Incidental Mutation 'R7970:Ogn'
ID 650575
Institutional Source Beutler Lab
Gene Symbol Ogn
Ensembl Gene ENSMUSG00000021390
Gene Name osteoglycin
Synonyms 3110079A16Rik, SLRR3A, mimican, mimecan, OG
MMRRC Submission 046013-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.403) question?
Stock # R7970 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 49761522-49777977 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49762742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 28 (H28L)
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 probably benign
Transcript: ENSMUST00000021822
AA Change: H28L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021822
Gene: ENSMUSG00000021390
AA Change: H28L

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat1 A G 4: 49,449,266 (GRCm39) F167L probably damaging Het
Acsbg2 A G 17: 57,156,728 (GRCm39) Y437H probably benign Het
Amotl2 C T 9: 102,600,968 (GRCm39) T345I probably benign Het
Anapc2 T C 2: 25,163,299 (GRCm39) S179P possibly damaging Het
Aopep A G 13: 63,180,974 (GRCm39) N312S probably benign Het
Arhgef1 G A 7: 24,616,306 (GRCm39) D317N probably damaging Het
Arrdc4 G A 7: 68,390,820 (GRCm39) P307S probably damaging Het
B3gnt2 T C 11: 22,786,255 (GRCm39) Y311C probably damaging Het
Brf1 T C 12: 112,927,820 (GRCm39) D453G probably damaging Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Dst G T 1: 34,221,828 (GRCm39) C2544F possibly damaging Het
Efhc1 C T 1: 21,022,019 (GRCm39) T21M probably benign Het
Efs A G 14: 55,157,960 (GRCm39) probably null Het
Elp1 A T 4: 56,771,466 (GRCm39) Y944N probably damaging Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Fam171a2 A T 11: 102,328,692 (GRCm39) V689E possibly damaging Het
Fam184a T C 10: 53,575,421 (GRCm39) T63A probably damaging Het
Fam186a T C 15: 99,831,467 (GRCm39) D2897G unknown Het
Fbxw11 T G 11: 32,672,101 (GRCm39) S224A probably benign Het
Flnc G T 6: 29,447,525 (GRCm39) E1109D possibly damaging Het
Foxn4 A G 5: 114,401,068 (GRCm39) probably null Het
Gm19410 A G 8: 36,282,801 (GRCm39) E2009G probably benign Het
Gm9958 A G 5: 90,515,568 (GRCm39) probably benign Het
Gprin3 C T 6: 59,330,150 (GRCm39) R719Q possibly damaging Het
Grip2 A T 6: 91,763,513 (GRCm39) I147N probably benign Het
H2-DMb2 A G 17: 34,369,572 (GRCm39) R239G probably benign Het
Hydin A C 8: 111,035,723 (GRCm39) D138A probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Lgr6 A G 1: 134,921,723 (GRCm39) I484T probably benign Het
Mkrn2 T A 6: 115,594,269 (GRCm39) C327S probably damaging Het
Mnt C T 11: 74,733,036 (GRCm39) A288V probably damaging Het
Nckap5 T A 1: 125,952,758 (GRCm39) K1265* probably null Het
Ncoa3 A T 2: 165,893,277 (GRCm39) H194L probably benign Het
Or56a41 C A 7: 104,740,556 (GRCm39) V97L probably benign Het
Or5b101 T A 19: 13,005,058 (GRCm39) I212F probably damaging Het
Or9m1b A T 2: 87,836,169 (GRCm39) F309I probably benign Het
Pclo T C 5: 14,764,492 (GRCm39) S1037P Het
Phlpp1 T A 1: 106,101,015 (GRCm39) Y428N probably damaging Het
Ptpre A G 7: 135,280,048 (GRCm39) T591A possibly damaging Het
Rtn1 A T 12: 72,355,648 (GRCm39) D99E probably benign Het
Scn7a A T 2: 66,506,173 (GRCm39) I1572N probably damaging Het
Sema3a T A 5: 13,649,375 (GRCm39) M708K possibly damaging Het
Slc12a4 G A 8: 106,678,237 (GRCm39) R319W possibly damaging Het
Slc9a2 T C 1: 40,765,374 (GRCm39) Y255H probably damaging Het
Spock3 T C 8: 63,798,749 (GRCm39) F254L probably damaging Het
St6gal1 G A 16: 23,176,585 (GRCm39) A393T probably benign Het
St6galnac2 T C 11: 116,581,169 (GRCm39) D51G probably benign Het
Stard13 T A 5: 150,986,726 (GRCm39) K261N possibly damaging Het
Tlk1 T C 2: 70,582,644 (GRCm39) R162G possibly damaging Het
Tlr2 T C 3: 83,745,201 (GRCm39) D294G probably benign Het
Tnks A G 8: 35,323,080 (GRCm39) probably null Het
Trip4 A G 9: 65,746,298 (GRCm39) S533P probably damaging Het
Ttc3 T A 16: 94,258,223 (GRCm39) W1674R probably damaging Het
Tut4 G A 4: 108,343,651 (GRCm39) S221N probably benign Het
Vmn2r114 T C 17: 23,530,186 (GRCm39) N74D probably benign Het
Zdbf2 T C 1: 63,343,330 (GRCm39) Y570H 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
R8426:Ogn UTSW 13 49,774,567 (GRCm39) missense possibly damaging 0.80
R9558:Ogn UTSW 13 49,764,783 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GGTCTACATTCTTACTTCCAGGG -3'
(R):5'- ACGCAACTCTAGGATCTTATGTAG -3'

Sequencing Primer
(F):5'- CTTCCAGGGAAAAAGAGTTTCGTTCC -3'
(R):5'- CAGCTATCACCTTAAAGTCTAATGTC -3'
Posted On 2020-09-15