Mutagenetix > Incidental Mutation

Incidental Mutation 'R1550:Tnfrsf11b'

169872

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

039589-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R1550 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54114014-54141700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54117454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 267 (V267A)

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

possibly damaging
Transcript: ENSMUST00000079772
AA Change: V267A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078705
Gene: ENSMUSG00000063727
AA Change: V267A

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: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.2%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,654,668 (GRCm39)	V551A	probably benign	Het
Acss1	A	T	2: 150,484,715 (GRCm39)	L176Q	probably damaging	Het
Aldh7a1	A	G	18: 56,683,454 (GRCm39)	I117T	possibly damaging	Het
Arf5	C	T	6: 28,426,152 (GRCm39)	R180C	probably damaging	Het
Arhgap21	A	T	2: 20,886,576 (GRCm39)	Y39*	probably null	Het
Arrdc1	A	G	2: 24,816,351 (GRCm39)	L206P	probably damaging	Het
Cby3	A	T	11: 50,250,313 (GRCm39)	Y173F	probably damaging	Het
Cdh18	T	A	15: 23,436,634 (GRCm39)	C497S	probably damaging	Het
Cyp11b2	T	C	15: 74,725,442 (GRCm39)	I226V	probably benign	Het
Ddit4l	T	A	3: 137,330,036 (GRCm39)		probably null	Het
Ddx11	C	T	17: 66,445,215 (GRCm39)	T405I	probably benign	Het
Dhx40	A	T	11: 86,667,565 (GRCm39)		probably null	Het
Dlgap2	A	G	8: 14,872,499 (GRCm39)	D659G	probably damaging	Het
Eef2	A	G	10: 81,016,681 (GRCm39)	E586G	probably benign	Het
Fam161a	A	G	11: 22,970,470 (GRCm39)	Q216R	possibly damaging	Het
Fbxw24	G	T	9: 109,436,112 (GRCm39)	R307S	probably benign	Het
Gbp2b	G	T	3: 142,312,591 (GRCm39)	A325S	probably damaging	Het
Gli1	A	T	10: 127,174,385 (GRCm39)	F2Y	probably damaging	Het
Gnl2	T	C	4: 124,938,027 (GRCm39)	V269A	probably damaging	Het
Grin1	A	G	2: 25,195,143 (GRCm39)	V292A	probably benign	Het
Heg1	T	A	16: 33,555,923 (GRCm39)	V1001E	probably damaging	Het
Herc2	T	A	7: 55,785,406 (GRCm39)	I1552N	probably damaging	Het
Htr1a	A	G	13: 105,581,788 (GRCm39)	T343A	probably benign	Het
Itk	G	T	11: 46,280,153 (GRCm39)	R29S	probably damaging	Het
Ivns1abp	G	T	1: 151,237,242 (GRCm39)	G469C	probably damaging	Het
Jph3	A	T	8: 122,511,598 (GRCm39)	N529Y	possibly damaging	Het
Kdm2b	A	G	5: 123,019,120 (GRCm39)	L829P	probably damaging	Het
Kprp	T	A	3: 92,732,033 (GRCm39)	Y339F	probably damaging	Het
Lrp2	A	G	2: 69,333,005 (GRCm39)	V1504A	possibly damaging	Het
Lypd6b	A	G	2: 49,833,615 (GRCm39)	D85G	probably damaging	Het
Mansc4	T	C	6: 146,977,136 (GRCm39)	Y160C	probably damaging	Het
Mgll	C	A	6: 88,790,871 (GRCm39)	H164N	probably benign	Het
Mtmr4	A	T	11: 87,504,342 (GRCm39)	D1097V	probably damaging	Het
Nfasc	T	C	1: 132,536,241 (GRCm39)	K571E	probably damaging	Het
Nfat5	A	T	8: 108,097,205 (GRCm39)	N1527Y	probably damaging	Het
Nlgn1	A	G	3: 25,966,808 (GRCm39)	L215P	probably damaging	Het
Or6b9	T	A	7: 106,555,235 (GRCm39)	I303L	probably benign	Het
Pde4dip	T	C	3: 97,627,020 (GRCm39)	S1173G	probably damaging	Het
Prrt3	A	T	6: 113,472,468 (GRCm39)	V568E	probably damaging	Het
Ptpra	G	A	2: 130,383,313 (GRCm39)	R503Q	possibly damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rnf7l	A	G	10: 63,257,427 (GRCm39)	L31P	probably damaging	Het
Sema5a	G	A	15: 32,618,995 (GRCm39)	A508T	probably benign	Het
Serpinb11	T	C	1: 107,307,418 (GRCm39)	I283T	possibly damaging	Het
Setbp1	A	T	18: 78,901,807 (GRCm39)	L620Q	probably damaging	Het
Sipa1l3	A	T	7: 29,082,628 (GRCm39)	C756S	probably benign	Het
Sirpa	A	T	2: 129,471,961 (GRCm39)	I463F	probably damaging	Het
Slc13a2	G	T	11: 78,293,990 (GRCm39)	N257K	probably damaging	Het
Slc4a5	C	A	6: 83,248,039 (GRCm39)	T530N	probably damaging	Het
Stab2	A	T	10: 86,714,790 (GRCm39)	F125L	probably benign	Het
Tet2	G	T	3: 133,175,280 (GRCm39)	Q1356K	probably benign	Het
Tet3	A	T	6: 83,363,010 (GRCm39)	S856T	probably damaging	Het
Tg	C	T	15: 66,565,279 (GRCm39)	T1207I	possibly damaging	Het
Tkt	A	G	14: 30,287,525 (GRCm39)	Y173C	probably damaging	Het
Tlr6	T	A	5: 65,110,754 (GRCm39)	I718F	probably damaging	Het
Ubqln3	T	A	7: 103,790,753 (GRCm39)	N446Y	probably damaging	Het
Vmn2r118	C	T	17: 55,915,083 (GRCm39)	C521Y	probably damaging	Het
Vps16	A	G	2: 130,282,260 (GRCm39)	D394G	probably benign	Het
Zfp236	A	T	18: 82,692,549 (GRCm39)	M142K	possibly damaging	Het
Zfp780b	T	C	7: 27,664,282 (GRCm39)	D91G	probably benign	Het
Zfp97	T	A	17: 17,365,468 (GRCm39)	Y322*	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
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

Predicted Primers

PCR Primer
(F):5'- GCCAGTACCATGACAATTGCAGGAG -3'
(R):5'- GGTGTCTCGCAGAAAACTCAACCC -3'

Sequencing Primer
(F):5'- GGAGGAAAACACCGGCCC -3'
(R):5'- CTACAGATGTCACCCTGTGTGAAG -3'

Posted On

2014-04-13