Mutagenetix > Incidental Mutation

Incidental Mutation 'R4299:Tnfrsf11b'

323510

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

041087-MU

Accession Numbers

Essential gene?

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

Stock #

R4299 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54114014-54141700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54115491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 369 (M369V)

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: M369V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078705
Gene: ENSMUSG00000063727
AA Change: M369V

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (76/78)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 87,258,154 (GRCm39)		probably null	Het
Akna	A	T	4: 63,316,269 (GRCm39)	D31E	possibly damaging	Het
Apbb2	A	T	5: 66,470,721 (GRCm39)	H528Q	probably damaging	Het
Atp6v1g3	C	A	1: 138,211,462 (GRCm39)	Y47*	probably null	Het
AW551984	T	C	9: 39,504,275 (GRCm39)	T564A	probably benign	Het
C4b	T	C	17: 34,950,118 (GRCm39)	D1384G	possibly damaging	Het
Cbfa2t2	G	A	2: 154,365,848 (GRCm39)	V353I	probably damaging	Het
Ccdc121	A	G	5: 31,644,870 (GRCm39)	R208G	possibly damaging	Het
Cdh20	T	C	1: 109,988,731 (GRCm39)	I211T	probably damaging	Het
Cep170b	T	C	12: 112,705,739 (GRCm39)	S1166P	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Crygs	G	A	16: 22,624,161 (GRCm39)	Q149*	probably null	Het
Cyp2c70	T	C	19: 40,172,372 (GRCm39)	Q90R	probably benign	Het
Cyp3a41b	T	C	5: 145,510,487 (GRCm39)	Y129C	possibly damaging	Het
Dnah10	A	G	5: 124,896,989 (GRCm39)	T3645A	probably damaging	Het
Dnai3	C	T	3: 145,774,561 (GRCm39)	D429N	probably damaging	Het
Dolk	A	T	2: 30,175,200 (GRCm39)	W282R	probably damaging	Het
Dsg2	T	A	18: 20,729,008 (GRCm39)		probably null	Het
Dysf	A	G	6: 84,045,059 (GRCm39)	T297A	possibly damaging	Het
Flt1	G	T	5: 147,620,717 (GRCm39)	D142E	probably benign	Het
Frmd4a	C	A	2: 4,337,882 (GRCm39)	N29K	probably benign	Het
Fxyd7	A	T	7: 30,744,407 (GRCm39)	M36K	probably benign	Het
Gabbr1	C	T	17: 37,366,792 (GRCm39)	R178*	probably null	Het
Gnal	C	G	18: 67,221,654 (GRCm39)	P19R	unknown	Het
Gprc5b	G	A	7: 118,583,437 (GRCm39)	A144V	possibly damaging	Het
Il1rapl1	A	T	X: 86,344,313 (GRCm39)	I194N	probably damaging	Het
Kics2	C	A	10: 121,581,351 (GRCm39)	H117Q	probably benign	Het
Klhl24	T	C	16: 19,925,754 (GRCm39)	M94T	probably damaging	Het
Kmt2e	T	A	5: 23,669,912 (GRCm39)	I133N	probably damaging	Het
Macf1	A	G	4: 123,293,199 (GRCm39)	I5381T	probably damaging	Het
Madd	A	G	2: 91,000,148 (GRCm39)	L197P	probably damaging	Het
Mapkapk3	G	A	9: 107,134,648 (GRCm39)	T296M	probably damaging	Het
Micall2	T	C	5: 139,695,226 (GRCm39)		probably benign	Het
Myh9	T	C	15: 77,654,164 (GRCm39)	T1214A	probably benign	Het
Ncapd3	A	G	9: 26,963,623 (GRCm39)	N492S	probably benign	Het
Neurl4	A	C	11: 69,799,887 (GRCm39)	D1055A	probably damaging	Het
Nrbp1	T	C	5: 31,407,943 (GRCm39)		probably null	Het
Or13a20	T	C	7: 140,232,156 (GRCm39)	V88A	probably benign	Het
Or1e21	A	T	11: 73,344,827 (GRCm39)	D70E	probably damaging	Het
Or52z1	T	A	7: 103,437,202 (GRCm39)	H94L	probably benign	Het
Or5j3	A	T	2: 86,128,585 (GRCm39)	I142F	possibly damaging	Het
Or6k8-ps1	T	A	1: 173,979,878 (GRCm39)	Y265*	probably null	Het
Or8b42	T	G	9: 38,342,108 (GRCm39)	Y177D	probably damaging	Het
Or8d1b	T	A	9: 38,887,055 (GRCm39)	F28I	probably damaging	Het
Or8g19	T	C	9: 39,056,295 (GRCm39)	S300P	probably benign	Het
Patj	C	A	4: 98,565,558 (GRCm39)	N1090K	possibly damaging	Het
Pde8a	A	G	7: 80,977,783 (GRCm39)	D692G	probably benign	Het
Ppa2	G	T	3: 133,073,603 (GRCm39)	K220N	probably damaging	Het
Pramel32	T	C	4: 88,546,419 (GRCm39)	K137E	probably damaging	Het
Ptgr3	A	T	18: 84,112,626 (GRCm39)	I101F	possibly damaging	Het
Rad54b	A	G	4: 11,597,865 (GRCm39)	H250R	probably damaging	Het
Reln	A	C	5: 22,125,485 (GRCm39)	C2733G	probably damaging	Het
Rgs14	A	G	13: 55,531,566 (GRCm39)	T497A	probably damaging	Het
Rpl13-ps3	T	A	14: 59,130,972 (GRCm39)		noncoding transcript	Het
Scn11a	T	G	9: 119,594,572 (GRCm39)	I1274L	probably damaging	Het
Sco1	A	T	11: 66,946,626 (GRCm39)	H133L	possibly damaging	Het
Slc4a8	T	C	15: 100,694,521 (GRCm39)		probably null	Het
Smc2	C	T	4: 52,440,238 (GRCm39)		probably benign	Het
Spata18	T	C	5: 73,824,245 (GRCm39)	I156T	probably benign	Het
St3gal2	T	C	8: 111,688,991 (GRCm39)	M177T	probably benign	Het
Stt3a	A	G	9: 36,674,640 (GRCm39)	F48L	probably damaging	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Szt2	A	G	4: 118,222,603 (GRCm39)		probably benign	Het
Telo2	A	T	17: 25,334,230 (GRCm39)	S6T	possibly damaging	Het
Tnfrsf13b	C	G	11: 61,031,643 (GRCm39)		probably null	Het
Vmn1r234	A	T	17: 21,449,283 (GRCm39)	M66L	probably benign	Het
Vmn2r12	C	A	5: 109,239,830 (GRCm39)	M244I	probably benign	Het
Wdfy2	T	A	14: 63,162,589 (GRCm39)	L97*	probably null	Het
Xrcc5	T	C	1: 72,433,879 (GRCm39)	*733Q	probably null	Het
Zfp1004	G	A	2: 150,032,653 (GRCm39)	D17N	probably damaging	Het
Zfp516	G	A	18: 83,005,622 (GRCm39)	G842D	possibly damaging	Het
Zwilch	A	G	9: 64,062,444 (GRCm39)		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
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'- AGAAACAGTCTTCTTCTCCTCAG -3'
(R):5'- CAGAGCAGCTTCTTGCCTTG -3'

Sequencing Primer
(F):5'- CAGTCAGTTTTGGCCCATCTTGAAG -3'
(R):5'- CTTGCCTTGATGGAGAGCC -3'

Posted On

2015-06-20