Incidental Mutation 'R2920:Mepe'
ID 255461
Institutional Source Beutler Lab
Gene Symbol Mepe
Ensembl Gene ENSMUSG00000053863
Gene Name matrix extracellular phosphoglycoprotein with ASARM motif (bone)
Synonyms OF45
MMRRC Submission 040505-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R2920 (G1)
Quality Score 211
Status Validated
Chromosome 5
Chromosomal Location 104473195-104486477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104486113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 418 (R418C)
Ref Sequence ENSEMBL: ENSMUSP00000065200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066207]
AlphaFold Q8K4L6
Predicted Effect probably damaging
Transcript: ENSMUST00000066207
AA Change: R418C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000065200
Gene: ENSMUSG00000053863
AA Change: R418C

signal peptide 1 24 N/A INTRINSIC
Pfam:Osteoregulin 29 192 4.2e-76 PFAM
low complexity region 257 272 N/A INTRINSIC
low complexity region 426 438 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 96% (48/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted calcium-binding phosphoprotein that belongs to the small integrin-binding ligand, N-linked glycoprotein (SIBLING) family of proteins. Members of this family are components of the extracellular matrix of bone and dentin and regulate bone mineralization. Deficiency of a similar protein in mouse results in increased bone mass. Mice lacking this gene are resistant to aging-related trabecular bone loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene have increased amounts of trabecular bone in their skeleton and undergo less age related bone loss. Otherwise, they display a normal phenotype. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A G 10: 10,265,987 (GRCm39) Y1025H probably damaging Het
Adgrv1 C T 13: 81,596,984 (GRCm39) A4122T probably benign Het
Aloxe3 C T 11: 69,033,749 (GRCm39) T621I probably damaging Het
Atp2b3 A C X: 72,577,526 (GRCm39) T318P probably benign Het
Atrx A T X: 104,874,474 (GRCm39) V1962D probably benign Het
Chl1 C A 6: 103,672,304 (GRCm39) T531K probably damaging Het
Clca3b T A 3: 144,543,614 (GRCm39) D405V probably benign Het
Clca3b C T 3: 144,552,692 (GRCm39) D115N probably benign Het
Comtd1 A G 14: 21,897,686 (GRCm39) L149P possibly damaging Het
Cops7a A G 6: 124,939,325 (GRCm39) V108A probably benign Het
Crebbp A G 16: 3,936,946 (GRCm39) V343A probably damaging Het
Edrf1 T A 7: 133,269,301 (GRCm39) D1109E probably benign Het
Elmo3 A G 8: 106,034,691 (GRCm39) E359G possibly damaging Het
Ep400 C A 5: 110,903,780 (GRCm39) G273V probably damaging Het
Fgfr3 A G 5: 33,891,284 (GRCm39) N516S probably damaging Het
Glb1l T A 1: 75,185,834 (GRCm39) E31D probably benign Het
Hdac1-ps A G 17: 78,800,275 (GRCm39) D422G probably damaging Het
Il12rb2 C T 6: 67,337,552 (GRCm39) V110I probably damaging Het
Ints3 T C 3: 90,300,469 (GRCm39) E884G probably benign Het
Lin7b A G 7: 45,017,821 (GRCm39) V170A possibly damaging Het
Lrch2 A T X: 146,256,026 (GRCm39) V750E probably damaging Het
Mettl25 A T 10: 105,601,038 (GRCm39) probably null Het
Mphosph9 G A 5: 124,399,069 (GRCm39) T982I probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myo10 G T 15: 25,801,226 (GRCm39) V1472L probably damaging Het
Myo9b A G 8: 71,778,501 (GRCm39) K445R probably damaging Het
Ntng2 T C 2: 29,094,223 (GRCm39) M383V probably benign Het
Or13n4 C T 7: 106,423,571 (GRCm39) R54Q probably benign Het
Or2z2 T C 11: 58,346,403 (GRCm39) Y124C probably damaging Het
Or7a37 A C 10: 78,805,846 (GRCm39) D121A probably damaging Het
Pak6 A T 2: 118,524,488 (GRCm39) probably benign Het
Pcdh8 G T 14: 80,006,154 (GRCm39) P803Q possibly damaging Het
Pfkfb3 C T 2: 11,489,138 (GRCm39) V286I probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rint1 A G 5: 24,010,400 (GRCm39) E203G probably benign Het
Sdf2 G C 11: 78,145,680 (GRCm39) V126L probably damaging Het
Slc13a5 T C 11: 72,138,617 (GRCm39) E442G possibly damaging Het
Slc14a2 G T 18: 78,201,512 (GRCm39) S669* probably null Het
Slc38a7 A G 8: 96,572,571 (GRCm39) I157T possibly damaging Het
Slc4a5 T C 6: 83,241,369 (GRCm39) L215P probably damaging Het
Tbc1d9 T C 8: 83,937,098 (GRCm39) V60A probably benign Het
Tcerg1l T C 7: 137,850,108 (GRCm39) R422G probably damaging Het
Tmem107 T C 11: 68,962,247 (GRCm39) L68P probably damaging Het
Ugt2b5 A G 5: 87,273,266 (GRCm39) F467L possibly damaging Het
Vmn1r19 A T 6: 57,381,909 (GRCm39) N154I probably benign Het
Vmn2r69 T A 7: 85,060,973 (GRCm39) I204L probably benign Het
Zbtb1 T A 12: 76,432,619 (GRCm39) S202T possibly damaging Het
Other mutations in Mepe
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Mepe APN 5 104,485,843 (GRCm39) missense probably damaging 1.00
IGL01896:Mepe APN 5 104,486,135 (GRCm39) missense possibly damaging 0.85
IGL01997:Mepe APN 5 104,485,466 (GRCm39) missense probably damaging 1.00
IGL02311:Mepe APN 5 104,485,571 (GRCm39) missense probably damaging 0.98
IGL02586:Mepe APN 5 104,485,316 (GRCm39) missense probably benign 0.39
F6893:Mepe UTSW 5 104,485,242 (GRCm39) missense possibly damaging 0.87
R1187:Mepe UTSW 5 104,486,114 (GRCm39) missense probably damaging 0.98
R1218:Mepe UTSW 5 104,474,939 (GRCm39) missense probably benign
R1633:Mepe UTSW 5 104,485,540 (GRCm39) missense probably benign 0.25
R2024:Mepe UTSW 5 104,474,957 (GRCm39) missense possibly damaging 0.72
R2026:Mepe UTSW 5 104,474,957 (GRCm39) missense possibly damaging 0.72
R2027:Mepe UTSW 5 104,474,957 (GRCm39) missense possibly damaging 0.72
R2393:Mepe UTSW 5 104,485,327 (GRCm39) missense possibly damaging 0.95
R3040:Mepe UTSW 5 104,485,988 (GRCm39) missense probably damaging 0.99
R3716:Mepe UTSW 5 104,485,294 (GRCm39) missense probably benign 0.25
R3973:Mepe UTSW 5 104,484,944 (GRCm39) missense probably benign
R3976:Mepe UTSW 5 104,484,944 (GRCm39) missense probably benign
R4894:Mepe UTSW 5 104,473,268 (GRCm39) missense probably damaging 0.98
R5556:Mepe UTSW 5 104,486,078 (GRCm39) missense probably damaging 1.00
R6256:Mepe UTSW 5 104,484,940 (GRCm39) missense probably benign 0.01
R6788:Mepe UTSW 5 104,486,074 (GRCm39) nonsense probably null
R7361:Mepe UTSW 5 104,485,009 (GRCm39) missense probably benign 0.41
R8431:Mepe UTSW 5 104,486,047 (GRCm39) missense possibly damaging 0.91
R8679:Mepe UTSW 5 104,485,754 (GRCm39) missense possibly damaging 0.91
R8745:Mepe UTSW 5 104,485,525 (GRCm39) missense possibly damaging 0.93
R8817:Mepe UTSW 5 104,485,151 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-12-29