Incidental Mutation 'R8419:Bmpr2'
| ID |
653068 |
| 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 |
067772-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8419 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
59802721-59917240 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 59906515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 536
(R536H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087435]
|
| AlphaFold |
O35607 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087435
AA Change: R536H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000084701
Gene: ENSMUSG00000067336
AA Change: R536H
| 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: 98.5%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
A |
T |
11: 48,910,312 (GRCm39) |
I707N |
probably damaging |
Het |
| Abca14 |
A |
G |
7: 119,815,489 (GRCm39) |
I246V |
probably benign |
Het |
| Adam19 |
G |
A |
11: 46,015,850 (GRCm39) |
A337T |
possibly damaging |
Het |
| Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
| Arhgap5 |
G |
A |
12: 52,565,572 (GRCm39) |
V848I |
probably damaging |
Het |
| Casz1 |
T |
A |
4: 149,033,040 (GRCm39) |
S1310T |
probably benign |
Het |
| Chi3l1 |
A |
T |
1: 134,117,280 (GRCm39) |
D367V |
probably damaging |
Het |
| Cltc |
A |
G |
11: 86,598,392 (GRCm39) |
V990A |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,729,935 (GRCm39) |
S1790R |
probably damaging |
Het |
| Comt |
C |
T |
16: 18,230,637 (GRCm39) |
W24* |
probably null |
Het |
| Cyp2c70 |
T |
C |
19: 40,149,024 (GRCm39) |
E374G |
possibly damaging |
Het |
| Dach1 |
T |
C |
14: 98,406,076 (GRCm39) |
T224A |
probably damaging |
Het |
| Dapk1 |
G |
A |
13: 60,887,911 (GRCm39) |
E656K |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,668,936 (GRCm39) |
S1249P |
probably benign |
Het |
| Dpp8 |
A |
C |
9: 64,988,037 (GRCm39) |
I861L |
probably benign |
Het |
| Enam |
C |
T |
5: 88,651,209 (GRCm39) |
S906L |
possibly damaging |
Het |
| Eral1 |
A |
T |
11: 77,964,906 (GRCm39) |
I429N |
possibly damaging |
Het |
| Fbxo10 |
C |
A |
4: 45,041,809 (GRCm39) |
G807C |
possibly damaging |
Het |
| Fcgbpl1 |
G |
T |
7: 27,843,346 (GRCm39) |
G745C |
probably damaging |
Het |
| Fsip2 |
G |
C |
2: 82,808,963 (GRCm39) |
E1761Q |
probably damaging |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gm4353 |
G |
A |
7: 115,682,784 (GRCm39) |
P266S |
probably benign |
Het |
| Gpr84 |
T |
C |
15: 103,217,963 (GRCm39) |
N38S |
probably damaging |
Het |
| Guca1a |
A |
T |
17: 47,706,480 (GRCm39) |
I115N |
probably damaging |
Het |
| Hic1 |
C |
T |
11: 75,057,096 (GRCm39) |
V598M |
possibly damaging |
Het |
| Itga1 |
A |
T |
13: 115,143,604 (GRCm39) |
I309N |
probably damaging |
Het |
| Itga11 |
T |
C |
9: 62,662,460 (GRCm39) |
S478P |
possibly damaging |
Het |
| Kctd8 |
T |
C |
5: 69,497,713 (GRCm39) |
D311G |
probably damaging |
Het |
| Klhl32 |
T |
C |
4: 24,682,203 (GRCm39) |
E127G |
possibly damaging |
Het |
| Lama2 |
T |
A |
10: 27,298,559 (GRCm39) |
Y179F |
probably benign |
Het |
| Lamb2 |
G |
T |
9: 108,365,563 (GRCm39) |
R1382L |
probably benign |
Het |
| Mrpl1 |
C |
G |
5: 96,374,226 (GRCm39) |
A167G |
probably benign |
Het |
| Muc17 |
A |
T |
5: 137,175,570 (GRCm39) |
N33K |
|
Het |
| Myt1 |
A |
T |
2: 181,424,399 (GRCm39) |
R31* |
probably null |
Het |
| Nectin2 |
T |
C |
7: 19,451,646 (GRCm39) |
T463A |
probably benign |
Het |
| Nectin2 |
A |
T |
7: 19,472,003 (GRCm39) |
Y129N |
probably damaging |
Het |
| Or12d13 |
A |
G |
17: 37,647,466 (GRCm39) |
I219T |
possibly damaging |
Het |
| Or4k47 |
A |
T |
2: 111,451,849 (GRCm39) |
M190K |
probably benign |
Het |
| Papolb |
T |
A |
5: 142,514,296 (GRCm39) |
N449I |
possibly damaging |
Het |
| Parn |
T |
C |
16: 13,466,338 (GRCm39) |
K236R |
probably benign |
Het |
| Pramel22 |
A |
G |
4: 143,382,997 (GRCm39) |
I74T |
probably damaging |
Het |
| Prelid1 |
G |
A |
13: 55,470,698 (GRCm39) |
R42Q |
probably damaging |
Het |
| Prelp |
A |
G |
1: 133,843,020 (GRCm39) |
F42L |
probably benign |
Het |
| Pygo1 |
C |
T |
9: 72,852,380 (GRCm39) |
P189L |
probably damaging |
Het |
| Rimbp3 |
T |
A |
16: 17,030,886 (GRCm39) |
S1437T |
probably damaging |
Het |
| Slc37a2 |
T |
A |
9: 37,148,726 (GRCm39) |
D252V |
probably benign |
Het |
| Socs7 |
A |
G |
11: 97,254,165 (GRCm39) |
K233R |
probably benign |
Het |
| Spopfm2 |
T |
C |
3: 94,082,921 (GRCm39) |
I297V |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,137,637 (GRCm39) |
D476G |
possibly damaging |
Het |
| Tesmin |
A |
G |
19: 3,439,077 (GRCm39) |
D43G |
probably benign |
Het |
| Thap1 |
C |
A |
8: 26,648,502 (GRCm39) |
Y8* |
probably null |
Het |
| Tln1 |
A |
G |
4: 43,536,397 (GRCm39) |
L1965P |
probably damaging |
Het |
| Tmprss11d |
A |
G |
5: 86,457,165 (GRCm39) |
S303P |
probably damaging |
Het |
| Tomm40 |
C |
T |
7: 19,435,759 (GRCm39) |
V324M |
probably damaging |
Het |
| Vmn1r202 |
A |
T |
13: 22,685,985 (GRCm39) |
I144K |
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 |
|
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 |
|
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'- GAACCACAGAGAGTTTCACAGAATC -3'
(R):5'- CTAGGGATTCGAGCTTGTGC -3'
Sequencing Primer
(F):5'- ACAGTCTGAGTCTGATTCCTGAGAC -3'
(R):5'- GCTTGCTGTCGTTCATAATTAATTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation