Incidental Mutation 'IGL03051:Mpz'
ID409043
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpz
Ensembl Gene ENSMUSG00000056569
Gene Namemyelin protein zero
SynonymsMpp, P0
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL03051
Quality Score
Status
Chromosome1
Chromosomal Location171150711-171161130 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 171158811 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 98 (R98H)
Ref Sequence ENSEMBL: ENSMUSP00000106966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070758] [ENSMUST00000111334]
Predicted Effect probably damaging
Transcript: ENSMUST00000070758
AA Change: R98H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066701
Gene: ENSMUSG00000056569
AA Change: R98H

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 probably damaging
Transcript: ENSMUST00000111334
AA Change: R98H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106966
Gene: ENSMUSG00000056569
AA Change: R98H

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G T 6: 86,987,301 probably benign Het
Abhd14a A T 9: 106,443,929 F76I possibly damaging Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Akap13 T A 7: 75,610,485 C149* probably null Het
Appbp2 A T 11: 85,191,739 D555E possibly damaging Het
Arhgap25 T C 6: 87,495,914 Q87R probably null Het
Baz1b T A 5: 135,217,225 N509K probably benign Het
Ces5a C A 8: 93,528,598 G156C probably damaging Het
Chtf18 G A 17: 25,720,964 R723W probably damaging Het
Clec4e A G 6: 123,289,733 S6P probably benign Het
Dennd4a A G 9: 64,862,414 I468V probably damaging Het
Epb41l4a A T 18: 33,874,772 Y233N probably damaging Het
Fam210b C T 2: 172,352,692 H155Y probably benign Het
Frmd4b A T 6: 97,295,982 C770* probably null Het
Gpa33 A G 1: 166,165,221 H301R probably benign Het
Gpr39 T A 1: 125,677,748 C138S probably damaging Het
Gtf2i T A 5: 134,242,914 K858* probably null Het
Ighv7-1 A T 12: 113,896,956 probably benign Het
Iglv1 T C 16: 19,085,223 T49A possibly damaging Het
Kif17 A C 4: 138,289,254 D416A probably damaging Het
Mib2 T C 4: 155,657,290 T431A probably damaging Het
Naa16 T C 14: 79,369,082 E337G probably benign Het
Odam G A 5: 87,892,476 probably benign Het
Olfr397 T A 11: 73,965,034 L142H probably benign Het
Parp2 T C 14: 50,819,348 probably benign Het
Pcdh7 T G 5: 58,129,073 S1164A probably damaging Het
Pkp4 G T 2: 59,311,762 A470S probably benign Het
Plin4 A T 17: 56,105,417 M538K possibly damaging Het
Prex2 T C 1: 11,142,665 V624A probably damaging Het
Rps6ka5 A C 12: 100,615,991 probably null Het
Simc1 T C 13: 54,526,223 S795P probably benign Het
Slc35b4 A T 6: 34,160,471 probably null Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Syt14 T C 1: 192,933,220 N486S probably benign Het
Trim59 T C 3: 69,036,873 N378S probably benign Het
Wdr17 T A 8: 54,651,314 D908V probably damaging Het
Wdr74 A G 19: 8,739,511 probably benign Het
Wisp1 T A 15: 66,906,550 C73* probably null Het
Other mutations in Mpz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00568:Mpz APN 1 171160002 missense possibly damaging 0.84
Half-pint UTSW 1 171159635 critical splice donor site probably null
taz UTSW 1 171158810 missense probably damaging 1.00
R0279:Mpz UTSW 1 171159929 splice site probably benign
R0791:Mpz UTSW 1 171158774 missense possibly damaging 0.85
R1164:Mpz UTSW 1 171158439 missense possibly damaging 0.92
R1368:Mpz UTSW 1 171159964 missense probably damaging 1.00
R4043:Mpz UTSW 1 171159771 splice site probably benign
R4857:Mpz UTSW 1 171158810 missense probably damaging 1.00
R5682:Mpz UTSW 1 171158894 missense possibly damaging 0.62
R6709:Mpz UTSW 1 171150732 unclassified probably benign
R7089:Mpz UTSW 1 171159635 critical splice donor site probably null
R7748:Mpz UTSW 1 171159940 critical splice acceptor site probably null
R7888:Mpz UTSW 1 171159635 critical splice donor site probably null
R7971:Mpz UTSW 1 171159635 critical splice donor site probably null
R8023:Mpz UTSW 1 171160033 missense probably damaging 1.00
Posted On2016-08-02