Mutagenetix > Incidental Mutation

Incidental Mutation 'R7040:Bmp2'

546981

Institutional Source

Beutler Lab

Gene Symbol

Bmp2

Ensembl Gene

ENSMUSG00000027358

Gene Name

bone morphogenetic protein 2

Synonyms

Bmp2a

MMRRC Submission

045013-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7040 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133394079-133404805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133403604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 385 (D385G)

Ref Sequence

ENSEMBL: ENSMUSP00000028836 (fasta)

Gene Model

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

AlphaFold

P21274

Predicted Effect

probably damaging
Transcript: ENSMUST00000028836
AA Change: D385G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028836
Gene: ENSMUSG00000027358
AA Change: D385G

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 127,835,897 (GRCm39)	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,178,104 (GRCm39)	V312A	probably damaging	Het
C1qtnf9	T	C	14: 61,017,241 (GRCm39)	V257A	probably damaging	Het
Cd3d	G	A	9: 44,896,991 (GRCm39)	V122I	probably damaging	Het
Cdc37	T	C	9: 21,053,519 (GRCm39)	E199G	probably damaging	Het
Crb2	T	A	2: 37,677,696 (GRCm39)	D326E	probably benign	Het
Cyp2c29	A	C	19: 39,318,781 (GRCm39)	K420N	possibly damaging	Het
Cyp2g1	A	C	7: 26,520,184 (GRCm39)	D472A	probably damaging	Het
Dab2	A	C	15: 6,451,732 (GRCm39)	H116P	probably damaging	Het
Dnah7b	G	C	1: 46,275,969 (GRCm39)	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,584,909 (GRCm39)	M208L	probably benign	Het
Eif4enif1	T	G	11: 3,184,040 (GRCm39)	V521G	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fpr-rs6	A	G	17: 20,403,196 (GRCm39)	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362 (GRCm39)	S101G	probably damaging	Het
Kif15	T	A	9: 122,840,679 (GRCm39)	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,936,158 (GRCm39)	Q611R	possibly damaging	Het
Lrrc47	T	A	4: 154,104,909 (GRCm39)	*123R	probably null	Het
Map4k3	A	C	17: 80,988,344 (GRCm39)	V36G	probably damaging	Het
Mme	T	A	3: 63,276,344 (GRCm39)	I707N	probably damaging	Het
Muc2	A	G	7: 141,305,194 (GRCm39)	E166G	unknown	Het
Mucl1	T	A	15: 103,783,844 (GRCm39)	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,497,805 (GRCm39)	D53V	possibly damaging	Het
Naa15	T	A	3: 51,380,205 (GRCm39)	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,525,267 (GRCm39)	T1487A	probably benign	Het
Nme8	A	T	13: 19,878,498 (GRCm39)	L87H	probably damaging	Het
Nr2e1	A	G	10: 42,444,374 (GRCm39)	V245A	probably damaging	Het
Nt5c2	A	T	19: 46,881,974 (GRCm39)	F291Y	possibly damaging	Het
Ooep	T	C	9: 78,285,683 (GRCm39)	N43S	possibly damaging	Het
Or10ak13	T	C	4: 118,639,183 (GRCm39)	M200V	probably benign	Het
Or4e1	T	C	14: 52,700,932 (GRCm39)	D178G	possibly damaging	Het
Or52i2	A	T	7: 102,319,937 (GRCm39)	Q270L	probably benign	Het
Or52n2c	A	T	7: 104,574,717 (GRCm39)	C85S	probably benign	Het
Ovch2	A	T	7: 107,395,772 (GRCm39)	I82N	probably damaging	Het
Palb2	A	T	7: 121,713,622 (GRCm39)	M524K	possibly damaging	Het
Patj	T	C	4: 98,329,317 (GRCm39)	S524P	probably benign	Het
Patl1	T	A	19: 11,907,318 (GRCm39)	Y401N	possibly damaging	Het
Pcdhb20	A	T	18: 37,637,770 (GRCm39)	T99S	probably benign	Het
Plcb4	G	A	2: 135,774,182 (GRCm39)	A155T	probably benign	Het
Rpap3	A	G	15: 97,576,993 (GRCm39)	V585A	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spen	T	A	4: 141,221,693 (GRCm39)	T302S	unknown	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Ube2o	T	C	11: 116,432,686 (GRCm39)	E760G	probably benign	Het
Uimc1	T	A	13: 55,223,267 (GRCm39)		probably null	Het
Usp16	C	T	16: 87,277,817 (GRCm39)	A689V	probably damaging	Het
Vmn2r60	G	A	7: 41,791,666 (GRCm39)	A530T	probably benign	Het
Vps8	T	A	16: 21,393,772 (GRCm39)	M1185K	probably damaging	Het
Vwa8	T	C	14: 79,149,645 (GRCm39)	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,967,529 (GRCm39)	N175S	probably benign	Het
Zfp160	A	T	17: 21,246,794 (GRCm39)	H448L	probably damaging	Het
Zfp90	T	A	8: 107,151,641 (GRCm39)	C451*	probably null	Het
Zfp945	A	G	17: 23,071,264 (GRCm39)	C212R	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
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
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'- CATGGGGAGTGTCCTTTTCC -3'
(R):5'- ATGTGCTGGAGTTGAACCC -3'

Sequencing Primer
(F):5'- CCCTTGCTGACCACCTGAAC -3'
(R):5'- GCTGGAGTTGAACCCATATAAAATG -3'

Posted On

2019-05-13