Mutagenetix > Incidental Mutation

Incidental Mutation 'R5587:Bmp2'

438796

Institutional Source

Beutler Lab

Gene Symbol

Bmp2

Ensembl Gene

ENSMUSG00000027358

Gene Name

bone morphogenetic protein 2

Synonyms

Bmp2a

MMRRC Submission

043141-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5587 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

133552159-133562885 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133554646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 74 (V74E)

Ref Sequence

ENSEMBL: ENSMUSP00000028836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028836]

AlphaFold

P21274

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028836
AA Change: V74E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028836
Gene: ENSMUSG00000027358
AA Change: V74E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:TGFb_propeptide	35	265	7.9e-55	PFAM
TGFB	294	394	9.33e-69	SMART

Meta Mutation Damage Score

0.4619

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

96% (78/81)

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 each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. While a homozygous knockout mouse for this gene exhibits embryonic lethality, conditional knockout mice have defects in bone, cartilage and heart development. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mutants die at embryonic day 7.5-9 with failure of the proamniotic canal to close and abnormal development of the heart in the exocoelomic cavity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,065,409	R120G	probably benign	Het
4930548H24Rik	G	T	5: 31,486,084	G53W	probably benign	Het
Acad11	A	G	9: 104,063,767	T3A	probably benign	Het
Adamts18	G	A	8: 113,775,360	Q290*	probably null	Het
Ahnak	A	G	19: 9,009,476	D2708G	possibly damaging	Het
Asxl3	T	A	18: 22,525,247	C2105S	probably benign	Het
Atp8b1	A	T	18: 64,539,210	F1028I	probably damaging	Het
Axdnd1	C	G	1: 156,351,412	W615C	probably damaging	Het
Bcl3	A	T	7: 19,809,634	Y10*	probably null	Het
Ccdc78	C	A	17: 25,786,677	P21Q	probably benign	Het
Cluap1	T	A	16: 3,915,484	V199E	probably damaging	Het
Cntnap3	T	C	13: 64,746,738	E1120G	probably damaging	Het
Col1a2	T	A	6: 4,540,531	W1330R	unknown	Het
Coq4	A	G	2: 29,795,514		probably null	Het
Cwf19l1	G	A	19: 44,120,877	T346I	possibly damaging	Het
Cyct	T	C	2: 76,354,203	Y68C	probably damaging	Het
Dnah10	T	C	5: 124,793,913	L2368P	probably benign	Het
Dnah2	A	T	11: 69,437,242	F3346I	probably damaging	Het
Dpp3	A	T	19: 4,918,267	V259E	probably damaging	Het
Dpyd	A	C	3: 119,064,951	S605R	probably damaging	Het
Emc1	A	G	4: 139,362,148	E209G	probably damaging	Het
Esrra	A	G	19: 6,920,207	S61P	probably benign	Het
Fam71d	C	A	12: 78,715,075	P171H	probably damaging	Het
Gbx2	T	A	1: 89,933,122		probably benign	Het
Hepacam	A	G	9: 37,384,684	H377R	probably damaging	Het
Igkv12-46	T	C	6: 69,764,550	Y107C	probably damaging	Het
Intu	A	G	3: 40,675,308	D356G	probably damaging	Het
Izumo4	A	T	10: 80,703,220	N113Y	probably damaging	Het
Krt86	G	A	15: 101,473,593	A15T	probably benign	Het
Lhx8	A	T	3: 154,311,679	S275R	probably damaging	Het
Lingo3	A	T	10: 80,835,530	S189T	probably damaging	Het
Llgl1	T	A	11: 60,710,342	M702K	probably benign	Het
Lpin1	T	C	12: 16,573,714	Y223C		Het
Lrit3	G	T	3: 129,788,898	A359E	probably benign	Het
Lrp2	T	C	2: 69,499,263	E1720G	probably benign	Het
Mcub	A	C	3: 129,916,970	V271G	probably benign	Het
Nktr	C	T	9: 121,748,489		probably benign	Het
Olfr1342	T	A	4: 118,689,870	D194V	probably damaging	Het
Olfr1502	G	A	19: 13,862,576	R261H	probably damaging	Het
Olfr347	A	T	2: 36,734,621	Q100L	probably damaging	Het
Olfr617	T	A	7: 103,584,531	Y170N	probably benign	Het
Olfr979	A	T	9: 40,000,621	I202N	possibly damaging	Het
Olfr984	A	T	9: 40,101,244	L82Q	probably damaging	Het
Pcdha4	T	C	18: 36,954,822	V686A	probably benign	Het
Pelo	A	G	13: 115,089,873	V16A	possibly damaging	Het
Plcd1	A	G	9: 119,073,832	S539P	probably benign	Het
Prss1	A	G	6: 41,463,265	I179V	possibly damaging	Het
Ptgs2	T	C	1: 150,105,555	Y530H	probably damaging	Het
Rai1	T	C	11: 60,189,859	V1583A	probably damaging	Het
Raph1	T	G	1: 60,498,473	D508A	probably damaging	Het
Rmnd5a	A	G	6: 71,394,619		probably benign	Het
Rsf1	T	C	7: 97,662,121	L686P	probably benign	Het
Samd9l	T	C	6: 3,373,291	I1323M	possibly damaging	Het
Scn1a	T	C	2: 66,273,081	N1934S	probably benign	Het
Sec23ip	C	T	7: 128,750,427	H176Y	probably benign	Het
Sh3glb2	A	G	2: 30,354,851		probably null	Het
Sis	A	G	3: 72,914,576	I1384T	possibly damaging	Het
Spata31d1a	A	C	13: 59,702,618	C565W	probably damaging	Het
Srbd1	T	A	17: 86,127,801	Q278L	probably damaging	Het
Sry	T	C	Y: 2,662,625	H345R	unknown	Het
Suox	A	T	10: 128,671,825	D111E	probably damaging	Het
Taar7a	A	T	10: 23,992,828	F218L	probably benign	Het
Tfcp2l1	C	A	1: 118,664,762	N288K	possibly damaging	Het
Tmem128	G	T	5: 38,260,421	R7L	possibly damaging	Het
Tmem266	A	G	9: 55,437,566	N494S	probably damaging	Het
Tmprss3	T	A	17: 31,193,992	H80L	probably benign	Het
Tnrc6c	C	T	11: 117,749,271	Q1211*	probably null	Het
Tns1	T	A	1: 73,920,596	D1671V	possibly damaging	Het
Trmt1l	T	A	1: 151,435,704		probably benign	Het
Tshz2	A	T	2: 169,884,342	D286V	probably damaging	Het
Ttyh2	A	G	11: 114,675,659	E39G	probably benign	Het
Vmn2r125	G	A	4: 156,350,138	C73Y	probably damaging	Het
Vmn2r5	T	C	3: 64,504,076	D357G	probably damaging	Het
Vmn2r61	T	C	7: 42,300,487	F777S	probably damaging	Het
Vmn2r9	T	C	5: 108,847,561	E407G	probably damaging	Het
Vwa3a	A	G	7: 120,780,235	N521S	probably damaging	Het
Zan	C	G	5: 137,391,762	S4816T	unknown	Het
Zc3h7b	T	C	15: 81,771,858	Y136H	possibly damaging	Het
Zfp101	T	C	17: 33,381,321	K487R	possibly damaging	Het

Other mutations in Bmp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Bmp2	APN	2	133,561,027 (GRCm38)	missense	probably benign
IGL01146:Bmp2	APN	2	133,561,300 (GRCm38)	missense	probably benign	0.12
IGL01933:Bmp2	APN	2	133,554,658 (GRCm38)	missense	possibly damaging	0.90
IGL02008:Bmp2	APN	2	133,560,966 (GRCm38)	missense	probably damaging	0.99
IGL02047:Bmp2	APN	2	133,560,976 (GRCm38)	missense	probably damaging	1.00
IGL02065:Bmp2	APN	2	133,560,924 (GRCm38)	missense	probably benign	0.17
IGL02703:Bmp2	APN	2	133,561,404 (GRCm38)	missense	probably benign
R1136:Bmp2	UTSW	2	133,560,927 (GRCm38)	missense	probably damaging	1.00
R1184:Bmp2	UTSW	2	133,561,468 (GRCm38)	missense	probably damaging	1.00
R2032:Bmp2	UTSW	2	133,561,296 (GRCm38)	missense	probably benign	0.00
R3683:Bmp2	UTSW	2	133,554,472 (GRCm38)	missense	probably benign	0.03
R4468:Bmp2	UTSW	2	133,554,454 (GRCm38)	missense	probably benign
R5211:Bmp2	UTSW	2	133,554,630 (GRCm38)	missense	probably damaging	0.99
R5324:Bmp2	UTSW	2	133,561,359 (GRCm38)	nonsense	probably null
R7040:Bmp2	UTSW	2	133,561,684 (GRCm38)	missense	probably damaging	1.00
R7574:Bmp2	UTSW	2	133,560,897 (GRCm38)	missense	probably benign
R7965:Bmp2	UTSW	2	133,561,185 (GRCm38)	missense	probably benign	0.01
R8537:Bmp2	UTSW	2	133,561,282 (GRCm38)	missense	probably damaging	0.99
R8805:Bmp2	UTSW	2	133,561,334 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGTGTTGCTGCTTCCCCAG -3'
(R):5'- GAAAGGCCTTCTACTGTGCTAGTG -3'

Sequencing Primer
(F):5'- GCTGCTTCCCCAGGTCCTC -3'
(R):5'- CTACTGTGCTAGTGGAGGCC -3'

Posted On

2016-10-26