Incidental Mutation 'R3405:Dpt'
ID 259315
Institutional Source Beutler Lab
Gene Symbol Dpt
Ensembl Gene ENSMUSG00000026574
Gene Name dermatopontin
Synonyms EQ-1, early quiescence protein-1, 5033416F05Rik, 1810032B19Rik
MMRRC Submission 040623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R3405 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 164624232-164651843 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 164624500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 67 (E67A)
Ref Sequence ENSEMBL: ENSMUSP00000027861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027861]
AlphaFold Q9QZZ6
Predicted Effect probably damaging
Transcript: ENSMUST00000027861
AA Change: E67A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027861
Gene: ENSMUSG00000026574
AA Change: E67A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:DERM 40 196 1e-37 PFAM
Meta Mutation Damage Score 0.1577 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.4%
Validation Efficiency 100% (53/53)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Bcorl1 T A X: 47,459,884 (GRCm39) M1139K probably benign Het
C2cd3 T C 7: 100,039,373 (GRCm39) S191P probably benign Het
Cdc27 T C 11: 104,398,026 (GRCm39) E778G probably damaging Het
Col3a1 G A 1: 45,377,913 (GRCm39) probably benign Het
Cubn C T 2: 13,338,319 (GRCm39) V2350I probably benign Het
Dhodh G A 8: 110,330,107 (GRCm39) R86* probably null Het
Dnhd1 C T 7: 105,343,968 (GRCm39) Q1771* probably null Het
Eif2ak2 A G 17: 79,166,068 (GRCm39) probably benign Het
Exo1 A G 1: 175,733,536 (GRCm39) K787E possibly damaging Het
Fancm T C 12: 65,122,546 (GRCm39) S23P probably benign Het
Fmn1 A G 2: 113,194,693 (GRCm39) E131G unknown Het
Gm5612 A T 9: 18,339,149 (GRCm39) probably benign Het
Gsdma T C 11: 98,563,964 (GRCm39) probably benign Het
Hormad2 T G 11: 4,374,302 (GRCm39) Q88P probably damaging Het
Immp2l T A 12: 41,160,846 (GRCm39) L48* probably null Het
Kcne4 C T 1: 78,795,688 (GRCm39) A112V possibly damaging Het
Lamb1 C T 12: 31,337,528 (GRCm39) R372C probably damaging Het
Lrrc30 A G 17: 67,939,175 (GRCm39) L135P probably damaging Het
Ltn1 A T 16: 87,213,103 (GRCm39) V486D probably damaging Het
Mab21l3 C A 3: 101,730,847 (GRCm39) V131F probably damaging Het
Map3k4 A T 17: 12,475,668 (GRCm39) F809Y probably damaging Het
Mki67 T A 7: 135,309,204 (GRCm39) T416S probably benign Het
Mlst8 A T 17: 24,697,099 (GRCm39) M56K probably benign Het
Mmp9 A G 2: 164,791,310 (GRCm39) Y160C probably damaging Het
Mslnl A G 17: 25,965,155 (GRCm39) Y507C probably damaging Het
Myl12a A T 17: 71,301,737 (GRCm39) M130K probably benign Het
Myrfl A G 10: 116,658,770 (GRCm39) F396L probably damaging Het
Nalf2 A G X: 98,889,109 (GRCm39) I325V probably benign Het
Ncf2 A G 1: 152,701,698 (GRCm39) probably benign Het
Nlrp9c T A 7: 26,084,707 (GRCm39) I291F probably benign Het
Nrp1 T A 8: 129,224,569 (GRCm39) Y777* probably null Het
Ogdh T C 11: 6,299,462 (GRCm39) V776A probably damaging Het
Pcdh17 T A 14: 84,684,062 (GRCm39) D176E probably damaging Het
Plg G T 17: 12,622,096 (GRCm39) S472I possibly damaging Het
Pnlip A G 19: 58,669,191 (GRCm39) T397A probably benign Het
Rbfox3 T A 11: 118,387,283 (GRCm39) Q277L possibly damaging Het
Senp7 T A 16: 56,008,640 (GRCm39) W1007R probably damaging Het
Stap2 A T 17: 56,304,511 (GRCm39) W374R probably benign Het
Szt2 A G 4: 118,251,217 (GRCm39) V297A probably benign Het
Thada A T 17: 84,538,213 (GRCm39) probably benign Het
Ticrr G C 7: 79,344,539 (GRCm39) S1468T probably benign Het
Uvssa G T 5: 33,547,162 (GRCm39) G243C probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vwa8 T A 14: 79,401,660 (GRCm39) probably benign Het
Zfp609 A T 9: 65,608,454 (GRCm39) M1142K possibly damaging Het
Other mutations in Dpt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Dpt APN 1 164,624,379 (GRCm39) missense unknown
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
R7025:Dpt UTSW 1 164,624,508 (GRCm39) missense probably damaging 0.98
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 2015-01-23