Incidental Mutation 'R9458:Bmp7'
ID |
714700 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bmp7
|
Ensembl Gene |
ENSMUSG00000008999 |
Gene Name |
bone morphogenetic protein 7 |
Synonyms |
OP1, osteogenic protein 1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9458 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
172709805-172782114 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 172721268 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 269
(P269L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000009143
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009143]
|
AlphaFold |
P23359 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009143
AA Change: P269L
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000009143 Gene: ENSMUSG00000008999 AA Change: P269L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
Pfam:TGFb_propeptide
|
34 |
279 |
4.3e-97 |
PFAM |
TGFB
|
329 |
430 |
2.14e-68 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
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. Mutation of this gene results in skeletal, kidney, and other developmental defects. [provided by RefSeq, Jul 2016] PHENOTYPE: Various homozygous targeted mutations result in postnatal lethality, a wide range of skeletal and cartilage abnormalities, renal dysplasia and polycystic kidney, and eye defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610010K14Rik |
T |
C |
11: 70,127,731 (GRCm39) |
I64V |
possibly damaging |
Het |
4921539E11Rik |
T |
A |
4: 103,141,608 (GRCm39) |
I18L |
possibly damaging |
Het |
Arcn1 |
A |
G |
9: 44,671,267 (GRCm39) |
S87P |
probably damaging |
Het |
Cdhr18 |
A |
T |
14: 13,856,709 (GRCm38) |
F467L |
|
Het |
Clrn2 |
A |
T |
5: 45,617,513 (GRCm39) |
Y128F |
possibly damaging |
Het |
Col2a1 |
G |
A |
15: 97,876,242 (GRCm39) |
R1192C |
unknown |
Het |
Col6a6 |
A |
G |
9: 105,586,361 (GRCm39) |
F1887L |
probably benign |
Het |
Crocc2 |
G |
T |
1: 93,145,516 (GRCm39) |
A1466S |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 31,049,777 (GRCm39) |
N4313D |
probably damaging |
Het |
Dzip1 |
T |
C |
14: 119,148,785 (GRCm39) |
E298G |
probably damaging |
Het |
Eif2b4 |
C |
A |
5: 31,350,609 (GRCm39) |
|
probably benign |
Het |
Emx1 |
T |
A |
6: 85,181,042 (GRCm39) |
V253D |
probably damaging |
Het |
Enah |
A |
T |
1: 181,746,107 (GRCm39) |
S654R |
unknown |
Het |
F2 |
A |
T |
2: 91,461,113 (GRCm39) |
N207K |
probably benign |
Het |
Flcn |
G |
T |
11: 59,690,208 (GRCm39) |
D281E |
possibly damaging |
Het |
Fzd7 |
C |
A |
1: 59,523,554 (GRCm39) |
P479Q |
probably damaging |
Het |
Gulo |
T |
C |
14: 66,235,043 (GRCm39) |
N226S |
probably benign |
Het |
Igfbp6 |
A |
G |
15: 102,057,634 (GRCm39) |
N205S |
probably benign |
Het |
Ints1 |
A |
G |
5: 139,743,407 (GRCm39) |
L1655P |
probably damaging |
Het |
Mndal |
A |
G |
1: 173,687,749 (GRCm39) |
F495S |
probably damaging |
Het |
Panx2 |
A |
G |
15: 88,952,057 (GRCm39) |
K175E |
possibly damaging |
Het |
Panx2 |
A |
C |
15: 88,952,058 (GRCm39) |
K175T |
probably damaging |
Het |
Pde6a |
A |
T |
18: 61,387,477 (GRCm39) |
Y456F |
probably damaging |
Het |
Phf21b |
A |
G |
15: 84,738,995 (GRCm39) |
L22P |
possibly damaging |
Het |
Rev3l |
T |
C |
10: 39,659,247 (GRCm39) |
I83T |
probably damaging |
Het |
Sfrp5 |
T |
C |
19: 42,190,296 (GRCm39) |
D52G |
probably benign |
Het |
Sgsm2 |
A |
G |
11: 74,759,557 (GRCm39) |
S102P |
possibly damaging |
Het |
Slc7a2 |
T |
G |
8: 41,352,330 (GRCm39) |
I131S |
probably damaging |
Het |
Snupn |
A |
T |
9: 56,890,039 (GRCm39) |
I287F |
possibly damaging |
Het |
Synj1 |
T |
G |
16: 90,766,200 (GRCm39) |
I573L |
probably benign |
Het |
Tmcc2 |
T |
G |
1: 132,286,747 (GRCm39) |
D568A |
probably damaging |
Het |
Tmf1 |
G |
T |
6: 97,153,382 (GRCm39) |
H230Q |
probably benign |
Het |
Togaram2 |
T |
C |
17: 72,024,246 (GRCm39) |
V810A |
possibly damaging |
Het |
Vmn1r169 |
T |
C |
7: 23,276,628 (GRCm39) |
S7P |
possibly damaging |
Het |
Vwce |
A |
G |
19: 10,631,688 (GRCm39) |
T550A |
possibly damaging |
Het |
Zbtb12 |
T |
C |
17: 35,115,367 (GRCm39) |
V384A |
possibly damaging |
Het |
Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
probably benign |
Het |
Zscan20 |
T |
C |
4: 128,480,639 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Bmp7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01099:Bmp7
|
APN |
2 |
172,717,055 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01143:Bmp7
|
APN |
2 |
172,721,275 (GRCm39) |
missense |
probably benign |
|
IGL01636:Bmp7
|
APN |
2 |
172,717,001 (GRCm39) |
splice site |
probably benign |
|
IGL02331:Bmp7
|
APN |
2 |
172,714,724 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03211:Bmp7
|
APN |
2 |
172,714,676 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1957:Bmp7
|
UTSW |
2 |
172,781,714 (GRCm39) |
missense |
probably damaging |
0.97 |
R2044:Bmp7
|
UTSW |
2 |
172,781,708 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3772:Bmp7
|
UTSW |
2 |
172,712,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R4392:Bmp7
|
UTSW |
2 |
172,758,335 (GRCm39) |
missense |
probably benign |
0.25 |
R6716:Bmp7
|
UTSW |
2 |
172,714,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R6774:Bmp7
|
UTSW |
2 |
172,714,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R6864:Bmp7
|
UTSW |
2 |
172,781,855 (GRCm39) |
missense |
probably benign |
0.00 |
R6904:Bmp7
|
UTSW |
2 |
172,714,706 (GRCm39) |
missense |
probably damaging |
0.97 |
R7295:Bmp7
|
UTSW |
2 |
172,781,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R7390:Bmp7
|
UTSW |
2 |
172,711,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R7392:Bmp7
|
UTSW |
2 |
172,711,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R7560:Bmp7
|
UTSW |
2 |
172,781,757 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7871:Bmp7
|
UTSW |
2 |
172,781,784 (GRCm39) |
missense |
probably benign |
0.00 |
R7938:Bmp7
|
UTSW |
2 |
172,721,283 (GRCm39) |
missense |
probably benign |
0.44 |
R8790:Bmp7
|
UTSW |
2 |
172,712,060 (GRCm39) |
missense |
probably benign |
0.08 |
R8927:Bmp7
|
UTSW |
2 |
172,721,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R8928:Bmp7
|
UTSW |
2 |
172,721,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R9470:Bmp7
|
UTSW |
2 |
172,711,960 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Bmp7
|
UTSW |
2 |
172,781,594 (GRCm39) |
missense |
probably benign |
0.25 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGGAAGCATCTGCAATGAG -3'
(R):5'- GCACTTCTAAGACAGCTCCTG -3'
Sequencing Primer
(F):5'- AGCATCTGCAATGAGCTGGTC -3'
(R):5'- TGGAATAGCCCAGCCAGTCTTTG -3'
|
Posted On |
2022-06-15 |