Incidental Mutation 'R6331:Dmp1'
ID 510908
Institutional Source Beutler Lab
Gene Symbol Dmp1
Ensembl Gene ENSMUSG00000029307
Gene Name dentin matrix protein 1
MMRRC Submission 044485-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6331 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 104350479-104361968 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104354991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 10 (L10P)
Ref Sequence ENSEMBL: ENSMUSP00000068053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066708]
AlphaFold O55188
Predicted Effect probably damaging
Transcript: ENSMUST00000066708
AA Change: L10P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068053
Gene: ENSMUSG00000029307
AA Change: L10P

Pfam:DMP1 1 503 9.8e-206 PFAM
Meta Mutation Damage Score 0.7372 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dentin matrix acidic phosphoprotein is an extracellular matrix protein and a member of the small integrin binding ligand N-linked glycoprotein family. This protein, which is critical for proper mineralization of bone and dentin, is present in diverse cells of bone and tooth tissues. The protein contains a large number of acidic domains, multiple phosphorylation sites, a functional arg-gly-asp cell attachment sequence, and a DNA binding domain. In undifferentiated osteoblasts it is primarily a nuclear protein that regulates the expression of osteoblast-specific genes. During osteoblast maturation the protein becomes phosphorylated and is exported to the extracellular matrix, where it orchestrates mineralized matrix formation. Mutations in the gene are known to cause autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia. The gene structure is conserved in mammals. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypophosphatemia, rickets, osteomalacia, renal phosphate-wasting, impaired osteocyte maturation, defective dentinogenesis, and severe alveolar bone and cementum defects leading to early periodontal breakdown. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,529,199 (GRCm39) D981G probably damaging Het
Abcc1 C A 16: 14,282,920 (GRCm39) A1132D probably damaging Het
Adamts12 A G 15: 11,241,519 (GRCm39) T364A probably damaging Het
Ahnak A T 19: 8,983,989 (GRCm39) M1758L probably benign Het
Ak9 T C 10: 41,258,825 (GRCm39) V774A probably damaging Het
Ash1l A G 3: 88,915,172 (GRCm39) E1934G probably benign Het
Atp2b2 C T 6: 113,774,092 (GRCm39) A341T probably benign Het
Bach2 G T 4: 32,238,816 (GRCm39) probably benign Het
Bltp3a T C 17: 28,112,175 (GRCm39) I1150T probably benign Het
Brd10 C T 19: 29,695,147 (GRCm39) V1449I probably benign Het
Ccdc102a T C 8: 95,638,144 (GRCm39) T241A probably benign Het
Chd5 G T 4: 152,466,865 (GRCm39) R1627S probably benign Het
Clint1 T C 11: 45,785,908 (GRCm39) S322P probably benign Het
Dapk1 T A 13: 60,877,256 (GRCm39) C498* probably null Het
Diaph3 T G 14: 87,103,976 (GRCm39) S803R probably damaging Het
Gcc2 T C 10: 58,107,287 (GRCm39) V741A probably benign Het
Gldn A G 9: 54,194,162 (GRCm39) M119V probably benign Het
Gucy1b1 A G 3: 81,941,718 (GRCm39) S574P possibly damaging Het
Hapln4 T A 8: 70,537,073 (GRCm39) probably benign Het
Hars1 A G 18: 36,904,385 (GRCm39) V209A probably benign Het
Htt T A 5: 35,053,231 (GRCm39) F2521L possibly damaging Het
Kif14 A G 1: 136,443,724 (GRCm39) D1299G probably null Het
Krt25 T A 11: 99,208,253 (GRCm39) E325V probably damaging Het
Lcmt1 T C 7: 122,977,405 (GRCm39) probably benign Het
Lrp1b A T 2: 40,693,221 (GRCm39) N3266K probably damaging Het
Mctp1 T A 13: 77,168,982 (GRCm39) probably null Het
Mtarc2 A G 1: 184,551,525 (GRCm39) S304P probably damaging Het
Myo5b G A 18: 74,750,064 (GRCm39) A176T probably damaging Het
Myom3 A G 4: 135,503,688 (GRCm39) N379S possibly damaging Het
Nbea A T 3: 55,908,037 (GRCm39) D1358E possibly damaging Het
Nod1 T C 6: 54,901,968 (GRCm39) E939G probably damaging Het
Obox1 A G 7: 15,289,294 (GRCm39) R70G probably benign Het
Or13c25 A G 4: 52,911,399 (GRCm39) Y132H probably damaging Het
Or13p3 A G 4: 118,567,144 (GRCm39) E180G probably benign Het
Or4a2 C T 2: 89,248,695 (GRCm39) G21S probably benign Het
Or5m12 T C 2: 85,734,560 (GRCm39) I279M probably benign Het
Otof T C 5: 30,529,279 (GRCm39) D1745G possibly damaging Het
Pklr A G 3: 89,044,662 (GRCm39) I47V probably damaging Het
Pms2 T A 5: 143,851,451 (GRCm39) S123T possibly damaging Het
Pnpla2 T C 7: 141,039,198 (GRCm39) S337P probably damaging Het
Ptgfrn A C 3: 100,952,936 (GRCm39) V766G possibly damaging Het
Ptpn11 T A 5: 121,282,716 (GRCm39) H419L probably damaging Het
Rims3 T A 4: 120,740,350 (GRCm39) V99E probably damaging Het
Rmc1 G A 18: 12,313,571 (GRCm39) R228H probably damaging Het
Samd9l A G 6: 3,376,361 (GRCm39) V300A probably damaging Het
Sdad1 T C 5: 92,451,789 (GRCm39) D144G probably damaging Het
Siglecg T C 7: 43,058,178 (GRCm39) Y22H possibly damaging Het
Slc39a1 A G 3: 90,159,588 (GRCm39) K305R possibly damaging Het
Slc5a4a A G 10: 76,014,034 (GRCm39) R414G probably damaging Het
Smg1 T C 7: 117,753,500 (GRCm39) probably benign Het
Tbc1d9b C T 11: 50,022,324 (GRCm39) A20V possibly damaging Het
Tgfb3 G T 12: 86,110,638 (GRCm39) D237E probably benign Het
Tle6 A G 10: 81,431,073 (GRCm39) S234P probably benign Het
Tnrc6b A G 15: 80,763,815 (GRCm39) N439S probably benign Het
Trim33 T C 3: 103,248,925 (GRCm39) S783P probably benign Het
Ttn A T 2: 76,632,698 (GRCm39) Y12373N probably damaging Het
Tube1 G A 10: 39,010,097 (GRCm39) V7I probably benign Het
Tufm T C 7: 126,088,410 (GRCm39) V265A probably benign Het
Usp32 T C 11: 84,877,402 (GRCm39) H1550R possibly damaging Het
Usp33 A T 3: 152,081,887 (GRCm39) M546L probably damaging Het
Uspl1 C A 5: 149,151,097 (GRCm39) Q752K probably benign Het
Vmn1r20 A G 6: 57,408,655 (GRCm39) probably null Het
Vmn1r201 T C 13: 22,659,521 (GRCm39) F245S probably damaging Het
Vmn2r3 A G 3: 64,186,182 (GRCm39) S168P probably damaging Het
Wdr24 T G 17: 26,044,650 (GRCm39) D168E possibly damaging Het
Zfp646 C T 7: 127,482,853 (GRCm39) P1677S probably damaging Het
Other mutations in Dmp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Dmp1 APN 5 104,358,021 (GRCm39) splice site probably benign
IGL01063:Dmp1 APN 5 104,354,965 (GRCm39) start codon destroyed probably null 0.73
IGL01599:Dmp1 APN 5 104,360,328 (GRCm39) nonsense probably null
IGL01631:Dmp1 APN 5 104,360,734 (GRCm39) missense probably benign 0.04
IGL01646:Dmp1 APN 5 104,359,731 (GRCm39) missense probably damaging 1.00
IGL02611:Dmp1 APN 5 104,360,380 (GRCm39) missense probably damaging 1.00
IGL02642:Dmp1 APN 5 104,359,536 (GRCm39) missense probably damaging 0.97
choppers UTSW 5 104,354,991 (GRCm39) missense probably damaging 1.00
R0197:Dmp1 UTSW 5 104,355,496 (GRCm39) missense possibly damaging 0.82
R0494:Dmp1 UTSW 5 104,360,074 (GRCm39) missense probably damaging 1.00
R0529:Dmp1 UTSW 5 104,360,092 (GRCm39) missense probably benign 0.03
R0850:Dmp1 UTSW 5 104,360,653 (GRCm39) missense possibly damaging 0.86
R0883:Dmp1 UTSW 5 104,355,496 (GRCm39) missense possibly damaging 0.82
R1858:Dmp1 UTSW 5 104,355,496 (GRCm39) missense possibly damaging 0.92
R1869:Dmp1 UTSW 5 104,359,942 (GRCm39) missense probably damaging 1.00
R1995:Dmp1 UTSW 5 104,357,779 (GRCm39) missense possibly damaging 0.60
R2004:Dmp1 UTSW 5 104,359,790 (GRCm39) missense possibly damaging 0.73
R2009:Dmp1 UTSW 5 104,360,706 (GRCm39) missense probably damaging 0.97
R2870:Dmp1 UTSW 5 104,359,974 (GRCm39) missense probably benign 0.05
R2870:Dmp1 UTSW 5 104,359,974 (GRCm39) missense probably benign 0.05
R4716:Dmp1 UTSW 5 104,360,427 (GRCm39) missense probably damaging 0.99
R5687:Dmp1 UTSW 5 104,354,952 (GRCm39) start gained probably benign
R6389:Dmp1 UTSW 5 104,360,788 (GRCm39) missense probably damaging 1.00
R7006:Dmp1 UTSW 5 104,360,188 (GRCm39) missense probably benign 0.02
R7103:Dmp1 UTSW 5 104,359,729 (GRCm39) missense probably damaging 1.00
R7699:Dmp1 UTSW 5 104,359,590 (GRCm39) missense probably damaging 1.00
R8181:Dmp1 UTSW 5 104,359,380 (GRCm39) splice site probably null
R8350:Dmp1 UTSW 5 104,360,765 (GRCm39) missense probably damaging 0.99
R8379:Dmp1 UTSW 5 104,359,571 (GRCm39) nonsense probably null
R8450:Dmp1 UTSW 5 104,360,765 (GRCm39) missense probably damaging 0.99
R8531:Dmp1 UTSW 5 104,360,269 (GRCm39) missense probably damaging 1.00
R9316:Dmp1 UTSW 5 104,357,767 (GRCm39) missense probably benign 0.45
Z1177:Dmp1 UTSW 5 104,359,518 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-04-02