Incidental Mutation 'R1164:Mpz'
ID100760
Institutional Source Beutler Lab
Gene Symbol Mpz
Ensembl Gene ENSMUSG00000056569
Gene Namemyelin protein zero
SynonymsMpp, P0
MMRRC Submission 039237-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.240) question?
Stock #R1164 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location171150711-171161130 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 171158439 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 49 (H49R)
Ref Sequence ENSEMBL: ENSMUSP00000106966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070758] [ENSMUST00000111334]
Predicted Effect possibly damaging
Transcript: ENSMUST00000070758
AA Change: H49R

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066701
Gene: ENSMUSG00000056569
AA Change: H49R

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: H49R

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106966
Gene: ENSMUSG00000056569
AA Change: H49R

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
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,402,331 M1055K probably damaging Het
Adprh A T 16: 38,450,340 D34E probably benign Het
Aldh1a1 A T 19: 20,617,946 M80L probably benign Het
Arap2 T A 5: 62,683,477 D682V probably damaging Het
Atp4a T A 7: 30,717,692 L500Q probably benign Het
Atp6v1c2 T C 12: 17,308,316 E10G probably damaging Het
B4galt2 G A 4: 117,876,944 R299W possibly damaging Het
Brinp1 A C 4: 68,798,691 S307A probably benign Het
Cacna2d1 G A 5: 16,361,876 probably null Het
Ccdc3 T C 2: 5,141,266 V137A possibly damaging Het
Ccnb1ip1 T C 14: 50,792,137 K156R possibly damaging Het
Cfap77 A T 2: 28,962,688 W191R probably damaging Het
Chga A G 12: 102,563,045 E427G probably damaging Het
Chrnd A T 1: 87,192,545 Y32F probably benign Het
Cks1b C A 3: 89,415,942 probably benign Het
Creld2 G A 15: 88,820,631 W103* probably null Het
Dip2a C A 10: 76,276,397 R1098L possibly damaging Het
Dmbx1 T A 4: 115,918,258 H275L probably damaging Het
Dmrt2 A G 19: 25,677,993 M319V possibly damaging Het
Dock8 A G 19: 25,090,027 Y345C probably benign Het
Dpp6 A G 5: 27,721,105 T668A probably benign Het
Eef1d A G 15: 75,902,677 probably null Het
Epb41l3 A G 17: 69,274,767 T568A possibly damaging Het
Erc2 A G 14: 28,302,972 R603G probably damaging Het
Fam83d T C 2: 158,783,250 S254P probably damaging Het
Fcgr4 A T 1: 171,029,170 H202L possibly damaging Het
Gm38394 G A 1: 133,659,203 T132I probably damaging Het
Gm4922 C T 10: 18,783,721 A418T possibly damaging Het
Kmo A G 1: 175,658,559 H416R probably benign Het
Lao1 A G 4: 118,965,405 N174S probably benign Het
Lrwd1 A T 5: 136,130,990 H406Q probably benign Het
Magoh A G 4: 107,887,262 I143V probably benign Het
Nav1 T C 1: 135,472,410 N474S probably benign Het
Ndufb10 T G 17: 24,722,783 E68D probably benign Het
Obscn T C 11: 59,036,087 D5534G possibly damaging Het
Olfr1076 C A 2: 86,508,684 T75K probably damaging Het
Olfr126 T A 17: 37,850,684 F31I probably damaging Het
Olfr1425 A T 19: 12,074,241 Y130* probably null Het
Olfr159 T C 4: 43,770,991 T7A probably benign Het
Olfr345 A T 2: 36,640,120 Y27F probably benign Het
Olfr685 A T 7: 105,180,833 F160Y probably benign Het
Padi1 A T 4: 140,832,329 V79E possibly damaging Het
Pdha2 A G 3: 141,211,499 Y83H probably damaging Het
Phpt1 A G 2: 25,574,715 I42T probably damaging Het
Pot1b A C 17: 55,674,085 S310A probably benign Het
Ptpn13 G A 5: 103,489,773 V176I probably damaging Het
Ptprf A G 4: 118,257,492 S189P probably damaging Het
Rere A T 4: 150,534,884 Q381L unknown Het
Rfwd3 C T 8: 111,288,242 R326Q probably damaging Het
Scn8a G A 15: 101,040,162 C1804Y probably benign Het
Sema3c G A 5: 17,678,314 D307N probably benign Het
Siah2 T C 3: 58,676,316 E183G probably benign Het
Smarca5 G A 8: 80,710,631 L699F probably damaging Het
Smo T A 6: 29,754,719 S263T probably benign Het
Sox2 A G 3: 34,650,699 E95G probably damaging Het
T T C 17: 8,439,939 S171P probably benign Het
Tmc7 G T 7: 118,542,024 A628D probably benign Het
Tmem45a2 A G 16: 57,049,426 S52P probably damaging Het
Tubb3 C T 8: 123,421,447 A373V probably damaging Het
Uhrf1bp1 T C 17: 27,895,380 probably null Het
Upp2 A G 2: 58,763,704 Y69C probably damaging Het
Utp4 A G 8: 106,900,844 probably null Het
Vmn1r59 T A 7: 5,454,411 M117L probably benign Het
Xkr8 T C 4: 132,732,411 S19G probably benign Het
Zbtb24 T C 10: 41,464,527 Y518H probably damaging Het
Zfp324 T C 7: 12,971,624 I580T probably benign Het
Zfp995 G A 17: 21,879,979 H425Y probably damaging Het
Other mutations in Mpz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00568:Mpz APN 1 171160002 missense possibly damaging 0.84
IGL03051:Mpz APN 1 171158811 missense probably damaging 1.00
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
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 unknown
Predicted Primers
Posted On2014-01-15