Incidental Mutation 'R6407:Pex3'
ID 514501
Institutional Source Beutler Lab
Gene Symbol Pex3
Ensembl Gene ENSMUSG00000019809
Gene Name peroxisomal biogenesis factor 3
Synonyms 2900010N04Rik, 2810027F19Rik, 1700014F15Rik
MMRRC Submission 044552-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6407 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 13399586-13428886 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13422112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 63 (R63G)
Ref Sequence ENSEMBL: ENSMUSP00000128512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019945] [ENSMUST00000105539] [ENSMUST00000105541] [ENSMUST00000170376]
AlphaFold Q9QXY9
Predicted Effect probably damaging
Transcript: ENSMUST00000019945
AA Change: R63G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019945
Gene: ENSMUSG00000019809
AA Change: R63G

DomainStartEndE-ValueType
Pfam:Peroxin-3 4 99 9.9e-23 PFAM
Pfam:Peroxin-3 94 363 5.7e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105539
SMART Domains Protein: ENSMUSP00000101178
Gene: ENSMUSG00000019809

DomainStartEndE-ValueType
Pfam:Peroxin-3 28 298 6.1e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105541
SMART Domains Protein: ENSMUSP00000101180
Gene: ENSMUSG00000019809

DomainStartEndE-ValueType
Pfam:Peroxin-3 28 286 2e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125207
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145337
Predicted Effect probably damaging
Transcript: ENSMUST00000170376
AA Change: R63G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128512
Gene: ENSMUSG00000019809
AA Change: R63G

DomainStartEndE-ValueType
Pfam:Peroxin-3 2 97 2.4e-35 PFAM
Pfam:Peroxin-3 94 352 7.3e-75 PFAM
Meta Mutation Damage Score 0.8395 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 100% (36/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 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 are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutants exhibit abnormal sebaceous gland, hair follicle bulge, and cornea morphology. An increase in B and T cell numbers and mean platelet volume, and vertebral transformation are also seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 T C 18: 65,422,809 (GRCm39) Y1963C probably benign Het
Bptf T A 11: 107,001,952 (GRCm39) N387Y probably damaging Het
C1ql2 T C 1: 120,269,340 (GRCm39) L165P probably damaging Het
Col5a2 C A 1: 45,415,938 (GRCm39) C1403F probably damaging Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Htr3a G T 9: 48,812,355 (GRCm39) Y250* probably null Het
Ighg2c T C 12: 113,252,271 (GRCm39) K94E unknown Het
Ighg3 T C 12: 113,323,770 (GRCm39) N206S unknown Het
Il36rn A G 2: 24,171,365 (GRCm39) Y151C probably damaging Het
Kif22 G A 7: 126,632,375 (GRCm39) R312C probably damaging Het
Lap3 T A 5: 45,669,267 (GRCm39) V472E probably damaging Het
Mast3 T C 8: 71,234,772 (GRCm39) T762A probably benign Het
Mfsd12 T C 10: 81,198,067 (GRCm39) probably null Het
Mrpl39 T C 16: 84,529,273 (GRCm39) K123R probably benign Het
Mup8 T A 4: 60,220,394 (GRCm39) T113S possibly damaging Het
Nhp2 T C 11: 51,510,730 (GRCm39) V29A probably benign Het
Or14a260 T C 7: 85,985,277 (GRCm39) E109G possibly damaging Het
Pfkl A G 10: 77,824,507 (GRCm39) probably null Het
Rims2 T C 15: 39,315,724 (GRCm39) S617P probably damaging Het
Rnf223 A T 4: 156,216,816 (GRCm39) T64S probably damaging Het
Rrp12 C T 19: 41,872,181 (GRCm39) V432M probably damaging Het
Sag T C 1: 87,742,528 (GRCm39) V100A probably benign Het
Slc17a7 C T 7: 44,819,350 (GRCm39) A167V probably benign Het
Slc38a6 T C 12: 73,356,949 (GRCm39) F115S probably damaging Het
Spata31h1 A G 10: 82,129,645 (GRCm39) S1122P probably benign Het
Spdye4a T C 5: 143,211,454 (GRCm39) T37A probably benign Het
Sphk2 T C 7: 45,362,024 (GRCm39) T138A possibly damaging Het
Srgap3 T C 6: 112,699,967 (GRCm39) S1004G probably damaging Het
Sult1a1 T C 7: 126,272,356 (GRCm39) probably null Het
Tmem212 A G 3: 27,938,988 (GRCm39) V166A probably benign Het
Tor4a A G 2: 25,084,952 (GRCm39) L317P probably benign Het
Trim43c A T 9: 88,722,467 (GRCm39) T38S probably benign Het
Tshz1 C A 18: 84,034,091 (GRCm39) V106F possibly damaging Het
Tut4 G T 4: 108,415,979 (GRCm39) E1648D probably damaging Het
Yap1 A G 9: 7,962,373 (GRCm39) M225T possibly damaging Het
Zfp74 T C 7: 29,635,048 (GRCm39) E220G probably damaging Het
Other mutations in Pex3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Pex3 APN 10 13,428,597 (GRCm39) splice site probably null
IGL02367:Pex3 APN 10 13,400,643 (GRCm39) missense probably benign 0.39
IGL02538:Pex3 APN 10 13,411,344 (GRCm39) missense possibly damaging 0.94
IGL02645:Pex3 APN 10 13,422,173 (GRCm39) missense possibly damaging 0.92
IGL03096:Pex3 APN 10 13,410,407 (GRCm39) splice site probably benign
R0076:Pex3 UTSW 10 13,411,338 (GRCm39) missense probably benign 0.08
R0494:Pex3 UTSW 10 13,403,532 (GRCm39) missense probably damaging 1.00
R0945:Pex3 UTSW 10 13,418,420 (GRCm39) missense probably benign 0.43
R4574:Pex3 UTSW 10 13,411,315 (GRCm39) nonsense probably null
R7549:Pex3 UTSW 10 13,418,414 (GRCm39) missense probably benign
R7751:Pex3 UTSW 10 13,403,550 (GRCm39) missense possibly damaging 0.67
R8033:Pex3 UTSW 10 13,407,024 (GRCm39) nonsense probably null
R9413:Pex3 UTSW 10 13,410,454 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGACCTTACTCTGTTTACTGC -3'
(R):5'- AGCTGTAATTCTGAGGTTGACC -3'

Sequencing Primer
(F):5'- TCCCTCAAGGAGTGGCAG -3'
(R):5'- CTGAGGTTGACCCTAATATAAACCTC -3'
Posted On 2018-05-04