Incidental Mutation 'R8426:Ogn'
ID 653489
Institutional Source Beutler Lab
Gene Symbol Ogn
Ensembl Gene ENSMUSG00000021390
Gene Name osteoglycin
Synonyms 3110079A16Rik, SLRR3A, mimican, mimecan, OG
MMRRC Submission 067820-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.448) question?
Stock # R8426 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 49761522-49777977 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 49774567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 237 (R237C)
Ref Sequence ENSEMBL: ENSMUSP00000021822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021818] [ENSMUST00000021822]
AlphaFold Q62000
Predicted Effect probably benign
Transcript: ENSMUST00000021818
SMART Domains Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391

DomainStartEndE-ValueType
coiled coil region 1 34 N/A INTRINSIC
Pfam:CENP-P 102 278 3.9e-89 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000021822
AA Change: R237C

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021822
Gene: ENSMUSG00000021390
AA Change: R237C

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LRRNT 93 123 3.52e0 SMART
LRR_TYP 142 165 4.4e-2 SMART
LRR 166 187 1.33e2 SMART
LRR 212 235 3.78e-1 SMART
LRR 236 256 5.27e1 SMART
low complexity region 263 271 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded protein induces ectopic bone formation in conjunction with transforming growth factor beta and may regulate osteoblast differentiation. High expression of the encoded protein may be associated with elevated heart left ventricular mass. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a disruption in this gene display reduced collagen fiber density and organization, as well as more variability in fibrilar diameter in both the skin and the cornea. Corneal clarity was unaffected whereas skin tensile strength was reduced. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,155,606 (GRCm39) H32R probably benign Het
Abcb1b T C 5: 8,911,632 (GRCm39) probably null Het
Aicda A T 6: 122,538,150 (GRCm39) N103Y probably damaging Het
Bsn T C 9: 108,003,772 (GRCm39) E211G probably damaging Het
Casp9 T C 4: 141,540,936 (GRCm39) Y435H probably damaging Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Ceacam5 T C 7: 17,493,266 (GRCm39) V763A possibly damaging Het
Cxcr6 A G 9: 123,639,071 (GRCm39) N31S probably benign Het
Elapor1 G A 3: 108,378,742 (GRCm39) A352V probably damaging Het
Gm17728 A G 17: 9,641,231 (GRCm39) T114A probably benign Het
Gnao1 A T 8: 94,622,857 (GRCm39) probably null Het
Iffo2 A T 4: 139,342,291 (GRCm39) Y451F probably damaging Het
Ints4 G A 7: 97,150,239 (GRCm39) W258* probably null Het
Ipo11 T C 13: 106,978,678 (GRCm39) D834G possibly damaging Het
Kif5a T C 10: 127,067,358 (GRCm39) D853G probably damaging Het
Lama4 A G 10: 38,979,487 (GRCm39) E1655G probably damaging Het
Lepr G A 4: 101,671,841 (GRCm39) S955N probably benign Het
Lrp1b T C 2: 41,388,318 (GRCm39) I550V Het
Mov10l1 T A 15: 88,881,608 (GRCm39) probably null Het
Mroh9 A T 1: 162,852,294 (GRCm39) D798E probably damaging Het
Myo10 A G 15: 25,799,576 (GRCm39) I1380V probably damaging Het
Neu2 C T 1: 87,524,387 (GRCm39) S124L probably damaging Het
Nol6 T C 4: 41,119,870 (GRCm39) I543V probably benign Het
Nrxn3 G A 12: 88,762,097 (GRCm39) R48H possibly damaging Het
Or10aa3 T C 1: 173,878,146 (GRCm39) L69P probably damaging Het
Or8b46 A T 9: 38,450,620 (GRCm39) Y143F probably damaging Het
Phf24 C T 4: 42,933,785 (GRCm39) Q19* probably null Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Ptch2 G T 4: 116,965,369 (GRCm39) S318I possibly damaging Het
Sart1 A G 19: 5,433,769 (GRCm39) M356T probably benign Het
Slit2 A G 5: 48,382,105 (GRCm39) N529D probably benign Het
Smchd1 A C 17: 71,755,598 (GRCm39) D261E probably damaging Het
Tcerg1 G A 18: 42,681,466 (GRCm39) V538I possibly damaging Het
Thada A T 17: 84,530,131 (GRCm39) M1746K probably benign Het
Thsd1 A G 8: 22,733,654 (GRCm39) I234V probably benign Het
Tm9sf4 G A 2: 153,045,736 (GRCm39) G536D probably damaging Het
Tmprss11c G T 5: 86,379,677 (GRCm39) N410K probably damaging Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Unc5d G T 8: 29,210,016 (GRCm39) S440Y probably damaging Het
Vmn1r44 A G 6: 89,870,470 (GRCm39) D72G probably benign Het
Vmn1r68 T C 7: 10,261,382 (GRCm39) N239D probably benign Het
Vmn2r107 T A 17: 20,577,239 (GRCm39) H412Q possibly damaging Het
Other mutations in Ogn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Ogn APN 13 49,774,514 (GRCm39) missense probably damaging 1.00
IGL00475:Ogn APN 13 49,776,391 (GRCm39) missense probably benign 0.01
IGL01830:Ogn APN 13 49,762,723 (GRCm39) nonsense probably null
R0116:Ogn UTSW 13 49,774,514 (GRCm39) missense possibly damaging 0.89
R1546:Ogn UTSW 13 49,762,809 (GRCm39) missense probably benign 0.00
R1554:Ogn UTSW 13 49,774,520 (GRCm39) missense probably benign 0.00
R3752:Ogn UTSW 13 49,776,307 (GRCm39) missense probably benign 0.44
R4005:Ogn UTSW 13 49,762,775 (GRCm39) missense possibly damaging 0.82
R5323:Ogn UTSW 13 49,762,817 (GRCm39) missense probably benign 0.00
R5946:Ogn UTSW 13 49,771,761 (GRCm39) missense probably benign 0.01
R7854:Ogn UTSW 13 49,774,514 (GRCm39) missense possibly damaging 0.89
R7970:Ogn UTSW 13 49,762,742 (GRCm39) missense probably benign
R9558:Ogn UTSW 13 49,764,783 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- CACACTGCTAAGGAGGTCACAAG -3'
(R):5'- ACTCTGGACTGGACCTACAG -3'

Sequencing Primer
(F):5'- TACTGACACTACTGAAATGTGCAC -3'
(R):5'- CTGGACCTACAGTTCTTATATAGGC -3'
Posted On 2020-10-20