Incidental Mutation 'R1995:Dmp1'
ID 225673
Institutional Source Beutler Lab
Gene Symbol Dmp1
Ensembl Gene ENSMUSG00000029307
Gene Name dentin matrix protein 1
MMRRC Submission 040005-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1995 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 104350479-104361968 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 104357779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 40 (S40A)
Ref Sequence ENSEMBL: ENSMUSP00000068053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066708]
AlphaFold O55188
Predicted Effect possibly damaging
Transcript: ENSMUST00000066708
AA Change: S40A

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000068053
Gene: ENSMUSG00000029307
AA Change: S40A

Pfam:DMP1 1 503 9.8e-206 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T G 13: 59,678,872 (GRCm39) K145N probably damaging Het
AY358078 T A 14: 52,063,519 (GRCm39) D388E probably damaging Het
Btbd9 A G 17: 30,493,904 (GRCm39) Y496H possibly damaging Het
Catsperb T A 12: 101,569,026 (GRCm39) N899K possibly damaging Het
Cenpl T C 1: 160,905,994 (GRCm39) S123P probably damaging Het
Cep120 G A 18: 53,873,208 (GRCm39) T41I probably damaging Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Cnbd1 G A 4: 19,055,112 (GRCm39) P105S possibly damaging Het
Col6a1 T C 10: 76,557,790 (GRCm39) N149D probably damaging Het
Ctnna3 T A 10: 63,656,143 (GRCm39) V241D probably damaging Het
Dcbld2 A C 16: 58,276,695 (GRCm39) E495D probably benign Het
Dpysl4 A G 7: 138,676,686 (GRCm39) I379V probably benign Het
Eral1 C T 11: 77,965,315 (GRCm39) G367S probably benign Het
Fah C T 7: 84,251,389 (GRCm39) R31Q probably damaging Het
Fbn1 T A 2: 125,192,293 (GRCm39) probably null Het
Fbxo40 T C 16: 36,790,231 (GRCm39) D293G probably damaging Het
Gemin6 A C 17: 80,535,414 (GRCm39) T125P probably damaging Het
Gpbar1 G A 1: 74,318,603 (GRCm39) G282D possibly damaging Het
Gria2 G A 3: 80,709,664 (GRCm39) L10F probably benign Het
Gucy1b1 A G 3: 81,942,160 (GRCm39) I533T probably damaging Het
H2-M9 A T 17: 36,952,678 (GRCm39) Y123N probably damaging Het
Hipk2 C A 6: 38,692,909 (GRCm39) D868Y probably damaging Het
Itprid1 T C 6: 55,945,694 (GRCm39) I805T probably benign Het
Jarid2 T C 13: 45,027,917 (GRCm39) L123P probably damaging Het
Kcnb2 C A 1: 15,779,990 (GRCm39) N287K possibly damaging Het
Kdm8 G A 7: 125,051,511 (GRCm39) G35S probably benign Het
Kirrel1 G T 3: 87,003,093 (GRCm39) A100D possibly damaging Het
Ltbp2 T G 12: 84,855,220 (GRCm39) probably null Het
Mfsd12 C A 10: 81,193,515 (GRCm39) H28Q probably damaging Het
Neb C T 2: 52,188,744 (GRCm39) V837M probably damaging Het
Nkain2 A G 10: 32,278,347 (GRCm39) I26T possibly damaging Het
Nuggc A G 14: 65,848,623 (GRCm39) R175G probably benign Het
Or10ag57 T G 2: 87,218,175 (GRCm39) I42R probably damaging Het
Or5ac23 A G 16: 59,149,654 (GRCm39) S73P probably damaging Het
Or5d35 T A 2: 87,856,016 (GRCm39) S317T probably benign Het
Or8g52 T C 9: 39,630,709 (GRCm39) F62S probably damaging Het
Pcnt G A 10: 76,228,633 (GRCm39) Q1511* probably null Het
Piezo2 G T 18: 63,211,852 (GRCm39) T1311K probably damaging Het
Pik3c2a T C 7: 115,953,241 (GRCm39) Y1218C probably damaging Het
Pik3r4 T A 9: 105,546,364 (GRCm39) S905T probably benign Het
Pikfyve T A 1: 65,285,867 (GRCm39) D1035E probably damaging Het
Pkn3 G C 2: 29,979,989 (GRCm39) G744A probably damaging Het
Pms1 A G 1: 53,234,174 (GRCm39) S781P probably benign Het
Pogz C T 3: 94,785,255 (GRCm39) R793W probably damaging Het
Prrc2a A T 17: 35,376,405 (GRCm39) V795D probably damaging Het
Rock1 G A 18: 10,101,026 (GRCm39) R630* probably null Het
Scd4 T A 19: 44,322,617 (GRCm39) I70N possibly damaging Het
Serpine2 A G 1: 79,799,159 (GRCm39) S32P probably damaging Het
Slc9c1 A C 16: 45,374,618 (GRCm39) T328P probably damaging Het
Spata31d1b G C 13: 59,864,194 (GRCm39) L447F probably benign Het
Speer2 A G 16: 69,654,965 (GRCm39) S167P probably benign Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Tbcel C A 9: 42,362,957 (GRCm39) G29W probably damaging Het
Tmcc3 T C 10: 94,414,468 (GRCm39) S57P possibly damaging Het
Tmem240 T A 4: 155,824,304 (GRCm39) D125E possibly damaging Het
Ttll7 G A 3: 146,667,510 (GRCm39) C792Y possibly damaging Het
Vmn1r177 T A 7: 23,565,112 (GRCm39) I255F probably damaging Het
Zp2 T A 7: 119,734,388 (GRCm39) I554F 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
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
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 2014-08-25