Incidental Mutation 'R4451:Pxmp2'
ID 328962
Institutional Source Beutler Lab
Gene Symbol Pxmp2
Ensembl Gene ENSMUSG00000029499
Gene Name peroxisomal membrane protein 2
Synonyms 22kDa, PMP22
MMRRC Submission 041712-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R4451 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 110422152-110434036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110425531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 168 (V168E)
Ref Sequence ENSEMBL: ENSMUSP00000031472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031472] [ENSMUST00000155266]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031472
AA Change: V168E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031472
Gene: ENSMUSG00000029499
AA Change: V168E

DomainStartEndE-ValueType
low complexity region 17 35 N/A INTRINSIC
transmembrane domain 68 90 N/A INTRINSIC
low complexity region 113 125 N/A INTRINSIC
Pfam:Mpv17_PMP22 128 192 2.7e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141550
Predicted Effect probably benign
Transcript: ENSMUST00000155266
SMART Domains Protein: ENSMUSP00000117729
Gene: ENSMUSG00000029499

DomainStartEndE-ValueType
low complexity region 17 35 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 100% (43/43)
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display impaired lactation, increased serum urate levels, elevated urinary clearence of urate, and abnormal liver peroxisomal membrane permeability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 A C 5: 62,906,513 (GRCm39) F169V probably benign Het
Baiap2l1 T A 5: 144,215,362 (GRCm39) Y381F probably damaging Het
Cdc27 A T 11: 104,408,221 (GRCm39) M563K probably benign Het
Cela3b G A 4: 137,148,355 (GRCm39) probably benign Het
Cyp2c29 A T 19: 39,279,270 (GRCm39) D50V probably damaging Het
Dbpht2 A T 12: 74,345,806 (GRCm39) noncoding transcript Het
Dnah9 T A 11: 65,772,467 (GRCm39) Q3755L probably benign Het
Dnajc2 T C 5: 21,962,792 (GRCm39) T588A possibly damaging Het
Dync2h1 T A 9: 6,983,477 (GRCm39) R4022S probably benign Het
Gm20481 T G 17: 35,191,109 (GRCm39) probably benign Het
Gm7347 A G 5: 26,260,004 (GRCm39) I182T possibly damaging Het
Gns G A 10: 121,212,601 (GRCm39) G188S probably damaging Het
Grm5 T G 7: 87,724,340 (GRCm39) probably null Het
Gstm4 T C 3: 107,951,291 (GRCm39) probably null Het
Il7r T A 15: 9,513,034 (GRCm39) K158N probably benign Het
Irs1 T C 1: 82,266,749 (GRCm39) Y489C probably benign Het
Kcns1 C T 2: 164,010,598 (GRCm39) E54K possibly damaging Het
Klra5 T A 6: 129,885,797 (GRCm39) R31* probably null Het
Krt13 T C 11: 100,008,827 (GRCm39) T409A unknown Het
Lce1e C T 3: 92,614,967 (GRCm39) G127S unknown Het
Mfsd14a T C 3: 116,456,127 (GRCm39) M1V probably null Het
Micall2 T C 5: 139,692,852 (GRCm39) E891G probably damaging Het
Mpeg1 A T 19: 12,440,596 (GRCm39) K685* probably null Het
Nbea A G 3: 55,899,753 (GRCm39) probably null Het
Nup155 A G 15: 8,180,366 (GRCm39) M1148V probably benign Het
Or51aa5 A G 7: 103,167,184 (GRCm39) S136P probably damaging Het
Or5m3b T C 2: 85,872,303 (GRCm39) S215P probably damaging Het
Otof T A 5: 30,542,508 (GRCm39) D695V possibly damaging Het
Ptf1a G T 2: 19,451,092 (GRCm39) A141S possibly damaging Het
Rab11fip1 T C 8: 27,644,505 (GRCm39) K427E probably damaging Het
Susd2 A G 10: 75,475,232 (GRCm39) V526A probably damaging Het
Tbx2 T C 11: 85,731,643 (GRCm39) S647P probably damaging Het
Tg A G 15: 66,637,996 (GRCm39) T651A probably benign Het
Trim68 T A 7: 102,333,680 (GRCm39) M1L probably damaging Het
Ttn A C 2: 76,584,250 (GRCm39) L20540* probably null Het
Usf3 A T 16: 44,038,251 (GRCm39) K910N possibly damaging Het
Vmn1r14 T G 6: 57,211,213 (GRCm39) Y220D possibly damaging Het
Vmn1r209 T A 13: 22,990,668 (GRCm39) K7N probably benign Het
Other mutations in Pxmp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Pxmp2 APN 5 110,431,582 (GRCm39) missense probably benign 0.01
IGL02902:Pxmp2 APN 5 110,429,160 (GRCm39) missense probably benign
R1564:Pxmp2 UTSW 5 110,429,062 (GRCm39) critical splice donor site probably null
R4908:Pxmp2 UTSW 5 110,431,518 (GRCm39) missense probably benign 0.19
R5580:Pxmp2 UTSW 5 110,431,542 (GRCm39) missense possibly damaging 0.46
R6615:Pxmp2 UTSW 5 110,425,573 (GRCm39) missense possibly damaging 0.67
R6788:Pxmp2 UTSW 5 110,429,185 (GRCm39) missense probably benign 0.00
R6868:Pxmp2 UTSW 5 110,433,846 (GRCm39) missense probably damaging 0.99
R7217:Pxmp2 UTSW 5 110,433,771 (GRCm39) missense probably damaging 0.99
R8247:Pxmp2 UTSW 5 110,422,445 (GRCm39) missense probably damaging 1.00
R9295:Pxmp2 UTSW 5 110,433,944 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AACAGCTGCTTGGGAGTCTC -3'
(R):5'- TTGCTATGGATGGAAGGGCC -3'

Sequencing Primer
(F):5'- GGAGTCTCTGTGCAACTTTCCAG -3'
(R):5'- CCACACTACAGTTGCTATGGATGG -3'
Posted On 2015-07-21