Incidental Mutation 'R2355:Epyc'
ID 246879
Institutional Source Beutler Lab
Gene Symbol Epyc
Ensembl Gene ENSMUSG00000019936
Gene Name epiphycan
Synonyms SLRR3B, PG-Lb, Dspg3, epiphycan
MMRRC Submission 040337-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R2355 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 97479930-97517770 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97512875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 243 (Y243C)
Ref Sequence ENSEMBL: ENSMUSP00000100922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020094] [ENSMUST00000105285]
AlphaFold P70186
Predicted Effect probably damaging
Transcript: ENSMUST00000020094
AA Change: Y243C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020094
Gene: ENSMUSG00000019936
AA Change: Y243C

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LRRNT 117 147 1.79e-6 SMART
LRR 166 189 1.73e0 SMART
LRR 190 215 3.47e0 SMART
LRR 258 280 3.18e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105285
AA Change: Y243C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100922
Gene: ENSMUSG00000019936
AA Change: Y243C

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LRRNT 117 147 1.79e-6 SMART
LRR 166 189 1.73e0 SMART
LRR 190 215 3.47e0 SMART
LRR 258 280 3.18e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220233
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibrils and other extracellular matrix proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out exhibit short femurs and borderline osteoarthritis at 9 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 CGG CG 5: 124,215,368 (GRCm39) probably null Het
Ahcyl1 A G 3: 107,577,533 (GRCm39) S296P probably damaging Het
Alas1 A G 9: 106,113,673 (GRCm39) V524A probably damaging Het
Amn C A 12: 111,238,246 (GRCm39) D53E probably damaging Het
Bbof1 A G 12: 84,470,223 (GRCm39) E33G probably damaging Het
Ccdc149 T C 5: 52,578,114 (GRCm39) E106G probably damaging Het
Ceacam5 T A 7: 17,479,560 (GRCm39) S226T probably damaging Het
Chd7 G T 4: 8,801,350 (GRCm39) S698I possibly damaging Het
Chst2 A G 9: 95,288,148 (GRCm39) L66P probably damaging Het
Cps1 C T 1: 67,195,383 (GRCm39) P268L probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyp3a59 A T 5: 146,036,622 (GRCm39) M275L probably benign Het
Ddx41 T G 13: 55,682,113 (GRCm39) M232L probably benign Het
Dnah6 C A 6: 73,133,404 (GRCm39) A1068S possibly damaging Het
Dnah7a T C 1: 53,621,661 (GRCm39) I1155V probably benign Het
Dop1b G A 16: 93,567,565 (GRCm39) V611I probably damaging Het
Fam171a1 C T 2: 3,226,570 (GRCm39) Q568* probably null Het
Gm5930 A G 14: 44,573,918 (GRCm39) S105P probably damaging Het
Golga4 A G 9: 118,389,810 (GRCm39) D2032G probably benign Het
Gps2 AGTGCT A 11: 69,806,207 (GRCm39) probably null Het
H2-DMb1 A G 17: 34,376,289 (GRCm39) Y136C probably damaging Het
Il12b A G 11: 44,301,039 (GRCm39) E185G probably benign Het
Kat7 A C 11: 95,182,407 (GRCm39) I231R probably benign Het
Kcmf1 A T 6: 72,827,466 (GRCm39) I58N probably damaging Het
Lmf2 A T 15: 89,235,966 (GRCm39) V646E possibly damaging Het
Lmo7 A G 14: 102,126,121 (GRCm39) Q409R probably damaging Het
Lmod1 T A 1: 135,292,253 (GRCm39) H369Q probably benign Het
M1ap G A 6: 82,933,484 (GRCm39) A13T probably benign Het
Mapk8ip2 G T 15: 89,343,168 (GRCm39) V637L probably benign Het
Mettl25 C A 10: 105,599,316 (GRCm39) V570L probably benign Het
Mfsd1 T A 3: 67,508,668 (GRCm39) N449K probably damaging Het
Or56a5 A T 7: 104,793,020 (GRCm39) M166K probably benign Het
Or5b24 T C 19: 12,912,383 (GRCm39) S94P possibly damaging Het
Or5d18 T A 2: 87,865,379 (GRCm39) I35F probably damaging Het
Or6c209 G A 10: 129,483,711 (GRCm39) C238Y probably benign Het
Pcdhb5 T A 18: 37,455,169 (GRCm39) S516R probably benign Het
Plppr3 C T 10: 79,701,194 (GRCm39) M549I possibly damaging Het
Ppl A G 16: 4,912,361 (GRCm39) V740A probably benign Het
Rabgef1 C T 5: 130,240,928 (GRCm39) T349M probably benign Het
Rad51ap2 T C 12: 11,507,109 (GRCm39) C344R probably benign Het
Shank2 A G 7: 143,611,455 (GRCm39) Q172R possibly damaging Het
Smg9 G A 7: 24,119,546 (GRCm39) probably null Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Trim42 A T 9: 97,241,293 (GRCm39) N646K probably damaging Het
Usp32 T C 11: 84,896,735 (GRCm39) I1181V probably benign Het
Vwa5b1 C A 4: 138,319,221 (GRCm39) probably null Het
Other mutations in Epyc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Epyc APN 10 97,517,009 (GRCm39) missense probably benign 0.14
IGL01347:Epyc APN 10 97,510,593 (GRCm39) missense probably damaging 1.00
IGL01778:Epyc APN 10 97,517,099 (GRCm39) nonsense probably null
IGL02010:Epyc APN 10 97,485,563 (GRCm39) start codon destroyed probably null 1.00
IGL02159:Epyc APN 10 97,506,493 (GRCm39) missense probably benign 0.00
IGL03176:Epyc APN 10 97,485,562 (GRCm39) start codon destroyed probably null 0.99
R0110:Epyc UTSW 10 97,485,625 (GRCm39) missense probably benign 0.03
R0469:Epyc UTSW 10 97,485,625 (GRCm39) missense probably benign 0.03
R0510:Epyc UTSW 10 97,485,625 (GRCm39) missense probably benign 0.03
R1883:Epyc UTSW 10 97,511,695 (GRCm39) missense possibly damaging 0.83
R2013:Epyc UTSW 10 97,511,655 (GRCm39) missense probably damaging 1.00
R5005:Epyc UTSW 10 97,510,562 (GRCm39) missense probably benign 0.11
R5958:Epyc UTSW 10 97,485,704 (GRCm39) missense probably benign
R7311:Epyc UTSW 10 97,485,562 (GRCm39) start codon destroyed probably null 0.99
R8236:Epyc UTSW 10 97,517,067 (GRCm39) missense probably damaging 1.00
R8786:Epyc UTSW 10 97,511,525 (GRCm39) missense probably damaging 1.00
R8929:Epyc UTSW 10 97,511,607 (GRCm39) missense probably benign 0.26
R9486:Epyc UTSW 10 97,511,697 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGCTGCCTCGTGTAAACTGAG -3'
(R):5'- ATAGTCAATGGGTCATGATGGATG -3'

Sequencing Primer
(F):5'- GCTGCCTCGTGTAAACTGAGAAATTC -3'
(R):5'- GTCATGATGGATGAATTTGTTAAGCC -3'
Posted On 2014-10-30