Incidental Mutation 'R6881:Tnfrsf11b'
ID 536684
Institutional Source Beutler Lab
Gene Symbol Tnfrsf11b
Ensembl Gene ENSMUSG00000063727
Gene Name tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)
Synonyms OPG, OCIF, TR1, osteoclastogenesis inhibitory factor, Opg
MMRRC Submission 045030-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R6881 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 54114014-54141700 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54117539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 239 (R239G)
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: R239G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000078705
Gene: ENSMUSG00000063727
AA Change: R239G

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 98% (53/54)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik A C 9: 15,202,061 (GRCm39) C187G possibly damaging Het
Abhd16a C T 17: 35,315,577 (GRCm39) T208I probably benign Het
Ahcyl1 A T 3: 107,575,425 (GRCm39) H425Q probably damaging Het
Ankrd22 T A 19: 34,126,782 (GRCm39) N16I probably damaging Het
Cc2d2b A G 19: 40,813,483 (GRCm39) E1321G probably damaging Het
Ccdc7b A G 8: 129,799,028 (GRCm39) E35G probably damaging Het
Chsy3 A G 18: 59,312,480 (GRCm39) I318V probably damaging Het
Clrn2 G A 5: 45,611,164 (GRCm39) W4* probably null Het
Cmip T C 8: 118,163,334 (GRCm39) I355T possibly damaging Het
Cmya5 C T 13: 93,226,800 (GRCm39) V2763M probably damaging Het
Cnnm2 T C 19: 46,865,658 (GRCm39) S749P probably damaging Het
Cyp1a1 G T 9: 57,608,002 (GRCm39) R210L possibly damaging Het
Dmxl1 G A 18: 50,068,372 (GRCm39) S2715N probably benign Het
Dync1h1 T C 12: 110,590,995 (GRCm39) L1021P probably damaging Het
Ecm2 C T 13: 49,683,818 (GRCm39) Q599* probably null Het
Galnt11 G T 5: 25,455,097 (GRCm39) K144N possibly damaging Het
Gm45861 A G 8: 28,025,279 (GRCm39) probably null Het
Kcnk18 T A 19: 59,208,390 (GRCm39) D75E probably benign Het
Kcnk2 C T 1: 188,942,187 (GRCm39) V346M probably benign Het
Klhl33 T A 14: 51,128,929 (GRCm39) M767L probably benign Het
Knl1 T C 2: 118,925,665 (GRCm39) I1898T possibly damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lamp3 T C 16: 19,518,368 (GRCm39) T290A probably benign Het
Larp1 T A 11: 57,940,849 (GRCm39) D658E probably damaging Het
Macf1 T A 4: 123,326,246 (GRCm39) I3521F probably damaging Het
Med12l T C 3: 59,174,586 (GRCm39) S1835P probably benign Het
Mef2c C A 13: 83,741,061 (GRCm39) N73K probably damaging Het
Mtmr3 T C 11: 4,439,725 (GRCm39) S572G probably benign Het
Neto2 A T 8: 86,367,185 (GRCm39) S520T probably damaging Het
Or10ak16 A G 4: 118,750,304 (GRCm39) N8S probably damaging Het
Or1o4 A G 17: 37,591,200 (GRCm39) L37S probably benign Het
Or4c110 A T 2: 88,832,281 (GRCm39) M117K probably damaging Het
P3h2 G A 16: 25,811,495 (GRCm39) R243C probably damaging Het
Pld1 T C 3: 28,132,563 (GRCm39) S584P possibly damaging Het
Prkcz T C 4: 155,353,513 (GRCm39) N278S possibly damaging Het
Radil A G 5: 142,472,672 (GRCm39) S913P probably benign Het
Retreg2 A C 1: 75,123,083 (GRCm39) Q337P probably damaging Het
Sh3gl3 A G 7: 81,956,178 (GRCm39) E305G possibly damaging Het
Shank1 G T 7: 44,001,217 (GRCm39) D979Y unknown Het
Slc35a5 A T 16: 44,964,443 (GRCm39) N263K possibly damaging Het
Slc4a7 A T 14: 14,737,452 (GRCm38) M127L probably benign Het
Slc8a2 G A 7: 15,891,282 (GRCm39) G774E probably damaging Het
Smim45 C A 15: 82,143,786 (GRCm39) H3N possibly damaging Het
Snap91 A G 9: 86,655,646 (GRCm39) S847P possibly damaging Het
Stoml1 T C 9: 58,168,177 (GRCm39) L296P probably damaging Het
Tap1 G T 17: 34,407,008 (GRCm39) G52V probably damaging Het
Tent4b T C 8: 88,977,416 (GRCm39) V363A possibly damaging Het
Ttn T C 2: 76,536,846 (GRCm39) Y34993C probably damaging Het
Uchl1 T C 5: 66,841,065 (GRCm39) F165L probably damaging Het
Xrcc1 C T 7: 24,246,776 (GRCm39) Q15* probably null Het
Zkscan7 C G 9: 122,717,766 (GRCm39) Q54E possibly damaging Het
Other mutations in Tnfrsf11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Tnfrsf11b APN 15 54,123,238 (GRCm39) missense probably damaging 1.00
IGL00770:Tnfrsf11b APN 15 54,117,468 (GRCm39) missense probably benign 0.16
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
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
Predicted Primers PCR Primer
(F):5'- ACCATGACAATTGCAGGAGG -3'
(R):5'- ATGGTGTCTCGCAGAAAACTC -3'

Sequencing Primer
(F):5'- CGGCCCTACTACATAGACAATAG -3'
(R):5'- ATTTTTGTTGGAAGGACTGCAGAAAG -3'
Posted On 2018-10-18