Incidental Mutation 'IGL03107:Pmp22'
ID419041
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pmp22
Ensembl Gene ENSMUSG00000018217
Gene Nameperipheral myelin protein 22
SynonymsGas-3
Accession Numbers

Ncbi RefSeq: NM_008885.2; MGI:97631

Is this an essential gene? Possibly essential (E-score: 0.534) question?
Stock #IGL03107
Quality Score
Status
Chromosome11
Chromosomal Location63128982-63159547 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 63158309 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 126 (V126A)
Ref Sequence ENSEMBL: ENSMUSP00000104342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018361] [ENSMUST00000108700] [ENSMUST00000108701] [ENSMUST00000108702]
Predicted Effect probably benign
Transcript: ENSMUST00000018361
AA Change: V126A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018361
Gene: ENSMUSG00000018217
AA Change: V126A

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: V126A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104340
Gene: ENSMUSG00000018217
AA Change: V126A

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: V126A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104341
Gene: ENSMUSG00000018217
AA Change: V126A

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: V126A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104342
Gene: ENSMUSG00000018217
AA Change: V126A

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 Strain: 2447704; 3614822
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik T A 11: 29,824,360 I366F probably damaging Het
A930003A15Rik T C 16: 19,883,768 noncoding transcript Het
Angpt4 A G 2: 151,943,422 M453V probably benign Het
Atr T A 9: 95,897,730 D1380E probably benign Het
Carmil1 A T 13: 24,094,455 M177K probably damaging Het
Cenpk T A 13: 104,242,772 I203N probably damaging Het
Cerk A T 15: 86,142,813 N165K probably benign Het
Col27a1 G A 4: 63,324,632 probably benign Het
Crb2 A T 2: 37,791,416 D757V probably benign Het
Csnk1a1 A G 18: 61,568,305 D91G probably damaging Het
Dnajc6 G T 4: 101,616,860 W486L probably damaging Het
Elmod1 C T 9: 53,934,223 probably benign Het
Ercc3 G T 18: 32,248,307 R392L possibly damaging Het
Fam135b C T 15: 71,463,561 V595I probably benign Het
Fermt1 A T 2: 132,933,139 S256T probably damaging Het
Fstl5 G T 3: 76,536,311 C321F probably damaging Het
Gpatch1 T G 7: 35,303,317 N256T probably benign Het
Gpd2 T A 2: 57,355,569 S425R probably damaging Het
Igkv4-57-1 T G 6: 69,544,590 M43L probably benign Het
Itgae A G 11: 73,113,601 Q238R probably damaging Het
Lats1 T A 10: 7,712,746 D1042E probably benign Het
Lcn8 G A 2: 25,655,365 G156D probably damaging Het
Loxl4 A C 19: 42,605,279 V224G probably benign Het
Lrp2 T A 2: 69,454,833 D3827V probably damaging Het
Neb C A 2: 52,183,825 R231S probably benign Het
Olfr123 G A 17: 37,795,788 V115I probably benign Het
Olfr1458 A T 19: 13,103,037 M89K probably benign Het
Olfr213 T G 6: 116,540,939 M162R possibly damaging Het
Olfr801 A G 10: 129,669,940 M193T probably benign Het
Olfr969 T G 9: 39,796,179 M268R probably benign Het
Pappa T G 4: 65,204,703 S758R probably damaging Het
Pced1a G A 2: 130,422,835 T61I possibly damaging Het
Pik3cg T C 12: 32,200,595 D731G probably damaging Het
Plxnb1 G A 9: 109,104,986 D761N probably benign Het
Ppp6r2 G T 15: 89,268,545 R296S probably damaging Het
Prkcq A C 2: 11,260,786 H438P probably damaging Het
Ryr1 T A 7: 29,075,199 Y2339F probably damaging Het
Scaper T C 9: 55,858,402 probably benign Het
Scp2 T A 4: 108,098,115 I144F probably benign Het
Secisbp2 T C 13: 51,652,757 probably null Het
Sema5a T A 15: 32,669,408 Y693N probably damaging Het
Sin3b T A 8: 72,753,585 I905K probably damaging Het
Slc13a3 T A 2: 165,437,307 M195L probably benign Het
Strada A G 11: 106,164,037 probably benign Het
Stx18 G A 5: 38,136,311 V294M probably damaging Het
Tbpl2 A T 2: 24,093,833 N197K probably benign Het
Tdrd9 A T 12: 112,042,840 H1060L probably damaging Het
Tm4sf5 G A 11: 70,505,397 V23M possibly damaging Het
Tmem54 C A 4: 129,110,912 L187I probably damaging Het
Tmprss5 A G 9: 49,113,228 H281R possibly damaging Het
Trim30c A G 7: 104,382,613 Y332H possibly damaging Het
Uba6 T A 5: 86,127,774 probably benign Het
Unc80 C A 1: 66,631,454 P1912Q probably damaging Het
Other mutations in Pmp22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01780:Pmp22 APN 11 63158308 missense probably benign
IGL02350:Pmp22 APN 11 63158308 missense probably benign
IGL02357:Pmp22 APN 11 63158308 missense probably benign
IGL02423:Pmp22 APN 11 63158292 missense possibly damaging 0.94
PIT4431001:Pmp22 UTSW 11 63151241 missense probably benign 0.00
R0025:Pmp22 UTSW 11 63158250 critical splice acceptor site probably null
R0025:Pmp22 UTSW 11 63158250 critical splice acceptor site probably null
R0453:Pmp22 UTSW 11 63151103 intron probably benign
R0561:Pmp22 UTSW 11 63134424 missense probably damaging 1.00
R3858:Pmp22 UTSW 11 63134475 missense probably benign 0.00
R5107:Pmp22 UTSW 11 63158411 missense probably damaging 0.99
R6573:Pmp22 UTSW 11 63158273 missense probably damaging 1.00
R6574:Pmp22 UTSW 11 63158273 missense probably damaging 1.00
R6575:Pmp22 UTSW 11 63158273 missense probably damaging 1.00
Posted On2016-08-02