Incidental Mutation 'IGL02281:Bmpr2'
| ID |
289840 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bmpr2
|
| Ensembl Gene |
ENSMUSG00000067336 |
| Gene Name |
bone morphogenetic protein receptor type 2 |
| Synonyms |
BMPR-II, BMP-2, BMPRII, 2610024H22Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02281
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
59802721-59917240 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59907503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 865
(D865E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087435]
|
| AlphaFold |
O35607 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087435
AA Change: D865E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084701
Gene: ENSMUSG00000067336
AA Change: D865E
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrp |
T |
C |
8: 106,293,786 (GRCm39) |
E60G |
probably benign |
Het |
| Aldh3a1 |
T |
G |
11: 61,107,949 (GRCm39) |
|
probably null |
Het |
| Bach2 |
T |
C |
4: 32,562,513 (GRCm39) |
C327R |
possibly damaging |
Het |
| Bcam |
C |
T |
7: 19,492,616 (GRCm39) |
G523D |
probably damaging |
Het |
| Calm1 |
A |
T |
12: 100,171,883 (GRCm39) |
I112F |
probably damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,895,656 (GRCm39) |
V542A |
probably benign |
Het |
| Clec5a |
A |
T |
6: 40,561,336 (GRCm39) |
D36E |
probably benign |
Het |
| Clspn |
T |
A |
4: 126,459,563 (GRCm39) |
C321S |
possibly damaging |
Het |
| Cmtr1 |
T |
A |
17: 29,910,255 (GRCm39) |
D453E |
probably benign |
Het |
| Cntnap1 |
T |
A |
11: 101,073,080 (GRCm39) |
D561E |
possibly damaging |
Het |
| Cul5 |
A |
G |
9: 53,546,349 (GRCm39) |
V137A |
possibly damaging |
Het |
| Cyp2b9 |
A |
G |
7: 25,900,529 (GRCm39) |
Y389C |
probably damaging |
Het |
| Ddi2 |
A |
G |
4: 141,419,730 (GRCm39) |
V340A |
probably benign |
Het |
| Etv4 |
T |
C |
11: 101,664,545 (GRCm39) |
Y235C |
probably damaging |
Het |
| Gm3099 |
G |
A |
14: 15,347,225 (GRCm39) |
|
probably benign |
Het |
| Gpsm1 |
T |
A |
2: 26,229,638 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
A |
G |
7: 79,745,550 (GRCm39) |
|
probably null |
Het |
| Kit |
G |
A |
5: 75,815,194 (GRCm39) |
E973K |
possibly damaging |
Het |
| Lilra5 |
A |
G |
7: 4,241,782 (GRCm39) |
I194V |
probably benign |
Het |
| Lrp6 |
A |
C |
6: 134,434,697 (GRCm39) |
N1335K |
probably benign |
Het |
| Map9 |
G |
A |
3: 82,298,453 (GRCm39) |
E613K |
possibly damaging |
Het |
| Mroh2b |
G |
A |
15: 4,981,745 (GRCm39) |
A1519T |
probably benign |
Het |
| Nefm |
A |
G |
14: 68,361,913 (GRCm39) |
V117A |
probably damaging |
Het |
| Nr2c2 |
T |
A |
6: 92,131,495 (GRCm39) |
S186T |
probably benign |
Het |
| Pde2a |
G |
A |
7: 101,130,599 (GRCm39) |
A80T |
probably benign |
Het |
| Plcd1 |
A |
T |
9: 118,903,841 (GRCm39) |
C334S |
probably benign |
Het |
| Pomt1 |
T |
C |
2: 32,138,658 (GRCm39) |
S425P |
possibly damaging |
Het |
| Pspc1 |
G |
T |
14: 56,960,635 (GRCm39) |
P497T |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,948,651 (GRCm39) |
P58L |
probably benign |
Het |
| Rph3a |
T |
C |
5: 121,086,896 (GRCm39) |
T435A |
probably damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,869,777 (GRCm39) |
L746P |
probably damaging |
Het |
| Sfrp2 |
A |
G |
3: 83,680,446 (GRCm39) |
E202G |
possibly damaging |
Het |
| Slc25a38 |
T |
C |
9: 119,946,598 (GRCm39) |
S111P |
probably damaging |
Het |
| Tfcp2l1 |
T |
C |
1: 118,597,110 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
A |
T |
15: 76,518,274 (GRCm39) |
L566H |
probably damaging |
Het |
| Tsc1 |
C |
A |
2: 28,553,607 (GRCm39) |
D153E |
probably damaging |
Het |
| Vmn2r37 |
A |
T |
7: 9,220,881 (GRCm39) |
H327Q |
possibly damaging |
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 |
|
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 |
|
R4558:Bmpr2
|
UTSW |
1 |
59,884,851 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation