Mutagenetix > Incidental Mutation

Incidental Mutation 'R2032:Bmp2'

221328

Institutional Source

Beutler Lab

Gene Symbol

Bmp2

Ensembl Gene

ENSMUSG00000027358

Gene Name

bone morphogenetic protein 2

Synonyms

Bmp2a

MMRRC Submission

040039-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2032 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133394079-133404805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133403216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 256 (S256P)

Ref Sequence

ENSEMBL: ENSMUSP00000028836 (fasta)

Gene Model

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

AlphaFold

P21274

Predicted Effect

probably benign
Transcript: ENSMUST00000028836
AA Change: S256P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000028836
Gene: ENSMUSG00000027358
AA Change: S256P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175597

Meta Mutation Damage Score

0.0591

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,585,056 (GRCm39)		probably benign	Het
Abca7	C	T	10: 79,844,071 (GRCm39)	T1359M	probably damaging	Het
Acox2	A	G	14: 8,246,400 (GRCm38)	S464P	probably benign	Het
Adgrf1	C	T	17: 43,622,166 (GRCm39)	T801I	probably damaging	Het
Akap11	T	A	14: 78,747,477 (GRCm39)	I1637L	possibly damaging	Het
Akap12	C	A	10: 4,306,673 (GRCm39)	A1161D	possibly damaging	Het
Ankrd36	T	A	11: 5,578,616 (GRCm39)	V635D	possibly damaging	Het
Ankrd44	C	T	1: 54,762,168 (GRCm39)		probably null	Het
Atl2	A	G	17: 80,203,373 (GRCm39)	V28A	probably benign	Het
Atxn3	A	T	12: 101,908,453 (GRCm39)	L133*	probably null	Het
Ccdc121rt3	G	A	5: 112,502,978 (GRCm39)	T242I	possibly damaging	Het
Ccdc138	T	A	10: 58,348,984 (GRCm39)	Y177N	possibly damaging	Het
Ccdc168	C	A	1: 44,100,900 (GRCm39)	C66F	possibly damaging	Het
Cdcp3	G	A	7: 130,844,781 (GRCm39)	G674E	probably damaging	Het
Cep164	C	T	9: 45,682,898 (GRCm39)	V931M	probably damaging	Het
Cfhr4	T	A	1: 139,660,993 (GRCm39)		probably benign	Het
CK137956	T	C	4: 127,839,069 (GRCm39)	T450A	probably benign	Het
Col23a1	G	A	11: 51,450,835 (GRCm39)	G215D	unknown	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dennd6a	T	C	14: 26,325,904 (GRCm39)	M5T	probably benign	Het
Dnajc6	T	G	4: 101,471,435 (GRCm39)	I284S	probably benign	Het
Dolpp1	C	T	2: 30,282,453 (GRCm39)	A2V	probably damaging	Het
Eml2	C	T	7: 18,936,480 (GRCm39)	T711I	probably benign	Het
Evi5l	T	C	8: 4,260,622 (GRCm39)	D1065G	probably damaging	Het
Fam110b	G	T	4: 5,799,460 (GRCm39)	A293S	probably benign	Het
Fap	A	G	2: 62,372,581 (GRCm39)	V266A	probably benign	Het
Fgf10	A	T	13: 118,852,131 (GRCm39)	Y71F	probably damaging	Het
Gm3443	G	T	19: 21,533,164 (GRCm39)	G43C	probably damaging	Het
Gpr146	T	C	5: 139,364,902 (GRCm39)		probably benign	Het
Hif3a	A	T	7: 16,785,104 (GRCm39)	L172H	probably damaging	Het
Mas1	T	C	17: 13,061,457 (GRCm39)		probably benign	Het
Nlrp5	G	A	7: 23,120,937 (GRCm39)	R717Q	probably damaging	Het
Nop14	A	G	5: 34,817,283 (GRCm39)	V36A	possibly damaging	Het
Or10v5	C	T	19: 11,805,664 (GRCm39)	C242Y	probably damaging	Het
Or51a39	A	T	7: 102,363,083 (GRCm39)	I179N	probably benign	Het
Or7a41	T	A	10: 78,871,163 (GRCm39)	F178I	possibly damaging	Het
Parp4	T	A	14: 56,866,553 (GRCm39)	I1039K	possibly damaging	Het
Pate12	T	C	9: 36,344,195 (GRCm39)		probably null	Het
Pold2	A	T	11: 5,826,757 (GRCm39)	I59N	probably benign	Het
Prr36	T	C	8: 4,264,304 (GRCm39)		probably benign	Het
Pyroxd2	T	C	19: 42,716,088 (GRCm39)		probably benign	Het
Recql	C	T	6: 142,313,009 (GRCm39)	G403R	probably damaging	Het
Serpina3m	T	A	12: 104,355,928 (GRCm39)	D198E	probably benign	Het
Sik2	A	T	9: 50,906,947 (GRCm39)	Y93N	probably damaging	Het
Slc27a3	C	T	3: 90,294,704 (GRCm39)	R389H	probably damaging	Het
Slc29a1	A	T	17: 45,897,035 (GRCm39)	M417K	probably damaging	Het
Syt13	A	G	2: 92,783,746 (GRCm39)	K339E	probably damaging	Het
Tmem237	A	T	1: 59,148,265 (GRCm39)	H163Q	probably benign	Het
Tram2	C	T	1: 21,074,180 (GRCm39)	G253R	probably null	Het
Trpv1	A	G	11: 73,129,211 (GRCm39)	T43A	probably benign	Het
Ugt2b34	A	G	5: 87,039,131 (GRCm39)	I510T	probably damaging	Het
Vmn1r224	C	A	17: 20,639,658 (GRCm39)	D78E	probably benign	Het
Vmn1r78	A	T	7: 11,887,210 (GRCm39)	I274L	probably benign	Het
Wdfy4	C	T	14: 32,868,946 (GRCm39)	V361I	probably benign	Het
Zpbp2	A	T	11: 98,445,534 (GRCm39)	K165N	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
IGL01933:Bmp2	APN	2	133,396,578 (GRCm39)	missense	possibly damaging	0.90
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
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

Predicted Primers

PCR Primer
(F):5'- CTTGAAATTTCCTGTGACCAGAC -3'
(R):5'- TGCCACGATCCAGTCATTCC -3'

Sequencing Primer
(F):5'- CCTGTGACCAGACTATTGGAC -3'
(R):5'- GTCATTCCACCCCACATCACTG -3'

Posted On

2014-08-25