Incidental Mutation 'R8506:Pmp22'
ID 655589
Institutional Source Beutler Lab
Gene Symbol Pmp22
Ensembl Gene ENSMUSG00000018217
Gene Name peripheral myelin protein 22
Synonyms TRE002, Gas-3
MMRRC Submission 067842-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.259) question?
Stock # R8506 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 63019808-63050373 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63049090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 111 (M111K)
Ref Sequence ENSEMBL: ENSMUSP00000018361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018361] [ENSMUST00000108700] [ENSMUST00000108701] [ENSMUST00000108702]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000018361
AA Change: M111K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000018361
Gene: ENSMUSG00000018217
AA Change: M111K

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 153 5.8e-50 PFAM
Pfam:Claudin_2 13 155 1.1e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108700
AA Change: M111K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104340
Gene: ENSMUSG00000018217
AA Change: M111K

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 153 5.8e-50 PFAM
Pfam:Claudin_2 13 155 1.1e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108701
AA Change: M111K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104341
Gene: ENSMUSG00000018217
AA Change: M111K

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 153 5.7e-50 PFAM
Pfam:Claudin_2 55 155 1.2e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108702
AA Change: M111K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104342
Gene: ENSMUSG00000018217
AA Change: M111K

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 153 5.8e-50 PFAM
Pfam:Claudin_2 13 155 1.1e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik A T 9: 101,820,171 (GRCm39) E197V possibly damaging Het
Alkbh8 C T 9: 3,335,616 (GRCm39) probably benign Het
Ank1 G A 8: 23,586,851 (GRCm39) A498T probably damaging Het
Antxr1 T A 6: 87,165,155 (GRCm39) E427D possibly damaging Het
App A C 16: 84,879,704 (GRCm39) V143G unknown Het
Bod1l C A 5: 41,976,398 (GRCm39) E1639* probably null Het
C2cd2 T C 16: 97,676,621 (GRCm39) D122G Het
Ccdc88b G T 19: 6,824,690 (GRCm39) P1357T probably damaging Het
Ccnyl1 A G 1: 64,753,821 (GRCm39) T211A possibly damaging Het
Cdc25a T C 9: 109,720,820 (GRCm39) Y434H probably damaging Het
Ceacam16 C A 7: 19,586,195 (GRCm39) A106S unknown Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Chpf2 T C 5: 24,793,295 (GRCm39) L87P probably damaging Het
Col5a2 A T 1: 45,481,944 (GRCm39) I60N unknown Het
Cux1 T A 5: 136,337,358 (GRCm39) E718V probably damaging Het
Dchs2 A T 3: 83,208,481 (GRCm39) I1845L probably benign Het
Disp3 C T 4: 148,326,027 (GRCm39) V1244I possibly damaging Het
Dnah8 T C 17: 30,940,108 (GRCm39) S1685P probably benign Het
Etnppl G A 3: 130,423,122 (GRCm39) V274I possibly damaging Het
Evc2 T C 5: 37,540,486 (GRCm39) S561P probably damaging Het
Fga A G 3: 82,940,623 (GRCm39) E759G probably damaging Het
Gdpd5 T C 7: 99,103,157 (GRCm39) F372S probably benign Het
Gpr155 T C 2: 73,173,806 (GRCm39) T868A probably damaging Het
Herc1 A G 9: 66,380,863 (GRCm39) D3580G possibly damaging Het
Hmbs A G 9: 44,252,921 (GRCm39) probably null Het
Ibsp A T 5: 104,457,947 (GRCm39) E161D probably damaging Het
Ighv8-4 A G 12: 114,987,728 (GRCm39) V90A possibly damaging Het
Itpr2 A G 6: 146,319,914 (GRCm39) probably null Het
Kcnc2 T A 10: 112,291,537 (GRCm39) F242I probably damaging Het
Kcnj5 A G 9: 32,233,628 (GRCm39) I229T probably damaging Het
Lamb1 A T 12: 31,379,360 (GRCm39) L1791F probably damaging Het
Med6 A T 12: 81,641,734 (GRCm39) M1K probably null Het
Mei4 A G 9: 81,861,291 (GRCm39) D294G probably benign Het
Nat10 T C 2: 103,562,582 (GRCm39) I585V probably benign Het
Nid1 T C 13: 13,650,759 (GRCm39) V432A probably damaging Het
Nlrp4c G T 7: 6,103,775 (GRCm39) G903V possibly damaging Het
Nrf1 G A 6: 30,126,256 (GRCm39) A416T probably benign Het
Nsl1 G C 1: 190,808,832 (GRCm39) C173S unknown Het
Obsl1 G A 1: 75,482,300 (GRCm39) A190V probably benign Het
Or13a22 G A 7: 140,073,336 (GRCm39) V262I probably benign Het
Or51f1d T A 7: 102,700,709 (GRCm39) M68K probably damaging Het
Or5b3 A G 19: 13,388,604 (GRCm39) T224A possibly damaging Het
Or5w8 A T 2: 87,688,181 (GRCm39) I221F probably damaging Het
Or8k3 A G 2: 86,058,922 (GRCm39) L131P possibly damaging Het
Or8k38 T C 2: 86,488,745 (GRCm39) D19G probably benign Het
Osbpl1a G A 18: 12,901,643 (GRCm39) T621I probably benign Het
Pabpc4l G A 3: 46,400,832 (GRCm39) R271* probably null Het
Paics A T 5: 77,112,437 (GRCm39) D307V possibly damaging Het
Pcdhga9 A G 18: 37,871,737 (GRCm39) D522G probably damaging Het
Pclo T A 5: 14,590,759 (GRCm39) C1020S unknown Het
Pfkfb4 T G 9: 108,834,667 (GRCm39) D113E possibly damaging Het
Plod3 A G 5: 137,017,830 (GRCm39) Y202C probably damaging Het
Pole2 A C 12: 69,255,734 (GRCm39) S344A probably benign Het
Pom121l2 A G 13: 22,167,789 (GRCm39) T687A probably benign Het
Psmd6 A G 14: 14,114,181 (GRCm38) S313P probably damaging Het
Rd3 T G 1: 191,715,228 (GRCm39) M1R probably null Het
Rtn4ip1 G A 10: 43,804,352 (GRCm39) V235I probably benign Het
Senp5 T C 16: 31,787,719 (GRCm39) I635V probably damaging Het
Stox2 T C 8: 47,645,108 (GRCm39) E784G possibly damaging Het
Syce2 A T 8: 85,613,795 (GRCm39) D168V probably benign Het
Taar6 A G 10: 23,861,529 (GRCm39) S6P probably benign Het
Tbc1d16 A C 11: 119,039,784 (GRCm39) H675Q probably damaging Het
Tmem151b A T 17: 45,856,327 (GRCm39) I371N probably damaging Het
Trim31 A T 17: 37,218,150 (GRCm39) probably null Het
Usp48 A G 4: 137,338,029 (GRCm39) Y268C probably damaging Het
Vmn2r11 A G 5: 109,207,270 (GRCm39) S17P probably benign Het
Vmn2r110 T A 17: 20,804,627 (GRCm39) N98Y probably benign Het
Vps13b T A 15: 35,446,891 (GRCm39) D515E probably benign Het
Yeats2 T G 16: 19,971,684 (GRCm39) I42M 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
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
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'- TGTGCTGGACCCTCAGAGA -3'
(R):5'- TATGCGCGCTCAGAGCCTA -3'

Sequencing Primer
(F):5'- CTCAGAGAGGGGCGTTGG -3'
(R):5'- TCAGAGCCTAGACGGACG -3'
Posted On 2020-10-20