Incidental Mutation 'R8023:Mpz'
ID 617501
Institutional Source Beutler Lab
Gene Symbol Mpz
Ensembl Gene ENSMUSG00000056569
Gene Name myelin protein zero
Synonyms Mpp, P0
MMRRC Submission 067462-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R8023 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 170978282-170988699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 170987602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 246 (D246G)
Ref Sequence ENSEMBL: ENSMUSP00000066701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070758] [ENSMUST00000111334]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000070758
AA Change: D246G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066701
Gene: ENSMUSG00000056569
AA Change: D246G

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: D246G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106966
Gene: ENSMUSG00000056569
AA Change: D246G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg2 A G 17: 57,152,448 (GRCm39) Y665H probably damaging Het
Acte1 T C 7: 143,445,528 (GRCm39) S192P probably damaging Het
Agbl4 T A 4: 111,474,345 (GRCm39) V378E probably benign Het
Card9 T C 2: 26,247,327 (GRCm39) D274G probably benign Het
Ccnc T C 4: 21,747,578 (GRCm39) probably null Het
Col1a2 T G 6: 4,533,847 (GRCm39) S843A unknown Het
Cux1 T A 5: 136,402,251 (GRCm39) I111F probably damaging Het
Fam24b A C 7: 130,927,869 (GRCm39) S107A probably benign Het
Fndc7 C T 3: 108,774,461 (GRCm39) C599Y probably damaging Het
Gm3604 G A 13: 62,517,683 (GRCm39) A225V probably damaging Het
Grhl3 A G 4: 135,277,640 (GRCm39) V475A probably benign Het
H2ac20 A G 3: 96,128,106 (GRCm39) S19P unknown Het
Heg1 T A 16: 33,550,895 (GRCm39) V958E possibly damaging Het
Hibch T C 1: 52,899,197 (GRCm39) M30T probably benign Het
Hk2 T A 6: 82,705,790 (GRCm39) M838L probably benign Het
Hpd A G 5: 123,314,297 (GRCm39) F206S probably damaging Het
Il34 C T 8: 111,469,284 (GRCm39) C177Y probably damaging Het
Il6ra A G 3: 89,820,260 (GRCm39) probably null Het
Itpr2 A G 6: 146,088,988 (GRCm39) I2240T probably damaging Het
Med24 A G 11: 98,609,321 (GRCm39) probably null Het
Ncam1 C A 9: 49,421,057 (GRCm39) A753S probably benign Het
Ndufs2 A T 1: 171,064,263 (GRCm39) M375K probably damaging Het
Obox2 A G 7: 15,131,145 (GRCm39) K84E possibly damaging Het
Or4c31 A G 2: 88,292,022 (GRCm39) I132V probably benign Het
Or51k1 A G 7: 103,661,006 (GRCm39) I301T probably damaging Het
Or7e178 C T 9: 20,225,545 (GRCm39) V224I probably benign Het
Pds5a A T 5: 65,795,241 (GRCm39) L665Q probably damaging Het
Prr29 A G 11: 106,267,099 (GRCm39) E38G probably benign Het
Ptpn3 G C 4: 57,248,688 (GRCm39) D215E probably benign Het
Ptprq G A 10: 107,488,477 (GRCm39) Q987* probably null Het
Ranbp6 T C 19: 29,789,222 (GRCm39) S377G possibly damaging Het
Rps6ka1 A T 4: 133,594,506 (GRCm39) L168Q probably damaging Het
Sall1 A G 8: 89,759,171 (GRCm39) I311T probably damaging Het
Satb2 T C 1: 56,930,390 (GRCm39) Y211C probably damaging Het
Sis T A 3: 72,859,813 (GRCm39) Y314F probably damaging Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slc6a20a T C 9: 123,489,657 (GRCm39) N129D probably damaging Het
Slu7 G A 11: 43,336,975 (GRCm39) R572Q probably benign Het
Tbx6 C T 7: 126,382,031 (GRCm39) A123V possibly damaging Het
Tcn2 A T 11: 3,877,579 (GRCm39) I23K possibly damaging Het
Tiparp A G 3: 65,439,224 (GRCm39) D180G probably benign Het
Tln2 A G 9: 67,131,346 (GRCm39) L1400P probably damaging Het
Ttf2 T C 3: 100,863,571 (GRCm39) T588A probably benign Het
Ttn A G 2: 76,769,564 (GRCm39) V2741A unknown Het
Txlna A T 4: 129,533,278 (GRCm39) S83R probably damaging Het
Vmn2r16 C T 5: 109,488,272 (GRCm39) Q382* probably null Het
Vmn2r76 A G 7: 85,879,028 (GRCm39) V424A probably benign Het
Zfc3h1 T A 10: 115,256,553 (GRCm39) L1508I probably damaging Het
Zfp189 G A 4: 49,530,312 (GRCm39) G472R probably damaging Het
Zfp462 G A 4: 55,073,106 (GRCm39) probably null Het
Other mutations in Mpz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00568:Mpz APN 1 170,987,571 (GRCm39) missense possibly damaging 0.84
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
Predicted Primers PCR Primer
(F):5'- CTTCGAAGGACTCCTCGAAG -3'
(R):5'- CCATCATGTTCTTGAGGGCG -3'

Sequencing Primer
(F):5'- CAGGTTAGTAGGGCTTGGGAC -3'
(R):5'- CGTTCTTGAGGCTGGTTCTAC -3'
Posted On 2020-01-23