Incidental Mutation 'IGL02423:Pmp22'
ID292780
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: 0.650) question?
Stock #IGL02423
Quality Score
Status
Chromosome11
Chromosomal Location63128982-63159547 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 63158292 bp
ZygosityHeterozygous
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]
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 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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abca6 A G 11: 110,219,006 probably benign Het
Adarb2 A T 13: 8,569,720 R81W probably damaging Het
Adgrf4 T C 17: 42,672,576 I72V probably benign Het
Banp A G 8: 122,007,091 I360V probably benign Het
Bmp8a C A 4: 123,316,427 G289C possibly damaging Het
Car3 A T 3: 14,866,851 H94L probably damaging Het
Ccdc137 G A 11: 120,460,101 R108H possibly damaging Het
Cdk14 T C 5: 4,888,905 N411S probably benign Het
Col4a2 A G 8: 11,433,800 M907V probably benign Het
Cyp4f17 T A 17: 32,506,949 W19R possibly damaging Het
Dmxl2 A G 9: 54,393,748 S2360P possibly damaging Het
Eif2d T G 1: 131,153,360 probably benign Het
Epx A G 11: 87,871,318 I369T possibly damaging Het
Fcgbp A G 7: 28,089,953 E648G probably benign Het
Fer1l4 G A 2: 156,052,907 P14L probably benign Het
Folr1 A G 7: 101,858,525 F236S probably benign Het
Foxj2 T G 6: 122,842,773 M540R possibly damaging Het
Gm14025 T C 2: 129,048,048 E42G probably benign Het
Gtf2h1 A G 7: 46,815,400 T420A probably benign Het
H2-T3 T A 17: 36,187,356 T222S probably damaging Het
Ice1 A T 13: 70,592,599 M2163K probably damaging Het
Inppl1 A G 7: 101,832,243 V244A probably benign Het
Kansl3 A T 1: 36,351,969 V373D probably damaging Het
Kdm3a A G 6: 71,614,003 probably benign Het
Krtap1-3 A T 11: 99,590,854 C156S unknown Het
Mab21l3 T C 3: 101,818,729 D317G probably damaging Het
Nox3 T C 17: 3,682,916 H240R probably damaging Het
Nxn A T 11: 76,274,032 S218T probably benign Het
Olfr190 A T 16: 59,074,267 I271K probably benign Het
Olfr781 G A 10: 129,333,528 V216I probably benign Het
Pcdhb13 T C 18: 37,444,339 V590A possibly damaging Het
Pim3 T C 15: 88,863,531 V200A probably benign Het
Plekha3 T C 2: 76,680,180 F20L probably damaging Het
Ppp1r9a A C 6: 4,906,537 D364A probably benign Het
Psd A G 19: 46,314,504 F155L possibly damaging Het
Rbm22 T C 18: 60,571,819 probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Ryr2 A T 13: 11,745,198 F1556I probably damaging Het
Scap G A 9: 110,378,617 A465T probably benign Het
Sdf2 A G 11: 78,251,018 S60G probably damaging Het
Sema3a T C 5: 13,565,809 I400T probably damaging Het
Ski T C 4: 155,159,734 D478G probably damaging Het
Slc12a7 A T 13: 73,763,763 probably benign Het
Slc9a3r1 A G 11: 115,163,713 probably null Het
Sned1 A G 1: 93,283,600 T1074A probably benign Het
Srebf2 A G 15: 82,175,097 T239A probably damaging Het
Stk4 C T 2: 164,086,499 H84Y probably benign Het
Syne1 G T 10: 5,368,295 Q444K probably benign Het
Tecpr1 T A 5: 144,203,487 I817F possibly damaging Het
Tep1 G T 14: 50,844,620 Q1159K possibly damaging Het
Tmem39b G A 4: 129,678,649 H387Y probably damaging Het
Tpp1 T C 7: 105,749,700 H174R probably damaging Het
Ttn C T 2: 76,705,273 V35134I probably benign Het
Usp34 A G 11: 23,354,900 I378V probably benign Het
Vmn2r1 T A 3: 64,090,244 H440Q probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Zcchc7 T A 4: 44,931,244 D144E possibly damaging Het
Zic4 C A 9: 91,384,175 H284N probably damaging Het
Zkscan6 A G 11: 65,828,294 H380R probably benign 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
IGL03107:Pmp22 APN 11 63158309 missense probably benign
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
R7599:Pmp22 UTSW 11 63158348 missense probably damaging 1.00
Posted On2015-04-16