Incidental Mutation 'R7217:Pxmp2'
ID 561530
Institutional Source Beutler Lab
Gene Symbol Pxmp2
Ensembl Gene ENSMUSG00000029499
Gene Name peroxisomal membrane protein 2
Synonyms 22kDa, PMP22
MMRRC Submission 045289-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R7217 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 110422152-110434036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110433771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 34 (V34A)
Ref Sequence ENSEMBL: ENSMUSP00000031472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007296] [ENSMUST00000031472] [ENSMUST00000112482] [ENSMUST00000155266]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000007296
SMART Domains Protein: ENSMUSP00000007296
Gene: ENSMUSG00000007080

DomainStartEndE-ValueType
POLBc 267 870 9.42e-97 SMART
Blast:POLBc 903 970 1e-28 BLAST
Blast:POLBc 1014 1073 2e-22 BLAST
Blast:POLBc 1195 1266 7e-21 BLAST
low complexity region 1275 1294 N/A INTRINSIC
Blast:DUF1744 1401 1430 2e-7 BLAST
DUF1744 1524 1924 1.9e-236 SMART
coiled coil region 1936 1963 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000031472
AA Change: V34A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031472
Gene: ENSMUSG00000029499
AA Change: V34A

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 probably benign
Transcript: ENSMUST00000112482
SMART Domains Protein: ENSMUSP00000108101
Gene: ENSMUSG00000007080

DomainStartEndE-ValueType
Pfam:DNA_pol_B_exo1 86 190 1.5e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000155266
AA Change: V34A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117729
Gene: ENSMUSG00000029499
AA Change: V34A

DomainStartEndE-ValueType
low complexity region 17 35 N/A INTRINSIC
Meta Mutation Damage Score 0.2088 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 91% (40/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik C A 5: 138,645,188 (GRCm39) H358N probably benign Het
Abcg3 A G 5: 105,087,094 (GRCm39) F543L possibly damaging Het
Asnsd1 T C 1: 53,387,352 (GRCm39) T92A probably damaging Het
Atg2a G T 19: 6,303,471 (GRCm39) probably null Het
Aven T A 2: 112,461,191 (GRCm39) N327K possibly damaging Het
Brd9 T C 13: 74,087,063 (GRCm39) V116A probably damaging Het
Car14 A G 3: 95,806,629 (GRCm39) S250P probably damaging Het
Ccdc138 T C 10: 58,345,422 (GRCm39) I138T probably benign Het
Cmya5 A G 13: 93,226,938 (GRCm39) Y2717H probably damaging Het
Eno1b C A 18: 48,180,746 (GRCm39) T308K probably damaging Het
Epha3 T C 16: 63,372,857 (GRCm39) T949A probably benign Het
Fcrl5 C T 3: 87,351,081 (GRCm39) T197M probably damaging Het
Foxp2 A T 6: 15,416,023 (GRCm39) Q664L unknown Het
Fsip2 A T 2: 82,819,412 (GRCm39) K5048N possibly damaging Het
Gcnt4 T C 13: 97,082,818 (GRCm39) L38P probably damaging Het
Gpr68 A G 12: 100,845,058 (GRCm39) V162A possibly damaging Het
Grin3a A T 4: 49,770,741 (GRCm39) M677K possibly damaging Het
Grm7 A G 6: 111,335,785 (GRCm39) Y732C probably damaging Het
H2-T15 A C 17: 36,367,235 (GRCm39) M329R probably benign Het
Hoxb4 A G 11: 96,209,906 (GRCm39) E104G probably benign Het
Kat7 A G 11: 95,182,390 (GRCm39) S237P possibly damaging Het
Kif13b T C 14: 65,010,517 (GRCm39) V1272A probably damaging Het
Kif20a T A 18: 34,762,613 (GRCm39) H495Q probably benign Het
Lama1 A T 17: 68,071,668 (GRCm39) T852S Het
Mep1b T A 18: 21,226,600 (GRCm39) D487E probably benign Het
Mki67 T C 7: 135,305,911 (GRCm39) T656A probably damaging Het
Mlh3 A G 12: 85,313,481 (GRCm39) W902R probably benign Het
Muc16 A T 9: 18,555,372 (GRCm39) Y3640* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Pkd1l2 A G 8: 117,722,536 (GRCm39) I2424T probably benign Het
Prl8a2 A G 13: 27,534,998 (GRCm39) E91G possibly damaging Het
Prpf18 A G 2: 4,650,435 (GRCm39) V65A probably benign Het
Ranbp2 T G 10: 58,287,839 (GRCm39) Y36D probably damaging Het
Rbm25 G A 12: 83,710,991 (GRCm39) R368Q unknown Het
Rims2 C A 15: 39,339,885 (GRCm39) L860M probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Scn8a A T 15: 100,868,108 (GRCm39) M318L probably benign Het
Slc35b2 A G 17: 45,875,955 (GRCm39) T55A probably benign Het
Trnp1 T C 4: 133,225,416 (GRCm39) E118G possibly damaging Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Wdfy3 A T 5: 102,049,785 (GRCm39) H1680Q probably damaging Het
Zfp131 A G 13: 120,237,377 (GRCm39) I327T probably damaging Het
Zfp729b A G 13: 67,743,367 (GRCm39) V66A probably damaging 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
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
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'- GAAGAACTCTGCCTTCCTCC -3'
(R):5'- AGAAAATGTCAGGCCGTCC -3'

Sequencing Primer
(F):5'- GGATATCTGATACGTGACCCC -3'
(R):5'- CTGTGCCCTGTGTCCCG -3'
Posted On 2019-06-26