Incidental Mutation 'R4362:Tnfrsf11b'
| ID |
324966 |
| 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 |
041671-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R4362 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
54114014-54141700 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 54119555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 140
(T140S)
|
| 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: T140S
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078705
Gene: ENSMUSG00000063727
AA Change: T140S
| 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 |
0.4789 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (39/39) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
C |
T |
7: 28,947,687 (GRCm39) |
|
probably benign |
Het |
| Abcc6 |
A |
G |
7: 45,648,256 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
G |
A |
2: 26,894,794 (GRCm39) |
C1034Y |
probably damaging |
Het |
| Atp2b4 |
G |
T |
1: 133,667,669 (GRCm39) |
P125Q |
possibly damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,697,608 (GRCm39) |
R412H |
probably damaging |
Het |
| Bicc1 |
ATGTG |
ATG |
10: 70,779,204 (GRCm39) |
|
probably null |
Het |
| Cap1 |
G |
A |
4: 122,756,780 (GRCm39) |
P302S |
probably benign |
Het |
| Chodl |
G |
T |
16: 78,741,546 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
T |
A |
15: 8,300,229 (GRCm39) |
S3179T |
unknown |
Het |
| Cplx2 |
A |
T |
13: 54,526,630 (GRCm39) |
T13S |
probably benign |
Het |
| Dennd5a |
G |
A |
7: 109,495,550 (GRCm39) |
R1194W |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,183,214 (GRCm39) |
D68V |
probably damaging |
Het |
| Dus4l |
A |
C |
12: 31,698,827 (GRCm39) |
I59R |
probably damaging |
Het |
| Edc3 |
C |
T |
9: 57,620,829 (GRCm39) |
P50L |
probably damaging |
Het |
| Ext1 |
G |
A |
15: 52,970,987 (GRCm39) |
|
probably benign |
Het |
| Fam219a |
C |
T |
4: 41,518,844 (GRCm39) |
|
probably benign |
Het |
| Fbxl3 |
A |
T |
14: 103,329,749 (GRCm39) |
D106E |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,369,172 (GRCm39) |
N50D |
possibly damaging |
Het |
| Gins1 |
G |
A |
2: 150,751,682 (GRCm39) |
R15H |
probably damaging |
Het |
| Glrx2 |
A |
G |
1: 143,617,418 (GRCm39) |
K44R |
possibly damaging |
Het |
| Icam1 |
A |
G |
9: 20,937,608 (GRCm39) |
D215G |
possibly damaging |
Het |
| Nedd9 |
A |
T |
13: 41,471,429 (GRCm39) |
I184N |
probably damaging |
Het |
| Or10a2 |
T |
C |
7: 106,673,799 (GRCm39) |
S255P |
probably damaging |
Het |
| Or1e21 |
T |
C |
11: 73,344,391 (GRCm39) |
M216V |
probably benign |
Het |
| Otulinl |
C |
T |
15: 27,664,429 (GRCm39) |
|
probably null |
Het |
| Rhot2 |
A |
G |
17: 26,061,065 (GRCm39) |
C147R |
probably damaging |
Het |
| Saxo4 |
T |
C |
19: 10,452,385 (GRCm39) |
Y375C |
probably damaging |
Het |
| Setd4 |
T |
C |
16: 93,380,574 (GRCm39) |
|
probably null |
Het |
| Slc6a4 |
A |
G |
11: 76,907,904 (GRCm39) |
N356S |
probably damaging |
Het |
| Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
| Tmem168 |
A |
C |
6: 13,595,072 (GRCm39) |
I381S |
probably benign |
Het |
| Ttpa |
G |
T |
4: 20,023,827 (GRCm39) |
E130* |
probably null |
Het |
| Ubr5 |
A |
G |
15: 38,078,647 (GRCm39) |
V8A |
probably damaging |
Het |
| Vmn2r18 |
C |
T |
5: 151,496,368 (GRCm39) |
C450Y |
probably damaging |
Het |
| Vmn2r32 |
A |
T |
7: 7,482,857 (GRCm39) |
L39* |
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 |
|
|
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'- TGGCATGCTGTGTATAGTTACC -3'
(R):5'- AGCGCAACAAACTTGTGTGG -3'
Sequencing Primer
(F):5'- GCATGCTGTGTATAGTTACCTATTC -3'
(R):5'- CGCAACAAACTTGTGTGGGTATTAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation