Incidental Mutation 'R2299:Bmpr1b'
| ID |
245257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmpr1b
|
| Ensembl Gene |
ENSMUSG00000052430 |
| Gene Name |
bone morphogenetic protein receptor, type 1B |
| Synonyms |
Acvrlk6, Alk6, CFK-43a, BMPR-IB |
| MMRRC Submission |
040298-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.598)
|
| Stock # |
R2299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
141542897-141875186 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 141550963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 376
(R376L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029948]
[ENSMUST00000098568]
[ENSMUST00000106230]
[ENSMUST00000106232]
[ENSMUST00000131273]
|
| AlphaFold |
P36898 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029948
AA Change: R376L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029948
Gene: ENSMUSG00000052430
AA Change: R376L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
30 |
110 |
2.6e-15 |
PFAM |
|
transmembrane domain
|
127 |
149 |
N/A |
INTRINSIC |
|
GS
|
174 |
204 |
4.58e-13 |
SMART |
|
Blast:STYKc
|
210 |
491 |
1e-30 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098568
AA Change: R376L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096167
Gene: ENSMUSG00000052430
AA Change: R376L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
30 |
110 |
2.2e-15 |
PFAM |
|
transmembrane domain
|
127 |
149 |
N/A |
INTRINSIC |
|
GS
|
174 |
204 |
4.58e-13 |
SMART |
|
Blast:STYKc
|
210 |
491 |
1e-30 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106230
AA Change: R376L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101837
Gene: ENSMUSG00000052430
AA Change: R376L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
30 |
110 |
2.6e-15 |
PFAM |
|
transmembrane domain
|
127 |
149 |
N/A |
INTRINSIC |
|
GS
|
174 |
204 |
4.58e-13 |
SMART |
|
Blast:STYKc
|
210 |
491 |
1e-30 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106232
AA Change: R376L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101839
Gene: ENSMUSG00000052430
AA Change: R376L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
30 |
110 |
2.2e-15 |
PFAM |
|
transmembrane domain
|
127 |
149 |
N/A |
INTRINSIC |
|
GS
|
174 |
204 |
4.58e-13 |
SMART |
|
Blast:STYKc
|
210 |
491 |
1e-30 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131273
|
| SMART Domains |
Protein: ENSMUSP00000117478
Gene: ENSMUSG00000052430
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3EVS|C
|
13 |
47 |
1e-18 |
PDB |
|
SCOP:d1es7b_
|
28 |
47 |
2e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.6147 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (37/37) |
| 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 I receptor, 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 in skeletal and bone development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mutantions of this gene affect the shape of the distal limb skeleton resulting in brachydactyly or failure to generate digit cartilage. Furthermore, inactivation results in female sterility due to abnormal oestrus cyclicity as well as retinal abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,971,845 (GRCm39) |
N68S |
possibly damaging |
Het |
| 5031439G07Rik |
A |
C |
15: 84,837,486 (GRCm39) |
F276V |
possibly damaging |
Het |
| Abca12 |
C |
T |
1: 71,297,381 (GRCm39) |
V2370I |
probably damaging |
Het |
| Acsl3 |
T |
G |
1: 78,676,827 (GRCm39) |
C469W |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 95,665,204 (GRCm39) |
I372F |
possibly damaging |
Het |
| Ankrd42 |
A |
G |
7: 92,239,462 (GRCm39) |
I442T |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| C1qtnf6 |
T |
A |
15: 78,409,542 (GRCm39) |
T102S |
probably benign |
Het |
| Chordc1 |
T |
C |
9: 18,213,404 (GRCm39) |
L85P |
probably damaging |
Het |
| Clec2j |
T |
A |
6: 128,632,199 (GRCm39) |
|
noncoding transcript |
Het |
| Copa |
T |
C |
1: 171,949,292 (GRCm39) |
I1223T |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyfip2 |
T |
A |
11: 46,176,958 (GRCm39) |
E74V |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,473,207 (GRCm39) |
D760V |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,513,199 (GRCm39) |
L32P |
probably damaging |
Het |
| Galnt13 |
A |
T |
2: 54,950,595 (GRCm39) |
R425S |
possibly damaging |
Het |
| Gm4559 |
A |
T |
7: 141,827,572 (GRCm39) |
C177S |
unknown |
Het |
| H2bc9 |
A |
G |
13: 23,727,354 (GRCm39) |
S57P |
probably damaging |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Kansl1l |
T |
C |
1: 66,812,636 (GRCm39) |
D459G |
probably damaging |
Het |
| Limd1 |
A |
T |
9: 123,345,942 (GRCm39) |
K574* |
probably null |
Het |
| Mmrn1 |
A |
G |
6: 60,953,425 (GRCm39) |
K569E |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,700,789 (GRCm39) |
W95R |
probably damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,356,571 (GRCm39) |
M315V |
probably benign |
Het |
| Prss21 |
A |
G |
17: 24,088,563 (GRCm39) |
E176G |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,221,581 (GRCm39) |
I173T |
possibly damaging |
Het |
| Rit1 |
T |
A |
3: 88,633,377 (GRCm39) |
|
probably null |
Het |
| Rnf14 |
C |
T |
18: 38,441,138 (GRCm39) |
A176V |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,562,922 (GRCm39) |
V311E |
possibly damaging |
Het |
| Slc28a2 |
C |
T |
2: 122,272,259 (GRCm39) |
Q34* |
probably null |
Het |
| Spire1 |
A |
C |
18: 67,663,493 (GRCm39) |
L36R |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,080,258 (GRCm39) |
V463E |
probably damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,815,944 (GRCm39) |
L813S |
possibly damaging |
Het |
| Vmn1r174 |
A |
T |
7: 23,453,429 (GRCm39) |
I32F |
probably benign |
Het |
| Zbtb24 |
G |
A |
10: 41,340,577 (GRCm39) |
V536M |
probably damaging |
Het |
|
| Other mutations in Bmpr1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01022:Bmpr1b
|
APN |
3 |
141,577,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01394:Bmpr1b
|
APN |
3 |
141,568,742 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02078:Bmpr1b
|
APN |
3 |
141,576,498 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02315:Bmpr1b
|
APN |
3 |
141,563,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02600:Bmpr1b
|
APN |
3 |
141,546,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02709:Bmpr1b
|
APN |
3 |
141,562,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02972:Bmpr1b
|
APN |
3 |
141,576,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03305:Bmpr1b
|
APN |
3 |
141,548,785 (GRCm39) |
splice site |
probably benign |
|
|
PIT4366001:Bmpr1b
|
UTSW |
3 |
141,586,224 (GRCm39) |
missense |
probably benign |
|
|
R0026:Bmpr1b
|
UTSW |
3 |
141,576,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0026:Bmpr1b
|
UTSW |
3 |
141,576,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0242:Bmpr1b
|
UTSW |
3 |
141,546,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Bmpr1b
|
UTSW |
3 |
141,546,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0463:Bmpr1b
|
UTSW |
3 |
141,563,191 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0880:Bmpr1b
|
UTSW |
3 |
141,576,557 (GRCm39) |
nonsense |
probably null |
|
|
R1449:Bmpr1b
|
UTSW |
3 |
141,577,134 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1815:Bmpr1b
|
UTSW |
3 |
141,586,124 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1852:Bmpr1b
|
UTSW |
3 |
141,563,163 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1971:Bmpr1b
|
UTSW |
3 |
141,563,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Bmpr1b
|
UTSW |
3 |
141,576,568 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2912:Bmpr1b
|
UTSW |
3 |
141,586,139 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4899:Bmpr1b
|
UTSW |
3 |
141,546,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Bmpr1b
|
UTSW |
3 |
141,576,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Bmpr1b
|
UTSW |
3 |
141,550,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5331:Bmpr1b
|
UTSW |
3 |
141,562,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5607:Bmpr1b
|
UTSW |
3 |
141,563,283 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5608:Bmpr1b
|
UTSW |
3 |
141,563,283 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5829:Bmpr1b
|
UTSW |
3 |
141,550,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5855:Bmpr1b
|
UTSW |
3 |
141,577,146 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5933:Bmpr1b
|
UTSW |
3 |
141,577,128 (GRCm39) |
makesense |
probably null |
|
|
R6310:Bmpr1b
|
UTSW |
3 |
141,570,297 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6469:Bmpr1b
|
UTSW |
3 |
141,562,222 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6826:Bmpr1b
|
UTSW |
3 |
141,563,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7167:Bmpr1b
|
UTSW |
3 |
141,568,841 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7526:Bmpr1b
|
UTSW |
3 |
141,562,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8136:Bmpr1b
|
UTSW |
3 |
141,562,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8518:Bmpr1b
|
UTSW |
3 |
141,563,343 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8933:Bmpr1b
|
UTSW |
3 |
141,562,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8949:Bmpr1b
|
UTSW |
3 |
141,586,203 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9675:Bmpr1b
|
UTSW |
3 |
141,563,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Bmpr1b
|
UTSW |
3 |
141,548,715 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACGGATTTGCAAACATCTCCC -3'
(R):5'- ACACTTGGTCTGGATGTTTAATCTG -3'
Sequencing Primer
(F):5'- GGATTTGCAAACATCTCCCGTGAG -3'
(R):5'- AATCTGCGGAAGTTTAGCTTTTGAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation