Mutagenetix > Incidental Mutation

Incidental Mutation 'R5653:Tnfrsf11b'

442131

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

043299-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R5653 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54114014-54141700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54123262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 113 (L113Q)

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 damaging
Transcript: ENSMUST00000079772
AA Change: L113Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078705
Gene: ENSMUSG00000063727
AA Change: L113Q

Domain	Start	End	E-Value	Type
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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	T	C	5: 36,040,756 (GRCm39)	L663P	probably damaging	Het
Atp10d	A	T	5: 72,421,410 (GRCm39)	Q682L	probably benign	Het
Atp8b1	A	G	18: 64,678,268 (GRCm39)	V876A	probably damaging	Het
Bard1	A	T	1: 71,070,588 (GRCm39)	V632E	probably benign	Het
Baz1b	A	T	5: 135,237,951 (GRCm39)	E209V	probably benign	Het
Bmp1	T	A	14: 70,727,534 (GRCm39)	Y683F	probably benign	Het
Cacnb1	A	T	11: 97,900,105 (GRCm39)		probably null	Het
Capza2	G	A	6: 17,654,112 (GRCm39)	A55T	probably damaging	Het
Cc2d2a	A	G	5: 43,879,804 (GRCm39)	N1127S	possibly damaging	Het
Ccdc13	A	G	9: 121,627,853 (GRCm39)	*255R	probably null	Het
Ddias	G	T	7: 92,507,937 (GRCm39)	N659K	probably damaging	Het
Ddr1	C	T	17: 35,997,400 (GRCm39)	A531T	probably benign	Het
Dnah9	T	C	11: 65,740,806 (GRCm39)	T4127A	probably damaging	Het
Dnajc10	T	A	2: 80,179,712 (GRCm39)	Y749N	probably damaging	Het
Dnm1l	A	G	16: 16,137,353 (GRCm39)	L422P	probably damaging	Het
Edil3	A	T	13: 89,279,931 (GRCm39)	N203I	probably damaging	Het
Egfr	C	T	11: 16,861,617 (GRCm39)	A1132V	probably benign	Het
Entpd7	C	T	19: 43,679,596 (GRCm39)	R50*	probably null	Het
Fat2	T	C	11: 55,201,142 (GRCm39)	D644G	probably damaging	Het
Fhip1a	A	T	3: 85,629,808 (GRCm39)	L40Q	probably damaging	Het
Galnt11	T	A	5: 25,453,856 (GRCm39)	D27E	probably damaging	Het
Gm10801	T	A	2: 98,494,396 (GRCm39)	F158I	probably damaging	Het
Gm37240	A	G	3: 84,405,102 (GRCm39)	F234L	probably damaging	Het
Gtf2ird1	A	T	5: 134,439,821 (GRCm39)	F136L	probably damaging	Het
Hspa1l	T	C	17: 35,196,396 (GRCm39)	V145A	probably damaging	Het
Ice2	A	G	9: 69,335,662 (GRCm39)	T882A	probably benign	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kat6b	A	G	14: 21,719,440 (GRCm39)	N1264S	probably benign	Het
Kcnq4	C	A	4: 120,559,608 (GRCm39)	V531L	probably benign	Het
Kif9	A	T	9: 110,353,999 (GRCm39)	K790N	probably damaging	Het
Lipe	T	A	7: 25,097,833 (GRCm39)	I37L	probably benign	Het
Lrrc43	A	G	5: 123,637,643 (GRCm39)	D270G	probably damaging	Het
Mon2	A	G	10: 122,861,999 (GRCm39)	Y782H	probably damaging	Het
Mrpl52	T	C	14: 54,664,686 (GRCm39)	S49P	probably damaging	Het
Or2ak5	G	A	11: 58,611,077 (GRCm39)	H266Y	probably damaging	Het
Or2h15	T	A	17: 38,442,075 (GRCm39)	T3S	possibly damaging	Het
Or5k14	A	G	16: 58,692,847 (GRCm39)	L222P	probably damaging	Het
Or5p56	A	T	7: 107,589,592 (GRCm39)	T7S	probably benign	Het
Pcbp2	C	T	15: 102,395,524 (GRCm39)	A141V	probably damaging	Het
Pcsk9	T	A	4: 106,316,113 (GRCm39)	Y110F	probably damaging	Het
Plxna4	A	G	6: 32,494,551 (GRCm39)	S22P	possibly damaging	Het
Polq	T	A	16: 36,860,896 (GRCm39)	L506Q	probably damaging	Het
Prkn	C	T	17: 11,456,536 (GRCm39)	A119V	probably damaging	Het
Prx	C	T	7: 27,217,029 (GRCm39)	P510L	probably damaging	Het
Ptpre	T	C	7: 135,255,672 (GRCm39)	F54L	probably damaging	Het
Rspry1	T	G	8: 95,363,239 (GRCm39)		probably null	Het
Tnk1	C	T	11: 69,744,411 (GRCm39)	G411S	probably damaging	Het
Tor3a	A	G	1: 156,484,080 (GRCm39)	L290S	probably damaging	Het
Tril	T	C	6: 53,794,970 (GRCm39)	T751A	probably benign	Het
Tubgcp6	C	T	15: 88,992,815 (GRCm39)	V547I	possibly damaging	Het
Txnrd3	T	C	6: 89,631,067 (GRCm39)	L121P	probably benign	Het
Vmn1r210	T	A	13: 23,011,378 (GRCm39)	R303*	probably null	Het
Vmn2r38	T	C	7: 9,100,764 (GRCm39)	M1V	probably null	Het

Other mutations in Tnfrsf11b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- TTGGAGAAAGGTCCTTTGGAAAC -3'
(R):5'- GTGACAAATGTGCTCCTGGC -3'

Sequencing Primer
(F):5'- GACACATAGCACACAGATAACAGG -3'
(R):5'- TCCTGGCACCTACCTAAAACAG -3'

Posted On

2016-11-09