Incidental Mutation 'R5884:Pex2'
ID 454554
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 044087-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5884 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 5625248-5641299 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5626359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 150 (E150G)
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 benign
Transcript: ENSMUST00000059021
AA Change: E150G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059415
Gene: ENSMUSG00000040374
AA Change: E150G

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: E150G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071255
Gene: ENSMUSG00000040374
AA Change: E150G

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: E150G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129311
Gene: ENSMUSG00000040374
AA Change: E150G

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: E150G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126445
Gene: ENSMUSG00000040374
AA Change: E150G

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: E150G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141945
Gene: ENSMUSG00000040374
AA Change: E150G

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: E150G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141927
Gene: ENSMUSG00000040374
AA Change: E150G

DomainStartEndE-ValueType
Pfam:Pex2_Pex12 26 226 1.9e-40 PFAM
RING 244 283 7.45e-4 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 95.6%
  • 20x: 82.8%
Validation Efficiency 96% (66/69)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmp5 T C 9: 75,805,836 (GRCm39) M446T probably damaging Het
Cacna1g C T 11: 94,328,693 (GRCm39) A1052T probably damaging Het
Cand1 C T 10: 119,049,670 (GRCm39) A359T possibly damaging Het
Ccne2 A T 4: 11,199,411 (GRCm39) T271S probably benign Het
Cep112 A G 11: 108,461,142 (GRCm39) T546A probably damaging Het
Ces1g A G 8: 94,033,558 (GRCm39) S455P probably benign Het
Dnah11 A T 12: 118,141,269 (GRCm39) C496S probably benign Het
Dtx3l C G 16: 35,752,603 (GRCm39) E668Q probably benign Het
Dysf T A 6: 84,163,063 (GRCm39) F1579I probably damaging Het
Emx2 T G 19: 59,452,461 (GRCm39) D248E probably damaging Het
Eri2 A C 7: 119,371,552 (GRCm39) *275E probably null Het
F5 G A 1: 164,023,215 (GRCm39) R1591H probably benign Het
Fabp3 A G 4: 130,206,131 (GRCm39) T41A probably benign Het
Fam89a C T 8: 125,478,508 (GRCm39) R14H probably damaging Het
Gbe1 T A 16: 70,325,763 (GRCm39) probably null Het
Golga3 A G 5: 110,364,761 (GRCm39) E1211G probably damaging Het
Gpa33 T C 1: 165,980,329 (GRCm39) S131P probably damaging Het
Hyal6 T C 6: 24,743,368 (GRCm39) Y355H probably damaging Het
Ide A T 19: 37,249,552 (GRCm39) probably null Het
Ighv5-21 A T 12: 114,283,806 (GRCm39) probably benign Het
Iglc1 A T 16: 18,880,741 (GRCm39) probably benign Het
Impa1 A T 3: 10,381,284 (GRCm39) N199K probably damaging Het
Irx5 A C 8: 93,087,258 (GRCm39) T397P possibly damaging Het
Lonp2 A G 8: 87,368,254 (GRCm39) Y356C probably damaging Het
Matn4 A T 2: 164,246,528 (GRCm39) probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Nav2 T A 7: 49,246,917 (GRCm39) Y2147* probably null Het
Nek5 C T 8: 22,578,817 (GRCm39) probably null Het
Omt2b A G 9: 78,235,839 (GRCm39) M55V probably benign Het
Or5d37 A G 2: 87,924,140 (GRCm39) Y47H probably damaging Het
Or6z1 C A 7: 6,504,842 (GRCm39) V128L probably benign Het
Or9g8 T A 2: 85,607,399 (GRCm39) I157K probably damaging Het
Parp4 T A 14: 56,852,207 (GRCm39) H796Q probably damaging Het
Poglut2 T C 1: 44,156,260 (GRCm39) N109S probably benign Het
Psmb2 T A 4: 126,578,014 (GRCm39) V64E possibly damaging Het
Psmd6 C T 14: 14,116,526 (GRCm38) R63H probably damaging Het
Ptprd A G 4: 75,900,927 (GRCm39) Y1061H probably damaging Het
Rab23 A G 1: 33,763,967 (GRCm39) probably benign Het
Rad51ap2 GAAAAGGAAACTATTTAAAA GAAAA 12: 11,507,534 (GRCm39) probably benign Het
Reg1 C T 6: 78,405,200 (GRCm39) S141L possibly damaging Het
Rock1 A T 18: 10,099,361 (GRCm39) I680K probably benign Het
Sez6l2 A G 7: 126,569,328 (GRCm39) probably benign Het
Slc34a2 A T 5: 53,226,722 (GRCm39) Q615L possibly damaging Het
Slu7 A G 11: 43,334,245 (GRCm39) K424E probably benign Het
Tctn2 A T 5: 124,741,895 (GRCm39) noncoding transcript Het
Tmem87a T A 2: 120,234,605 (GRCm39) probably benign Het
Trappc4 A G 9: 44,315,385 (GRCm39) F198L probably damaging Het
Usp33 C T 3: 152,073,967 (GRCm39) T271I probably benign Het
Vmn1r15 T A 6: 57,235,993 (GRCm39) I287K probably damaging Het
Vmn2r75 A C 7: 85,814,578 (GRCm39) I305R probably benign Het
Wdr26 T C 1: 181,015,106 (GRCm39) probably benign Het
Zzz3 T C 3: 152,156,295 (GRCm39) S684P probably damaging 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
R3891: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
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'- GCACCAGTAAGAGGGATACACC -3'
(R):5'- CTGATATACCAGCCACCGAG -3'

Sequencing Primer
(F):5'- GACAATTTGGCTTTCAACTTCTGG -3'
(R):5'- GTAAAACTCAGAAACTGTGGTATGC -3'
Posted On 2017-02-10