Incidental Mutation 'R8027:Bmpr2'
| ID |
617747 |
| 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 |
067466-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8027 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
59802721-59917240 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59906962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 685
(L685H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087435]
|
| AlphaFold |
O35607 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087435
AA Change: L685H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084701
Gene: ENSMUSG00000067336
AA Change: L685H
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (47/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
C |
T |
3: 40,888,158 (GRCm39) |
T334I |
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,272,574 (GRCm39) |
N527S |
probably damaging |
Het |
| Aldh5a1 |
A |
T |
13: 25,110,093 (GRCm39) |
Y147* |
probably null |
Het |
| Astn2 |
A |
C |
4: 65,459,208 (GRCm39) |
V1121G |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,747,809 (GRCm39) |
Y364N |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 143,024,046 (GRCm39) |
L248P |
possibly damaging |
Het |
| Calcoco2 |
A |
T |
11: 95,991,241 (GRCm39) |
|
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,543,215 (GRCm39) |
L241P |
probably damaging |
Het |
| Fam107a |
A |
T |
14: 8,298,813 (GRCm38) |
|
probably benign |
Het |
| Fam161a |
A |
T |
11: 22,970,125 (GRCm39) |
K101M |
probably damaging |
Het |
| Fancd2 |
C |
T |
6: 113,523,583 (GRCm39) |
T240I |
probably damaging |
Het |
| Fbxl8 |
C |
T |
8: 105,994,758 (GRCm39) |
T90I |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,790,983 (GRCm39) |
V998A |
probably benign |
Het |
| Fut1 |
G |
A |
7: 45,268,289 (GRCm39) |
G81E |
probably damaging |
Het |
| Gapdh |
A |
G |
6: 125,139,331 (GRCm39) |
V285A |
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,221,722 (GRCm39) |
T116A |
probably damaging |
Het |
| Grhl2 |
A |
G |
15: 37,279,727 (GRCm39) |
E145G |
probably benign |
Het |
| Grik1 |
T |
G |
16: 87,732,893 (GRCm39) |
T660P |
|
Het |
| Gzmk |
T |
A |
13: 113,308,434 (GRCm39) |
K256* |
probably null |
Het |
| Hsp90b1 |
A |
G |
10: 86,532,594 (GRCm39) |
S361P |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,292,397 (GRCm39) |
S645P |
probably damaging |
Het |
| Izumo1 |
T |
C |
7: 45,275,678 (GRCm39) |
V329A |
probably benign |
Het |
| Leng8 |
CT |
C |
7: 4,145,855 (GRCm39) |
|
probably null |
Het |
| Lrba |
T |
A |
3: 86,325,219 (GRCm39) |
D1892E |
probably benign |
Het |
| Lztr1 |
T |
C |
16: 17,329,976 (GRCm39) |
S101P |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,181,164 (GRCm39) |
D145G |
possibly damaging |
Het |
| Nudt9 |
T |
A |
5: 104,212,793 (GRCm39) |
|
probably benign |
Het |
| Or55b10 |
T |
A |
7: 102,143,629 (GRCm39) |
I118F |
probably damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,536,069 (GRCm39) |
S688P |
possibly damaging |
Het |
| Prpf40a |
A |
G |
2: 53,081,150 (GRCm39) |
M17T |
probably benign |
Het |
| Psg29 |
G |
A |
7: 16,942,565 (GRCm39) |
V189M |
possibly damaging |
Het |
| Ptprm |
T |
C |
17: 67,251,200 (GRCm39) |
Y559C |
probably damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,015,694 (GRCm39) |
Q290R |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,462,856 (GRCm39) |
Y1060C |
probably damaging |
Het |
| Sh3pxd2b |
C |
T |
11: 32,372,210 (GRCm39) |
T459M |
probably benign |
Het |
| Skint4 |
G |
T |
4: 112,015,182 (GRCm39) |
|
probably null |
Het |
| Skint8 |
T |
A |
4: 111,785,936 (GRCm39) |
D127E |
probably benign |
Het |
| Slc13a2 |
T |
A |
11: 78,295,582 (GRCm39) |
M95L |
probably benign |
Het |
| Slc5a2 |
A |
G |
7: 127,869,718 (GRCm39) |
M384V |
probably damaging |
Het |
| Timd5 |
T |
C |
11: 46,428,744 (GRCm39) |
I222T |
probably benign |
Het |
| Tmem198 |
A |
T |
1: 75,456,706 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,727,060 (GRCm39) |
I5835T |
unknown |
Het |
| Tulp3 |
T |
C |
6: 128,311,436 (GRCm39) |
D73G |
probably benign |
Het |
| Ube2e2 |
A |
C |
14: 18,574,317 (GRCm38) |
W195G |
possibly damaging |
Het |
| Utp25 |
A |
G |
1: 192,800,530 (GRCm39) |
V430A |
probably benign |
Het |
| Wwp2 |
C |
A |
8: 108,282,109 (GRCm39) |
H768N |
probably 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 |
|
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 |
|
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'- ACAAGCGTCACAAGCCTGTC -3'
(R):5'- AGATCTGAGCAGGTGGAACATC -3'
Sequencing Primer
(F):5'- GGCATGACCACTATATCTGAGATGC -3'
(R):5'- TCAGGAATTAAACATGCTTGCCC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation