Incidental Mutation 'R0419:Pmp2'
ID 36910
Institutional Source Beutler Lab
Gene Symbol Pmp2
Ensembl Gene ENSMUSG00000052468
Gene Name peripheral myelin protein 2
Synonyms P2
MMRRC Submission 038621-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R0419 (G1)
Quality Score 122
Status Validated
Chromosome 3
Chromosomal Location 10244911-10248945 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10245823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 129 (Y129C)
Ref Sequence ENSEMBL: ENSMUSP00000029034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029034] [ENSMUST00000194885]
AlphaFold P24526
Predicted Effect probably damaging
Transcript: ENSMUST00000029034
AA Change: Y129C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029034
Gene: ENSMUSG00000052468
AA Change: Y129C

DomainStartEndE-ValueType
Pfam:Lipocalin 6 132 2.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194885
SMART Domains Protein: ENSMUSP00000141340
Gene: ENSMUSG00000103124

DomainStartEndE-ValueType
Pfam:Lipocalin 16 94 8.7e-14 PFAM
Meta Mutation Damage Score 0.5964 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.8%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a temporary reduction in motor nerve conduction velocity and transitory alterations in the lipid profile of peripheral myelin but no major defects in general PNS myelin structure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T C 8: 13,601,842 (GRCm39) probably benign Het
5730507C01Rik A T 12: 18,583,424 (GRCm39) R161S possibly damaging Het
Adamts5 T C 16: 85,663,530 (GRCm39) I735V probably benign Het
Arid1a G T 4: 133,408,435 (GRCm39) P2024Q unknown Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
B3galt4 T C 17: 34,169,764 (GRCm39) Y158C probably damaging Het
BC049715 A G 6: 136,817,143 (GRCm39) T128A possibly damaging Het
Btaf1 T A 19: 36,922,629 (GRCm39) I11N probably damaging Het
Cfb T C 17: 35,077,485 (GRCm39) I496V probably damaging Het
Chd8 A T 14: 52,441,517 (GRCm39) H858Q probably benign Het
Chrne T C 11: 70,506,549 (GRCm39) I324V probably benign Het
Clec14a T C 12: 58,314,451 (GRCm39) I390M probably damaging Het
Cpsf3 A G 12: 21,347,800 (GRCm39) Y207C probably damaging Het
Cubn A C 2: 13,474,574 (GRCm39) I410S possibly damaging Het
Cubn T A 2: 13,474,575 (GRCm39) I410F possibly damaging Het
Dlc1 T C 8: 37,050,740 (GRCm39) E997G possibly damaging Het
Emilin1 G T 5: 31,072,366 (GRCm39) V71F probably damaging Het
Esrp2 T C 8: 106,861,307 (GRCm39) E164G probably damaging Het
Fars2 A G 13: 36,721,285 (GRCm39) T410A probably benign Het
Fat3 A G 9: 15,903,552 (GRCm39) V2981A probably damaging Het
Fkbp15 G A 4: 62,244,373 (GRCm39) T472I probably benign Het
Gm6871 A G 7: 41,222,869 (GRCm39) V73A probably benign Het
Gnl2 T G 4: 124,947,320 (GRCm39) S647R probably benign Het
Grb10 T C 11: 11,884,207 (GRCm39) I500V possibly damaging Het
Herc1 T C 9: 66,353,356 (GRCm39) probably benign Het
Iqgap2 A C 13: 95,826,207 (GRCm39) probably null Het
Kcnu1 A T 8: 26,427,646 (GRCm39) N321I probably benign Het
Kif23 G A 9: 61,833,687 (GRCm39) R519* probably null Het
Klhl1 C T 14: 96,619,225 (GRCm39) R224Q probably benign Het
Lama1 T C 17: 68,098,605 (GRCm39) probably null Het
Lamp3 T C 16: 19,492,302 (GRCm39) Y314C probably damaging Het
Lamtor5 C A 3: 107,189,227 (GRCm39) R88S probably damaging Het
Nbea G T 3: 55,726,715 (GRCm39) A2088E probably benign Het
Neo1 A G 9: 58,897,463 (GRCm39) probably benign Het
Ntn4 A T 10: 93,518,291 (GRCm39) R199S probably benign Het
Or5ap2 A T 2: 85,680,311 (GRCm39) R172* probably null Het
Plekho2 A G 9: 65,464,334 (GRCm39) S172P possibly damaging Het
Prss3b T C 6: 41,011,281 (GRCm39) N34D probably benign Het
Ralgapa2 A T 2: 146,270,592 (GRCm39) M578K possibly damaging Het
Ranbp3 C T 17: 57,015,219 (GRCm39) T307M possibly damaging Het
Serpinb11 G A 1: 107,304,590 (GRCm39) W185* probably null Het
Setdb2 A T 14: 59,644,193 (GRCm39) probably null Het
Sirpb1b A T 3: 15,613,656 (GRCm39) V75E probably damaging Het
Slc13a1 A T 6: 24,100,292 (GRCm39) L397Q probably damaging Het
Slc19a1 T A 10: 76,878,742 (GRCm39) I355N probably damaging Het
Slc51a T A 16: 32,295,254 (GRCm39) I275F possibly damaging Het
Spink14 T C 18: 44,164,934 (GRCm39) S84P probably damaging Het
Stx2 A G 5: 129,070,641 (GRCm39) probably benign Het
Tgfbi G T 13: 56,780,006 (GRCm39) probably benign Het
Tshr T A 12: 91,504,643 (GRCm39) M527K probably damaging Het
Upb1 T C 10: 75,248,717 (GRCm39) V79A probably damaging Het
Zdhhc5 A T 2: 84,521,587 (GRCm39) probably null Het
Zfp11 C T 5: 129,735,302 (GRCm39) G53E possibly damaging Het
Zfp280d T C 9: 72,219,519 (GRCm39) V32A probably benign Het
Other mutations in Pmp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:Pmp2 APN 3 10,247,541 (GRCm39) nonsense probably null
IGL02367:Pmp2 APN 3 10,247,560 (GRCm39) missense probably damaging 1.00
IGL02479:Pmp2 APN 3 10,247,262 (GRCm39) missense probably benign 0.00
R1754:Pmp2 UTSW 3 10,247,284 (GRCm39) critical splice acceptor site probably null
R1943:Pmp2 UTSW 3 10,247,570 (GRCm39) missense probably benign 0.01
R5141:Pmp2 UTSW 3 10,247,474 (GRCm39) missense probably benign 0.02
R5647:Pmp2 UTSW 3 10,248,845 (GRCm39) missense probably benign
R6749:Pmp2 UTSW 3 10,247,542 (GRCm39) missense probably benign 0.32
R8789:Pmp2 UTSW 3 10,247,564 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATGGGATGTCTGTTGTCTAGTCCATACA -3'
(R):5'- GGCTGCTCTTTGGGTAAGGCAAAT -3'

Sequencing Primer
(F):5'- CTGTTGTCTAGTCCATACAGAAGG -3'
(R):5'- tcccccacctcaattaccc -3'
Posted On 2013-05-09