Incidental Mutation 'R4558:Bmpr2'
| ID |
342931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmpr2
|
| Ensembl Gene |
ENSMUSG00000067336 |
| Gene Name |
bone morphogenetic protein receptor type 2 |
| Synonyms |
BMPR-II, BMP-2, BMPRII, 2610024H22Rik |
| MMRRC Submission |
042005-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4558 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
59802721-59917240 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59884851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 279
(M279K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087435]
|
| AlphaFold |
O35607 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087435
AA Change: M279K
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000084701
Gene: ENSMUSG00000067336
AA Change: M279K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Activin_recp
|
33 |
131 |
6.9e-17 |
PFAM |
|
low complexity region
|
132 |
142 |
N/A |
INTRINSIC |
|
transmembrane domain
|
152 |
174 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
203 |
501 |
6.6e-33 |
PFAM |
|
Pfam:Pkinase_Tyr
|
203 |
501 |
1.3e-29 |
PFAM |
|
low complexity region
|
545 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
603 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
694 |
710 |
N/A |
INTRINSIC |
|
low complexity region
|
901 |
908 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190659
|
| Meta Mutation Damage Score |
0.9137 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: This gene encodes a serine/threonine kinase that functions as a receptor for bone morphogenetic proteins (BMPs). The encoded protein is a type II receptor that binds extracellular BMPs and forms a complex of two type II and two type I receptors at the cell membrane. This complex signals downstream to activate SMAD transcriptional regulators. This signaling is important during embryonic development. Mutations in this gene can cause pulmonary hypertension. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous null mutants arrest at the egg cylinder stage and die before embryonic day 9.5 with failure to form organized structure and lacking mesoderm. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017G19Rik |
A |
G |
3: 40,567,240 (GRCm39) |
|
noncoding transcript |
Het |
| A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
| Acot11 |
T |
C |
4: 106,605,563 (GRCm39) |
N583S |
probably damaging |
Het |
| Alox12 |
T |
G |
11: 70,143,889 (GRCm39) |
M164L |
probably benign |
Het |
| Atad2b |
A |
G |
12: 4,993,223 (GRCm39) |
I247M |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,825,670 (GRCm39) |
T502A |
possibly damaging |
Het |
| Casp12 |
A |
T |
9: 5,352,742 (GRCm39) |
Y188F |
probably damaging |
Het |
| Catsperb |
A |
G |
12: 101,557,799 (GRCm39) |
Y790C |
possibly damaging |
Het |
| Cnbd1 |
G |
T |
4: 19,055,095 (GRCm39) |
N110K |
possibly damaging |
Het |
| Entrep1 |
G |
A |
19: 24,007,913 (GRCm39) |
S130L |
probably damaging |
Het |
| Fam227b |
C |
T |
2: 125,968,963 (GRCm39) |
S37N |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,815,297 (GRCm39) |
S3677P |
possibly damaging |
Het |
| Gm10764 |
A |
G |
10: 87,126,682 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q6 |
T |
C |
17: 35,647,291 (GRCm39) |
V312A |
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,422,190 (GRCm39) |
D972V |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 33,807,578 (GRCm39) |
T2597I |
possibly damaging |
Het |
| Kng1 |
C |
A |
16: 22,896,168 (GRCm39) |
|
probably null |
Het |
| Med13 |
T |
C |
11: 86,189,880 (GRCm39) |
T1010A |
probably damaging |
Het |
| Nbeal1 |
C |
T |
1: 60,320,469 (GRCm39) |
R2021* |
probably null |
Het |
| Ncapg |
A |
T |
5: 45,833,986 (GRCm39) |
T341S |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pabir2 |
G |
A |
X: 52,349,554 (GRCm39) |
|
probably benign |
Het |
| Pcdhb4 |
A |
G |
18: 37,443,017 (GRCm39) |
I776V |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,573,192 (GRCm39) |
V697A |
probably benign |
Het |
| Pramel13 |
T |
C |
4: 144,122,542 (GRCm39) |
M1V |
probably null |
Het |
| Psd4 |
G |
A |
2: 24,294,806 (GRCm39) |
V789M |
probably damaging |
Het |
| Rasa3 |
T |
C |
8: 13,648,259 (GRCm39) |
E135G |
probably damaging |
Het |
| Serpinb9c |
T |
A |
13: 33,338,482 (GRCm39) |
E139V |
probably benign |
Het |
| Sgsm1 |
G |
A |
5: 113,405,977 (GRCm39) |
|
probably benign |
Het |
| Tmem161b |
A |
G |
13: 84,399,363 (GRCm39) |
I6M |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,978,404 (GRCm39) |
M423V |
unknown |
Het |
| Vmn1r207 |
A |
G |
13: 22,910,581 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Bmpr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Bmpr2
|
APN |
1 |
59,854,474 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01366:Bmpr2
|
APN |
1 |
59,852,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02281:Bmpr2
|
APN |
1 |
59,907,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02531:Bmpr2
|
APN |
1 |
59,884,873 (GRCm39) |
splice site |
probably null |
|
|
IGL03114:Bmpr2
|
APN |
1 |
59,906,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Bmpr2
|
UTSW |
1 |
59,854,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0145:Bmpr2
|
UTSW |
1 |
59,906,739 (GRCm39) |
frame shift |
probably null |
|
|
R0423:Bmpr2
|
UTSW |
1 |
59,907,669 (GRCm39) |
missense |
probably benign |
|
|
R0480:Bmpr2
|
UTSW |
1 |
59,884,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0556:Bmpr2
|
UTSW |
1 |
59,854,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0597:Bmpr2
|
UTSW |
1 |
59,880,584 (GRCm39) |
splice site |
probably benign |
|
|
R1167:Bmpr2
|
UTSW |
1 |
59,898,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1537:Bmpr2
|
UTSW |
1 |
59,907,285 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1769:Bmpr2
|
UTSW |
1 |
59,907,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Bmpr2
|
UTSW |
1 |
59,907,556 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1972:Bmpr2
|
UTSW |
1 |
59,852,762 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4524:Bmpr2
|
UTSW |
1 |
59,906,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4667:Bmpr2
|
UTSW |
1 |
59,906,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Bmpr2
|
UTSW |
1 |
59,906,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Bmpr2
|
UTSW |
1 |
59,906,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4868:Bmpr2
|
UTSW |
1 |
59,909,615 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4922:Bmpr2
|
UTSW |
1 |
59,906,583 (GRCm39) |
missense |
probably benign |
|
|
R5015:Bmpr2
|
UTSW |
1 |
59,890,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5421:Bmpr2
|
UTSW |
1 |
59,909,577 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5808:Bmpr2
|
UTSW |
1 |
59,906,560 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6057:Bmpr2
|
UTSW |
1 |
59,881,977 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6228:Bmpr2
|
UTSW |
1 |
59,906,595 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6449:Bmpr2
|
UTSW |
1 |
59,906,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6475:Bmpr2
|
UTSW |
1 |
59,907,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6754:Bmpr2
|
UTSW |
1 |
59,909,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7080:Bmpr2
|
UTSW |
1 |
59,906,842 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7410:Bmpr2
|
UTSW |
1 |
59,907,652 (GRCm39) |
missense |
probably benign |
|
|
R7425:Bmpr2
|
UTSW |
1 |
59,906,510 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8027:Bmpr2
|
UTSW |
1 |
59,906,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8032:Bmpr2
|
UTSW |
1 |
59,906,502 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8117:Bmpr2
|
UTSW |
1 |
59,886,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8142:Bmpr2
|
UTSW |
1 |
59,909,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8166:Bmpr2
|
UTSW |
1 |
59,906,740 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8376:Bmpr2
|
UTSW |
1 |
59,906,515 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8419:Bmpr2
|
UTSW |
1 |
59,906,515 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8770:Bmpr2
|
UTSW |
1 |
59,884,684 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8949:Bmpr2
|
UTSW |
1 |
59,906,860 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9016:Bmpr2
|
UTSW |
1 |
59,854,460 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9296:Bmpr2
|
UTSW |
1 |
59,906,502 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9469:Bmpr2
|
UTSW |
1 |
59,881,928 (GRCm39) |
missense |
probably benign |
|
|
R9773:Bmpr2
|
UTSW |
1 |
59,907,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Bmpr2
|
UTSW |
1 |
59,886,326 (GRCm39) |
missense |
not run |
|
|
Z1177:Bmpr2
|
UTSW |
1 |
59,886,326 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGGTTCCTTGGATGAGCGTC -3'
(R):5'- CTGCAGATTCACATTCTAGGTTTC -3'
Sequencing Primer
(F):5'- GCGTCCAGTTGCTGTAAAAG -3'
(R):5'- TAGGTGTCCTAGAAGCAATTGCC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation