Incidental Mutation 'R1291:Bmp5'
| ID |
150789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmp5
|
| Ensembl Gene |
ENSMUSG00000032179 |
| Gene Name |
bone morphogenetic protein 5 |
| Synonyms |
|
| MMRRC Submission |
039357-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.613)
|
| Stock # |
R1291 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
75682646-75807592 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 75793955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 355
(K355*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012281]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000012281
AA Change: K355*
|
| SMART Domains |
Protein: ENSMUSP00000012281
Gene: ENSMUSG00000032179
AA Change: K355*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
31 |
304 |
5.2e-94 |
PFAM |
|
low complexity region
|
316 |
331 |
N/A |
INTRINSIC |
|
TGFB
|
353 |
454 |
3.54e-69 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.0%
|
| 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, which plays a role in bone and cartilage development. Mice with null mutations in this gene exhibit a short ear phenotype, which is characterized by reduced size of the external ear, altered size and shape of the sternum, and other skeletal and soft-tissue abnormalities. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous recessive mutants have shortened, slightly ruffled external ears due to a defective cartilage framework affecting the whole skeleton; a series of genomic deletions of the region cause embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
C |
A |
5: 30,404,532 (GRCm39) |
L301F |
probably damaging |
Het |
| Apba1 |
G |
T |
19: 23,895,036 (GRCm39) |
A491S |
probably damaging |
Het |
| Chdh |
C |
T |
14: 29,753,519 (GRCm39) |
R143* |
probably null |
Het |
| Evc2 |
A |
G |
5: 37,544,159 (GRCm39) |
E636G |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,623,942 (GRCm39) |
I1120F |
probably damaging |
Het |
| Lama4 |
A |
T |
10: 38,924,065 (GRCm39) |
H491L |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,231,907 (GRCm39) |
S1074T |
probably benign |
Het |
| Nell1 |
T |
C |
7: 49,879,998 (GRCm39) |
V330A |
probably benign |
Het |
| Psg20 |
T |
C |
7: 18,418,599 (GRCm39) |
D56G |
possibly damaging |
Het |
| Ptk2 |
C |
T |
15: 73,082,605 (GRCm39) |
V951I |
probably damaging |
Het |
| Qrfprl |
T |
A |
6: 65,429,884 (GRCm39) |
Y193* |
probably null |
Het |
| Rps23rg1 |
T |
C |
8: 3,633,938 (GRCm39) |
I13T |
probably damaging |
Het |
| Rtel1 |
A |
G |
2: 180,992,836 (GRCm39) |
D632G |
probably damaging |
Het |
| Smoc1 |
T |
C |
12: 81,226,365 (GRCm39) |
F397L |
probably damaging |
Het |
| Spsb3 |
G |
T |
17: 25,106,782 (GRCm39) |
|
probably null |
Het |
| Srp68 |
A |
T |
11: 116,154,107 (GRCm39) |
L154H |
probably damaging |
Het |
| Timp3 |
A |
G |
10: 86,181,702 (GRCm39) |
Y191C |
probably damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,771,404 (GRCm39) |
T766A |
probably damaging |
Het |
| Ythdc2 |
C |
T |
18: 44,988,276 (GRCm39) |
S28F |
probably benign |
Het |
| Ywhaz |
T |
C |
15: 36,772,978 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Bmp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01643:Bmp5
|
APN |
9 |
75,746,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02096:Bmp5
|
APN |
9 |
75,805,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02977:Bmp5
|
APN |
9 |
75,801,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4976:Bmp5
|
UTSW |
9 |
75,683,657 (GRCm39) |
small deletion |
probably benign |
|
|
R1679:Bmp5
|
UTSW |
9 |
75,746,877 (GRCm39) |
missense |
probably benign |
|
|
R2049:Bmp5
|
UTSW |
9 |
75,801,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2278:Bmp5
|
UTSW |
9 |
75,683,830 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5159:Bmp5
|
UTSW |
9 |
75,801,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5431:Bmp5
|
UTSW |
9 |
75,800,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5756:Bmp5
|
UTSW |
9 |
75,683,649 (GRCm39) |
missense |
probably benign |
|
|
R5884:Bmp5
|
UTSW |
9 |
75,805,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6749:Bmp5
|
UTSW |
9 |
75,683,375 (GRCm39) |
start codon destroyed |
probably benign |
0.00 |
|
R7346:Bmp5
|
UTSW |
9 |
75,780,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7522:Bmp5
|
UTSW |
9 |
75,683,384 (GRCm39) |
missense |
probably benign |
|
|
R7736:Bmp5
|
UTSW |
9 |
75,801,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8226:Bmp5
|
UTSW |
9 |
75,683,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8462:Bmp5
|
UTSW |
9 |
75,746,874 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8955:Bmp5
|
UTSW |
9 |
75,805,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8968:Bmp5
|
UTSW |
9 |
75,780,579 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9281:Bmp5
|
UTSW |
9 |
75,683,856 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9766:Bmp5
|
UTSW |
9 |
75,800,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF053:Bmp5
|
UTSW |
9 |
75,683,656 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTGAATGACAGCACCAGCC -3'
(R):5'- TCATCTGCAAATGCAAATGACTCATGC -3'
Sequencing Primer
(F):5'- CCAGCCTATGCCTGATGTATAAATG -3'
(R):5'- TCCCTAGATAGTTGTTAAACCCAACC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation