Incidental Mutation 'IGL00568:Mpz'
ID 12074
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpz
Ensembl Gene ENSMUSG00000056569
Gene Name myelin protein zero
Synonyms Mpp, P0
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL00568
Quality Score
Status
Chromosome 1
Chromosomal Location 170978282-170988699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 170987571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 236 (K236E)
Ref Sequence ENSEMBL: ENSMUSP00000106966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070758] [ENSMUST00000111334]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000070758
AA Change: K236E

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000066701
Gene: ENSMUSG00000056569
AA Change: K236E

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
IGv 45 129 1.39e-11 SMART
transmembrane domain 155 177 N/A INTRINSIC
Pfam:Myelin-PO_C 184 248 4.3e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111334
AA Change: K236E

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106966
Gene: ENSMUSG00000056569
AA Change: K236E

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
IGv 45 129 1.39e-11 SMART
transmembrane domain 155 177 N/A INTRINSIC
Pfam:Myelin-PO_C 179 248 4.8e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125565
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149352
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in the orthologous gene in human are associated with myelinating neuropathies. A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. Alternatively spliced transcript variants have also been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit premature death, infertility, neurological behavior defects, and demyelination. Mice homozygous for a knock-out allele exhibit abnormal myelination and neurological behavior defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cckar T A 5: 53,864,643 (GRCm39) E19D probably benign Het
Col12a1 A G 9: 79,558,759 (GRCm39) L1902P probably damaging Het
Jam2 A G 16: 84,619,712 (GRCm39) probably benign Het
Krt72 T C 15: 101,689,450 (GRCm39) D294G probably damaging Het
Lancl2 T C 6: 57,700,470 (GRCm39) probably benign Het
Ndufs4 A T 13: 114,444,406 (GRCm39) M124K probably null Het
Ovch2 C A 7: 107,388,297 (GRCm39) D428Y probably null Het
Pcna-ps2 C A 19: 9,261,290 (GRCm39) S183* probably null Het
Pgbd1 A C 13: 21,607,423 (GRCm39) L257* probably null Het
Tlr12 G A 4: 128,511,215 (GRCm39) T345M probably benign Het
Tnrc18 T C 5: 142,748,792 (GRCm39) N1300D unknown Het
Other mutations in Mpz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03051:Mpz APN 1 170,986,380 (GRCm39) missense probably damaging 1.00
Half-pint UTSW 1 170,987,204 (GRCm39) critical splice donor site probably null
taz UTSW 1 170,986,379 (GRCm39) missense probably damaging 1.00
R0279:Mpz UTSW 1 170,987,498 (GRCm39) splice site probably benign
R0791:Mpz UTSW 1 170,986,343 (GRCm39) missense possibly damaging 0.85
R1164:Mpz UTSW 1 170,986,008 (GRCm39) missense possibly damaging 0.92
R1368:Mpz UTSW 1 170,987,533 (GRCm39) missense probably damaging 1.00
R4043:Mpz UTSW 1 170,987,340 (GRCm39) splice site probably benign
R4857:Mpz UTSW 1 170,986,379 (GRCm39) missense probably damaging 1.00
R5682:Mpz UTSW 1 170,986,463 (GRCm39) missense possibly damaging 0.62
R6709:Mpz UTSW 1 170,978,301 (GRCm39) unclassified probably benign
R7089:Mpz UTSW 1 170,987,204 (GRCm39) critical splice donor site probably null
R7748:Mpz UTSW 1 170,987,509 (GRCm39) critical splice acceptor site probably null
R7888:Mpz UTSW 1 170,987,204 (GRCm39) critical splice donor site probably null
R8023:Mpz UTSW 1 170,987,602 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06