Incidental Mutation 'IGL02703:Bmp2'
| ID |
304205 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bmp2
|
| Ensembl Gene |
ENSMUSG00000027358 |
| Gene Name |
bone morphogenetic protein 2 |
| Synonyms |
Bmp2a |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02703
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
133394079-133404805 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 133403324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 292
(S292A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028836]
|
| AlphaFold |
P21274 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028836
AA Change: S292A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028836
Gene: ENSMUSG00000027358
AA Change: S292A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
35 |
265 |
7.9e-55 |
PFAM |
|
TGFB
|
294 |
394 |
9.33e-69 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175597
|
| Coding Region Coverage |
|
| 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. While a homozygous knockout mouse for this gene exhibits embryonic lethality, conditional knockout mice have defects in bone, cartilage and heart development. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mutants die at embryonic day 7.5-9 with failure of the proamniotic canal to close and abnormal development of the heart in the exocoelomic cavity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
A |
T |
3: 37,118,390 (GRCm39) |
Q60L |
probably damaging |
Het |
| AI593442 |
A |
C |
9: 52,589,418 (GRCm39) |
L53R |
probably damaging |
Het |
| Cd37 |
T |
C |
7: 44,884,949 (GRCm39) |
D186G |
probably benign |
Het |
| Cenpf |
T |
C |
1: 189,391,955 (GRCm39) |
I626V |
probably benign |
Het |
| Faim |
T |
A |
9: 98,874,254 (GRCm39) |
S49T |
probably benign |
Het |
| Glrb |
T |
G |
3: 80,758,300 (GRCm39) |
E371A |
probably benign |
Het |
| Kcne2 |
T |
C |
16: 92,093,838 (GRCm39) |
S122P |
possibly damaging |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Or10v1 |
A |
G |
19: 11,873,606 (GRCm39) |
T74A |
possibly damaging |
Het |
| Or2f1 |
T |
G |
6: 42,721,010 (GRCm39) |
I13S |
possibly damaging |
Het |
| Or8k3 |
T |
A |
2: 86,059,323 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
C |
A |
5: 3,665,120 (GRCm39) |
H573Q |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,333,925 (GRCm39) |
S235P |
probably damaging |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Slc41a2 |
T |
C |
10: 83,090,711 (GRCm39) |
K491R |
probably damaging |
Het |
| Sugct |
T |
G |
13: 17,627,125 (GRCm39) |
T243P |
possibly damaging |
Het |
| Tnfaip3 |
G |
T |
10: 18,882,780 (GRCm39) |
D212E |
probably damaging |
Het |
| Trim68 |
A |
G |
7: 102,333,286 (GRCm39) |
V132A |
probably damaging |
Het |
|
| Other mutations in Bmp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Bmp2
|
APN |
2 |
133,402,947 (GRCm39) |
missense |
probably benign |
|
|
IGL01146:Bmp2
|
APN |
2 |
133,403,220 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01933:Bmp2
|
APN |
2 |
133,396,578 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02008:Bmp2
|
APN |
2 |
133,402,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02047:Bmp2
|
APN |
2 |
133,402,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02065:Bmp2
|
APN |
2 |
133,402,844 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1136:Bmp2
|
UTSW |
2 |
133,402,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Bmp2
|
UTSW |
2 |
133,403,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2032:Bmp2
|
UTSW |
2 |
133,403,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3683:Bmp2
|
UTSW |
2 |
133,396,392 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4468:Bmp2
|
UTSW |
2 |
133,396,374 (GRCm39) |
missense |
probably benign |
|
|
R5211:Bmp2
|
UTSW |
2 |
133,396,550 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5324:Bmp2
|
UTSW |
2 |
133,403,279 (GRCm39) |
nonsense |
probably null |
|
|
R5587:Bmp2
|
UTSW |
2 |
133,396,566 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7040:Bmp2
|
UTSW |
2 |
133,403,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7574:Bmp2
|
UTSW |
2 |
133,402,817 (GRCm39) |
missense |
probably benign |
|
|
R7965:Bmp2
|
UTSW |
2 |
133,403,105 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8537:Bmp2
|
UTSW |
2 |
133,403,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8805:Bmp2
|
UTSW |
2 |
133,403,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation