Incidental Mutation 'R7025:Dpt'
ID 545882
Institutional Source Beutler Lab
Gene Symbol Dpt
Ensembl Gene ENSMUSG00000026574
Gene Name dermatopontin
Synonyms EQ-1, early quiescence protein-1, 5033416F05Rik, 1810032B19Rik
MMRRC Submission 045126-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R7025 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 164624232-164651843 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 164624508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 70 (D70N)
Ref Sequence ENSEMBL: ENSMUSP00000027861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027861]
AlphaFold Q9QZZ6
Predicted Effect probably damaging
Transcript: ENSMUST00000027861
AA Change: D70N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027861
Gene: ENSMUSG00000026574
AA Change: D70N

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:DERM 40 196 1e-37 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dermatopontin is an extracellular matrix protein with possible functions in cell-matrix interactions and matrix assembly. The protein is found in various tissues and many of its tyrosine residues are sulphated. Dermatopontin is postulated to modify the behavior of TGF-beta through interaction with decorin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit skin with increased elasticity, decreased thickness, and reduced collagen content, and possess more subcutaneous adipose tissue. Corneal thickness is reduced as well. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd4 T A 11: 102,995,364 (GRCm39) L90M probably damaging Het
Acot7 T C 4: 152,262,646 (GRCm39) S7P unknown Het
Ahcyl2 T C 6: 29,908,420 (GRCm39) Y388H probably damaging Het
Atp1a2 T A 1: 172,112,117 (GRCm39) R593* probably null Het
Bicral T C 17: 47,112,594 (GRCm39) T869A probably benign Het
Brca2 C T 5: 150,463,943 (GRCm39) P1236S probably benign Het
Cacna2d1 C T 5: 16,557,666 (GRCm39) Q699* probably null Het
Ccser2 T C 14: 36,661,964 (GRCm39) N407D probably damaging Het
Cd300lg A G 11: 101,933,900 (GRCm39) Y49C probably damaging Het
Cdh12 C A 15: 21,358,900 (GRCm39) T108K probably damaging Het
Ctnnd1 A T 2: 84,440,950 (GRCm39) I715K possibly damaging Het
Cyp17a1 T A 19: 46,659,419 (GRCm39) D137V probably damaging Het
Dbr1 A G 9: 99,458,036 (GRCm39) T19A probably damaging Het
Dnah3 C T 7: 119,629,233 (GRCm39) A1441T possibly damaging Het
Elk4 C A 1: 131,947,107 (GRCm39) P366Q probably damaging Het
Eml4 A C 17: 83,732,740 (GRCm39) D131A probably benign Het
Faap24 A G 7: 35,092,296 (GRCm39) I207T possibly damaging Het
Fam219a T C 4: 41,521,925 (GRCm39) S41G probably benign Het
Gask1b T C 3: 79,793,855 (GRCm39) Y108H probably damaging Het
Ifi203 T C 1: 173,755,951 (GRCm39) probably benign Het
Inpp4a T C 1: 37,408,504 (GRCm39) V295A probably benign Het
Kif2a A G 13: 107,119,102 (GRCm39) Y267H probably damaging Het
Kprp T A 3: 92,732,504 (GRCm39) Q182L probably benign Het
Krt90 T C 15: 101,465,610 (GRCm39) K337R possibly damaging Het
Lrp2 T A 2: 69,313,372 (GRCm39) Y2453F possibly damaging Het
Magel2 A C 7: 62,029,535 (GRCm39) Y813S unknown Het
Myh7 C A 14: 55,212,101 (GRCm39) E1548* probably null Het
Myh8 A G 11: 67,188,365 (GRCm39) T1009A probably benign Het
Nab2 T A 10: 127,502,377 (GRCm39) probably benign Het
Neb T C 2: 52,186,285 (GRCm39) D929G possibly damaging Het
Nelfb A C 2: 25,100,505 (GRCm39) V155G probably damaging Het
Nmur1 C A 1: 86,315,570 (GRCm39) M65I possibly damaging Het
Nop56 C T 2: 130,119,801 (GRCm39) R81* probably null Het
Npnt C T 3: 132,614,157 (GRCm39) C47Y probably damaging Het
Nrp1 G T 8: 129,207,435 (GRCm39) C610F probably damaging Het
Or4a71 T A 2: 89,357,948 (GRCm39) I269F probably damaging Het
Or5d45 T C 2: 88,153,606 (GRCm39) K148E probably damaging Het
Or6c63-ps1 T A 10: 128,900,544 (GRCm39) M1L probably benign Het
Pax5 G A 4: 44,679,501 (GRCm39) Q93* probably null Het
Pcnt G T 10: 76,239,669 (GRCm39) Q1273K probably damaging Het
Pde4dip G A 3: 97,631,499 (GRCm39) Q1137* probably null Het
Pfas A T 11: 68,881,586 (GRCm39) D959E probably benign Het
Pira13 T A 7: 3,824,261 (GRCm39) K629* probably null Het
Prex1 TCCGACCCC TCCGACCCCGACCCC 2: 166,455,107 (GRCm39) probably benign Het
Prpf40b C T 15: 99,204,281 (GRCm39) Q182* probably null Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rpe65 A C 3: 159,328,322 (GRCm39) E406A probably damaging Het
Serpina3k A T 12: 104,307,401 (GRCm39) Y211F probably benign Het
Shkbp1 T C 7: 27,054,706 (GRCm39) I65V possibly damaging Het
Slc22a29 G A 19: 8,137,944 (GRCm39) P544S probably benign Het
Stab2 T C 10: 86,686,701 (GRCm39) D2281G probably damaging Het
Tjp2 A G 19: 24,110,052 (GRCm39) M64T probably benign Het
Tnfrsf8 C T 4: 145,000,973 (GRCm39) V378I possibly damaging Het
Trpm1 A T 7: 63,876,462 (GRCm39) probably null Het
Ubqln3 A G 7: 103,790,482 (GRCm39) I536T probably benign Het
Vmn1r44 A G 6: 89,870,736 (GRCm39) T161A possibly damaging Het
Vmn2r108 T A 17: 20,691,345 (GRCm39) I393F possibly damaging Het
Other mutations in Dpt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Dpt APN 1 164,624,379 (GRCm39) missense unknown
R3405:Dpt UTSW 1 164,624,500 (GRCm39) missense probably damaging 1.00
R3406:Dpt UTSW 1 164,624,500 (GRCm39) missense probably damaging 1.00
R4704:Dpt UTSW 1 164,646,518 (GRCm39) nonsense probably null
R6558:Dpt UTSW 1 164,624,380 (GRCm39) missense unknown
R7212:Dpt UTSW 1 164,624,484 (GRCm39) missense probably benign 0.33
R7584:Dpt UTSW 1 164,646,477 (GRCm39) missense probably benign 0.01
R7605:Dpt UTSW 1 164,624,400 (GRCm39) missense unknown
R8085:Dpt UTSW 1 164,650,756 (GRCm39) missense probably damaging 0.99
R8094:Dpt UTSW 1 164,624,481 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTCTTCTGCCACTGGTGAC -3'
(R):5'- GCAATAGCAAGTTTAGGATGTGC -3'

Sequencing Primer
(F):5'- TTCTGCCACTGGTGACCACAG -3'
(R):5'- ATGAGCCCTGCTATTTTAAGGACC -3'
Posted On 2019-05-13