Incidental Mutation 'R4125:Bmpr1a'
| ID |
368206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmpr1a
|
| Ensembl Gene |
ENSMUSG00000021796 |
| Gene Name |
bone morphogenetic protein receptor, type 1A |
| Synonyms |
1110037I22Rik, BMPR-IA, Bmpr, ALK3 |
| MMRRC Submission |
041633-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4125 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
34133018-34225335 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34156690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 112
(D112G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126852
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049005]
[ENSMUST00000165280]
[ENSMUST00000171343]
|
| AlphaFold |
P36895 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049005
AA Change: D112G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000035900
Gene: ENSMUSG00000021796
AA Change: D112G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
59 |
138 |
4.6e-14 |
PFAM |
|
transmembrane domain
|
153 |
175 |
N/A |
INTRINSIC |
|
GS
|
204 |
234 |
7.44e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165280
AA Change: D112G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000131984
Gene: ENSMUSG00000021796
AA Change: D112G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
59 |
138 |
1.3e-14 |
PFAM |
|
transmembrane domain
|
153 |
175 |
N/A |
INTRINSIC |
|
GS
|
204 |
234 |
7.44e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171343
AA Change: D112G
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126852
Gene: ENSMUSG00000021796
AA Change: D112G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Activin_recp
|
59 |
138 |
2e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.1529 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die by embryonic day 9.5, are smaller than normal, and form no mesoderm; a conditional knockout resulted in gross malformations of the limbs with complete agenesis of the hindlimb. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
T |
A |
3: 98,068,679 (GRCm39) |
C43S |
probably damaging |
Het |
| Adamts6 |
A |
T |
13: 104,449,412 (GRCm39) |
Y274F |
probably damaging |
Het |
| Ap2b1 |
A |
G |
11: 83,256,471 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
C |
9: 53,361,921 (GRCm39) |
L2732R |
probably damaging |
Het |
| Bbox1 |
A |
G |
2: 110,100,525 (GRCm39) |
V224A |
probably benign |
Het |
| Cdk19 |
A |
G |
10: 40,270,391 (GRCm39) |
I67V |
probably benign |
Het |
| Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,777,912 (GRCm39) |
D2641G |
probably damaging |
Het |
| Chn2 |
G |
T |
6: 54,249,963 (GRCm39) |
R24M |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,088,613 (GRCm39) |
I121V |
probably null |
Het |
| Ctsr |
A |
T |
13: 61,309,659 (GRCm39) |
D183E |
probably benign |
Het |
| Elp3 |
T |
C |
14: 65,797,630 (GRCm39) |
E347G |
possibly damaging |
Het |
| Fhip1a |
A |
G |
3: 85,572,690 (GRCm39) |
S988P |
possibly damaging |
Het |
| Gnas |
A |
G |
2: 174,141,958 (GRCm39) |
N709S |
possibly damaging |
Het |
| Gramd2b |
T |
C |
18: 56,618,296 (GRCm39) |
S199P |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,246,622 (GRCm39) |
C1562* |
probably null |
Het |
| Ifit1bl1 |
T |
A |
19: 34,572,188 (GRCm39) |
I90F |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,921,141 (GRCm39) |
H1313Q |
possibly damaging |
Het |
| Ighj4 |
T |
C |
12: 113,392,176 (GRCm39) |
|
probably benign |
Het |
| Kansl2 |
G |
T |
15: 98,429,636 (GRCm39) |
P132Q |
possibly damaging |
Het |
| Lman1 |
T |
C |
18: 66,120,932 (GRCm39) |
H430R |
possibly damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,699,686 (GRCm39) |
I2511T |
probably benign |
Het |
| Lvrn |
C |
A |
18: 47,010,036 (GRCm39) |
P395T |
possibly damaging |
Het |
| Myrip |
C |
A |
9: 120,293,764 (GRCm39) |
S753* |
probably null |
Het |
| Nectin4 |
A |
G |
1: 171,213,301 (GRCm39) |
S408G |
probably benign |
Het |
| Or14j8 |
A |
G |
17: 38,263,681 (GRCm39) |
I78T |
probably benign |
Het |
| Or52ae9 |
T |
C |
7: 103,390,207 (GRCm39) |
K80R |
probably benign |
Het |
| Pcdhb13 |
T |
C |
18: 37,576,873 (GRCm39) |
I417T |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,357,172 (GRCm39) |
T664A |
possibly damaging |
Het |
| Plec |
A |
T |
15: 76,056,962 (GRCm39) |
L4347Q |
probably damaging |
Het |
| Poln |
A |
G |
5: 34,261,295 (GRCm39) |
S561P |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,942,690 (GRCm39) |
F1177L |
probably benign |
Het |
| Pramel24 |
C |
T |
4: 143,452,850 (GRCm39) |
R94* |
probably null |
Het |
| Ptprb |
A |
T |
10: 116,189,754 (GRCm39) |
R1804S |
probably benign |
Het |
| Rhof |
C |
T |
5: 123,257,588 (GRCm39) |
V181M |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc22a12 |
T |
C |
19: 6,588,818 (GRCm39) |
E281G |
probably damaging |
Het |
| Slco6b1 |
T |
A |
1: 96,915,622 (GRCm39) |
|
noncoding transcript |
Het |
| Stac |
C |
A |
9: 111,433,126 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
C |
A |
18: 60,952,673 (GRCm39) |
A898S |
unknown |
Het |
| Tep1 |
C |
T |
14: 51,081,191 (GRCm39) |
R1349Q |
possibly damaging |
Het |
| Thoc6 |
A |
T |
17: 23,888,319 (GRCm39) |
|
probably benign |
Het |
| Tmem179 |
A |
T |
12: 112,477,461 (GRCm39) |
F8I |
possibly damaging |
Het |
| Tnpo3 |
A |
G |
6: 29,560,091 (GRCm39) |
L684P |
probably damaging |
Het |
| Ubash3a |
T |
C |
17: 31,456,249 (GRCm39) |
Y506H |
probably damaging |
Het |
| Umps |
G |
A |
16: 33,777,288 (GRCm39) |
Q431* |
probably null |
Het |
| Unc13c |
A |
G |
9: 73,481,289 (GRCm39) |
|
probably null |
Het |
| Vmn1r210 |
A |
T |
13: 23,011,779 (GRCm39) |
M169K |
probably benign |
Het |
| Zfp946 |
C |
T |
17: 22,673,548 (GRCm39) |
Q101* |
probably null |
Het |
|
| Other mutations in Bmpr1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00574:Bmpr1a
|
APN |
14 |
34,156,376 (GRCm39) |
missense |
probably benign |
|
|
IGL03100:Bmpr1a
|
APN |
14 |
34,163,164 (GRCm39) |
unclassified |
probably benign |
|
|
R0329:Bmpr1a
|
UTSW |
14 |
34,151,734 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0330:Bmpr1a
|
UTSW |
14 |
34,151,734 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0411:Bmpr1a
|
UTSW |
14 |
34,137,834 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0537:Bmpr1a
|
UTSW |
14 |
34,165,769 (GRCm39) |
unclassified |
probably benign |
|
|
R1707:Bmpr1a
|
UTSW |
14 |
34,147,098 (GRCm39) |
splice site |
probably benign |
|
|
R1767:Bmpr1a
|
UTSW |
14 |
34,169,727 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1992:Bmpr1a
|
UTSW |
14 |
34,147,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3757:Bmpr1a
|
UTSW |
14 |
34,156,624 (GRCm39) |
nonsense |
probably null |
|
|
R5320:Bmpr1a
|
UTSW |
14 |
34,146,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6956:Bmpr1a
|
UTSW |
14 |
34,163,132 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7254:Bmpr1a
|
UTSW |
14 |
34,136,720 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7267:Bmpr1a
|
UTSW |
14 |
34,165,836 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7270:Bmpr1a
|
UTSW |
14 |
34,163,082 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8166:Bmpr1a
|
UTSW |
14 |
34,147,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8348:Bmpr1a
|
UTSW |
14 |
34,136,759 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8448:Bmpr1a
|
UTSW |
14 |
34,136,759 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8948:Bmpr1a
|
UTSW |
14 |
34,163,148 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8950:Bmpr1a
|
UTSW |
14 |
34,163,148 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9246:Bmpr1a
|
UTSW |
14 |
34,156,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9362:Bmpr1a
|
UTSW |
14 |
34,156,360 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9647:Bmpr1a
|
UTSW |
14 |
34,136,694 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGAATTCTAGGTAGTATGGCTATTG -3'
(R):5'- AATCACCAAAGTTCTTCATTCCTTT -3'
Sequencing Primer
(F):5'- AGGTAGTATGGCTATTGTTACAGAC -3'
(R):5'- GGAACAAGGTTTCTCTATGTAGCCC -3'
|
| Posted On |
2015-12-30 |
Incidental Mutation