Incidental Mutation 'IGL00959:Bmpr2'
| ID |
26719 |
| 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 # |
IGL00959
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
59802721-59917240 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59854474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 108
(I108F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087435]
|
| AlphaFold |
O35607 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087435
AA Change: I108F
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000084701
Gene: ENSMUSG00000067336
AA Change: I108F
| 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 |
|---|
| Alox12b |
A |
T |
11: 69,057,069 (GRCm39) |
H430L |
probably damaging |
Het |
| Aox4 |
G |
T |
1: 58,278,333 (GRCm39) |
V443F |
probably damaging |
Het |
| Cflar |
G |
A |
1: 58,768,321 (GRCm39) |
|
probably null |
Het |
| Chchd3 |
A |
G |
6: 32,945,188 (GRCm39) |
V106A |
probably benign |
Het |
| Chl1 |
G |
T |
6: 103,686,211 (GRCm39) |
|
probably null |
Het |
| Clvs2 |
C |
T |
10: 33,404,459 (GRCm39) |
M252I |
probably benign |
Het |
| Cntnap5a |
T |
A |
1: 116,112,057 (GRCm39) |
L449Q |
probably benign |
Het |
| Col6a2 |
T |
A |
10: 76,450,368 (GRCm39) |
I188F |
probably damaging |
Het |
| Cyp2c55 |
A |
G |
19: 39,026,587 (GRCm39) |
D398G |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 139,071,626 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,369,484 (GRCm39) |
Y106N |
probably damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,334,493 (GRCm39) |
|
probably null |
Het |
| Extl3 |
C |
T |
14: 65,314,361 (GRCm39) |
V274I |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,929,140 (GRCm39) |
R3848H |
probably damaging |
Het |
| Gm11437 |
A |
C |
11: 84,039,448 (GRCm39) |
|
probably benign |
Het |
| Gss |
T |
A |
2: 155,423,871 (GRCm39) |
D2V |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ilvbl |
G |
A |
10: 78,419,739 (GRCm39) |
D548N |
probably damaging |
Het |
| Jmjd6 |
A |
T |
11: 116,733,202 (GRCm39) |
D115E |
possibly damaging |
Het |
| Kidins220 |
T |
A |
12: 25,101,132 (GRCm39) |
S1110R |
possibly damaging |
Het |
| Kmt2c |
T |
A |
5: 25,481,227 (GRCm39) |
I4784F |
probably damaging |
Het |
| Mrpl52 |
T |
C |
14: 54,664,494 (GRCm39) |
V11A |
possibly damaging |
Het |
| Myo3b |
A |
G |
2: 70,144,636 (GRCm39) |
Y1036C |
probably damaging |
Het |
| Omp |
T |
C |
7: 97,794,357 (GRCm39) |
D90G |
probably damaging |
Het |
| Or6c2b |
T |
A |
10: 128,947,893 (GRCm39) |
M134L |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,854,086 (GRCm39) |
I541V |
probably benign |
Het |
| Ppp2r1a |
A |
T |
17: 21,181,840 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,665,437 (GRCm39) |
|
probably null |
Het |
| Rock2 |
C |
A |
12: 17,028,056 (GRCm39) |
N1429K |
probably benign |
Het |
| Saxo4 |
A |
T |
19: 10,454,887 (GRCm39) |
|
probably null |
Het |
| Slc25a20 |
T |
G |
9: 108,559,198 (GRCm39) |
M188R |
possibly damaging |
Het |
| Slc28a1 |
T |
C |
7: 80,818,816 (GRCm39) |
|
probably benign |
Het |
| Sult2a6 |
T |
C |
7: 13,988,634 (GRCm39) |
Y42C |
probably damaging |
Het |
| Tgfb2 |
A |
G |
1: 186,436,784 (GRCm39) |
V63A |
probably benign |
Het |
| Ugt2b38 |
A |
T |
5: 87,559,682 (GRCm39) |
N403K |
probably damaging |
Het |
| Vmn2r29 |
A |
G |
7: 7,244,855 (GRCm39) |
W340R |
probably benign |
Het |
| Wnt5a |
C |
T |
14: 28,244,866 (GRCm39) |
T351M |
probably damaging |
Het |
|
| Other mutations in Bmpr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation