Incidental Mutation 'R5324:Bmp2'
| ID |
405005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmp2
|
| Ensembl Gene |
ENSMUSG00000027358 |
| Gene Name |
bone morphogenetic protein 2 |
| Synonyms |
Bmp2a |
| MMRRC Submission |
042907-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5324 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
133394079-133404805 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 133403279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 277
(R277*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028836]
|
| AlphaFold |
P21274 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028836
AA Change: R277*
|
| SMART Domains |
Protein: ENSMUSP00000028836
Gene: ENSMUSG00000027358
AA Change: R277*
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.2%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
| Ap5b1 |
G |
A |
19: 5,619,863 (GRCm39) |
E428K |
possibly damaging |
Het |
| Cbl |
A |
T |
9: 44,065,551 (GRCm39) |
S659T |
probably damaging |
Het |
| Col14a1 |
A |
T |
15: 55,201,841 (GRCm39) |
H43L |
unknown |
Het |
| Corin |
A |
G |
5: 72,592,600 (GRCm39) |
C133R |
probably damaging |
Het |
| Cyp1a1 |
A |
G |
9: 57,609,652 (GRCm39) |
N401S |
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,132,227 (GRCm39) |
D508G |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,348,819 (GRCm39) |
H2556L |
probably benign |
Het |
| Dock8 |
T |
C |
19: 25,140,458 (GRCm39) |
F1333L |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,005,660 (GRCm39) |
K717E |
possibly damaging |
Het |
| Fmn2 |
G |
A |
1: 174,436,446 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hbp1 |
T |
C |
12: 31,978,617 (GRCm39) |
N510S |
probably damaging |
Het |
| Lrguk |
T |
C |
6: 34,050,732 (GRCm39) |
S397P |
possibly damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,953,570 (GRCm39) |
D617V |
probably damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| N6amt1 |
A |
G |
16: 87,151,241 (GRCm39) |
D34G |
probably damaging |
Het |
| Nktr |
A |
T |
9: 121,556,412 (GRCm39) |
D30V |
probably damaging |
Het |
| Or52ab7 |
T |
A |
7: 102,978,257 (GRCm39) |
M188K |
probably damaging |
Het |
| Or5w8 |
A |
T |
2: 87,688,040 (GRCm39) |
I174F |
probably damaging |
Het |
| Or6c212 |
T |
A |
10: 129,558,814 (GRCm39) |
I200L |
probably benign |
Het |
| Pabpc1 |
A |
G |
15: 36,600,869 (GRCm39) |
F314L |
probably damaging |
Het |
| Papln |
G |
A |
12: 83,821,345 (GRCm39) |
V226M |
probably damaging |
Het |
| Parp12 |
A |
T |
6: 39,079,546 (GRCm39) |
D321E |
probably damaging |
Het |
| Plch2 |
T |
A |
4: 155,068,991 (GRCm39) |
T1107S |
probably benign |
Het |
| Psma2 |
T |
C |
13: 14,799,802 (GRCm39) |
L182P |
probably damaging |
Het |
| Rcl1 |
A |
G |
19: 29,105,401 (GRCm39) |
Y196C |
probably benign |
Het |
| Rdh16 |
G |
A |
10: 127,637,136 (GRCm39) |
V24M |
probably damaging |
Het |
| Rpe65 |
A |
G |
3: 159,310,041 (GRCm39) |
T105A |
possibly damaging |
Het |
| Serpini1 |
T |
C |
3: 75,547,601 (GRCm39) |
I371T |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,191,674 (GRCm39) |
N920S |
probably benign |
Het |
| Tmem71 |
C |
T |
15: 66,427,063 (GRCm39) |
S44N |
probably benign |
Het |
| Tmprss11f |
T |
A |
5: 86,704,837 (GRCm39) |
D27V |
possibly damaging |
Het |
| Zfp747l1 |
G |
T |
7: 126,984,079 (GRCm39) |
|
probably benign |
Het |
| Zxdc |
T |
A |
6: 90,350,782 (GRCm39) |
I411N |
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 |
|
IGL02703:Bmp2
|
APN |
2 |
133,403,324 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCAGTGGGAGAGCTTCG -3'
(R):5'- AGTTCAGGTGGTCAGCAAGG -3'
Sequencing Primer
(F):5'- TGGGAGAGCTTCGACGTCAC -3'
(R):5'- GGGAAAAGGACACTCCCCATG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation