Incidental Mutation 'R3858:Pmp22'
ID 276257
Institutional Source Beutler Lab
Gene Symbol Pmp22
Ensembl Gene ENSMUSG00000018217
Gene Name peripheral myelin protein 22
Synonyms TRE002, Gas-3
MMRRC Submission 040786-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.259) question?
Stock # R3858 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 63019808-63050373 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63025301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 45 (S45P)
Ref Sequence ENSEMBL: ENSMUSP00000104342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018361] [ENSMUST00000108700] [ENSMUST00000108701] [ENSMUST00000108702]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000018361
AA Change: S45P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000018361
Gene: ENSMUSG00000018217
AA Change: S45P

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 153 5.8e-50 PFAM
Pfam:Claudin_2 13 155 1.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108700
AA Change: S45P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104340
Gene: ENSMUSG00000018217
AA Change: S45P

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 153 5.8e-50 PFAM
Pfam:Claudin_2 13 155 1.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108701
AA Change: S45P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104341
Gene: ENSMUSG00000018217
AA Change: S45P

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 153 5.7e-50 PFAM
Pfam:Claudin_2 55 155 1.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108702
AA Change: S45P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104342
Gene: ENSMUSG00000018217
AA Change: S45P

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 153 5.8e-50 PFAM
Pfam:Claudin_2 13 155 1.1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140648
Meta Mutation Damage Score 0.0634 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (36/37)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,863,581 (GRCm39) S179T probably benign Het
Ahnak A G 19: 8,988,223 (GRCm39) E3169G possibly damaging Het
Ccdc82 G A 9: 13,251,704 (GRCm39) probably benign Het
Ccng1 A G 11: 40,644,660 (GRCm39) L79P probably damaging Het
Cd2ap G A 17: 43,127,463 (GRCm39) Q377* probably null Het
Celf1 A G 2: 90,843,086 (GRCm39) E411G probably damaging Het
Cemip2 A G 19: 21,829,598 (GRCm39) T1236A probably benign Het
Cps1 A G 1: 67,207,437 (GRCm39) Y582C probably damaging Het
Efhb A G 17: 53,769,808 (GRCm39) L167S possibly damaging Het
Erc2 A G 14: 28,197,599 (GRCm39) probably benign Het
Hs3st1 G A 5: 39,772,256 (GRCm39) T129I probably damaging Het
Irs4 T C X: 140,507,059 (GRCm39) E379G probably damaging Het
Kcnmb2 T C 3: 32,252,450 (GRCm39) V217A probably damaging Het
Megf10 T C 18: 57,408,907 (GRCm39) probably benign Het
Mib1 T A 18: 10,798,409 (GRCm39) C757S possibly damaging Het
Mtmr4 G A 11: 87,488,088 (GRCm39) V24M probably damaging Het
Obscn A G 11: 58,971,795 (GRCm39) probably benign Het
Or12d13 A T 17: 37,648,117 (GRCm39) L2* probably null Het
Or5b119 T A 19: 13,457,494 (GRCm39) I23F possibly damaging Het
Pirb T C 7: 3,720,662 (GRCm39) K279E possibly damaging Het
Pth2r A T 1: 65,361,206 (GRCm39) I52F probably damaging Het
Reck A G 4: 43,930,261 (GRCm39) T612A probably benign Het
Rtn4rl2 A G 2: 84,710,730 (GRCm39) probably null Het
Sis A G 3: 72,835,985 (GRCm39) I868T probably damaging Het
Slc23a3 A G 1: 75,106,040 (GRCm39) probably null Het
Slc4a1 A T 11: 102,247,947 (GRCm39) V349E probably benign Het
Thsd7a C T 6: 12,555,225 (GRCm39) G220S probably benign Het
Tle4 G A 19: 14,445,577 (GRCm39) T223I probably benign Het
Tor3a T A 1: 156,497,124 (GRCm39) L140F probably damaging Het
Vcf2 T C X: 149,203,357 (GRCm39) Q39R probably benign Het
Vmn2r86 A G 10: 130,291,594 (GRCm39) M57T probably benign Het
Zfp512 G T 5: 31,630,184 (GRCm39) R222L probably damaging 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
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
R8008:Pmp22 UTSW 11 63,049,233 (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'- TGGCTTGCTGATCTCACTGG -3'
(R):5'- ACTCCCTCATGAGACAGCTG -3'

Sequencing Primer
(F):5'- TGATCTCACTGGGCAGGAG -3'
(R):5'- GGATATCTGACTCTGTGACACAGTC -3'
Posted On 2015-04-06