Incidental Mutation 'IGL00770:Tnfrsf11b'
ID 277891
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfrsf11b
Ensembl Gene ENSMUSG00000063727
Gene Name tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)
Synonyms OPG, OCIF, TR1, osteoclastogenesis inhibitory factor, Opg
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # IGL00770
Quality Score
Status
Chromosome 15
Chromosomal Location 54114014-54141700 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 54117468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 262 (R262S)
Ref Sequence ENSEMBL: ENSMUSP00000078705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079772]
AlphaFold O08712
PDB Structure Crystal structure of mouse RANKL-OPG complex [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000079772
AA Change: R262S

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000078705
Gene: ENSMUSG00000063727
AA Change: R262S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TNFR 24 62 1.04e-2 SMART
TNFR 65 105 1.5e-8 SMART
TNFR 107 142 2.19e-10 SMART
TNFR 145 185 7.63e-1 SMART
DEATH 270 365 1.01e-9 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygote null mice have abnormal bone remodeling that results in severe osteoperosis with increased risk of fractures and growth retardation. Progressive hearing loss also results due to abnormal remodeling of the otic capsule. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,306,776 (GRCm39) A1397T possibly damaging Het
Aldob A G 4: 49,536,843 (GRCm39) S349P probably benign Het
Cd2 A T 3: 101,190,345 (GRCm39) probably null Het
Cmtm2a A G 8: 105,019,562 (GRCm39) S43P probably damaging Het
Cts6 T C 13: 61,346,153 (GRCm39) probably benign Het
E2f3 A T 13: 30,102,687 (GRCm39) D68E probably damaging Het
Ect2 G A 3: 27,152,592 (GRCm39) R869W probably damaging Het
Eml1 A G 12: 108,480,774 (GRCm39) probably null Het
Fundc1 T A X: 17,424,252 (GRCm39) probably null Het
Gabrb1 G T 5: 72,265,789 (GRCm39) probably null Het
Lrrk2 T G 15: 91,686,036 (GRCm39) probably benign Het
Map3k2 C T 18: 32,361,292 (GRCm39) P584L probably benign Het
Mindy2 T C 9: 70,538,315 (GRCm39) D340G probably benign Het
Nav3 T C 10: 109,652,124 (GRCm39) D877G probably damaging Het
Nol9 T C 4: 152,136,472 (GRCm39) S515P probably benign Het
Osgepl1 A G 1: 53,359,405 (GRCm39) I305V probably benign Het
Pign A G 1: 105,525,481 (GRCm39) V449A probably benign Het
Rad54b G A 4: 11,593,765 (GRCm39) R131K probably benign Het
Rgl3 A T 9: 21,899,018 (GRCm39) probably benign Het
Scn2a A G 2: 65,566,197 (GRCm39) D1407G probably damaging Het
Sf3b3 A T 8: 111,544,270 (GRCm39) I790N probably damaging Het
Srebf1 C T 11: 60,095,965 (GRCm39) R358Q probably damaging Het
Tmem18 A G 12: 30,638,720 (GRCm39) R133G unknown Het
Tsc1 A T 2: 28,555,023 (GRCm39) H171L probably damaging Het
Ubr5 T C 15: 38,006,785 (GRCm39) T1157A probably benign Het
Wdcp A G 12: 4,905,303 (GRCm39) E608G probably damaging Het
Other mutations in Tnfrsf11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Tnfrsf11b APN 15 54,123,238 (GRCm39) missense probably damaging 1.00
IGL00774:Tnfrsf11b APN 15 54,117,468 (GRCm39) missense probably benign 0.16
IGL02355:Tnfrsf11b APN 15 54,115,778 (GRCm39) missense probably damaging 0.96
IGL02362:Tnfrsf11b APN 15 54,115,778 (GRCm39) missense probably damaging 0.96
IGL02711:Tnfrsf11b APN 15 54,119,532 (GRCm39) missense probably benign 0.01
IGL02870:Tnfrsf11b APN 15 54,119,423 (GRCm39) missense probably benign 0.05
IGL03219:Tnfrsf11b APN 15 54,117,574 (GRCm39) nonsense probably null
P0012:Tnfrsf11b UTSW 15 54,123,194 (GRCm39) splice site probably benign
R1550:Tnfrsf11b UTSW 15 54,117,454 (GRCm39) missense possibly damaging 0.94
R1813:Tnfrsf11b UTSW 15 54,119,493 (GRCm39) nonsense probably null
R3840:Tnfrsf11b UTSW 15 54,115,478 (GRCm39) missense probably damaging 0.99
R3910:Tnfrsf11b UTSW 15 54,119,578 (GRCm39) splice site probably benign
R3911:Tnfrsf11b UTSW 15 54,119,578 (GRCm39) splice site probably benign
R3912:Tnfrsf11b UTSW 15 54,119,578 (GRCm39) splice site probably benign
R4299:Tnfrsf11b UTSW 15 54,115,491 (GRCm39) missense probably benign
R4362:Tnfrsf11b UTSW 15 54,119,555 (GRCm39) missense possibly damaging 0.94
R4363:Tnfrsf11b UTSW 15 54,119,555 (GRCm39) missense possibly damaging 0.94
R5288:Tnfrsf11b UTSW 15 54,141,622 (GRCm39) missense probably benign 0.00
R5653:Tnfrsf11b UTSW 15 54,123,262 (GRCm39) missense probably damaging 1.00
R5753:Tnfrsf11b UTSW 15 54,117,455 (GRCm39) missense possibly damaging 0.90
R6881:Tnfrsf11b UTSW 15 54,117,539 (GRCm39) missense probably benign 0.00
R6997:Tnfrsf11b UTSW 15 54,115,770 (GRCm39) missense probably damaging 0.99
R7704:Tnfrsf11b UTSW 15 54,123,497 (GRCm39) missense probably benign 0.30
R7730:Tnfrsf11b UTSW 15 54,117,470 (GRCm39) nonsense probably null
R8017:Tnfrsf11b UTSW 15 54,117,598 (GRCm39) nonsense probably null
R8052:Tnfrsf11b UTSW 15 54,115,502 (GRCm39) missense probably damaging 1.00
R8060:Tnfrsf11b UTSW 15 54,117,505 (GRCm39) missense probably benign 0.38
R8711:Tnfrsf11b UTSW 15 54,123,508 (GRCm39) missense possibly damaging 0.81
R9224:Tnfrsf11b UTSW 15 54,115,556 (GRCm39) missense possibly damaging 0.67
X0025:Tnfrsf11b UTSW 15 54,141,631 (GRCm39) missense probably benign 0.22
Posted On 2015-04-16