Incidental Mutation 'R7080:Bmpr2'
| ID |
549446 |
| 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 |
045174-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7080 (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 C
at 59906842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 645
(V645A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087435]
|
| AlphaFold |
O35607 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087435
AA Change: V645A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000084701
Gene: ENSMUSG00000067336
AA Change: V645A
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
94% (47/50) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,336,116 (GRCm39) |
E2162G |
probably benign |
Het |
| Ackr4 |
A |
G |
9: 103,976,761 (GRCm39) |
V62A |
probably damaging |
Het |
| Atox1 |
T |
A |
11: 55,341,365 (GRCm39) |
K57* |
probably null |
Het |
| Atp6v1e1 |
G |
A |
6: 120,799,350 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,810,730 (GRCm39) |
T1602A |
probably benign |
Het |
| Cdc42bpg |
T |
C |
19: 6,365,219 (GRCm39) |
V692A |
probably damaging |
Het |
| Cdca2 |
T |
C |
14: 67,935,551 (GRCm39) |
D388G |
probably damaging |
Het |
| Celsr1 |
G |
A |
15: 85,816,652 (GRCm39) |
R1764C |
possibly damaging |
Het |
| Copz2 |
G |
T |
11: 96,747,538 (GRCm39) |
V174L |
probably benign |
Het |
| Dnaaf1 |
T |
C |
8: 120,309,335 (GRCm39) |
L141P |
probably damaging |
Het |
| Fam170a |
T |
A |
18: 50,413,740 (GRCm39) |
|
probably null |
Het |
| Fshr |
A |
T |
17: 89,404,539 (GRCm39) |
|
probably null |
Het |
| Gbx1 |
C |
T |
5: 24,731,298 (GRCm39) |
A173T |
probably benign |
Het |
| Gm3604 |
G |
A |
13: 62,518,109 (GRCm39) |
A83V |
probably damaging |
Het |
| Gpr19 |
A |
T |
6: 134,847,419 (GRCm39) |
V88D |
probably damaging |
Het |
| Hnrnpd |
C |
T |
5: 100,124,392 (GRCm39) |
|
probably null |
Het |
| Homez |
T |
C |
14: 55,095,112 (GRCm39) |
S199G |
probably benign |
Het |
| Kit |
T |
C |
5: 75,767,941 (GRCm39) |
I108T |
probably damaging |
Het |
| Lrrc34 |
A |
C |
3: 30,688,705 (GRCm39) |
Y199D |
probably damaging |
Het |
| Mapk12 |
T |
C |
15: 89,017,350 (GRCm39) |
D208G |
probably damaging |
Het |
| Mon1a |
A |
G |
9: 107,778,985 (GRCm39) |
D403G |
probably damaging |
Het |
| Myo1d |
C |
T |
11: 80,565,460 (GRCm39) |
E426K |
probably damaging |
Het |
| Nol11 |
G |
A |
11: 107,070,878 (GRCm39) |
T307I |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,444 (GRCm39) |
C208R |
probably damaging |
Het |
| Or52b4 |
A |
T |
7: 102,184,172 (GRCm39) |
I73F |
possibly damaging |
Het |
| Or5aq1b |
A |
G |
2: 86,902,083 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or6d15 |
A |
T |
6: 116,559,314 (GRCm39) |
F198I |
probably damaging |
Het |
| Or8k28 |
A |
T |
2: 86,285,835 (GRCm39) |
L260* |
probably null |
Het |
| Pcdhb16 |
C |
T |
18: 37,611,516 (GRCm39) |
Q159* |
probably null |
Het |
| Phf19 |
G |
A |
2: 34,788,724 (GRCm39) |
|
probably null |
Het |
| Qrfpr |
C |
T |
3: 36,234,198 (GRCm39) |
R381H |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,506,366 (GRCm39) |
D96G |
probably benign |
Het |
| Ranbp1 |
T |
C |
16: 18,063,097 (GRCm39) |
D93G |
possibly damaging |
Het |
| Reep1 |
A |
G |
6: 71,757,749 (GRCm39) |
D116G |
possibly damaging |
Het |
| Rinl |
T |
C |
7: 28,496,101 (GRCm39) |
C361R |
probably damaging |
Het |
| Rps6kb1 |
T |
C |
11: 86,397,666 (GRCm39) |
D393G |
probably damaging |
Het |
| Slc2a12 |
T |
C |
10: 22,541,216 (GRCm39) |
V357A |
probably benign |
Het |
| Spryd3 |
T |
C |
15: 102,026,627 (GRCm39) |
D348G |
probably benign |
Het |
| Syne2 |
G |
A |
12: 76,099,501 (GRCm39) |
A569T |
probably benign |
Het |
| Tcstv5 |
T |
C |
13: 120,411,270 (GRCm39) |
D112G |
probably benign |
Het |
| Thoc6 |
C |
T |
17: 23,892,503 (GRCm39) |
R6Q |
probably null |
Het |
| Tyw3 |
G |
C |
3: 154,299,426 (GRCm39) |
S94R |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,171,926 (GRCm39) |
T918I |
unknown |
Het |
| Unc80 |
A |
T |
1: 66,685,680 (GRCm39) |
H2268L |
possibly damaging |
Het |
| Urod |
C |
T |
4: 116,849,838 (GRCm39) |
A187T |
probably damaging |
Het |
| Usp46 |
G |
T |
5: 74,177,344 (GRCm39) |
N205K |
probably benign |
Het |
| Wapl |
T |
C |
14: 34,414,313 (GRCm39) |
F392L |
probably benign |
Het |
| Zim1 |
T |
C |
7: 6,680,305 (GRCm39) |
T453A |
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 |
|
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 |
|
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'- GATGTCCAGCACACCATTGAC -3'
(R):5'- TAGAACTGGTACTGCTCAATGGG -3'
Sequencing Primer
(F):5'- GATGTCCAGCACACCATTGACAATAG -3'
(R):5'- TACTGCTCAATGGGTCTGGCC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation