Incidental Mutation 'IGL02350:Pmp22'
ID 289741
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 # IGL02350
Quality Score
Status
Chromosome 11
Chromosomal Location 63019808-63050373 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 63049134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 126 (V126F)
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: V126F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018361
Gene: ENSMUSG00000018217
AA Change: V126F

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: V126F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104340
Gene: ENSMUSG00000018217
AA Change: V126F

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: V126F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104341
Gene: ENSMUSG00000018217
AA Change: V126F

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: V126F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104342
Gene: ENSMUSG00000018217
AA Change: V126F

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A G 8: 71,914,121 (GRCm39) V169A probably benign Het
Adamts16 T A 13: 70,886,704 (GRCm39) T1029S probably benign Het
Adgrv1 C A 13: 81,418,974 (GRCm39) C6007F probably benign Het
Ak8 A T 2: 28,590,225 (GRCm39) H8L probably benign Het
Apol7b A G 15: 77,307,832 (GRCm39) V221A probably benign Het
BC005624 G A 2: 30,863,779 (GRCm39) P235S probably benign Het
Cd96 A G 16: 45,890,139 (GRCm39) probably benign Het
Celf1 A T 2: 90,828,933 (GRCm39) K27I probably damaging Het
Cfap65 A T 1: 74,967,507 (GRCm39) C190* probably null Het
Cib2 A T 9: 54,457,170 (GRCm39) H31Q probably damaging Het
Cyp3a59 T C 5: 146,016,152 (GRCm39) L3P probably damaging Het
Dnajc13 T C 9: 104,039,558 (GRCm39) M2104V possibly damaging Het
Dph3b-ps A G 13: 106,683,453 (GRCm39) noncoding transcript Het
Emb A G 13: 117,386,007 (GRCm39) probably benign Het
Fbn2 G T 18: 58,237,067 (GRCm39) N645K possibly damaging Het
Fes T C 7: 80,033,578 (GRCm39) probably null Het
Flnc A T 6: 29,438,492 (GRCm39) K129* probably null Het
Gckr C A 5: 31,465,134 (GRCm39) H368N possibly damaging Het
Gm5145 A T 17: 20,790,702 (GRCm39) I27F probably damaging Het
Hecw1 A G 13: 14,422,923 (GRCm39) probably null Het
Hivep3 T G 4: 119,980,222 (GRCm39) C1753W probably damaging Het
Hook2 C T 8: 85,721,614 (GRCm39) Q291* probably null Het
Jakmip2 T C 18: 43,680,192 (GRCm39) T722A possibly damaging Het
Kcnt2 A G 1: 140,279,007 (GRCm39) I53V probably benign Het
Lipo2 A G 19: 33,708,348 (GRCm39) L222P possibly damaging Het
Mrc2 A G 11: 105,216,547 (GRCm39) D112G probably damaging Het
Mroh2b A G 15: 4,941,482 (GRCm39) N338S probably benign Het
Mrpl23 T A 7: 142,089,802 (GRCm39) probably benign Het
Myo18a A G 11: 77,741,073 (GRCm39) N1442S probably benign Het
Ngdn T A 14: 55,259,393 (GRCm39) V179E probably damaging Het
Nxn A G 11: 76,165,480 (GRCm39) probably benign Het
Or10am5 T A 7: 6,518,225 (GRCm39) M68L probably damaging Het
Or2b7 A G 13: 21,739,772 (GRCm39) L140P probably damaging Het
Osmr A T 15: 6,858,144 (GRCm39) N441K probably benign Het
Plcb3 A C 19: 6,935,546 (GRCm39) L789R probably damaging Het
Plek C T 11: 16,931,846 (GRCm39) R335H probably damaging Het
Prom1 A G 5: 44,186,946 (GRCm39) probably benign Het
Prss1 C A 6: 41,440,139 (GRCm39) Q159K probably damaging Het
Psd3 G T 8: 68,416,521 (GRCm39) H459N probably benign Het
Rusc2 T G 4: 43,425,351 (GRCm39) V1152G possibly damaging Het
Slc16a4 A G 3: 107,210,415 (GRCm39) I362V probably benign Het
Slc22a22 A G 15: 57,110,844 (GRCm39) V461A probably benign Het
Slc35e4 C T 11: 3,862,640 (GRCm39) R183Q probably benign Het
Spen T C 4: 141,204,890 (GRCm39) T1246A unknown Het
Syt16 T C 12: 74,313,616 (GRCm39) V514A probably benign Het
Tdpoz2 A G 3: 93,559,735 (GRCm39) V79A possibly damaging Het
Ttn A G 2: 76,539,963 (GRCm39) V34341A probably benign Het
Vxn T C 1: 9,683,544 (GRCm39) I44T possibly damaging Het
Wwox T C 8: 115,438,882 (GRCm39) V316A possibly damaging Het
Other mutations in Pmp22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01780: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
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