Incidental Mutation 'R6615:Pxmp2'
ID 523921
Institutional Source Beutler Lab
Gene Symbol Pxmp2
Ensembl Gene ENSMUSG00000029499
Gene Name peroxisomal membrane protein 2
Synonyms 22kDa, PMP22
MMRRC Submission 044738-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # R6615 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 110422152-110434036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 110425573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 154 (W154L)
Ref Sequence ENSEMBL: ENSMUSP00000031472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031472] [ENSMUST00000155266]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000031472
AA Change: W154L

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031472
Gene: ENSMUSG00000029499
AA Change: W154L

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 0.8117 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.4%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Avl9 T C 6: 56,730,870 (GRCm39) V598A probably benign Het
Bcar3 T A 3: 122,220,282 (GRCm39) S60T probably benign Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Homo
Calm3 A G 7: 16,651,508 (GRCm39) probably null Het
Ccdc113 A C 8: 96,272,620 (GRCm39) E242D probably benign Het
Celsr1 C T 15: 85,786,315 (GRCm39) probably null Het
Clhc1 T A 11: 29,528,149 (GRCm39) M559K possibly damaging Het
Dhx36 T A 3: 62,396,338 (GRCm39) I440L probably benign Het
Dnah7c A T 1: 46,554,599 (GRCm39) T445S probably benign Het
Dnah7c A G 1: 46,688,511 (GRCm39) S1894G probably benign Het
Dnah7c C A 1: 46,688,500 (GRCm39) T1890K probably benign Het
Dsc2 T A 18: 20,165,576 (GRCm39) H843L possibly damaging Het
F11 T C 8: 45,701,811 (GRCm39) Y333C probably benign Het
Fbxo41 T C 6: 85,455,505 (GRCm39) T560A possibly damaging Het
Fbxo7 A T 10: 85,880,398 (GRCm39) H282L possibly damaging Het
Gmnc T G 16: 26,779,278 (GRCm39) D243A probably benign Het
Hdac5 C A 11: 102,087,882 (GRCm39) probably null Het
Krt87 A G 15: 101,334,443 (GRCm39) V188A probably benign Het
Lpxn G A 19: 12,802,163 (GRCm39) V163M probably benign Het
Lrrk1 A T 7: 65,931,396 (GRCm39) L55Q probably damaging Het
Ltbp2 C T 12: 84,860,091 (GRCm39) C621Y probably damaging Het
Marchf8 A G 6: 116,382,624 (GRCm39) E147G probably damaging Het
Muc16 T G 9: 18,558,484 (GRCm39) H2603P unknown Het
Nipa1 T A 7: 55,629,571 (GRCm39) N181Y probably damaging Het
Nt5el T A 13: 105,248,993 (GRCm39) N402K probably damaging Het
Or14c45 A G 7: 86,176,120 (GRCm39) T52A probably benign Het
Or2h2c G A 17: 37,422,494 (GRCm39) P127S probably damaging Het
Or4k37 A G 2: 111,159,457 (GRCm39) D231G probably benign Het
Or51f23c-ps1 T C 7: 102,430,994 (GRCm39) F104L probably damaging Het
Or7g35 A G 9: 19,496,285 (GRCm39) I151V probably benign Het
Pcf11 T A 7: 92,307,090 (GRCm39) Q1026L probably damaging Het
Ptch1 T G 13: 63,687,644 (GRCm39) K378T possibly damaging Het
Ptprm C T 17: 67,660,951 (GRCm39) probably null Het
Rdh7 T G 10: 127,720,491 (GRCm39) S294R probably damaging Het
Rexo1 C T 10: 80,379,848 (GRCm39) R994Q possibly damaging Het
Sacs A G 14: 61,446,383 (GRCm39) T2810A probably benign Het
Serpina3c A T 12: 104,117,980 (GRCm39) H119Q possibly damaging Het
Slc12a2 T G 18: 58,031,200 (GRCm39) I335R probably damaging Het
Slc25a13 C T 6: 6,073,454 (GRCm39) R468Q probably damaging Het
Slc5a6 C T 5: 31,194,174 (GRCm39) V628I probably benign Het
Srsf2 T C 11: 116,743,905 (GRCm39) probably null Het
Sugp2 A G 8: 70,695,420 (GRCm39) Q131R possibly damaging Het
Syne1 T C 10: 5,251,340 (GRCm39) R2525G probably damaging Het
Tars3 T C 7: 65,327,890 (GRCm39) F533S probably damaging Het
Tmem8b G T 4: 43,682,249 (GRCm39) G82W probably damaging Het
Unc13c A G 9: 73,837,890 (GRCm39) I987T possibly damaging Het
Usp44 T C 10: 93,682,351 (GRCm39) V267A possibly damaging Het
Wac C A 18: 7,868,884 (GRCm39) probably null Het
Xkr5 T C 8: 18,983,569 (GRCm39) I658V probably benign Het
Zbtb38 A T 9: 96,568,707 (GRCm39) Y792* probably null 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
R4451:Pxmp2 UTSW 5 110,425,531 (GRCm39) missense probably damaging 0.99
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
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'- GGGAGTCTCTGTGCAACTTTC -3'
(R):5'- CACACTACAGTTGCTATGGATGG -3'

Sequencing Primer
(F):5'- TCTGAATCCAGAGCTCACGG -3'
(R):5'- GAAGGGCCACACTACAGTTGC -3'
Posted On 2018-06-22