Incidental Mutation 'R6558:Dpt'
ID 522220
Institutional Source Beutler Lab
Gene Symbol Dpt
Ensembl Gene ENSMUSG00000026574
Gene Name dermatopontin
Synonyms EQ-1, early quiescence protein-1, 5033416F05Rik, 1810032B19Rik
MMRRC Submission 044682-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R6558 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 164624232-164651843 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 164624380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 27 (Y27C)
Ref Sequence ENSEMBL: ENSMUSP00000027861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027861]
AlphaFold Q9QZZ6
Predicted Effect unknown
Transcript: ENSMUST00000027861
AA Change: Y27C
SMART Domains Protein: ENSMUSP00000027861
Gene: ENSMUSG00000026574
AA Change: Y27C

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:DERM 40 196 1e-37 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (31/31)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 T C 10: 20,839,572 (GRCm39) V161A probably damaging Het
Anxa3 A G 5: 96,960,798 (GRCm39) probably null Het
Cftr T C 6: 18,222,527 (GRCm39) I261T probably damaging Het
Chml A T 1: 175,514,748 (GRCm39) M391K probably damaging Het
Cog2 T C 8: 125,276,971 (GRCm39) L659P probably damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Cxcl2 T C 5: 91,052,224 (GRCm39) L71P probably damaging Het
Cxcl5 A G 5: 90,907,677 (GRCm39) E83G probably damaging Het
Drc3 A T 11: 60,255,718 (GRCm39) I102F probably damaging Het
Fam83h T C 15: 75,876,302 (GRCm39) D345G probably damaging Het
Gm14412 G T 2: 177,006,347 (GRCm39) T516K probably damaging Het
Grip1 A G 10: 119,290,288 (GRCm39) N7D probably benign Het
Hoxc11 T C 15: 102,863,301 (GRCm39) L114P probably damaging Het
Htr7 T C 19: 36,034,640 (GRCm39) N5S probably damaging Het
Ifi208 C T 1: 173,510,589 (GRCm39) T248I probably damaging Het
Lrrc71 G A 3: 87,649,950 (GRCm39) T326M probably benign Het
Map7d1 G A 4: 126,126,702 (GRCm39) A798V unknown Het
Mfsd13a T A 19: 46,354,917 (GRCm39) N31K probably damaging Het
Myadm T A 7: 3,345,577 (GRCm39) I113N probably damaging Het
Myo18a A G 11: 77,741,678 (GRCm39) E1509G probably damaging Het
Nalcn C G 14: 123,723,919 (GRCm39) R382P probably benign Het
Ogfr C T 2: 180,237,197 (GRCm39) P594L possibly damaging Het
Or2r11 T A 6: 42,437,711 (GRCm39) M81L probably benign Het
Or5p80 T A 7: 108,229,395 (GRCm39) H65Q probably damaging Het
Pkd1l1 C T 11: 8,839,052 (GRCm39) M877I probably benign Het
Sec23a A T 12: 59,051,338 (GRCm39) S102T probably benign Het
Stoml1 T A 9: 58,163,951 (GRCm39) V90E probably damaging Het
Stra8 G A 6: 34,909,975 (GRCm39) W111* probably null Het
Timeless T A 10: 128,085,432 (GRCm39) V850D probably benign Het
Unc5c A T 3: 141,495,490 (GRCm39) D453V probably damaging Het
Xdh T G 17: 74,200,708 (GRCm39) T1138P possibly damaging Het
Zkscan6 A T 11: 65,719,051 (GRCm39) H357L probably benign 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
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'- ATCCAGTTCACCCACATCTGG -3'
(R):5'- GGACCAAACTTCTCCCATGC -3'

Sequencing Primer
(F):5'- GGAACCACATGTCAGCGG -3'
(R):5'- TGCAGTACATACACAGATGTTCC -3'
Posted On 2018-06-06