Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01933:Bmp2'

180486

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bmp2

Ensembl Gene

ENSMUSG00000027358

Gene Name

bone morphogenetic protein 2

Synonyms

Bmp2a

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01933

Quality Score

Status

Chromosome

Chromosomal Location

133394079-133404805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133396578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 78 (M78K)

Ref Sequence

ENSEMBL: ENSMUSP00000028836 (fasta)

Gene Model

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

AlphaFold

P21274

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028836
AA Change: M78K

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028836
Gene: ENSMUSG00000027358
AA Change: M78K

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

Coding Region Coverage

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,164,650 (GRCm39)	V575F	possibly damaging	Het
Abca2	T	A	2: 25,334,123 (GRCm39)	V1800E	probably damaging	Het
Acacb	C	T	5: 114,322,251 (GRCm39)		probably benign	Het
Adam34	C	A	8: 44,104,569 (GRCm39)	G359W	probably damaging	Het
Ankrd42	G	A	7: 92,254,493 (GRCm39)	T372I	probably benign	Het
Apc2	A	G	10: 80,147,574 (GRCm39)	D847G	probably damaging	Het
Arap3	T	A	18: 38,111,506 (GRCm39)	T1137S	possibly damaging	Het
Atp10b	A	C	11: 43,085,457 (GRCm39)	T279P	probably damaging	Het
Ccdc61	T	G	7: 18,626,483 (GRCm39)	M369L	probably benign	Het
Cep78	A	T	19: 15,933,304 (GRCm39)	I758N	probably benign	Het
Ces2a	A	G	8: 105,468,047 (GRCm39)	*526W	probably null	Het
Cgnl1	C	T	9: 71,552,765 (GRCm39)		probably benign	Het
Clec14a	A	G	12: 58,315,104 (GRCm39)	Y173H	probably damaging	Het
Cntn4	G	A	6: 106,671,345 (GRCm39)	S976N	probably damaging	Het
Col6a4	G	A	9: 105,937,313 (GRCm39)	T1401I	probably benign	Het
D5Ertd579e	T	C	5: 36,773,100 (GRCm39)	T432A	probably benign	Het
Dixdc1	G	A	9: 50,614,558 (GRCm39)	R163*	probably null	Het
Dmxl1	C	A	18: 50,010,852 (GRCm39)	T1003K	probably benign	Het
Dnah1	G	A	14: 31,032,872 (GRCm39)	R388W	probably benign	Het
Eci3	C	T	13: 35,132,772 (GRCm39)	A202T	probably damaging	Het
Egr2	T	C	10: 67,376,024 (GRCm39)	S220P	probably damaging	Het
Fntb	C	T	12: 76,966,880 (GRCm39)	P405S	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm26602	C	A	10: 79,746,955 (GRCm39)	R236L	probably benign	Het
Hao2	T	C	3: 98,787,648 (GRCm39)		probably benign	Het
Irgm2	A	T	11: 58,110,783 (GRCm39)	N170I	possibly damaging	Het
Klhl20	G	A	1: 160,934,357 (GRCm39)	R221W	probably damaging	Het
Kmt2b	A	G	7: 30,268,939 (GRCm39)		probably null	Het
Lrrc46	C	T	11: 96,926,354 (GRCm39)	E181K	probably benign	Het
Lztr1	T	A	16: 17,338,455 (GRCm39)	V226E	probably damaging	Het
Myh9	G	T	15: 77,665,418 (GRCm39)	D684E	probably benign	Het
Myo7a	T	C	7: 97,732,349 (GRCm39)	T713A	probably damaging	Het
Nrap	G	T	19: 56,377,250 (GRCm39)	N62K	probably damaging	Het
Or51a10	T	C	7: 103,699,021 (GRCm39)	Y180C	probably damaging	Het
Or5an1	A	T	19: 12,261,069 (GRCm39)	Y219F	probably damaging	Het
Osbp2	T	C	11: 3,662,016 (GRCm39)	D708G	probably damaging	Het
Pcnx2	G	A	8: 126,488,393 (GRCm39)	P1717L	probably damaging	Het
Pex1	A	G	5: 3,683,789 (GRCm39)	D1095G	probably damaging	Het
Ptpn3	T	C	4: 57,197,576 (GRCm39)	H771R	probably benign	Het
R3hcc1l	G	A	19: 42,551,389 (GRCm39)	A129T	probably damaging	Het
Rbm15	G	A	3: 107,238,419 (GRCm39)	R660W	probably damaging	Het
Recql	C	T	6: 142,310,364 (GRCm39)	V489M	probably benign	Het
Sash1	A	T	10: 8,626,897 (GRCm39)	S162R	probably damaging	Het
Sec11a	T	C	7: 80,584,810 (GRCm39)	I42M	probably benign	Het
Slc25a23	G	A	17: 57,359,813 (GRCm39)	Q61*	probably null	Het
Son	A	T	16: 91,454,903 (GRCm39)	M1217L	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Srgap2	T	C	1: 131,339,593 (GRCm39)	N123S	probably damaging	Het
Ssh1	T	C	5: 114,088,441 (GRCm39)		probably benign	Het
St13	T	C	15: 81,273,899 (GRCm39)		probably null	Het
St3gal3	A	T	4: 117,889,072 (GRCm39)	D57E	probably damaging	Het
Stk4	C	T	2: 163,940,505 (GRCm39)		probably benign	Het
Tln1	T	A	4: 43,539,508 (GRCm39)	T1605S	probably benign	Het
Tln1	T	C	4: 43,555,894 (GRCm39)	T107A	possibly damaging	Het
Tmem135	G	T	7: 88,793,065 (GRCm39)		probably benign	Het
Tmtc3	A	G	10: 100,283,467 (GRCm39)	M696T	probably benign	Het
Trbv28	T	A	6: 41,248,761 (GRCm39)	L97Q	probably damaging	Het
Trpc4ap	A	T	2: 155,481,455 (GRCm39)	F534I	possibly damaging	Het
Trpm8	T	C	1: 88,254,127 (GRCm39)	Y117H	probably damaging	Het
Zfp608	T	C	18: 55,120,871 (GRCm39)	T239A	probably benign	Het
Zmym5	T	G	14: 57,041,617 (GRCm39)	H162P	probably damaging	Het

Other mutations in Bmp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Bmp2	APN	2	133,402,947 (GRCm39)	missense	probably benign
IGL01146:Bmp2	APN	2	133,403,220 (GRCm39)	missense	probably benign	0.12
IGL02008:Bmp2	APN	2	133,402,886 (GRCm39)	missense	probably damaging	0.99
IGL02047:Bmp2	APN	2	133,402,896 (GRCm39)	missense	probably damaging	1.00
IGL02065:Bmp2	APN	2	133,402,844 (GRCm39)	missense	probably benign	0.17
IGL02703:Bmp2	APN	2	133,403,324 (GRCm39)	missense	probably benign
R1136:Bmp2	UTSW	2	133,402,847 (GRCm39)	missense	probably damaging	1.00
R1184:Bmp2	UTSW	2	133,403,388 (GRCm39)	missense	probably damaging	1.00
R2032:Bmp2	UTSW	2	133,403,216 (GRCm39)	missense	probably benign	0.00
R3683:Bmp2	UTSW	2	133,396,392 (GRCm39)	missense	probably benign	0.03
R4468:Bmp2	UTSW	2	133,396,374 (GRCm39)	missense	probably benign
R5211:Bmp2	UTSW	2	133,396,550 (GRCm39)	missense	probably damaging	0.99
R5324:Bmp2	UTSW	2	133,403,279 (GRCm39)	nonsense	probably null
R5587:Bmp2	UTSW	2	133,396,566 (GRCm39)	missense	possibly damaging	0.94
R7040:Bmp2	UTSW	2	133,403,604 (GRCm39)	missense	probably damaging	1.00
R7574:Bmp2	UTSW	2	133,402,817 (GRCm39)	missense	probably benign
R7965:Bmp2	UTSW	2	133,403,105 (GRCm39)	missense	probably benign	0.01
R8537:Bmp2	UTSW	2	133,403,202 (GRCm39)	missense	probably damaging	0.99
R8805:Bmp2	UTSW	2	133,403,254 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07