Incidental Mutation 'R6389:Dmp1'
ID 515687
Institutional Source Beutler Lab
Gene Symbol Dmp1
Ensembl Gene ENSMUSG00000029307
Gene Name dentin matrix protein 1
Synonyms
MMRRC Submission 044538-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6389 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 104350479-104361968 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104360788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 488 (N488I)
Ref Sequence ENSEMBL: ENSMUSP00000068053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066708]
AlphaFold O55188
Predicted Effect probably damaging
Transcript: ENSMUST00000066708
AA Change: N488I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068053
Gene: ENSMUSG00000029307
AA Change: N488I

DomainStartEndE-ValueType
Pfam:DMP1 1 503 9.8e-206 PFAM
Meta Mutation Damage Score 0.6816 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A C 7: 43,147,254 (GRCm39) L326R possibly damaging Het
Abcb11 A T 2: 69,154,238 (GRCm39) N109K probably damaging Het
Actn1 T A 12: 80,221,296 (GRCm39) M586L probably benign Het
Ago4 T A 4: 126,401,037 (GRCm39) I603F probably damaging Het
Bicc1 A T 10: 70,794,752 (GRCm39) V135D probably damaging Het
Bms1 T C 6: 118,380,196 (GRCm39) N704D possibly damaging Het
Cadm4 A C 7: 24,198,959 (GRCm39) Q78P probably benign Het
Cfap74 T C 4: 155,507,793 (GRCm39) I248T possibly damaging Het
Clu G C 14: 66,208,771 (GRCm39) probably benign Het
Cnnm3 T C 1: 36,559,603 (GRCm39) V514A probably damaging Het
Cntd1 A T 11: 101,176,577 (GRCm39) I225F probably damaging Het
Col20a1 T C 2: 180,634,376 (GRCm39) probably null Het
Ctnnal1 A G 4: 56,813,849 (GRCm39) V640A probably benign Het
Cul4a A G 8: 13,190,278 (GRCm39) T572A probably benign Het
D16Ertd472e A G 16: 78,342,071 (GRCm39) S270P probably damaging Het
Dnah14 G A 1: 181,478,767 (GRCm39) probably null Het
Dst T C 1: 34,232,265 (GRCm39) L3464P probably damaging Het
Fnbp4 C T 2: 90,575,879 (GRCm39) P27S unknown Het
Fpr-rs3 A T 17: 20,844,230 (GRCm39) F304I probably damaging Het
Gm13941 T C 2: 110,928,734 (GRCm39) Q108R unknown Het
Hcn3 C T 3: 89,058,240 (GRCm39) A339T possibly damaging Het
Inpp5f A G 7: 128,279,780 (GRCm39) D460G probably damaging Het
Ism2 T C 12: 87,329,145 (GRCm39) E253G possibly damaging Het
Klrg1 T C 6: 122,248,431 (GRCm39) N156S probably damaging Het
Ksr2 A G 5: 117,552,907 (GRCm39) N5S probably benign Het
Lrrc7 T G 3: 157,891,063 (GRCm39) E368A probably damaging Het
Ly9 G C 1: 171,424,105 (GRCm39) S482C probably damaging Het
Map3k1 T C 13: 111,905,975 (GRCm39) D289G probably damaging Het
Mcub T C 3: 129,712,357 (GRCm39) T173A probably benign Het
Mup16 T C 4: 61,437,177 (GRCm39) E48G probably damaging Het
Naf1 C T 8: 67,313,680 (GRCm39) S24L possibly damaging Het
Ncoa6 A G 2: 155,237,736 (GRCm39) S2024P probably damaging Het
Nop56 C A 2: 130,119,807 (GRCm39) Q83K probably damaging Het
Nt5e T C 9: 88,245,524 (GRCm39) Y265H probably damaging Het
Odad1 G T 7: 45,597,940 (GRCm39) V617F probably benign Het
Or4a27 A G 2: 88,559,016 (GRCm39) V309A probably benign Het
Or52p2 A T 7: 102,237,679 (GRCm39) N90K probably benign Het
Or5w8 C T 2: 87,688,367 (GRCm39) P283S probably damaging Het
Oxct2a T A 4: 123,217,220 (GRCm39) K54* probably null Het
Oxct2b G T 4: 123,010,367 (GRCm39) D96Y probably benign Het
Pisd A G 5: 32,922,191 (GRCm39) Y250H probably damaging Het
Plekhm1 G T 11: 103,257,720 (GRCm39) N1071K probably benign Het
Prr11 G A 11: 86,989,564 (GRCm39) T269I possibly damaging Het
Ptpn4 T A 1: 119,649,684 (GRCm39) H304L probably damaging Het
Rrp1b A G 17: 32,275,601 (GRCm39) K383E possibly damaging Het
Sel1l2 C A 2: 140,087,274 (GRCm39) A466S probably damaging Het
Slc9a4 A G 1: 40,619,844 (GRCm39) I57V probably benign Het
Spag9 A G 11: 93,977,137 (GRCm39) E81G probably damaging Het
Tbr1 A G 2: 61,636,631 (GRCm39) probably benign Het
Tnrc6c A G 11: 117,613,567 (GRCm39) D735G probably damaging Het
Tspan17 A T 13: 54,943,429 (GRCm39) probably null Het
Tyw5 T C 1: 57,430,658 (GRCm39) K175R probably damaging Het
Ube2o A C 11: 116,439,684 (GRCm39) I162R probably null Het
Ubr1 G T 2: 120,711,520 (GRCm39) T1458K probably benign Het
Vmn2r16 A T 5: 109,478,344 (GRCm39) Q33L probably benign Het
Zfp1007 G A 5: 109,823,885 (GRCm39) P522S possibly damaging Het
Zfp799 A G 17: 33,039,552 (GRCm39) L238P 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
R6331:Dmp1 UTSW 5 104,354,991 (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'- GCCTGAACACATTCTCCAGC -3'
(R):5'- TCCAACAGTTCCTCACAGGG -3'

Sequencing Primer
(F):5'- TCTCCGAGGAGAGTCAGGAGTC -3'
(R):5'- CAGTTCCTCACAGGGGGAAAAC -3'
Posted On 2018-05-04