Mutagenetix > Incidental Mutation

Incidental Mutation 'R3912:Tnfrsf11b'

309481

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

040910-MU

Accession Numbers

Essential gene?

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

Stock #

R3912 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54114014-54141700 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 54119578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000078705
Gene: ENSMUSG00000063727

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (56/56)

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
Acot1	A	G	12: 84,063,806 (GRCm39)	S305G	probably damaging	Het
Acot12	A	G	13: 91,918,208 (GRCm39)	D167G	probably benign	Het
Adgra1	T	C	7: 139,425,630 (GRCm39)		probably null	Het
Adh7	T	A	3: 137,927,541 (GRCm39)	V29E	probably damaging	Het
Aopep	G	T	13: 63,304,520 (GRCm39)	E402*	probably null	Het
Atp2c2	A	G	8: 120,448,015 (GRCm39)	K103E	probably damaging	Het
Camkk1	A	G	11: 72,924,642 (GRCm39)	D285G	probably benign	Het
Ccdc158	G	C	5: 92,796,794 (GRCm39)	T514S	possibly damaging	Het
Cdhr5	T	A	7: 140,853,770 (GRCm39)	D210V	probably damaging	Het
Cndp1	C	T	18: 84,650,124 (GRCm39)	D190N	probably benign	Het
Eepd1	C	T	9: 25,394,600 (GRCm39)	T288M	probably damaging	Het
Erbin	G	T	13: 103,998,795 (GRCm39)	T197K	probably benign	Het
Erbin	G	A	13: 104,022,846 (GRCm39)		probably benign	Het
Fnip2	A	T	3: 79,386,812 (GRCm39)	D971E	possibly damaging	Het
Gab2	A	G	7: 96,948,280 (GRCm39)	Y290C	probably damaging	Het
Gbp3	C	T	3: 142,272,099 (GRCm39)		probably benign	Het
Gm14326	T	C	2: 177,587,658 (GRCm39)	K446R	probably damaging	Het
Herc2	T	C	7: 55,748,185 (GRCm39)	Y518H	probably damaging	Het
Id2	T	A	12: 25,145,871 (GRCm39)	K47*	probably null	Het
Ilf2	A	G	3: 90,394,367 (GRCm39)	N295S	probably benign	Het
Ilf3	C	T	9: 21,309,422 (GRCm39)	A526V	possibly damaging	Het
Ints10	T	A	8: 69,266,272 (GRCm39)	S478T	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc7	G	A	3: 157,997,589 (GRCm39)	L158F	probably damaging	Het
Mroh9	C	T	1: 162,893,638 (GRCm39)	C179Y	probably damaging	Het
Mrps18b	C	T	17: 36,221,831 (GRCm39)	V165I	probably benign	Het
Myrip	A	G	9: 120,261,682 (GRCm39)	S432G	probably benign	Het
Nutm2	C	T	13: 50,626,976 (GRCm39)	A377V	possibly damaging	Het
Or2ag18	A	T	7: 106,405,072 (GRCm39)	V199D	probably damaging	Het
Pate4	C	A	9: 35,523,140 (GRCm39)	M1I	probably null	Het
Pax7	C	A	4: 139,508,209 (GRCm39)	W272L	probably benign	Het
Ppp1r12b	C	T	1: 134,815,056 (GRCm39)	E320K	probably damaging	Het
Prg4	T	C	1: 150,327,619 (GRCm39)	Y278C	probably damaging	Het
Pvr	T	C	7: 19,643,217 (GRCm39)	N339D	probably benign	Het
Rev3l	A	G	10: 39,696,552 (GRCm39)	I521M	probably damaging	Het
Ryr2	A	G	13: 11,787,313 (GRCm39)	I1020T	probably damaging	Het
Scn4a	T	A	11: 106,211,542 (GRCm39)	I1492F	probably damaging	Het
Sec16a	C	T	2: 26,304,399 (GRCm39)	G2304D	probably damaging	Het
Shisa7	T	A	7: 4,833,239 (GRCm39)	R341*	probably null	Het
Slc19a3	T	A	1: 83,000,424 (GRCm39)	M198L	probably benign	Het
Slc26a8	T	A	17: 28,863,753 (GRCm39)	N669Y	possibly damaging	Het
Slco1a7	A	G	6: 141,673,362 (GRCm39)	F392S	probably damaging	Het
Snap91	T	C	9: 86,674,610 (GRCm39)	T534A	possibly damaging	Het
Susd4	A	T	1: 182,715,031 (GRCm39)	Y284F	probably damaging	Het
Tas1r1	A	T	4: 152,116,381 (GRCm39)	Y418N	probably damaging	Het
Tdrd12	A	G	7: 35,187,138 (GRCm39)	I584T	probably damaging	Het
Tmtc3	A	C	10: 100,284,888 (GRCm39)	N582K	probably damaging	Het
Trim30a	A	G	7: 104,060,348 (GRCm39)	V476A	probably damaging	Het
Vmn1r39	C	T	6: 66,782,125 (GRCm39)	M27I	probably benign	Het
Vmn2r59	T	C	7: 41,695,744 (GRCm39)	T223A	probably benign	Het
Vps35l	A	G	7: 118,345,613 (GRCm39)	T49A	possibly damaging	Het
Vwa5a	T	C	9: 38,646,039 (GRCm39)	I469T	probably damaging	Het
Wnt3a	A	C	11: 59,140,828 (GRCm39)	D229E	possibly damaging	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
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'- TCTCTGTTTCCGGAACACAC -3'
(R):5'- GCGCAACAAACTTGTGTGGG -3'

Sequencing Primer
(F):5'- TCCGGAACACACGTTGTCATG -3'
(R):5'- CGCAACAAACTTGTGTGGGTATTAC -3'

Posted On

2015-04-17