Incidental Mutation 'R1754:Pmp2'
ID 193814
Institutional Source Beutler Lab
Gene Symbol Pmp2
Ensembl Gene ENSMUSG00000052468
Gene Name peripheral myelin protein 2
Synonyms P2
MMRRC Submission 039786-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R1754 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 10179851-10183929 bp(-) (GRCm38)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 10182224 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029034] [ENSMUST00000194885]
AlphaFold P24526
Predicted Effect probably null
Transcript: ENSMUST00000029034
SMART Domains Protein: ENSMUSP00000029034
Gene: ENSMUSG00000052468

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

Pfam:Lipocalin 16 94 8.7e-14 PFAM
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.3%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563D23Rik A G 16: 92,321,031 (GRCm38) V123A probably damaging Het
Abca2 T A 2: 25,434,333 (GRCm38) L234M probably benign Het
Abca3 G A 17: 24,377,779 (GRCm38) S402N probably benign Het
Acad12 A T 5: 121,607,481 (GRCm38) V249D probably benign Het
Acp4 T C 7: 44,255,004 (GRCm38) I212V probably benign Het
Actl6a T A 3: 32,718,574 (GRCm38) V233D probably damaging Het
Aire T A 10: 78,030,290 (GRCm38) Q533L probably damaging Het
Aldh3b3 T C 19: 3,968,517 (GRCm38) S411P probably benign Het
Amer2 A G 14: 60,379,757 (GRCm38) K467R probably damaging Het
Apol9b A T 15: 77,735,762 (GRCm38) I253F probably benign Het
Arid1b A G 17: 5,279,201 (GRCm38) probably null Het
Atp6v0a4 T C 6: 38,067,829 (GRCm38) T494A probably benign Het
Atp6v1b2 A G 8: 69,101,961 (GRCm38) D106G probably benign Het
Avpr1b T C 1: 131,600,101 (GRCm38) S121P probably damaging Het
Bcl11a A C 11: 24,164,724 (GRCm38) E689A probably damaging Het
Brpf3 T G 17: 28,821,323 (GRCm38) L906R probably benign Het
Btn1a1 T C 13: 23,460,468 (GRCm38) K287E probably benign Het
Cacna1i A G 15: 80,371,529 (GRCm38) H871R probably damaging Het
Cd14 A T 18: 36,725,514 (GRCm38) L296Q probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm38) probably benign Het
Colgalt1 G T 8: 71,623,179 (GRCm38) W490L probably damaging Het
Ctnna2 A G 6: 77,636,749 (GRCm38) I273T possibly damaging Het
Dnah7a A T 1: 53,504,185 (GRCm38) D2275E probably benign Het
Dnah7a A C 1: 53,561,900 (GRCm38) probably null Het
Egfem1 T C 3: 29,668,333 (GRCm38) Y404H possibly damaging Het
Esm1 A T 13: 113,216,696 (GRCm38) N171Y probably damaging Het
Exoc1 T G 5: 76,560,322 (GRCm38) probably null Het
Fcho1 A G 8: 71,711,246 (GRCm38) I580T probably benign Het
Fgfr1 A G 8: 25,570,210 (GRCm38) H552R probably damaging Het
Fsbp A G 4: 11,583,906 (GRCm38) R202G probably damaging Het
Gabra6 A G 11: 42,316,561 (GRCm38) V231A probably damaging Het
Gm8765 A T 13: 50,701,087 (GRCm38) T254S probably damaging Het
Gmeb1 A G 4: 132,232,027 (GRCm38) S239P probably benign Het
Gnpat T A 8: 124,877,006 (GRCm38) Y208N probably damaging Het
Il21 T C 3: 37,225,525 (GRCm38) K114R possibly damaging Het
Inhbc T C 10: 127,370,293 (GRCm38) D35G possibly damaging Het
Inpp4b A T 8: 81,770,811 (GRCm38) T87S probably damaging Het
Kcns2 T C 15: 34,839,517 (GRCm38) I342T possibly damaging Het
Ky A T 9: 102,541,927 (GRCm38) T378S possibly damaging Het
Lcat CAT C 8: 105,941,814 (GRCm38) probably null Het
Lrrc8d T C 5: 105,812,657 (GRCm38) V311A probably benign Het
Mief1 A G 15: 80,249,602 (GRCm38) I287V probably damaging Het
Mrpl47 A G 3: 32,730,084 (GRCm38) V179A probably benign Het
Mtcl1 T C 17: 66,380,183 (GRCm38) K576R probably damaging Het
Myh10 C A 11: 68,813,058 (GRCm38) A1902E probably damaging Het
Nlrp3 A G 11: 59,558,402 (GRCm38) T837A possibly damaging Het
Nr1i3 T C 1: 171,217,394 (GRCm38) Y132H probably damaging Het
Oit3 T C 10: 59,427,940 (GRCm38) probably null Het
Olfr1186 A T 2: 88,525,815 (GRCm38) R77S probably damaging Het
Olfr1467 T C 19: 13,365,353 (GRCm38) S242P probably damaging Het
Olfr193 T A 16: 59,110,581 (GRCm38) I10F probably benign Het
Olfr30 A T 11: 58,455,262 (GRCm38) M229K probably damaging Het
Olfr427 A G 1: 174,100,033 (GRCm38) T192A probably benign Het
Olfr533 A T 7: 140,466,860 (GRCm38) I220F probably damaging Het
Olfr8 T A 10: 78,955,697 (GRCm38) V164E probably damaging Het
Olfr825 G A 10: 130,163,164 (GRCm38) T54I probably benign Het
Pdlim4 T C 11: 54,055,873 (GRCm38) E196G possibly damaging Het
Pigs A G 11: 78,337,847 (GRCm38) Y293C probably damaging Het
Pkd1l2 A T 8: 117,030,719 (GRCm38) S1527T possibly damaging Het
Pkd2l1 A T 19: 44,155,601 (GRCm38) Y344* probably null Het
Polr3e T C 7: 120,939,298 (GRCm38) probably null Het
Ppp3ca C G 3: 136,881,448 (GRCm38) I230M probably benign Het
Ppp5c T C 7: 17,005,310 (GRCm38) H463R probably benign Het
Ptger1 A G 8: 83,669,297 (GRCm38) N328D probably benign Het
Rhno1 A T 6: 128,357,859 (GRCm38) I167N probably benign Het
Rictor C A 15: 6,735,368 (GRCm38) P34H probably damaging Het
Rnf10 A C 5: 115,245,865 (GRCm38) S630R probably damaging Het
Rnf168 A G 16: 32,299,124 (GRCm38) Q501R probably benign Het
Rngtt T G 4: 33,329,634 (GRCm38) probably null Het
Samd9l G T 6: 3,373,126 (GRCm38) F1378L probably damaging Het
Slc9c1 T A 16: 45,589,509 (GRCm38) M864K probably benign Het
Slitrk5 T C 14: 111,680,519 (GRCm38) F525S probably damaging Het
Sox6 T C 7: 115,477,055 (GRCm38) M784V probably benign Het
Spint2 C T 7: 29,260,366 (GRCm38) probably null Het
Ssh1 A T 5: 113,955,845 (GRCm38) I276N probably damaging Het
Trank1 T A 9: 111,392,871 (GRCm38) V2892D probably benign Het
Ttn C A 2: 76,751,040 (GRCm38) E21424* probably null Het
Usp17lc T C 7: 103,418,848 (GRCm38) I450T probably benign Het
Vcan A G 13: 89,704,735 (GRCm38) V702A probably benign Het
Vmn1r36 TA TAA 6: 66,716,533 (GRCm38) probably null Het
Vmn2r51 G T 7: 10,099,946 (GRCm38) D388E probably benign Het
Zfp106 A C 2: 120,533,764 (GRCm38) S721A probably damaging Het
Zfp106 G A 2: 120,533,763 (GRCm38) S721L probably damaging Het
Zfp189 T A 4: 49,529,342 (GRCm38) H148Q possibly damaging Het
Zfp352 A T 4: 90,223,809 (GRCm38) Y62F probably benign Het
Zfp839 T C 12: 110,855,457 (GRCm38) V235A probably damaging Het
Zfp871 T C 17: 32,775,334 (GRCm38) Y289C probably damaging Het
Other mutations in Pmp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:Pmp2 APN 3 10,182,481 (GRCm38) nonsense probably null
IGL02367:Pmp2 APN 3 10,182,500 (GRCm38) missense probably damaging 1.00
IGL02479:Pmp2 APN 3 10,182,202 (GRCm38) missense probably benign 0.00
R0419:Pmp2 UTSW 3 10,180,763 (GRCm38) missense probably damaging 1.00
R1943:Pmp2 UTSW 3 10,182,510 (GRCm38) missense probably benign 0.01
R5141:Pmp2 UTSW 3 10,182,414 (GRCm38) missense probably benign 0.02
R5647:Pmp2 UTSW 3 10,183,785 (GRCm38) missense probably benign
R6749:Pmp2 UTSW 3 10,182,482 (GRCm38) missense probably benign 0.32
R8789:Pmp2 UTSW 3 10,182,504 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-23