Mutagenetix > Incidental Mutation

Incidental Mutation 'R8711:Tnfrsf11b'

669604

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

068565-MU

Accession Numbers

Essential gene?

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

Stock #

R8711 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54114014-54141700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54123508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 31 (Y31F)

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: Y31F

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078705
Gene: ENSMUSG00000063727
AA Change: Y31F

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	A	8: 60,969,120 (GRCm39)	S122T	probably benign	Het
Abcb11	G	A	2: 69,095,856 (GRCm39)	T828I	probably damaging	Het
Atp5f1b	T	A	10: 127,921,369 (GRCm39)	N222K	probably damaging	Het
C1qbp	T	C	11: 70,869,313 (GRCm39)	T211A	probably benign	Het
Ccdc85a	A	T	11: 28,384,146 (GRCm39)	S410T	possibly damaging	Het
Chd4	T	A	6: 125,100,485 (GRCm39)		probably benign	Het
Col10a1	G	T	10: 34,270,824 (GRCm39)	K265N	probably damaging	Het
Cyp2j5	A	T	4: 96,529,660 (GRCm39)	M237K	possibly damaging	Het
Cyp4f40	T	C	17: 32,894,962 (GRCm39)		probably benign	Het
Cytip	A	T	2: 58,041,135 (GRCm39)	F90L	probably damaging	Het
Dnah7b	A	G	1: 46,214,598 (GRCm39)	D1121G	probably damaging	Het
Dohh	G	T	10: 81,221,859 (GRCm39)	E84D	probably benign	Het
Efcab3	A	G	11: 104,743,371 (GRCm39)	I2187V	probably benign	Het
Eif1ad19	T	A	12: 87,740,130 (GRCm39)	D143V	unknown	Het
Eif4g2	T	C	7: 110,673,127 (GRCm39)	Y855C	probably damaging	Het
Ell	T	A	8: 71,034,331 (GRCm39)		probably benign	Het
Ermap	T	C	4: 119,044,355 (GRCm39)	Y147C	probably damaging	Het
Fasn	T	C	11: 120,709,944 (GRCm39)	D371G	possibly damaging	Het
Fat2	A	G	11: 55,159,129 (GRCm39)	S3348P	probably benign	Het
Fhad1	T	A	4: 141,684,924 (GRCm39)	N472Y	probably benign	Het
Flad1	A	G	3: 89,316,415 (GRCm39)	V49A	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,554 (GRCm39)	T196A	probably benign	Het
Fsip2	A	G	2: 82,815,246 (GRCm39)	N3660D	possibly damaging	Het
Gabrp	T	A	11: 33,505,023 (GRCm39)	L259F	probably damaging	Het
Gm16686	A	T	4: 88,673,473 (GRCm39)	W119R	unknown	Het
Gng2	C	T	14: 19,941,438 (GRCm39)	M1I	probably null	Het
Hmgxb3	T	C	18: 61,290,721 (GRCm39)	N384S	probably benign	Het
Ibtk	T	C	9: 85,606,208 (GRCm39)	I440V	probably benign	Het
Il11ra1	A	G	4: 41,767,539 (GRCm39)	D297G	probably damaging	Het
Irf2bpl	T	C	12: 86,928,496 (GRCm39)	I726V	probably benign	Het
Klk1b5	A	G	7: 43,867,996 (GRCm39)	N56S	probably benign	Het
Laptm4b	T	A	15: 34,277,648 (GRCm39)	V193E	probably damaging	Het
Lrrc37a	A	T	11: 103,388,350 (GRCm39)	C2358*	probably null	Het
Ltbp2	C	T	12: 84,900,515 (GRCm39)	S269N	probably benign	Het
Morc2a	T	G	11: 3,630,013 (GRCm39)	Y450D	probably damaging	Het
Mycbp2	A	T	14: 103,407,430 (GRCm39)	I2740K	probably benign	Het
Naif1	T	A	2: 32,344,848 (GRCm39)	V184E	probably damaging	Het
Neurl1b	T	C	17: 26,660,747 (GRCm39)	V540A	probably damaging	Het
Nt5c1b	T	A	12: 10,431,450 (GRCm39)	F451Y	probably damaging	Het
Obox3	A	G	7: 15,360,148 (GRCm39)	S174P	probably benign	Het
Obscn	T	C	11: 58,951,894 (GRCm39)	E3953G	probably damaging	Het
Or4a74	A	C	2: 89,440,291 (GRCm39)	S52A	probably benign	Het
Or4p19	A	T	2: 88,242,595 (GRCm39)	C136S	probably damaging	Het
Pkd1l1	G	A	11: 8,815,550 (GRCm39)	H1904Y		Het
Plec	C	T	15: 76,059,531 (GRCm39)	D3469N	probably benign	Het
Polr1b	A	G	2: 128,943,064 (GRCm39)	T20A	probably damaging	Het
Ppp1r16b	G	A	2: 158,603,286 (GRCm39)	E404K	possibly damaging	Het
Prkce	T	A	17: 86,795,625 (GRCm39)	N287K	probably damaging	Het
Rchy1	C	A	5: 92,105,397 (GRCm39)	C108F	probably damaging	Het
Scpppq1	G	A	5: 104,219,956 (GRCm39)	T78I	unknown	Het
Sema6d	A	G	2: 124,502,232 (GRCm39)	Y572C	possibly damaging	Het
Sh3rf1	T	A	8: 61,783,030 (GRCm39)	I248K	probably damaging	Het
Sin3b	T	C	8: 73,450,026 (GRCm39)	L30P	probably damaging	Het
Slc25a47	G	A	12: 108,820,313 (GRCm39)	G106S	probably damaging	Het
Slc43a2	A	C	11: 75,457,879 (GRCm39)	M385L	probably benign	Het
Slc43a3	A	G	2: 84,768,671 (GRCm39)	T97A	probably damaging	Het
Slc9b2	T	A	3: 135,030,351 (GRCm39)	S223T	probably benign	Het
Smc5	A	T	19: 23,243,058 (GRCm39)	C118S	probably damaging	Het
Smpdl3b	T	C	4: 132,472,491 (GRCm39)	D94G	probably damaging	Het
Spred3	A	G	7: 28,866,086 (GRCm39)	V71A	possibly damaging	Het
Srsf5	T	A	12: 80,994,328 (GRCm39)	S86T	possibly damaging	Het
Sycp2	A	G	2: 177,990,088 (GRCm39)	V1386A	probably benign	Het
Syne2	T	C	12: 76,104,258 (GRCm39)	L743P	probably damaging	Het
Synj1	A	G	16: 90,806,971 (GRCm39)	V62A	probably damaging	Het
Tbc1d9b	T	C	11: 50,047,578 (GRCm39)	L637P	probably damaging	Het
Tcf12	T	G	9: 71,757,097 (GRCm39)	S697R	possibly damaging	Het
Trav5n-4	T	C	14: 53,550,362 (GRCm39)	M1T	probably null	Het
Trbv13-2	A	G	6: 41,098,716 (GRCm39)	E97G	probably benign	Het
Trpa1	G	A	1: 14,980,998 (GRCm39)	P135S	probably damaging	Het
Ugt1a6a	A	C	1: 88,066,590 (GRCm39)	D132A	possibly damaging	Het
Vmn2r8	A	T	5: 108,945,962 (GRCm39)	D548E	possibly damaging	Het
Zbtb39	A	T	10: 127,578,815 (GRCm39)	D463V	probably damaging	Het
Zc3h12c	C	T	9: 52,037,858 (GRCm39)		probably benign	Het
Zfp952	C	T	17: 33,222,004 (GRCm39)	P161L	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
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
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'- ACTGCAGTTCCTTGCACAC -3'
(R):5'- CATCTGGAAGCAAAGTCATGGC -3'

Sequencing Primer
(F):5'- TTGCACACTGGGCTGCAATAC -3'
(R):5'- TCTGGAAGCAAAGTCATGGCTTTAG -3'

Posted On

2021-04-30