Incidental Mutation 'R6709:Mpz'
ID 529033
Institutional Source Beutler Lab
Gene Symbol Mpz
Ensembl Gene ENSMUSG00000056569
Gene Name myelin protein zero
Synonyms Mpp, P0
MMRRC Submission 044827-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R6709 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 170978282-170988699 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 170978301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070758] [ENSMUST00000081560] [ENSMUST00000111334] [ENSMUST00000111336] [ENSMUST00000155798]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000070758
SMART Domains Protein: ENSMUSP00000066701
Gene: ENSMUSG00000056569

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 benign
Transcript: ENSMUST00000081560
SMART Domains Protein: ENSMUSP00000080273
Gene: ENSMUSG00000058076

DomainStartEndE-ValueType
Pfam:Sdh_cyt 12 132 2.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111334
SMART Domains Protein: ENSMUSP00000106966
Gene: ENSMUSG00000056569

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 probably benign
Transcript: ENSMUST00000111336
SMART Domains Protein: ENSMUSP00000106968
Gene: ENSMUSG00000058076

DomainStartEndE-ValueType
Pfam:Sdh_cyt 46 166 2.4e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155798
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 98% (58/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,552,779 (GRCm39) D36G possibly damaging Het
Actn1 T A 12: 80,240,418 (GRCm39) D223V probably damaging Het
Adgre1 A T 17: 57,713,917 (GRCm39) N201Y probably benign Het
Agbl4 T A 4: 111,423,979 (GRCm39) probably benign Het
Atg4d T C 9: 21,179,944 (GRCm39) Y272H probably damaging Het
Ccdc39 T C 3: 33,884,242 (GRCm39) T367A possibly damaging Het
Ceacam2 T C 7: 25,229,262 (GRCm39) T293A possibly damaging Het
Col19a1 C T 1: 24,321,577 (GRCm39) G977E probably damaging Het
Csnka2ip A T 16: 64,298,932 (GRCm39) H33Q possibly damaging Het
Cyp3a44 A T 5: 145,714,902 (GRCm39) probably null Het
Dcpp3 AGGCCATGCTGGCC AGGCC 17: 24,136,572 (GRCm39) probably benign Het
Dnah12 A G 14: 26,594,706 (GRCm39) D3492G probably damaging Het
Eepd1 A T 9: 25,394,164 (GRCm39) T143S probably benign Het
Eml2 A G 7: 18,940,136 (GRCm39) *650W probably null Het
Etv1 C T 12: 38,833,796 (GRCm39) T19I possibly damaging Het
Fam133b T C 5: 3,619,059 (GRCm39) probably benign Het
Fgd4 T C 16: 16,302,345 (GRCm39) H70R probably benign Het
Galnt11 C T 5: 25,453,851 (GRCm39) R26C probably damaging Het
Gm136 T A 4: 34,755,884 (GRCm39) Y43F probably damaging Het
Gm17409 A T 2: 58,361,088 (GRCm39) probably null Het
Gm5591 A G 7: 38,221,499 (GRCm39) I190T probably benign Het
H1f9 T A 11: 94,858,772 (GRCm39) S22R possibly damaging Het
Htra1 C T 7: 130,537,948 (GRCm39) probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ints8 A T 4: 11,221,117 (GRCm39) Y753N possibly damaging Het
Itprid2 A G 2: 79,475,276 (GRCm39) T412A probably benign Het
L3mbtl3 G A 10: 26,158,695 (GRCm39) T651I unknown Het
Ltb4r2 A C 14: 55,999,990 (GRCm39) T204P possibly damaging Het
Ltbp3 G A 19: 5,797,885 (GRCm39) probably null Het
Mlxip A T 5: 123,585,339 (GRCm39) I616F possibly damaging Het
Myh11 A G 16: 14,041,358 (GRCm39) probably null Het
Myo7a A G 7: 97,703,906 (GRCm39) L1949P probably damaging Het
Olfm2 A G 9: 20,584,009 (GRCm39) Y116H probably damaging Het
Or2t47 T C 11: 58,442,862 (GRCm39) M68V probably benign Het
Or6s1 A T 14: 51,308,286 (GRCm39) L188H probably damaging Het
Pde4d T G 13: 110,084,813 (GRCm39) L470R probably damaging Het
Plxna2 T A 1: 194,472,074 (GRCm39) N1013K probably benign Het
Ptpn13 A C 5: 103,734,622 (GRCm39) Q2118P probably benign Het
Pwwp2a C G 11: 43,595,554 (GRCm39) L240V probably damaging Het
Reep2 T C 18: 34,979,263 (GRCm39) L196P probably benign Het
Shank1 A T 7: 44,003,600 (GRCm39) N1765I probably benign Het
Slc25a13 A G 6: 6,073,440 (GRCm39) S473P possibly damaging Het
Slc33a1 C A 3: 63,852,122 (GRCm39) M450I possibly damaging Het
Slc45a2 A G 15: 11,001,216 (GRCm39) Y105C possibly damaging Het
Slc4a11 A T 2: 130,526,616 (GRCm39) L812Q probably damaging Het
Sox6 T C 7: 115,301,024 (GRCm39) probably null Het
Sv2b A T 7: 74,773,887 (GRCm39) M528K probably benign Het
Syngr4 A G 7: 45,538,122 (GRCm39) V82A probably benign Het
Tmem185b G A 1: 119,454,604 (GRCm39) V122I probably benign Het
Trdn A G 10: 33,340,587 (GRCm39) D607G probably benign Het
Trim10 T A 17: 37,183,262 (GRCm39) I186N probably damaging Het
Trp53i11 A T 2: 93,030,163 (GRCm39) M157L probably benign Het
Ubr3 C A 2: 69,843,436 (GRCm39) H1559N probably damaging Het
Usp25 A C 16: 76,880,820 (GRCm39) E727A probably benign Het
Vmn2r42 T A 7: 8,195,618 (GRCm39) R509S probably benign Het
Vmn2r69 T C 7: 85,061,069 (GRCm39) N172D probably benign Het
Zfp14 T C 7: 29,737,557 (GRCm39) Y476C probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- AGGGACTAATTCAGGTTCCCC -3'
(R):5'- GGTAAACGCACTAACGGTAAC -3'

Sequencing Primer
(F):5'- TAATTCAGGTTCCCCCAACGG -3'
(R):5'- AACCACTCGGCGATTTTGG -3'
Posted On 2018-07-24