Incidental Mutation 'IGL01394:Bmpr1b'
| ID |
79372 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bmpr1b
|
| Ensembl Gene |
ENSMUSG00000052430 |
| Gene Name |
bone morphogenetic protein receptor, type 1B |
| Synonyms |
Acvrlk6, Alk6, CFK-43a, BMPR-IB |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.598)
|
| Stock # |
IGL01394
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
141542897-141875186 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 141568742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029948]
[ENSMUST00000098568]
[ENSMUST00000106230]
[ENSMUST00000106232]
[ENSMUST00000131273]
|
| AlphaFold |
P36898 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029948
|
| SMART Domains |
Protein: ENSMUSP00000029948
Gene: ENSMUSG00000052430
| 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 null
Transcript: ENSMUST00000098568
|
| SMART Domains |
Protein: ENSMUSP00000096167
Gene: ENSMUSG00000052430
| 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 null
Transcript: ENSMUST00000106230
|
| SMART Domains |
Protein: ENSMUSP00000101837
Gene: ENSMUSG00000052430
| 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 null
Transcript: ENSMUST00000106232
|
| SMART Domains |
Protein: ENSMUSP00000101839
Gene: ENSMUSG00000052430
| 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 |
|
| 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 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
G |
A |
7: 130,747,960 (GRCm39) |
Q11* |
probably null |
Het |
| Acot5 |
T |
C |
12: 84,122,262 (GRCm39) |
I282T |
probably benign |
Het |
| Adcy2 |
A |
G |
13: 69,130,521 (GRCm39) |
V122A |
probably damaging |
Het |
| Aldh16a1 |
A |
C |
7: 44,794,937 (GRCm39) |
S511A |
probably benign |
Het |
| Arid3b |
T |
C |
9: 57,702,317 (GRCm39) |
E480G |
probably damaging |
Het |
| Baz2a |
T |
C |
10: 127,954,514 (GRCm39) |
V723A |
possibly damaging |
Het |
| Ccdc83 |
T |
C |
7: 89,873,209 (GRCm39) |
E382G |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,246,895 (GRCm39) |
Y349H |
probably damaging |
Het |
| Clpx |
T |
C |
9: 65,217,495 (GRCm39) |
V21A |
probably damaging |
Het |
| Clstn1 |
A |
G |
4: 149,719,239 (GRCm39) |
N356S |
possibly damaging |
Het |
| Ctnnd1 |
A |
G |
2: 84,435,600 (GRCm39) |
|
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,367,945 (GRCm39) |
N505S |
probably benign |
Het |
| Eaf2 |
G |
A |
16: 36,630,928 (GRCm39) |
P82S |
probably damaging |
Het |
| Fbxw26 |
T |
C |
9: 109,547,057 (GRCm39) |
Y456C |
probably benign |
Het |
| Foxred2 |
T |
C |
15: 77,839,820 (GRCm39) |
T157A |
probably benign |
Het |
| Fscb |
A |
T |
12: 64,520,578 (GRCm39) |
I296K |
possibly damaging |
Het |
| Gad1-ps |
A |
G |
10: 99,281,424 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
A |
G |
16: 36,751,926 (GRCm39) |
E3120G |
probably damaging |
Het |
| Ift140 |
A |
G |
17: 25,313,676 (GRCm39) |
D1369G |
probably benign |
Het |
| Kcnk13 |
T |
C |
12: 100,027,921 (GRCm39) |
V332A |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,664,983 (GRCm39) |
D661E |
probably null |
Het |
| Lum |
A |
T |
10: 97,404,834 (GRCm39) |
D243V |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,220,975 (GRCm39) |
T86A |
possibly damaging |
Het |
| Mpdz |
A |
T |
4: 81,210,728 (GRCm39) |
V1706D |
possibly damaging |
Het |
| Myrfl |
T |
C |
10: 116,658,592 (GRCm39) |
Q455R |
probably benign |
Het |
| Or6k2 |
T |
C |
1: 173,986,423 (GRCm39) |
F28S |
probably damaging |
Het |
| Or8c20 |
T |
A |
9: 38,261,101 (GRCm39) |
S241T |
possibly damaging |
Het |
| Papolg |
G |
A |
11: 23,817,235 (GRCm39) |
T654I |
probably benign |
Het |
| Pappa2 |
G |
A |
1: 158,592,674 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
C |
T |
17: 84,864,858 (GRCm39) |
T82I |
probably benign |
Het |
| Prrc2a |
A |
G |
17: 35,372,080 (GRCm39) |
V1773A |
probably benign |
Het |
| Psmb8 |
G |
T |
17: 34,419,703 (GRCm39) |
V186L |
probably damaging |
Het |
| Rin3 |
T |
C |
12: 102,339,862 (GRCm39) |
V604A |
probably damaging |
Het |
| Rtn1 |
T |
C |
12: 72,355,190 (GRCm39) |
D252G |
probably benign |
Het |
| Sdk1 |
C |
T |
5: 141,598,970 (GRCm39) |
H212Y |
probably benign |
Het |
| Slc5a5 |
G |
T |
8: 71,342,032 (GRCm39) |
Y307* |
probably null |
Het |
| Slc9a9 |
T |
A |
9: 95,005,090 (GRCm39) |
L499Q |
probably benign |
Het |
| Snx8 |
C |
A |
5: 140,337,934 (GRCm39) |
G237V |
probably benign |
Het |
| Spata18 |
T |
A |
5: 73,836,688 (GRCm39) |
|
probably null |
Het |
| Stard9 |
A |
G |
2: 120,536,808 (GRCm39) |
E417G |
possibly damaging |
Het |
| Ubr5 |
T |
C |
15: 38,009,875 (GRCm39) |
D1034G |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 6,045,024 (GRCm39) |
|
probably null |
Het |
| Xrcc6 |
A |
G |
15: 81,909,862 (GRCm39) |
K89R |
possibly damaging |
Het |
| Yeats2 |
T |
C |
16: 19,980,782 (GRCm39) |
V237A |
probably damaging |
Het |
| Zdhhc6 |
A |
G |
19: 55,298,324 (GRCm39) |
W178R |
probably benign |
Het |
| Zfp280b |
C |
A |
10: 75,875,497 (GRCm39) |
Q459K |
probably damaging |
Het |
| Zfp811 |
C |
A |
17: 33,016,794 (GRCm39) |
K414N |
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 |
|
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 |
|
R2299:Bmpr1b
|
UTSW |
3 |
141,550,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation