Incidental Mutation 'R2009:Dmp1'
ID 219341
Institutional Source Beutler Lab
Gene Symbol Dmp1
Ensembl Gene ENSMUSG00000029307
Gene Name dentin matrix protein 1
Synonyms
MMRRC Submission 040018-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2009 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 104350479-104361968 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104360706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 461 (S461G)
Ref Sequence ENSEMBL: ENSMUSP00000068053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066708]
AlphaFold O55188
Predicted Effect probably damaging
Transcript: ENSMUST00000066708
AA Change: S461G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000068053
Gene: ENSMUSG00000029307
AA Change: S461G

DomainStartEndE-ValueType
Pfam:DMP1 1 503 9.8e-206 PFAM
Meta Mutation Damage Score 0.3442 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (47/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 T A 9: 30,833,433 (GRCm39) D34V probably benign Het
Adgrf1 A T 17: 43,632,112 (GRCm39) R884* probably null Het
Adgrg7 T C 16: 56,582,236 (GRCm39) T301A probably benign Het
Arhgef17 A G 7: 100,530,988 (GRCm39) I1366T probably damaging Het
C1s2 A T 6: 124,612,048 (GRCm39) L112H probably damaging Het
C2cd6 A T 1: 59,042,391 (GRCm39) noncoding transcript Het
Cfap74 G A 4: 155,504,724 (GRCm39) R103H possibly damaging Het
Col7a1 A T 9: 108,797,943 (GRCm39) probably null Het
Eif4g2 A T 7: 110,673,405 (GRCm39) D753E probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Etv4 T C 11: 101,665,063 (GRCm39) D130G probably damaging Het
Gabbr2 A T 4: 46,734,119 (GRCm39) I533N probably damaging Het
Gne T C 4: 44,055,273 (GRCm39) E234G probably benign Het
Itga6 C A 2: 71,647,025 (GRCm39) N78K probably benign Het
Lap3 C T 5: 45,650,899 (GRCm39) T33M probably benign Het
Limd1 A G 9: 123,308,564 (GRCm39) S88G probably benign Het
Lrp1 G T 10: 127,380,385 (GRCm39) T3922K probably damaging Het
Map4k3 A G 17: 80,971,517 (GRCm39) probably benign Het
Mib1 T C 18: 10,812,118 (GRCm39) L263S probably damaging Het
Ncor1 T C 11: 62,216,427 (GRCm39) S1474G probably benign Het
Nkapl A C 13: 21,651,607 (GRCm39) S335R probably damaging Het
Nrg3 A G 14: 38,092,771 (GRCm39) S605P probably damaging Het
Or10x4 G T 1: 174,218,995 (GRCm39) R120L possibly damaging Het
Or52b3 A G 7: 102,204,151 (GRCm39) Y220C probably damaging Het
Patj G A 4: 98,344,406 (GRCm39) D577N probably damaging Het
Pfpl A C 19: 12,407,319 (GRCm39) K523N possibly damaging Het
Pik3c2a A C 7: 115,963,738 (GRCm39) L924R probably damaging Het
Pkd2l1 C A 19: 44,144,403 (GRCm39) R278L probably benign Het
Prss2 A T 6: 41,500,910 (GRCm39) I108F probably damaging Het
Rnase2b A G 14: 51,400,347 (GRCm39) T143A possibly damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Sphk2 A T 7: 45,360,437 (GRCm39) H522Q probably damaging Het
Szt2 A G 4: 118,235,261 (GRCm39) probably null Het
Tmem88 C A 11: 69,288,602 (GRCm39) A106S probably damaging Het
Trappc14 C A 5: 138,259,191 (GRCm39) C434F probably damaging Het
Trim39 A G 17: 36,574,646 (GRCm39) L252S possibly damaging Het
Trim60 T A 8: 65,453,975 (GRCm39) E91D probably damaging Het
Trpm5 A G 7: 142,641,475 (GRCm39) I145T possibly damaging Het
Vmn2r107 A T 17: 20,595,729 (GRCm39) M761L probably benign Het
Wdr4 G A 17: 31,719,584 (GRCm39) probably benign Het
Wfs1 A T 5: 37,125,653 (GRCm39) S413T probably damaging Het
Wnt2 A T 6: 18,030,208 (GRCm39) W27R probably damaging Het
Zc3h3 A T 15: 75,651,158 (GRCm39) H687Q probably damaging Het
Zfp750 G A 11: 121,403,951 (GRCm39) P308L possibly 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
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
R6331:Dmp1 UTSW 5 104,354,991 (GRCm39) missense probably damaging 1.00
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
(F):5'- TGAACACATTCTCCAGCTCAG -3'
(R):5'- CGTCCTGTGAGAGCCATTTC -3'

Sequencing Primer
(F):5'- TCTCCGAGGAGAGTCAGGAGTC -3'
(R):5'- CCTGTGAGAGCCATTTCTTAGACAAG -3'
Posted On 2014-08-25