Incidental Mutation 'IGL01992:Pmp2'
ID 183550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pmp2
Ensembl Gene ENSMUSG00000052468
Gene Name peripheral myelin protein 2
Synonyms P2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # IGL01992
Quality Score
Status
Chromosome 3
Chromosomal Location 10244911-10248945 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 10247541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 49 (Y49*)
Ref Sequence ENSEMBL: ENSMUSP00000029034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029034] [ENSMUST00000194885]
AlphaFold P24526
Predicted Effect probably null
Transcript: ENSMUST00000029034
AA Change: Y49*
SMART Domains Protein: ENSMUSP00000029034
Gene: ENSMUSG00000052468
AA Change: Y49*

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
Coding Region Coverage
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano3 A G 2: 110,488,564 (GRCm39) M956T probably damaging Het
Ap2b1 T G 11: 83,226,356 (GRCm39) V289G probably damaging Het
Cacnb4 G T 2: 52,355,682 (GRCm39) H208Q probably damaging Het
Calhm6 A T 10: 34,003,533 (GRCm39) C125S probably damaging Het
Cd5l G A 3: 87,275,118 (GRCm39) R219Q probably benign Het
Dzip1l G T 9: 99,545,739 (GRCm39) G663W probably damaging Het
Ecel1 G A 1: 87,077,577 (GRCm39) probably benign Het
Eno1 A G 4: 150,323,993 (GRCm39) T19A probably damaging Het
Fndc3a G A 14: 72,811,996 (GRCm39) T315I probably benign Het
Galr1 T C 18: 82,411,942 (GRCm39) N308S probably damaging Het
Get3 G A 8: 85,745,185 (GRCm39) A294V possibly damaging Het
Maf A T 8: 116,432,702 (GRCm39) S301T probably damaging Het
Map3k5 C T 10: 19,904,879 (GRCm39) R394* probably null Het
Mroh8 C T 2: 157,055,616 (GRCm39) G994D probably damaging Het
Myo10 T C 15: 25,799,634 (GRCm39) V653A possibly damaging Het
Nucks1 A G 1: 131,858,828 (GRCm39) K196E unknown Het
Nup42 T C 5: 24,386,101 (GRCm39) V211A probably benign Het
Or4n4 C A 14: 50,518,798 (GRCm39) R304L probably benign Het
Or7e178 A T 9: 20,226,015 (GRCm39) I59N probably damaging Het
Or7g32 A T 9: 19,408,070 (GRCm39) I9F probably benign Het
Piwil1 C T 5: 128,824,396 (GRCm39) T493I probably null Het
Plcd1 T C 9: 118,905,053 (GRCm39) H216R probably benign Het
Rnf38 A G 4: 44,138,806 (GRCm39) V229A probably damaging Het
Saxo2 T C 7: 82,284,108 (GRCm39) D250G probably damaging Het
Scn8a T G 15: 100,866,938 (GRCm39) V98G probably damaging Het
Scnn1a T A 6: 125,315,900 (GRCm39) probably null Het
Sepsecs C T 5: 52,801,402 (GRCm39) R420Q probably benign Het
Slit2 T C 5: 48,395,759 (GRCm39) S725P probably benign Het
Stk16 A G 1: 75,189,835 (GRCm39) Q207R probably benign Het
Tapt1 C T 5: 44,336,332 (GRCm39) V446M probably damaging Het
Tent5c A T 3: 100,379,946 (GRCm39) M270K probably damaging Het
Tex56 C T 13: 35,108,516 (GRCm39) probably null Het
Tnni3k A C 3: 154,667,663 (GRCm39) V250G probably damaging Het
Ttll8 C T 15: 88,799,848 (GRCm39) G531E possibly damaging Het
U2surp T A 9: 95,346,472 (GRCm39) E862D possibly damaging Het
U2surp A G 9: 95,364,234 (GRCm39) F561L probably damaging Het
Unc5d A G 8: 29,142,819 (GRCm39) Y878H probably damaging Het
Ust A G 10: 8,173,842 (GRCm39) M221T probably benign Het
Wasf3 T C 5: 146,392,401 (GRCm39) F157S probably damaging Het
Wdr64 G A 1: 175,533,637 (GRCm39) C91Y probably damaging Het
Zan T C 5: 137,422,368 (GRCm39) Y2750C unknown Het
Other mutations in Pmp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R0419:Pmp2 UTSW 3 10,245,823 (GRCm39) missense probably damaging 1.00
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
Posted On 2014-05-07