Incidental Mutation 'R0881:Bmp3'
ID |
80528 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bmp3
|
Ensembl Gene |
ENSMUSG00000029335 |
Gene Name |
bone morphogenetic protein 3 |
Synonyms |
9530029I04Rik |
MMRRC Submission |
039048-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0881 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
99002274-99031912 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99020461 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 295
(N295D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142907
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031278]
[ENSMUST00000197143]
[ENSMUST00000200388]
|
AlphaFold |
Q8BHE5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031278
AA Change: N295D
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000031278 Gene: ENSMUSG00000029335 AA Change: N295D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:TGFb_propeptide
|
34 |
231 |
7.9e-9 |
PFAM |
TGFB
|
366 |
468 |
6.17e-60 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197143
AA Change: N295D
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142662 Gene: ENSMUSG00000029335 AA Change: N295D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:TGFb_propeptide
|
40 |
227 |
1.2e-9 |
PFAM |
TGFB
|
366 |
433 |
5.1e-11 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200388
AA Change: N295D
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000142907 Gene: ENSMUSG00000029335 AA Change: N295D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:TGFb_propeptide
|
40 |
227 |
1.4e-9 |
PFAM |
TGFB
|
366 |
442 |
3.9e-11 |
SMART |
|
Meta Mutation Damage Score |
0.1066 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 93.0%
|
Validation Efficiency |
96% (51/53) |
MGI Phenotype |
FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. Homozygous knockout mice for this gene exhibit increased bone density and volume, while overexpression of this gene in a transgenic mouse causes bone defects resulting in spontaneous rib fractures. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016] PHENOTYPE: Homozygous mutation of this gene results in increased bone density. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
Abcc9 |
T |
A |
6: 142,592,029 (GRCm39) |
I732F |
probably damaging |
Het |
Adam10 |
T |
C |
9: 70,653,519 (GRCm39) |
S248P |
probably damaging |
Het |
Adam18 |
A |
T |
8: 25,162,159 (GRCm39) |
|
probably benign |
Het |
Angel2 |
G |
A |
1: 190,669,661 (GRCm39) |
E114K |
probably damaging |
Het |
Arhgap29 |
A |
G |
3: 121,808,328 (GRCm39) |
T1169A |
probably damaging |
Het |
Atp13a2 |
T |
A |
4: 140,731,242 (GRCm39) |
M759K |
probably damaging |
Het |
Atxn2l |
A |
G |
7: 126,095,768 (GRCm39) |
S450P |
probably damaging |
Het |
B3glct |
T |
A |
5: 149,663,034 (GRCm39) |
V264E |
probably damaging |
Het |
Bbx |
A |
G |
16: 50,040,963 (GRCm39) |
|
probably benign |
Het |
C9 |
G |
A |
15: 6,488,349 (GRCm39) |
|
probably benign |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Cdan1 |
A |
T |
2: 120,551,466 (GRCm39) |
V1039E |
probably damaging |
Het |
Dennd4a |
T |
C |
9: 64,758,665 (GRCm39) |
|
probably null |
Het |
Ext1 |
A |
G |
15: 53,207,879 (GRCm39) |
L294P |
probably benign |
Het |
Fsip2 |
C |
A |
2: 82,816,617 (GRCm39) |
H4117N |
possibly damaging |
Het |
Itga8 |
C |
T |
2: 12,267,003 (GRCm39) |
|
probably null |
Het |
Itln1 |
G |
T |
1: 171,360,949 (GRCm39) |
H48N |
probably benign |
Het |
Kcna5 |
T |
A |
6: 126,511,957 (GRCm39) |
H57L |
probably benign |
Het |
Klhdc4 |
A |
T |
8: 122,526,226 (GRCm39) |
Y304* |
probably null |
Het |
Klhl25 |
A |
G |
7: 75,516,027 (GRCm39) |
Y6C |
probably damaging |
Het |
Lars1 |
C |
T |
18: 42,347,851 (GRCm39) |
V991M |
probably benign |
Het |
Med20 |
T |
C |
17: 47,922,605 (GRCm39) |
M1T |
probably null |
Het |
Mslnl |
A |
T |
17: 25,961,939 (GRCm39) |
H138L |
possibly damaging |
Het |
Mycbp2 |
T |
C |
14: 103,457,449 (GRCm39) |
I1583V |
probably benign |
Het |
Nipbl |
A |
C |
15: 8,337,096 (GRCm39) |
V2093G |
probably damaging |
Het |
Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
Opalin |
T |
C |
19: 41,052,420 (GRCm39) |
|
probably null |
Het |
Or1j12 |
T |
G |
2: 36,343,452 (GRCm39) |
L285R |
probably damaging |
Het |
Or51d1 |
T |
A |
7: 102,348,291 (GRCm39) |
V282D |
possibly damaging |
Het |
Or8g26 |
A |
G |
9: 39,095,984 (GRCm39) |
K170R |
probably benign |
Het |
Pgm2 |
A |
T |
5: 64,250,351 (GRCm39) |
T9S |
unknown |
Het |
Piwil2 |
A |
C |
14: 70,646,376 (GRCm39) |
S387A |
probably benign |
Het |
Polr1c |
T |
C |
17: 46,555,539 (GRCm39) |
T240A |
possibly damaging |
Het |
Polr3c |
A |
G |
3: 96,631,163 (GRCm39) |
M118T |
probably damaging |
Het |
Pth1r |
C |
T |
9: 110,560,641 (GRCm39) |
C42Y |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rictor |
A |
T |
15: 6,821,151 (GRCm39) |
M1492L |
probably benign |
Het |
Rrbp1 |
T |
A |
2: 143,795,173 (GRCm39) |
Y1277F |
probably benign |
Het |
Scgb3a2 |
T |
G |
18: 43,897,549 (GRCm39) |
|
probably benign |
Het |
Skint1 |
G |
A |
4: 111,886,054 (GRCm39) |
S327N |
probably benign |
Het |
Steap4 |
A |
T |
5: 8,030,388 (GRCm39) |
S415C |
probably benign |
Het |
Tex48 |
A |
G |
4: 63,530,228 (GRCm39) |
|
probably benign |
Het |
Tox2 |
T |
A |
2: 163,163,365 (GRCm39) |
S502T |
probably benign |
Het |
Usp47 |
T |
A |
7: 111,690,643 (GRCm39) |
I762K |
possibly damaging |
Het |
Vmn2r53 |
T |
C |
7: 12,334,859 (GRCm39) |
H267R |
probably benign |
Het |
Wnt2b |
A |
G |
3: 104,860,513 (GRCm39) |
|
probably benign |
Het |
Xirp1 |
T |
C |
9: 119,847,483 (GRCm39) |
N28D |
possibly damaging |
Het |
Zeb1 |
T |
C |
18: 5,767,138 (GRCm39) |
S550P |
probably benign |
Het |
|
Other mutations in Bmp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00763:Bmp3
|
APN |
5 |
99,020,238 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02396:Bmp3
|
APN |
5 |
99,020,578 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL03058:Bmp3
|
APN |
5 |
99,019,953 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03189:Bmp3
|
APN |
5 |
99,020,579 (GRCm39) |
missense |
probably benign |
0.23 |
IGL03400:Bmp3
|
APN |
5 |
99,019,957 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4377001:Bmp3
|
UTSW |
5 |
99,027,608 (GRCm39) |
missense |
unknown |
|
R0139:Bmp3
|
UTSW |
5 |
99,027,768 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0653:Bmp3
|
UTSW |
5 |
99,019,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R1261:Bmp3
|
UTSW |
5 |
99,027,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R1413:Bmp3
|
UTSW |
5 |
99,020,264 (GRCm39) |
missense |
probably damaging |
0.98 |
R1481:Bmp3
|
UTSW |
5 |
99,020,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R3009:Bmp3
|
UTSW |
5 |
99,027,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R4507:Bmp3
|
UTSW |
5 |
99,027,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R4750:Bmp3
|
UTSW |
5 |
99,020,417 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4833:Bmp3
|
UTSW |
5 |
99,003,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R4921:Bmp3
|
UTSW |
5 |
99,019,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R5022:Bmp3
|
UTSW |
5 |
99,020,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R6039:Bmp3
|
UTSW |
5 |
99,020,209 (GRCm39) |
missense |
probably benign |
0.00 |
R6039:Bmp3
|
UTSW |
5 |
99,020,209 (GRCm39) |
missense |
probably benign |
0.00 |
R7179:Bmp3
|
UTSW |
5 |
99,020,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R7448:Bmp3
|
UTSW |
5 |
99,020,077 (GRCm39) |
missense |
probably damaging |
0.96 |
R7880:Bmp3
|
UTSW |
5 |
99,020,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R8171:Bmp3
|
UTSW |
5 |
99,020,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R8353:Bmp3
|
UTSW |
5 |
99,003,282 (GRCm39) |
critical splice donor site |
probably null |
|
R8378:Bmp3
|
UTSW |
5 |
99,003,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R8453:Bmp3
|
UTSW |
5 |
99,003,282 (GRCm39) |
critical splice donor site |
probably null |
|
R9191:Bmp3
|
UTSW |
5 |
99,019,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGATGCTGCCATTTCTGAGCC -3'
(R):5'- GAGAGATAATCCATTCGCTCCAGCC -3'
Sequencing Primer
(F):5'- TGCCATTTCTGAGCCAGAAAG -3'
(R):5'- ATTCGCTCCAGCCGATATCAG -3'
|
Posted On |
2013-11-07 |