Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00090:Bmp2'

1840

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 #

IGL00090

Quality Score

Status

Chromosome

Chromosomal Location

133394079-133404805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133402947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 166 (Q166L)

Ref Sequence

ENSEMBL: ENSMUSP00000028836 (fasta)

Gene Model

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

AlphaFold

P21274

Predicted Effect

probably benign
Transcript: ENSMUST00000028836
AA Change: Q166L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028836
Gene: ENSMUSG00000027358
AA Change: Q166L

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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,854,345 (GRCm39)	T857A	probably benign	Het
Abcc9	A	T	6: 142,578,916 (GRCm39)		probably benign	Het
Adam11	A	G	11: 102,667,657 (GRCm39)	T709A	probably benign	Het
Adgre1	A	G	17: 57,757,055 (GRCm39)	I771V	probably benign	Het
Adgrv1	T	G	13: 81,553,527 (GRCm39)		probably null	Het
Adgrv1	C	T	13: 81,726,220 (GRCm39)	D602N	probably damaging	Het
Adra1d	G	T	2: 131,403,597 (GRCm39)	D164E	possibly damaging	Het
Ago3	A	G	4: 126,265,334 (GRCm39)	L319P	probably damaging	Het
Aim2	A	G	1: 173,283,031 (GRCm39)	S38G	probably benign	Het
Apoh	A	G	11: 108,286,660 (GRCm39)	D28G	probably benign	Het
Atm	C	T	9: 53,435,743 (GRCm39)	R189K	probably damaging	Het
Bbs1	T	C	19: 4,943,038 (GRCm39)	T451A	probably benign	Het
BC034090	T	C	1: 155,101,193 (GRCm39)	D719G	possibly damaging	Het
Bcr	T	C	10: 74,992,903 (GRCm39)		probably benign	Het
Bms1	A	T	6: 118,381,544 (GRCm39)	S665T	probably benign	Het
Ccser1	A	T	6: 62,357,126 (GRCm39)	T855S	possibly damaging	Het
Cfap36	C	T	11: 29,172,875 (GRCm39)	V217M	probably benign	Het
Clca3b	T	C	3: 144,542,393 (GRCm39)	N470D	probably damaging	Het
Cort	A	G	4: 149,209,752 (GRCm39)	F100S	probably damaging	Het
Cyp4f14	G	T	17: 33,133,540 (GRCm39)	D105E	probably benign	Het
Dnah1	A	G	14: 31,009,830 (GRCm39)	S1913P	probably benign	Het
Fam91a1	A	T	15: 58,302,584 (GRCm39)	H308L	probably damaging	Het
Fbn1	A	C	2: 125,166,867 (GRCm39)	I2016M	probably damaging	Het
Fibcd1	T	A	2: 31,723,886 (GRCm39)	Q251L	possibly damaging	Het
Flg2	T	A	3: 93,109,416 (GRCm39)	Y481*	probably null	Het
Ly9	A	T	1: 171,421,019 (GRCm39)	I624N	probably damaging	Het
Mapt	C	T	11: 104,213,311 (GRCm39)	S301L	probably damaging	Het
Meiob	G	A	17: 25,042,603 (GRCm39)	V144I	probably benign	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Myo5a	T	A	9: 75,068,779 (GRCm39)	C660*	probably null	Het
Necab3	G	T	2: 154,389,488 (GRCm39)		probably benign	Het
Nr2c2ap	A	G	8: 70,585,279 (GRCm39)	Y93C	probably damaging	Het
Nxpe5	A	G	5: 138,247,096 (GRCm39)	D356G	probably benign	Het
Or10ak9	T	A	4: 118,726,484 (GRCm39)	Y168N	probably damaging	Het
Or2w25	A	T	11: 59,504,147 (GRCm39)	Y119F	possibly damaging	Het
Plce1	A	G	19: 38,734,232 (GRCm39)	Q1544R	probably damaging	Het
Plppr4	T	A	3: 117,115,869 (GRCm39)	T605S	probably benign	Het
Poglut1	C	A	16: 38,363,278 (GRCm39)	W167L	possibly damaging	Het
Pou2f1	G	T	1: 165,729,867 (GRCm39)	R162S	probably damaging	Het
Ptprf	A	G	4: 118,080,417 (GRCm39)		probably benign	Het
Reln	C	A	5: 22,244,563 (GRCm39)	G805V	possibly damaging	Het
Rexo2	A	G	9: 48,385,747 (GRCm39)	S126P	probably damaging	Het
Robo4	A	G	9: 37,322,400 (GRCm39)	S844G	probably damaging	Het
Scn7a	A	G	2: 66,513,671 (GRCm39)		probably benign	Het
Sdc1	A	G	12: 8,840,459 (GRCm39)	T75A	possibly damaging	Het
Slc38a4	C	T	15: 96,917,690 (GRCm39)	E12K	probably benign	Het
Spata31h1	T	G	10: 82,119,586 (GRCm39)	M4475L	probably benign	Het
Tbck	T	C	3: 132,448,854 (GRCm39)		probably null	Het
Tex2	A	T	11: 106,459,361 (GRCm39)	V23E	probably damaging	Het
Zfp770	A	G	2: 114,026,413 (GRCm39)	V552A	probably benign	Het
Zfyve26	T	C	12: 79,296,234 (GRCm39)		probably benign	Het

Other mutations in Bmp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2011-07-12