Incidental Mutation 'R6087:Oscar'
Institutional Source Beutler Lab
Gene Symbol Oscar
Ensembl Gene ENSMUSG00000054594
Gene Nameosteoclast associated receptor
MMRRC Submission 044244-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6087 (G1)
Quality Score225.009
Status Not validated
Chromosomal Location3609813-3616157 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 3611312 bp
Amino Acid Change Proline to Serine at position 143 (P143S)
Ref Sequence ENSEMBL: ENSMUSP00000041306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039507] [ENSMUST00000108645] [ENSMUST00000148012]
Predicted Effect probably benign
Transcript: ENSMUST00000039507
AA Change: P143S

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000041306
Gene: ENSMUSG00000054594
AA Change: P143S

signal peptide 1 24 N/A INTRINSIC
IG 43 126 1.03e0 SMART
internal_repeat_1 133 218 3.4e-10 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000108645
AA Change: P137S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000104285
Gene: ENSMUSG00000054594
AA Change: P137S

signal peptide 1 18 N/A INTRINSIC
IG 37 120 1.03e0 SMART
Pfam:Ig_2 128 215 4.7e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148012
AA Change: P126S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123672
Gene: ENSMUSG00000054594
AA Change: P126S

IG 26 109 1.03e0 SMART
Pfam:Ig_2 117 204 2.8e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148645
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Osteoclasts are multinucleated cells that resorb bone and are essential for bone homeostasis. This gene encodes an osteoclast-associated receptor (OSCAR), which is a member of the leukocyte receptor complex protein family that plays critical roles in the regulation of both innate and adaptive immune responses. The encoded protein may play a role in oxidative stress-mediated atherogenesis as well as monocyte adhesion. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
PHENOTYPE: Bone marrow macrophage from mice homozygous for a knock-out allele exhibit impaired osteoclast differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A G 5: 87,971,762 K126R possibly damaging Het
9330182L06Rik T C 5: 9,399,255 S128P probably damaging Het
Adam7 A T 14: 68,510,757 C548S probably damaging Het
Adar C A 3: 89,745,590 H260N probably benign Het
Ak9 A G 10: 41,382,832 E775G probably benign Het
Arhgap35 T C 7: 16,563,643 Y499C probably damaging Het
Bank1 A G 3: 136,066,429 L480P probably damaging Het
Cep135 G T 5: 76,615,791 probably null Het
Cnga1 G T 5: 72,610,812 A177E probably damaging Het
Cubn T A 2: 13,427,847 D1221V probably damaging Het
Cyp2d40 T C 15: 82,764,004 Y36C possibly damaging Het
Dock8 C A 19: 25,161,074 N1254K probably benign Het
Fam13b C T 18: 34,487,139 V231I possibly damaging Het
Fbxo8 T A 8: 56,569,318 Y122N probably damaging Het
Fmo2 T A 1: 162,880,433 I378F probably benign Het
Golga3 A T 5: 110,204,946 Q861L probably damaging Het
Hjurp GT GTT 1: 88,266,524 probably null Het
Ighv3-8 G T 12: 114,322,380 A114E probably damaging Het
Itga3 C T 11: 95,052,443 probably null Het
Kank1 G A 19: 25,409,724 V254I probably benign Het
Lipo5 A T 19: 33,465,975 I147K unknown Het
Lrfn2 A G 17: 49,071,126 S412G probably benign Het
Lrrn3 T C 12: 41,453,535 N261S possibly damaging Het
Mical2 C T 7: 112,318,485 Q350* probably null Het
Nras T C 3: 103,060,321 F78L probably damaging Het
Nudt9 A G 5: 104,050,813 I65V probably benign Het
Olfr1129 A G 2: 87,575,915 D277G probably benign Het
Olfr1293-ps A T 2: 111,528,181 E289V possibly damaging Het
Pla2g4d C T 2: 120,270,006 G615D probably damaging Het
Plekha1 T G 7: 130,900,571 S175A probably benign Het
Psg27 T C 7: 18,556,944 K445E probably benign Het
Rad51c A G 11: 87,380,879 Y318H probably benign Het
Ret G T 6: 118,176,291 T472K possibly damaging Het
Tarbp1 T C 8: 126,428,970 D1343G probably benign Het
Top2b C A 14: 16,409,864 R844S probably benign Het
Vmn1r171 T A 7: 23,633,004 M218K probably damaging Het
Vmn2r89 A T 14: 51,457,576 probably null Het
Zc3h13 T A 14: 75,330,709 D1147E probably damaging Het
Zgrf1 T A 3: 127,615,486 L1703H probably damaging Het
Other mutations in Oscar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02980:Oscar APN 7 3611063 splice site probably benign
R0038:Oscar UTSW 7 3616073 missense probably benign
R0245:Oscar UTSW 7 3611574 splice site probably benign
R1710:Oscar UTSW 7 3611856 nonsense probably null
R4873:Oscar UTSW 7 3616017 splice site probably null
R6088:Oscar UTSW 7 3611312 missense probably benign 0.43
R7069:Oscar UTSW 7 3611239 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2017-08-16