K16773* probably null Het
Zfp687 T C 3: 95,011,094 T456A probably benign Het
Zranb1 A G 7: 132,950,203 I220M possibly damaging Het
Other mutations in Pex2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Pex2 APN 3 5561364 missense probably benign 0.00
R0194:Pex2 UTSW 3 5561364 missense probably benign 0.00
R0479:Pex2 UTSW 3 5561295 missense probably damaging 1.00
R2145:Pex2 UTSW 3 5561590 missense probably damaging 1.00
R2862:Pex2 UTSW 3 5561180 missense probably damaging 1.00
R3890:Pex2 UTSW 3 5560948 missense probably damaging 1.00
R3891:Pex2 UTSW 3 5560948 missense probably damaging 1.00
R4627:Pex2 UTSW 3 5561281 missense probably damaging 0.98
R5208:Pex2 UTSW 3 5561368 missense probably benign
R5884:Pex2 UTSW 3 5561299 missense probably benign
R6474:Pex2 UTSW 3 5561131 missense probably damaging 1.00
R7158:Pex2 UTSW 3 5561336 missense probably benign
Posted On2016-08-02