Incidental Mutation 'R8789:Pmp2'
ID 670800
Institutional Source Beutler Lab
Gene Symbol Pmp2
Ensembl Gene ENSMUSG00000052468
Gene Name peripheral myelin protein 2
Synonyms P2
MMRRC Submission 068608-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R8789 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 10244911-10248945 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 10247564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 42 (I42F)
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: I42F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029034
Gene: ENSMUSG00000052468
AA Change: I42F

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency 100% (45/45)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr5 C T 2: 158,478,604 (GRCm39) Q485* probably null Het
Arsa C T 15: 89,358,260 (GRCm39) V350I probably benign Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cav2 T C 6: 17,281,996 (GRCm39) Y85H probably damaging Het
Ccdc93 A G 1: 121,424,784 (GRCm39) Q570R probably damaging Het
Cd72 A G 4: 43,452,628 (GRCm39) S122P probably damaging Het
Cep72 A G 13: 74,186,367 (GRCm39) M619T possibly damaging Het
Cers5 C A 15: 99,637,551 (GRCm39) V233F possibly damaging Het
Cntn5 A G 9: 9,673,292 (GRCm39) Y803H probably damaging Het
Crybg2 T C 4: 133,801,554 (GRCm39) S596P probably benign Het
Crybg3 T C 16: 59,375,359 (GRCm39) E251G probably benign Het
Csmd1 T A 8: 17,266,722 (GRCm39) N68I probably damaging Het
Ctr9 A G 7: 110,642,933 (GRCm39) N466S possibly damaging Het
Cyp2a4 T A 7: 26,007,106 (GRCm39) I71N probably damaging Het
Cyp2j11 C T 4: 96,227,405 (GRCm39) E204K probably damaging Het
Cyp4f39 T C 17: 32,710,848 (GRCm39) F469S probably damaging Het
Dmac2 T A 7: 25,320,495 (GRCm39) S65T probably benign Het
Duxf1 T C 10: 58,059,426 (GRCm39) N443D unknown Het
Elp3 G A 14: 65,802,870 (GRCm39) P243S probably damaging Het
Foxg1 T A 12: 49,432,143 (GRCm39) M292K probably benign Het
Fsip2 T C 2: 82,815,822 (GRCm39) S3852P possibly damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gm10912 A C 2: 103,897,046 (GRCm39) K62Q possibly damaging Het
Grk2 G A 19: 4,338,511 (GRCm39) R474C probably damaging Het
Hapstr1 T C 16: 8,660,865 (GRCm39) I114T probably benign Het
Hoxc12 T C 15: 102,846,732 (GRCm39) I208T probably benign Het
Htra3 G A 5: 35,836,602 (GRCm39) P30L unknown Het
Itgal A G 7: 126,904,421 (GRCm39) H298R probably benign Het
Klrb1c A G 6: 128,761,148 (GRCm39) S160P probably benign Het
Or13c7d A T 4: 43,770,793 (GRCm39) C73S probably damaging Het
Or2z9 T C 8: 72,854,135 (GRCm39) F177S probably damaging Het
Phrf1 T A 7: 140,836,581 (GRCm39) D284E unknown Het
Psg26 T C 7: 18,216,494 (GRCm39) D115G probably damaging Het
Pym1 T C 10: 128,601,073 (GRCm39) V32A probably benign Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Recql4 T C 15: 76,588,546 (GRCm39) H1105R probably benign Het
Rimkla T C 4: 119,349,607 (GRCm39) Y17C probably damaging Het
Rnf207 C T 4: 152,391,924 (GRCm39) R623K probably benign Het
Ros1 A T 10: 51,999,328 (GRCm39) N1207K probably damaging Het
Scg2 G T 1: 79,413,500 (GRCm39) Q368K probably benign Het
Serpinb6e G A 13: 34,017,213 (GRCm39) T269I probably damaging Het
Tsc22d2 A T 3: 58,367,438 (GRCm39) K663* probably null Het
Ubr4 T A 4: 139,137,494 (GRCm39) N1026K possibly damaging Het
Ubtfl1 A G 9: 18,321,609 (GRCm39) D379G unknown Het
Vps13d T C 4: 144,795,743 (GRCm39) M3700V Het
Zscan4-ps3 T C 7: 11,346,288 (GRCm39) L136P probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- AGTCACATTCATTCCCCAGGTC -3'
(R):5'- TGGCATCTGTCTCTTAGATATGC -3'

Sequencing Primer
(F):5'- AGGGATCATCCTAGCTCTCAGTAG -3'
(R):5'- TTAGATATGCCTCCTTAACCAACC -3'
Posted On 2021-04-30