Incidental Mutation 'IGL02479:Pmp2'
ID295079
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pmp2
Ensembl Gene ENSMUSG00000052468
Gene Nameperipheral myelin protein 2
SynonymsP2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #IGL02479
Quality Score
Status
Chromosome3
Chromosomal Location10179851-10183929 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 10182202 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 89 (R89S)
Ref Sequence ENSEMBL: ENSMUSP00000029034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029034] [ENSMUST00000194885]
Predicted Effect probably benign
Transcript: ENSMUST00000029034
AA Change: R89S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029034
Gene: ENSMUSG00000052468
AA Change: R89S

DomainStartEndE-ValueType
Pfam:Lipocalin 6 132 2.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194885
SMART Domains Protein: ENSMUSP00000141340
Gene: ENSMUSG00000103124

DomainStartEndE-ValueType
Pfam:Lipocalin 16 94 8.7e-14 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a temporary reduction in motor nerve conduction velocity and transitory alterations in the lipid profile of peripheral myelin but no major defects in general PNS myelin structure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T C 5: 121,501,398 Y528C probably damaging Het
Adam24 T A 8: 40,679,532 I13N probably benign Het
Arsj T C 3: 126,438,939 S445P possibly damaging Het
Btf3l4 G A 4: 108,826,176 T31I possibly damaging Het
Cask A T X: 13,557,058 D502E probably damaging Het
Cenpl T A 1: 161,083,067 S195T probably benign Het
Clhc1 T A 11: 29,578,107 I545N probably damaging Het
Clrn2 T C 5: 45,463,912 I216T probably benign Het
Csf2rb C T 15: 78,341,724 Q332* probably null Het
Cyp3a44 T C 5: 145,790,667 D284G probably benign Het
Dgka T C 10: 128,730,246 E345G probably benign Het
Dync1i2 G A 2: 71,235,979 V128I probably damaging Het
Eno3 T A 11: 70,660,888 probably benign Het
Epc2 T A 2: 49,532,135 I347K probably benign Het
F8 A T X: 75,288,240 N681K probably damaging Het
Fam207a T C 10: 77,514,327 S76G probably damaging Het
Fancm T A 12: 65,106,485 D1238E probably damaging Het
Fcna T A 2: 25,625,260 Q237L probably benign Het
Fpr2 A T 17: 17,892,812 R23S probably benign Het
Frmd3 A G 4: 74,187,515 D466G probably benign Het
Gen1 C A 12: 11,241,935 V618L probably benign Het
Gja4 T C 4: 127,312,424 E182G probably benign Het
Gsdmc T A 15: 63,777,975 I356F possibly damaging Het
Kctd19 T C 8: 105,384,768 D102G probably damaging Het
Lrit2 T C 14: 37,072,278 L433P probably damaging Het
Lrp2 G A 2: 69,464,801 probably benign Het
Luc7l3 G A 11: 94,296,909 probably benign Het
Map3k5 T A 10: 20,056,484 L458Q probably damaging Het
Mast4 A G 13: 102,742,037 S1038P probably damaging Het
Med12 A T X: 101,296,992 probably benign Het
Mtor T A 4: 148,470,584 L888M probably damaging Het
Nova1 A T 12: 46,816,918 I83N unknown Het
Obscn A G 11: 59,056,227 probably benign Het
Olfr1309 A C 2: 111,983,385 S230A probably benign Het
Olfr1320 T C X: 49,683,865 V121A probably benign Het
Olfr1426 T A 19: 12,087,905 M296L probably benign Het
Olfr420 C A 1: 174,158,954 Y60* probably null Het
Pde2a A G 7: 101,501,083 Y243C probably damaging Het
Pdzd8 T A 19: 59,299,783 K1062* probably null Het
Phc1 A T 6: 122,323,717 probably benign Het
Pik3c2g T A 6: 139,918,004 S764T probably benign Het
Prdm2 A G 4: 143,134,929 L597P probably damaging Het
Rfx6 T A 10: 51,678,328 D88E probably benign Het
Rgs9 T C 11: 109,225,652 S442G possibly damaging Het
Ror2 C T 13: 53,131,932 R82Q possibly damaging Het
Sez6 C A 11: 77,978,026 A986E possibly damaging Het
Slc5a5 T A 8: 70,888,911 M325L possibly damaging Het
Sppl2c G A 11: 104,186,937 V188I probably benign Het
Srrm3 G T 5: 135,835,249 C67F probably damaging Het
Stk31 A G 6: 49,421,688 E341G probably damaging Het
Svil A T 18: 5,099,476 M1267L probably damaging Het
Tas2r135 C T 6: 42,405,751 R75* probably null Het
Trav8d-1 T C 14: 52,778,800 S48P probably benign Het
Vrk1 A T 12: 106,051,002 Q95L probably benign Het
Wdr25 C A 12: 108,898,601 T224K probably benign Het
Wdr37 A T 13: 8,842,784 H224Q probably damaging Het
Zhx1 C T 15: 58,054,371 E160K probably damaging Het
Other mutations in Pmp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:Pmp2 APN 3 10182481 nonsense probably null
IGL02367:Pmp2 APN 3 10182500 missense probably damaging 1.00
R0419:Pmp2 UTSW 3 10180763 missense probably damaging 1.00
R1754:Pmp2 UTSW 3 10182224 critical splice acceptor site probably null
R1943:Pmp2 UTSW 3 10182510 missense probably benign 0.01
R5141:Pmp2 UTSW 3 10182414 missense probably benign 0.02
R5647:Pmp2 UTSW 3 10183785 missense probably benign
R6749:Pmp2 UTSW 3 10182482 missense probably benign 0.32
Posted On2015-04-16