Mutagenetix > Incidental Mutation

Incidental Mutation 'R6041:Bmp10'

483542

Institutional Source

Beutler Lab

Gene Symbol

Bmp10

Ensembl Gene

ENSMUSG00000030046

Gene Name

bone morphogenetic protein 10

Synonyms

b2b2711Clo

MMRRC Submission

044209-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6041 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87405976-87411494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87411302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 365 (K365R)

Ref Sequence

ENSEMBL: ENSMUSP00000032125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032125]

AlphaFold

Q9R229

Predicted Effect

probably damaging
Transcript: ENSMUST00000032125
AA Change: K365R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032125
Gene: ENSMUSG00000030046
AA Change: K365R

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TGFb_propeptide	52	256	8.1e-24	PFAM
TGFB	320	420	6.7e-52	SMART

Meta Mutation Damage Score

0.5757

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.1%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which binds to the activin receptor-like kinase 1 (ALK1) and plays important roles in cardiovascular development including cardiomyocyte proliferation and regulation of heart size, closure of the ductus arteriosus, angiogenesis and ventricular trabeculation. Homozygous knockout mice for this gene exhibit impaired heart development and embryonic lethality. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mice display decreased embryo size, cardiac dysgenesis, defects in early embryonic vascular development, enlarged pericardium, arteriovenous malformations, and embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,595,354 (GRCm39)	M297K	probably damaging	Het
Ace	A	C	11: 105,866,134 (GRCm39)	H34P	probably benign	Het
Agbl2	A	T	2: 90,638,371 (GRCm39)	N652I	probably benign	Het
Auh	T	A	13: 53,073,122 (GRCm39)	L86F	possibly damaging	Het
Cacna1d	A	T	14: 29,764,314 (GRCm39)	S2086T	probably damaging	Het
Calcoco1	C	A	15: 102,626,374 (GRCm39)	R105L	possibly damaging	Het
Casc3	T	G	11: 98,719,385 (GRCm39)	V509G	probably damaging	Het
Clmn	A	G	12: 104,748,131 (GRCm39)	V472A	probably benign	Het
Cyp2b19	A	T	7: 26,458,852 (GRCm39)	S142C	probably damaging	Het
Derl3	T	C	10: 75,729,335 (GRCm39)	L26P	probably damaging	Het
Dgkh	C	T	14: 78,825,067 (GRCm39)	A863T	probably damaging	Het
Dhx30	C	T	9: 109,913,666 (GRCm39)	R1127Q	probably benign	Het
Dmxl2	A	G	9: 54,324,037 (GRCm39)	S1116P	probably damaging	Het
Dnah7b	T	C	1: 46,328,805 (GRCm39)	V3179A	probably benign	Het
Dnajb11	A	T	16: 22,687,471 (GRCm39)	N156I	probably benign	Het
Dpep1	A	T	8: 123,927,394 (GRCm39)	E316V	probably damaging	Het
Entrep1	A	T	19: 23,962,193 (GRCm39)	M270K	probably benign	Het
F2rl2	T	A	13: 95,837,617 (GRCm39)	F221I	probably benign	Het
Flg2	T	A	3: 93,127,668 (GRCm39)	D173E	probably benign	Het
Fshr	A	T	17: 89,293,414 (GRCm39)	D421E	probably damaging	Het
Gfm2	T	A	13: 97,309,131 (GRCm39)	V612E	probably benign	Het
Gm17655	T	G	5: 110,195,439 (GRCm39)	K114N	possibly damaging	Het
Gm45844	C	A	7: 7,281,183 (GRCm39)		probably benign	Het
Gpr142	A	T	11: 114,697,203 (GRCm39)	I250F	probably damaging	Het
Hexa	A	G	9: 59,470,519 (GRCm39)	Q447R	probably damaging	Het
Leng8	T	C	7: 4,148,568 (GRCm39)	L780P	probably benign	Het
Lrrk1	T	C	7: 65,911,881 (GRCm39)	D1893G	probably benign	Het
Macf1	T	A	4: 123,407,641 (GRCm39)	I139F	probably damaging	Het
Megf10	A	T	18: 57,313,621 (GRCm39)	T22S	probably benign	Het
Mup-ps1	C	A	4: 60,088,549 (GRCm39)		noncoding transcript	Het
Myh13	A	T	11: 67,255,556 (GRCm39)	E1642V	probably damaging	Het
Myof	A	G	19: 37,913,068 (GRCm39)	Y1462H	probably damaging	Het
Nipbl	T	A	15: 8,353,748 (GRCm39)	D1765V	probably damaging	Het
Npy5r	A	T	8: 67,134,675 (GRCm39)	N39K	possibly damaging	Het
Or5m13b	G	A	2: 85,753,735 (GRCm39)	G41D	probably damaging	Het
Pax6	A	G	2: 105,514,247 (GRCm39)	I29V	probably damaging	Het
Pi4ka	A	G	16: 17,178,436 (GRCm39)	Y307H	probably benign	Het
Pmf1	A	C	3: 88,303,358 (GRCm39)	Y68D	probably damaging	Het
Psen2	C	A	1: 180,073,292 (GRCm39)	E10*	probably null	Het
Ptprs	T	A	17: 56,726,080 (GRCm39)	M991L	probably benign	Het
R3hdm4	A	G	10: 79,749,495 (GRCm39)	V20A	possibly damaging	Het
Rad17	T	C	13: 100,754,274 (GRCm39)	N649D	probably benign	Het
Rad9b	A	T	5: 122,489,415 (GRCm39)	C38S	probably damaging	Het
Rapgef2	T	C	3: 78,976,469 (GRCm39)	M1296V	probably benign	Het
Rbp3	T	C	14: 33,678,439 (GRCm39)	S796P	probably damaging	Het
Rpl10-ps3	A	G	9: 50,256,082 (GRCm39)	S54P	probably benign	Het
Sclt1	T	A	3: 41,581,612 (GRCm39)	I688F	probably damaging	Het
Scn10a	A	G	9: 119,438,535 (GRCm39)	I1778T	probably damaging	Het
Scrib	C	T	15: 75,939,021 (GRCm39)	R159Q	possibly damaging	Het
Senp1	C	T	15: 97,956,097 (GRCm39)	E441K	probably damaging	Het
Sipa1l1	T	A	12: 82,389,024 (GRCm39)	F417I	probably damaging	Het
Slco1a7	A	C	6: 141,684,764 (GRCm39)	D230E	probably benign	Het
Smcr8	A	G	11: 60,670,394 (GRCm39)	D514G	probably damaging	Het
Tbc1d23	T	G	16: 56,993,513 (GRCm39)	D551A	probably benign	Het
Tet1	G	T	10: 62,649,152 (GRCm39)	T149N	probably damaging	Het
Them4	A	T	3: 94,224,806 (GRCm39)	D61V	possibly damaging	Het
Trak1	A	T	9: 121,289,478 (GRCm39)	I597F	probably damaging	Het
Trank1	A	G	9: 111,206,864 (GRCm39)	I1666V	possibly damaging	Het
Vipr2	A	C	12: 116,106,604 (GRCm39)	N378T	probably damaging	Het
Zfp804b	T	C	5: 6,821,231 (GRCm39)	R575G	probably benign	Het
Zfp941	A	T	7: 140,392,158 (GRCm39)	C400*	probably null	Het
Zswim5	A	C	4: 116,819,818 (GRCm39)	S408R	probably benign	Het

Other mutations in Bmp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Bmp10	APN	6	87,406,142 (GRCm39)	missense	possibly damaging	0.87
IGL00946:Bmp10	APN	6	87,411,344 (GRCm39)	missense	probably damaging	1.00
IGL01483:Bmp10	APN	6	87,410,933 (GRCm39)	missense	probably damaging	1.00
IGL02132:Bmp10	APN	6	87,411,130 (GRCm39)	missense	probably benign
R1391:Bmp10	UTSW	6	87,410,740 (GRCm39)	missense	probably benign	0.00
R1472:Bmp10	UTSW	6	87,410,779 (GRCm39)	missense	probably benign	0.34
R1938:Bmp10	UTSW	6	87,410,702 (GRCm39)	missense	possibly damaging	0.77
R2114:Bmp10	UTSW	6	87,411,441 (GRCm39)	missense	probably benign	0.10
R2158:Bmp10	UTSW	6	87,411,062 (GRCm39)	missense	probably benign	0.21
R4922:Bmp10	UTSW	6	87,410,557 (GRCm39)	missense	probably benign	0.00
R5042:Bmp10	UTSW	6	87,411,039 (GRCm39)	missense	probably damaging	0.98
R7000:Bmp10	UTSW	6	87,411,175 (GRCm39)	missense	probably benign	0.02
R7593:Bmp10	UTSW	6	87,410,651 (GRCm39)	missense	probably damaging	1.00
R8682:Bmp10	UTSW	6	87,410,541 (GRCm39)	critical splice acceptor site	probably null
R8844:Bmp10	UTSW	6	87,410,681 (GRCm39)	missense	probably damaging	1.00
R9378:Bmp10	UTSW	6	87,410,684 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- CTGCAGATGAGGTCGAACATG -3'
(R):5'- TAAATAAGCCATGGGACGCC -3'

Sequencing Primer
(F):5'- CGAACATGATTGATGATTCGTCCGC -3'
(R):5'- ATGGGACGCCTCTCCTC -3'

Posted On

2017-07-14