Incidental Mutation 'R8008:Pmp22'
ID 616754
Institutional Source Beutler Lab
Gene Symbol Pmp22
Ensembl Gene ENSMUSG00000018217
Gene Name peripheral myelin protein 22
Synonyms TRE002, Gas-3
MMRRC Submission 046048-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.274) question?
Stock # R8008 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 63019808-63050373 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 63049233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 159 (R159C)
Ref Sequence ENSEMBL: ENSMUSP00000018361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018361] [ENSMUST00000108700] [ENSMUST00000108701] [ENSMUST00000108702]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000018361
AA Change: R159C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018361
Gene: ENSMUSG00000018217
AA Change: R159C

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 153 5.8e-50 PFAM
Pfam:Claudin_2 13 155 1.1e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108700
AA Change: R159C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104340
Gene: ENSMUSG00000018217
AA Change: R159C

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 153 5.8e-50 PFAM
Pfam:Claudin_2 13 155 1.1e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108701
AA Change: R159C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104341
Gene: ENSMUSG00000018217
AA Change: R159C

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 153 5.7e-50 PFAM
Pfam:Claudin_2 55 155 1.2e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108702
AA Change: R159C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104342
Gene: ENSMUSG00000018217
AA Change: R159C

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 153 5.8e-50 PFAM
Pfam:Claudin_2 13 155 1.1e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice with one or two copies of several mutations exhibit tremors, a tendency toward seizures, and partial paralysis associated with demyelination and loss of peripheral axons. Mutants have high juvenile mortality and males are often sterile. [provided by MGI curators]
Allele List at MGI

All alleles(11) : Targeted(4) Spontaneous(3) Chemically induced(4)
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,429,234 (GRCm39) I774F probably benign Het
Alpi A G 1: 87,026,384 (GRCm39) S536P unknown Het
Ankar A G 1: 72,705,643 (GRCm39) V789A possibly damaging Het
Atp5f1b C A 10: 127,919,277 (GRCm39) Q28K unknown Het
Brpf1 T C 6: 113,296,050 (GRCm39) V781A probably benign Het
Cd177 G A 7: 24,451,774 (GRCm39) S414L not run Het
Cimip3 T A 17: 47,747,661 (GRCm39) E28V probably damaging Het
Clca3b T A 3: 144,550,370 (GRCm39) T192S probably benign Het
Coro2a A T 4: 46,551,349 (GRCm39) S119T probably damaging Het
Cpped1 T C 16: 11,646,260 (GRCm39) N164S probably damaging Het
Crybg2 T A 4: 133,818,415 (GRCm39) N1390K probably damaging Het
Epn2 C T 11: 61,437,492 (GRCm39) A27T probably damaging Het
Esp34 T C 17: 38,870,490 (GRCm39) F128S possibly damaging Het
Evpl T A 11: 116,121,298 (GRCm39) N410Y probably null Het
Flnb A G 14: 7,892,155 (GRCm38) Y608C probably damaging Het
Fpr3 T C 17: 18,191,715 (GRCm39) S329P probably benign Het
Frem2 T A 3: 53,560,331 (GRCm39) N1392I probably damaging Het
Garin2 T A 12: 78,761,817 (GRCm39) D160E probably benign Het
Gpi1 G T 7: 33,917,726 (GRCm39) N249K probably damaging Het
Gpr87 T C 3: 59,087,466 (GRCm39) N13S probably benign Het
Gys2 T C 6: 142,400,243 (GRCm39) T323A probably damaging Het
Iqgap3 T C 3: 88,016,770 (GRCm39) I1084T probably damaging Het
Lrfn4 C G 19: 4,663,565 (GRCm39) G323A probably benign Het
Lrrc4c A T 2: 97,460,594 (GRCm39) S407C possibly damaging Het
Map3k20 A T 2: 72,268,613 (GRCm39) Q540L probably benign Het
Myom1 T C 17: 71,407,057 (GRCm39) V1158A probably benign Het
Ncor2 T C 5: 125,144,983 (GRCm39) D378G unknown Het
Nhsl1 T A 10: 18,284,186 (GRCm39) D42E probably damaging Het
Nr0b2 C A 4: 133,283,339 (GRCm39) A192E probably benign Het
Nt5c1b A G 12: 10,425,000 (GRCm39) D182G possibly damaging Het
Or12d14-ps1 T C 17: 37,673,265 (GRCm39) S86P probably damaging Het
Or4c115 A T 2: 88,928,059 (GRCm39) C71S probably benign Het
Or5b119 T C 19: 13,457,170 (GRCm39) T131A probably benign Het
Or5k15 T C 16: 58,710,251 (GRCm39) T111A probably benign Het
Or8b12 A T 9: 37,658,089 (GRCm39) I220F probably damaging Het
Pepd A G 7: 34,721,126 (GRCm39) N250S probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Pou3f1 C T 4: 124,552,764 (GRCm39) A422V unknown Het
Rab11fip3 A G 17: 26,286,956 (GRCm39) L399P probably damaging Het
Rragc A G 4: 123,829,340 (GRCm39) D352G probably damaging Het
Ryr2 A G 13: 11,671,980 (GRCm39) V3420A probably benign Het
Sez6 T A 11: 77,864,082 (GRCm39) Y521* probably null Het
Smc4 T C 3: 68,914,645 (GRCm39) V86A probably damaging Het
Stap2 T A 17: 56,304,790 (GRCm39) M331L probably benign Het
Syt8 G A 7: 141,992,259 (GRCm39) R89H probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Trim21 G T 7: 102,209,183 (GRCm39) T280K probably benign Het
Trim36 C A 18: 46,305,556 (GRCm39) V476F probably benign Het
Troap G T 15: 98,973,511 (GRCm39) R56L probably benign Het
Ttn A T 2: 76,667,130 (GRCm39) I11492K unknown Het
Tuft1 T C 3: 94,521,440 (GRCm39) T390A probably damaging Het
Ucp1 T C 8: 84,020,640 (GRCm39) I150T probably benign Het
Usp17lb A T 7: 104,490,481 (GRCm39) C149S possibly damaging Het
Vmn1r159 A T 7: 22,542,665 (GRCm39) N122K possibly damaging Het
Vmn1r237 T C 17: 21,534,456 (GRCm39) C60R probably damaging Het
Wdr12 A T 1: 60,128,494 (GRCm39) Y85* probably null Het
Wdr3 T C 3: 100,062,252 (GRCm39) D221G probably benign Het
Wdr97 G A 15: 76,244,832 (GRCm39) E1125K Het
Zan T C 5: 137,403,624 (GRCm39) E3974G unknown Het
Other mutations in Pmp22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01780:Pmp22 APN 11 63,049,134 (GRCm39) missense probably benign
IGL02350:Pmp22 APN 11 63,049,134 (GRCm39) missense probably benign
IGL02357:Pmp22 APN 11 63,049,134 (GRCm39) missense probably benign
IGL02423:Pmp22 APN 11 63,049,118 (GRCm39) missense possibly damaging 0.94
IGL03107:Pmp22 APN 11 63,049,135 (GRCm39) missense probably benign
PIT4431001:Pmp22 UTSW 11 63,042,067 (GRCm39) missense probably benign 0.00
R0025:Pmp22 UTSW 11 63,049,076 (GRCm39) critical splice acceptor site probably null
R0025:Pmp22 UTSW 11 63,049,076 (GRCm39) critical splice acceptor site probably null
R0453:Pmp22 UTSW 11 63,041,929 (GRCm39) intron probably benign
R0561:Pmp22 UTSW 11 63,025,250 (GRCm39) missense probably damaging 1.00
R3858:Pmp22 UTSW 11 63,025,301 (GRCm39) missense probably benign 0.00
R5107:Pmp22 UTSW 11 63,049,237 (GRCm39) missense probably damaging 0.99
R6573:Pmp22 UTSW 11 63,049,099 (GRCm39) missense probably damaging 1.00
R6574:Pmp22 UTSW 11 63,049,099 (GRCm39) missense probably damaging 1.00
R6575:Pmp22 UTSW 11 63,049,099 (GRCm39) missense probably damaging 1.00
R7455:Pmp22 UTSW 11 63,025,339 (GRCm39) splice site probably null
R7599:Pmp22 UTSW 11 63,049,174 (GRCm39) missense probably damaging 1.00
R8424:Pmp22 UTSW 11 63,023,902 (GRCm39) intron probably benign
R8506:Pmp22 UTSW 11 63,049,090 (GRCm39) missense probably damaging 1.00
R8812:Pmp22 UTSW 11 63,049,239 (GRCm39) makesense probably null
R9187:Pmp22 UTSW 11 63,025,317 (GRCm39) missense probably benign 0.02
R9187:Pmp22 UTSW 11 63,025,268 (GRCm39) missense probably benign 0.01
R9610:Pmp22 UTSW 11 63,024,065 (GRCm39) missense probably benign 0.13
R9611:Pmp22 UTSW 11 63,024,065 (GRCm39) missense probably benign 0.13
R9612:Pmp22 UTSW 11 63,024,065 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- TAGATCCCCGCAGTTACCTG -3'
(R):5'- ATTCAACACGAGGCTGACGG -3'

Sequencing Primer
(F):5'- GCTGTCTTTCTCCTCCCAGG -3'
(R):5'- ACACGAGGCTGACGGTCAAC -3'
Posted On 2020-01-23