Incidental Mutation 'IGL02423:Pmp22'
ID 292780
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pmp22
Ensembl Gene ENSMUSG00000018217
Gene Name peripheral myelin protein 22
Synonyms TRE002, Gas-3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.259) question?
Stock # IGL02423
Quality Score
Status
Chromosome 11
Chromosomal Location 63019808-63050373 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 63049118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 120 (R120S)
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 possibly damaging
Transcript: ENSMUST00000018361
AA Change: R120S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000018361
Gene: ENSMUSG00000018217
AA Change: R120S

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 153 5.8e-50 PFAM
Pfam:Claudin_2 13 155 1.1e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108700
AA Change: R120S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104340
Gene: ENSMUSG00000018217
AA Change: R120S

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 153 5.8e-50 PFAM
Pfam:Claudin_2 13 155 1.1e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108701
AA Change: R120S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104341
Gene: ENSMUSG00000018217
AA Change: R120S

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 153 5.7e-50 PFAM
Pfam:Claudin_2 55 155 1.2e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108702
AA Change: R120S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104342
Gene: ENSMUSG00000018217
AA Change: R120S

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 153 5.8e-50 PFAM
Pfam:Claudin_2 13 155 1.1e-12 PFAM
Coding Region Coverage
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abca6 A G 11: 110,109,832 (GRCm39) probably benign Het
Adarb2 A T 13: 8,619,756 (GRCm39) R81W probably damaging Het
Adgrf4 T C 17: 42,983,467 (GRCm39) I72V probably benign Het
Banp A G 8: 122,733,830 (GRCm39) I360V probably benign Het
Bmp8a C A 4: 123,210,220 (GRCm39) G289C possibly damaging Het
Car3 A T 3: 14,931,911 (GRCm39) H94L probably damaging Het
Ccdc137 G A 11: 120,350,927 (GRCm39) R108H possibly damaging Het
Cdk14 T C 5: 4,938,905 (GRCm39) N411S probably benign Het
Col4a2 A G 8: 11,483,800 (GRCm39) M907V probably benign Het
Cyp4f17 T A 17: 32,725,923 (GRCm39) W19R possibly damaging Het
Dmxl2 A G 9: 54,301,032 (GRCm39) S2360P possibly damaging Het
Eif2d T G 1: 131,081,097 (GRCm39) probably benign Het
Epx A G 11: 87,762,144 (GRCm39) I369T possibly damaging Het
Fcgbp A G 7: 27,789,378 (GRCm39) E648G probably benign Het
Fer1l4 G A 2: 155,894,827 (GRCm39) P14L probably benign Het
Folr1 A G 7: 101,507,732 (GRCm39) F236S probably benign Het
Foxj2 T G 6: 122,819,732 (GRCm39) M540R possibly damaging Het
Gtf2h1 A G 7: 46,464,824 (GRCm39) T420A probably benign Het
H2-T3 T A 17: 36,498,248 (GRCm39) T222S probably damaging Het
Ice1 A T 13: 70,740,718 (GRCm39) M2163K probably damaging Het
Inppl1 A G 7: 101,481,450 (GRCm39) V244A probably benign Het
Kansl3 A T 1: 36,391,050 (GRCm39) V373D probably damaging Het
Kdm3a A G 6: 71,590,987 (GRCm39) probably benign Het
Krtap1-3 A T 11: 99,481,680 (GRCm39) C156S unknown Het
Mab21l3 T C 3: 101,726,045 (GRCm39) D317G probably damaging Het
Nherf1 A G 11: 115,054,539 (GRCm39) probably null Het
Nox3 T C 17: 3,733,191 (GRCm39) H240R probably damaging Het
Nxn A T 11: 76,164,858 (GRCm39) S218T probably benign Het
Or5h22 A T 16: 58,894,630 (GRCm39) I271K probably benign Het
Or6c35 G A 10: 129,169,397 (GRCm39) V216I probably benign Het
Pcdhb13 T C 18: 37,577,392 (GRCm39) V590A possibly damaging Het
Pim3 T C 15: 88,747,734 (GRCm39) V200A probably benign Het
Plekha3 T C 2: 76,510,524 (GRCm39) F20L probably damaging Het
Ppp1r9a A C 6: 4,906,537 (GRCm39) D364A probably benign Het
Psd A G 19: 46,302,943 (GRCm39) F155L possibly damaging Het
Rbm22 T C 18: 60,704,891 (GRCm39) probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Ryr2 A T 13: 11,760,084 (GRCm39) F1556I probably damaging Het
Scap G A 9: 110,207,685 (GRCm39) A465T probably benign Het
Sdf2 A G 11: 78,141,844 (GRCm39) S60G probably damaging Het
Sema3a T C 5: 13,615,776 (GRCm39) I400T probably damaging Het
Ski T C 4: 155,244,191 (GRCm39) D478G probably damaging Het
Slc12a7 A T 13: 73,911,882 (GRCm39) probably benign Het
Sned1 A G 1: 93,211,322 (GRCm39) T1074A probably benign Het
Srebf2 A G 15: 82,059,298 (GRCm39) T239A probably damaging Het
Stk4 C T 2: 163,928,419 (GRCm39) H84Y probably benign Het
Syne1 G T 10: 5,318,295 (GRCm39) Q444K probably benign Het
Tecpr1 T A 5: 144,140,305 (GRCm39) I817F possibly damaging Het
Tep1 G T 14: 51,082,077 (GRCm39) Q1159K possibly damaging Het
Tmem39b G A 4: 129,572,442 (GRCm39) H387Y probably damaging Het
Tpp1 T C 7: 105,398,907 (GRCm39) H174R probably damaging Het
Ttn C T 2: 76,535,617 (GRCm39) V35134I probably benign Het
Usp34 A G 11: 23,304,900 (GRCm39) I378V probably benign Het
Vinac1 T C 2: 128,889,968 (GRCm39) E42G probably benign Het
Vmn2r1 T A 3: 63,997,665 (GRCm39) H440Q probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Zcchc7 T A 4: 44,931,244 (GRCm39) D144E possibly damaging Het
Zic4 C A 9: 91,266,228 (GRCm39) H284N probably damaging Het
Zkscan6 A G 11: 65,719,120 (GRCm39) H380R probably benign 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
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
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
Posted On 2015-04-16