Incidental Mutation 'IGL02711:Tnfrsf11b'
ID304570
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfrsf11b
Ensembl Gene ENSMUSG00000063727
Gene Nametumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)
SynonymsOpg, OCIF, OPG, TR1, osteoclastogenesis inhibitory factor
Accession Numbers

NCBI RefSeq: NM_008764.3; MGI:109587

Is this an essential gene? Possibly non essential (E-score: 0.387) question?
Stock #IGL02711
Quality Score
Status
Chromosome15
Chromosomal Location54250619-54278484 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 54256136 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 147 (D147E)
Ref Sequence ENSEMBL: ENSMUSP00000078705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079772]
PDB Structure
Crystal structure of mouse RANKL-OPG complex [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000079772
AA Change: D147E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000078705
Gene: ENSMUSG00000063727
AA Change: D147E

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 Strain: 2181227
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,723,245 probably null Het
Adamts10 T A 17: 33,538,272 M400K probably damaging Het
Adamts17 G A 7: 67,052,040 probably benign Het
Adh5 A G 3: 138,454,673 K323E probably damaging Het
Angptl2 T C 2: 33,228,243 W10R probably benign Het
Arhgap15 T C 2: 44,116,662 F264L possibly damaging Het
Atp6v1g3 T A 1: 138,283,681 L33Q probably damaging Het
Baz2b A T 2: 59,917,505 probably benign Het
BC027072 T C 17: 71,749,382 D1100G probably benign Het
Capn11 A G 17: 45,632,415 F611S probably damaging Het
Cep152 T A 2: 125,563,942 T1557S possibly damaging Het
Cep76 A T 18: 67,638,336 S75R probably benign Het
Cps1 A G 1: 67,212,517 probably benign Het
Dbf4 G T 5: 8,408,235 A199E probably benign Het
Gldc C T 19: 30,145,146 probably null Het
Hspa14 G A 2: 3,502,520 A117V probably benign Het
Igkv4-80 G A 6: 69,016,817 P30L probably damaging Het
Itga2b A T 11: 102,465,725 W292R possibly damaging Het
Kansl1 A T 11: 104,335,575 S982T probably damaging Het
Klhdc7b A T 15: 89,388,043 K1043* probably null Het
Kmt2a A T 9: 44,824,523 probably benign Het
Krt86 T C 15: 101,473,662 Y38H probably damaging Het
Lingo4 T C 3: 94,403,393 I546T probably benign Het
Lrrk1 A G 7: 66,330,767 S222P probably damaging Het
Lrrk2 T C 15: 91,685,822 V178A possibly damaging Het
Maml2 T C 9: 13,620,063 V191A probably benign Het
Msh3 T C 13: 92,351,311 T133A probably damaging Het
Nck1 T C 9: 100,508,620 D12G probably damaging Het
Nox4 T C 7: 87,396,868 Y572H probably damaging Het
Nqo1 A T 8: 107,392,931 L30Q probably damaging Het
Olfr994 A T 2: 85,430,739 V30E probably damaging Het
Oxr1 A G 15: 41,653,671 probably benign Het
Pcdhb10 A C 18: 37,412,726 D285A possibly damaging Het
Pclo A G 5: 14,522,308 N569S unknown Het
Ppfibp1 T A 6: 147,026,238 Y794* probably null Het
Ripor3 T G 2: 168,006,280 probably benign Het
Rpe65 C A 3: 159,622,877 H441N possibly damaging Het
St14 A G 9: 31,089,900 V845A probably benign Het
Tmem116 T A 5: 121,487,741 probably benign Het
Ttn C A 2: 76,730,122 G27566* probably null Het
Zscan18 G T 7: 12,775,117 probably benign Het
Other mutations in Tnfrsf11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Tnfrsf11b APN 15 54259842 missense probably damaging 1.00
IGL00770:Tnfrsf11b APN 15 54254072 missense probably benign 0.16
IGL00774:Tnfrsf11b APN 15 54254072 missense probably benign 0.16
IGL02355:Tnfrsf11b APN 15 54252382 missense probably damaging 0.96
IGL02362:Tnfrsf11b APN 15 54252382 missense probably damaging 0.96
IGL02870:Tnfrsf11b APN 15 54256027 missense probably benign 0.05
IGL03219:Tnfrsf11b APN 15 54254178 nonsense probably null
P0012:Tnfrsf11b UTSW 15 54259798 splice site probably benign
R1550:Tnfrsf11b UTSW 15 54254058 missense possibly damaging 0.94
R1813:Tnfrsf11b UTSW 15 54256097 nonsense probably null
R3840:Tnfrsf11b UTSW 15 54252082 missense probably damaging 0.99
R3910:Tnfrsf11b UTSW 15 54256182 splice site probably benign
R3911:Tnfrsf11b UTSW 15 54256182 splice site probably benign
R3912:Tnfrsf11b UTSW 15 54256182 splice site probably benign
R4299:Tnfrsf11b UTSW 15 54252095 missense probably benign
R4362:Tnfrsf11b UTSW 15 54256159 missense possibly damaging 0.94
R4363:Tnfrsf11b UTSW 15 54256159 missense possibly damaging 0.94
R5288:Tnfrsf11b UTSW 15 54278226 missense probably benign 0.00
R5653:Tnfrsf11b UTSW 15 54259866 missense probably damaging 1.00
R5753:Tnfrsf11b UTSW 15 54254059 missense possibly damaging 0.90
R6881:Tnfrsf11b UTSW 15 54254143 missense probably benign 0.00
R6997:Tnfrsf11b UTSW 15 54252374 missense probably damaging 0.99
R7704:Tnfrsf11b UTSW 15 54260101 missense probably benign 0.30
R7730:Tnfrsf11b UTSW 15 54254074 nonsense probably null
R8052:Tnfrsf11b UTSW 15 54252106 missense probably damaging 1.00
R8060:Tnfrsf11b UTSW 15 54254109 missense probably benign 0.38
X0025:Tnfrsf11b UTSW 15 54278235 missense probably benign 0.22
Posted On2015-04-16