Incidental Mutation 'R2870:Dmp1'
ID 266502
Institutional Source Beutler Lab
Gene Symbol Dmp1
Ensembl Gene ENSMUSG00000029307
Gene Name dentin matrix protein 1
MMRRC Submission 040458-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2870 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 104202613-104214102 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104212108 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 217 (S217G)
Ref Sequence ENSEMBL: ENSMUSP00000068053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066708]
AlphaFold O55188
Predicted Effect probably benign
Transcript: ENSMUST00000066708
AA Change: S217G

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000068053
Gene: ENSMUSG00000029307
AA Change: S217G

Pfam:DMP1 1 503 9.8e-206 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444G20Rik A T 10: 22,067,379 (GRCm38) I234N probably benign Het
Actrt3 A G 3: 30,599,698 (GRCm38) V51A probably damaging Het
Adgb C T 10: 10,431,281 (GRCm38) probably null Het
AI481877 A C 4: 59,093,850 (GRCm38) L226R probably damaging Het
Als2 A G 1: 59,211,137 (GRCm38) S483P probably damaging Het
Ankrd10 C T 8: 11,615,682 (GRCm38) R306H probably damaging Het
Arhgef10 A G 8: 14,975,666 (GRCm38) I459V probably benign Het
Arhgef10 T C 8: 14,975,093 (GRCm38) probably null Het
Armc2 C T 10: 41,966,700 (GRCm38) probably null Het
Atp12a A G 14: 56,386,950 (GRCm38) R952G possibly damaging Het
Atp6v1g1 A G 4: 63,550,021 (GRCm38) Y87C probably benign Het
C030034I22Rik T A 17: 69,418,111 (GRCm38) noncoding transcript Het
Cacna2d1 G A 5: 16,312,568 (GRCm38) C404Y probably damaging Het
Ccdc163 T C 4: 116,741,861 (GRCm38) silent Het
Ccdc59 A T 10: 105,841,527 (GRCm38) K9M possibly damaging Het
Cd6 A G 19: 10,794,626 (GRCm38) I307T possibly damaging Het
Clasrp C A 7: 19,585,240 (GRCm38) probably benign Het
Csmd2 T C 4: 128,557,718 (GRCm38) F113S unknown Het
Csmd3 C T 15: 47,857,924 (GRCm38) G1437D probably damaging Het
Cyp4a14 C A 4: 115,487,301 (GRCm38) G456W probably damaging Het
Cyp4a30b A G 4: 115,458,362 (GRCm38) H260R possibly damaging Het
Dcp1b C T 6: 119,214,774 (GRCm38) S217L probably benign Het
Dhx57 A T 17: 80,251,376 (GRCm38) D1051E probably benign Het
Eif4enif1 C T 11: 3,242,586 (GRCm38) P805S probably damaging Het
Eral1 A G 11: 78,076,278 (GRCm38) I164T possibly damaging Het
Esr1 G A 10: 4,997,890 (GRCm38) R481H probably damaging Het
Fam19a2 A T 10: 123,704,365 (GRCm38) H42L possibly damaging Het
Fan1 A G 7: 64,363,190 (GRCm38) I668T probably benign Het
Gbp11 C T 5: 105,331,000 (GRCm38) D191N probably benign Het
Gm21759 T A 5: 8,180,863 (GRCm38) probably benign Het
Gm5454 C A 13: 103,357,523 (GRCm38) noncoding transcript Het
Gm9874 A T 17: 30,485,789 (GRCm38) probably benign Het
Gria2 G A 3: 80,702,492 (GRCm38) T670I probably damaging Het
Gria4 T A 9: 4,503,614 (GRCm38) N334I probably damaging Het
Grm5 T C 7: 87,602,722 (GRCm38) V60A possibly damaging Het
Ift172 C T 5: 31,257,861 (GRCm38) V1335I probably benign Het
Ino80d C T 1: 63,061,039 (GRCm38) probably null Het
Kif1c A G 11: 70,724,081 (GRCm38) E567G probably damaging Het
Krt31 T G 11: 100,047,873 (GRCm38) N298T possibly damaging Het
Mapk7 C A 11: 61,490,212 (GRCm38) probably benign Het
March8 C T 6: 116,401,145 (GRCm38) probably benign Het
Matr3 T A 18: 35,572,296 (GRCm38) S91R probably benign Het
Mdm1 A G 10: 118,150,942 (GRCm38) T267A probably benign Het
Mlxip A G 5: 123,452,667 (GRCm38) M878V probably benign Het
Mtm1 T C X: 71,296,362 (GRCm38) probably benign Homo
Mtor T A 4: 148,540,030 (GRCm38) M2089K probably benign Het
Mylk2 A G 2: 152,919,348 (GRCm38) K457R probably damaging Het
Nell1 A T 7: 50,249,657 (GRCm38) probably benign Het
Nomo1 C A 7: 46,046,937 (GRCm38) T293N probably damaging Het
Odf3l2 G A 10: 79,645,653 (GRCm38) T14I probably benign Het
Olfr1080 T C 2: 86,553,584 (GRCm38) D180G possibly damaging Het
Olfr1510 T G 14: 52,410,861 (GRCm38) T4P probably benign Het
Olfr801 A T 10: 129,669,759 (GRCm38) C253* probably null Het
Ostc T C 3: 130,703,508 (GRCm38) N80S probably damaging Het
Otud4 T A 8: 79,661,073 (GRCm38) N300K possibly damaging Het
Otx1 A G 11: 21,998,681 (GRCm38) probably benign Het
Palmd T C 3: 116,923,751 (GRCm38) R366G possibly damaging Het
Pcdhb20 A T 18: 37,505,780 (GRCm38) Q453L possibly damaging Het
Pcdhga9 T A 18: 37,737,471 (GRCm38) Y118N possibly damaging Het
Pes1 C A 11: 3,976,834 (GRCm38) T372K probably benign Het
Plcl1 A T 1: 55,697,150 (GRCm38) D550V probably benign Het
Plekhg5 T A 4: 152,107,503 (GRCm38) C433S probably benign Het
Plin2 A G 4: 86,668,678 (GRCm38) M1T probably null Het
Pold1 C T 7: 44,543,347 (GRCm38) silent Het
Ppp1r7 T A 1: 93,357,863 (GRCm38) probably null Het
Psmb8 T C 17: 34,200,170 (GRCm38) I146T probably damaging Het
Pzp A T 6: 128,485,556 (GRCm38) probably null Het
Rel T C 11: 23,761,129 (GRCm38) I13V probably benign Het
Reln C T 5: 22,049,791 (GRCm38) V527I possibly damaging Het
Retnla A G 16: 48,843,612 (GRCm38) R90G probably benign Het
Slc39a8 T A 3: 135,886,793 (GRCm38) probably null Het
Slc5a8 A G 10: 88,904,963 (GRCm38) I247V probably benign Het
Son A G 16: 91,664,317 (GRCm38) probably null Het
Spcs2 T C 7: 99,839,761 (GRCm38) D240G probably damaging Het
St5 A T 7: 109,557,430 (GRCm38) Y38N probably benign Het
Stx3 A T 19: 11,789,574 (GRCm38) V91D probably damaging Het
Taf6l A G 19: 8,778,628 (GRCm38) probably benign Het
Tbc1d8 A G 1: 39,405,317 (GRCm38) F187S probably damaging Het
Thbs1 C G 2: 118,119,378 (GRCm38) N611K probably damaging Het
Tipin A C 9: 64,304,327 (GRCm38) S232R probably benign Het
Tmem132b A G 5: 125,638,268 (GRCm38) D347G probably benign Het
Tmem161a C T 8: 70,178,915 (GRCm38) probably benign Het
Vmn2r68 A C 7: 85,233,626 (GRCm38) M306R probably benign Het
Vwa7 G A 17: 35,021,242 (GRCm38) M395I probably damaging Het
Ybx3 G A 6: 131,370,413 (GRCm38) A253V probably damaging Het
Zfp53 A T 17: 21,508,078 (GRCm38) E124D probably benign Het
Zzz3 T A 3: 152,446,844 (GRCm38) silent Het
Other mutations in Dmp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Dmp1 APN 5 104,210,155 (GRCm38) splice site probably benign
IGL01063:Dmp1 APN 5 104,207,099 (GRCm38) start codon destroyed probably null 0.73
IGL01599:Dmp1 APN 5 104,212,462 (GRCm38) nonsense probably null
IGL01631:Dmp1 APN 5 104,212,868 (GRCm38) missense probably benign 0.04
IGL01646:Dmp1 APN 5 104,211,865 (GRCm38) missense probably damaging 1.00
IGL02611:Dmp1 APN 5 104,212,514 (GRCm38) missense probably damaging 1.00
IGL02642:Dmp1 APN 5 104,211,670 (GRCm38) missense probably damaging 0.97
choppers UTSW 5 104,207,125 (GRCm38) missense probably damaging 1.00
R0197:Dmp1 UTSW 5 104,207,630 (GRCm38) missense possibly damaging 0.82
R0494:Dmp1 UTSW 5 104,212,208 (GRCm38) missense probably damaging 1.00
R0529:Dmp1 UTSW 5 104,212,226 (GRCm38) missense probably benign 0.03
R0850:Dmp1 UTSW 5 104,212,787 (GRCm38) missense possibly damaging 0.86
R0883:Dmp1 UTSW 5 104,207,630 (GRCm38) missense possibly damaging 0.82
R1858:Dmp1 UTSW 5 104,207,630 (GRCm38) missense possibly damaging 0.92
R1869:Dmp1 UTSW 5 104,212,076 (GRCm38) missense probably damaging 1.00
R1995:Dmp1 UTSW 5 104,209,913 (GRCm38) missense possibly damaging 0.60
R2004:Dmp1 UTSW 5 104,211,924 (GRCm38) missense possibly damaging 0.73
R2009:Dmp1 UTSW 5 104,212,840 (GRCm38) missense probably damaging 0.97
R2870:Dmp1 UTSW 5 104,212,108 (GRCm38) missense probably benign 0.05
R4716:Dmp1 UTSW 5 104,212,561 (GRCm38) missense probably damaging 0.99
R5687:Dmp1 UTSW 5 104,207,086 (GRCm38) start gained probably benign
R6331:Dmp1 UTSW 5 104,207,125 (GRCm38) missense probably damaging 1.00
R6389:Dmp1 UTSW 5 104,212,922 (GRCm38) missense probably damaging 1.00
R7006:Dmp1 UTSW 5 104,212,322 (GRCm38) missense probably benign 0.02
R7103:Dmp1 UTSW 5 104,211,863 (GRCm38) missense probably damaging 1.00
R7699:Dmp1 UTSW 5 104,211,724 (GRCm38) missense probably damaging 1.00
R8181:Dmp1 UTSW 5 104,211,514 (GRCm38) splice site probably null
R8350:Dmp1 UTSW 5 104,212,899 (GRCm38) missense probably damaging 0.99
R8379:Dmp1 UTSW 5 104,211,705 (GRCm38) nonsense probably null
R8450:Dmp1 UTSW 5 104,212,899 (GRCm38) missense probably damaging 0.99
R8531:Dmp1 UTSW 5 104,212,403 (GRCm38) missense probably damaging 1.00
R9316:Dmp1 UTSW 5 104,209,901 (GRCm38) missense probably benign 0.45
Z1177:Dmp1 UTSW 5 104,211,652 (GRCm38) missense probably benign 0.04
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-02-18