Incidental Mutation 'R7584:Dpt'
ID 586940
Institutional Source Beutler Lab
Gene Symbol Dpt
Ensembl Gene ENSMUSG00000026574
Gene Name dermatopontin
Synonyms EQ-1, early quiescence protein-1, 5033416F05Rik, 1810032B19Rik
MMRRC Submission 045667-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R7584 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 164624232-164651843 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 164646477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 149 (Y149H)
Ref Sequence ENSEMBL: ENSMUSP00000027861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027861]
AlphaFold Q9QZZ6
Predicted Effect probably benign
Transcript: ENSMUST00000027861
AA Change: Y149H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000027861
Gene: ENSMUSG00000026574
AA Change: Y149H

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:DERM 40 196 1e-37 PFAM
Meta Mutation Damage Score 0.0831 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (74/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,626,304 (GRCm39) probably null Het
Actrt3 T C 3: 30,652,356 (GRCm39) K246R probably benign Het
Adam23 T A 1: 63,584,621 (GRCm39) V343D probably damaging Het
Ak2 T C 4: 128,893,005 (GRCm39) S55P probably damaging Het
Ank2 G A 3: 126,739,777 (GRCm39) Q2036* probably null Het
Ano10 A G 9: 122,104,597 (GRCm39) I40T probably benign Het
Aoc2 T A 11: 101,217,005 (GRCm39) C363S possibly damaging Het
Aplp2 A T 9: 31,069,077 (GRCm39) V584E possibly damaging Het
Arhgap32 A T 9: 32,168,263 (GRCm39) T749S probably benign Het
Atm A T 9: 53,424,427 (GRCm39) F625I probably damaging Het
Atr T C 9: 95,824,766 (GRCm39) L2387P probably damaging Het
Barhl1 C T 2: 28,799,803 (GRCm39) G274D probably damaging Het
Bcl2a1a A T 9: 88,839,345 (GRCm39) D81V probably damaging Het
Ccdc63 T G 5: 122,251,267 (GRCm39) D381A possibly damaging Het
Col12a1 A G 9: 79,610,578 (GRCm39) probably null Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Cyp4b1 T A 4: 115,485,884 (GRCm39) D351V probably damaging Het
D130043K22Rik A G 13: 25,056,353 (GRCm39) S562G probably damaging Het
Dgkb T A 12: 38,189,391 (GRCm39) probably null Het
Dmbt1 C T 7: 130,690,481 (GRCm39) Q905* probably null Het
Dnajc21 A C 15: 10,462,381 (GRCm39) Y81* probably null Het
Dnali1 T C 4: 124,959,331 (GRCm39) T21A probably benign Het
Dpp8 A T 9: 64,986,064 (GRCm39) L851F probably damaging Het
Ep300 T C 15: 81,512,627 (GRCm39) V983A unknown Het
Faf1 C T 4: 109,783,154 (GRCm39) R549C probably damaging Het
Gcm1 A G 9: 77,971,749 (GRCm39) N230S possibly damaging Het
Gm10803 T A 2: 93,394,513 (GRCm39) I95N probably damaging Het
Hectd4 T A 5: 121,456,798 (GRCm39) I721N possibly damaging Het
Hsp90ab1 T C 17: 45,881,197 (GRCm39) H315R probably damaging Het
Igkv10-95 T A 6: 68,657,740 (GRCm39) S85R possibly damaging Het
Katnip G T 7: 125,469,838 (GRCm39) V1436L probably damaging Het
Kcnq5 T C 1: 21,472,545 (GRCm39) T901A probably benign Het
Kremen1 C T 11: 5,144,964 (GRCm39) V471M possibly damaging Het
Lama2 C A 10: 26,980,257 (GRCm39) D1853Y possibly damaging Het
Lrif1 A G 3: 106,639,217 (GRCm39) T76A probably benign Het
Lrrtm2 T A 18: 35,345,818 (GRCm39) I495F possibly damaging Het
Ltbr G T 6: 125,284,204 (GRCm39) Q413K probably benign Het
Ms4a20 A G 19: 11,087,725 (GRCm39) F69L possibly damaging Het
Myrfl T A 10: 116,664,902 (GRCm39) Y376F probably damaging Het
Nup50l A C 6: 96,142,373 (GRCm39) L224V probably benign Het
Nup98 G T 7: 101,825,596 (GRCm39) N414K probably benign Het
Nynrin A G 14: 56,109,041 (GRCm39) T1383A probably damaging Het
Or4c15 G A 2: 88,760,149 (GRCm39) P170L probably damaging Het
Or5j1 A T 2: 86,879,478 (GRCm39) I34N probably benign Het
Or6c208 T A 10: 129,223,901 (GRCm39) I133N probably damaging Het
Or7g27 C A 9: 19,250,569 (GRCm39) T271K possibly damaging Het
Or8b1d G T 9: 38,558,191 (GRCm39) P210T possibly damaging Het
Pcdhb5 T A 18: 37,455,425 (GRCm39) S602T possibly damaging Het
Sall3 A G 18: 81,017,745 (GRCm39) F61S probably benign Het
Scube1 G T 15: 83,606,088 (GRCm39) C61* probably null Het
Sec31b T C 19: 44,519,995 (GRCm39) probably null Het
Sec31b T C 19: 44,531,762 (GRCm39) D49G probably damaging Het
Skic2 A G 17: 35,060,651 (GRCm39) I822T possibly damaging Het
Slc19a3 C T 1: 83,000,469 (GRCm39) V183M possibly damaging Het
Slc41a2 T C 10: 83,152,653 (GRCm39) probably benign Het
Sphk2 C A 7: 45,361,931 (GRCm39) V169L probably damaging Het
Synpo C A 18: 60,729,349 (GRCm39) R951L probably damaging Het
Tbc1d9b G A 11: 50,061,543 (GRCm39) C1017Y probably damaging Het
Tmtc4 C A 14: 123,215,563 (GRCm39) V28F probably benign Het
Tprkb A G 6: 85,905,809 (GRCm39) I165V probably benign Het
Ttc23l T A 15: 10,533,794 (GRCm39) I250F probably damaging Het
Tut4 T C 4: 108,336,543 (GRCm39) V89A probably benign Het
Ubr3 G A 2: 69,821,847 (GRCm39) V1370I probably damaging Het
Ush2a A G 1: 188,460,306 (GRCm39) probably null Het
Usp9y T C Y: 1,384,451 (GRCm39) Y689C probably damaging Het
Vmn1r56 A T 7: 5,198,895 (GRCm39) Y241N probably damaging Het
Vmn2r6 T C 3: 64,472,683 (GRCm39) T13A probably benign Het
Vmn2r92 T A 17: 18,387,028 (GRCm39) N122K probably benign Het
Vps9d1 A G 8: 123,977,456 (GRCm39) F131S probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wfdc16 A T 2: 164,480,547 (GRCm39) probably null Het
Zbtb41 T A 1: 139,351,795 (GRCm39) Y303N probably benign Het
Zbtb5 T C 4: 44,993,678 (GRCm39) T569A probably benign Het
Zfp111 A G 7: 23,898,025 (GRCm39) S530P 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
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
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'- AGCTACAGTTGCTGATGCTG -3'
(R):5'- TCGGGGTCATCAGGTAAAAGAC -3'

Sequencing Primer
(F):5'- GCTAAGTGGACAGTTTGATAGC -3'
(R):5'- GGTAAAAGACCCCACAGTCAGG -3'
Posted On 2019-10-24