Mutagenetix > Incidental Mutation

Incidental Mutation 'R4750:Bmp3'

357484

Institutional Source

Beutler Lab

Gene Symbol

Bmp3

Ensembl Gene

ENSMUSG00000029335

Gene Name

bone morphogenetic protein 3

Synonyms

9530029I04Rik

MMRRC Submission

042031-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4750 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99002274-99031912 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99020417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 280 (E280G)

Ref Sequence

ENSEMBL: ENSMUSP00000142907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031278] [ENSMUST00000197143] [ENSMUST00000200388]

AlphaFold

Q8BHE5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031278
AA Change: E280G

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031278
Gene: ENSMUSG00000029335
AA Change: E280G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:TGFb_propeptide	34	231	7.9e-9	PFAM
TGFB	366	468	6.17e-60	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197143
AA Change: E280G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142662
Gene: ENSMUSG00000029335
AA Change: E280G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:TGFb_propeptide	40	227	1.2e-9	PFAM
TGFB	366	433	5.1e-11	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200388
AA Change: E280G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142907
Gene: ENSMUSG00000029335
AA Change: E280G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:TGFb_propeptide	40	227	1.4e-9	PFAM
TGFB	366	442	3.9e-11	SMART

Meta Mutation Damage Score

0.0894

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

97% (89/92)

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. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. Homozygous knockout mice for this gene exhibit increased bone density and volume, while overexpression of this gene in a transgenic mouse causes bone defects resulting in spontaneous rib fractures. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in increased bone density. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,025,945 (GRCm39)	L155Q	probably damaging	Het
Aadac	T	C	3: 59,943,238 (GRCm39)	F48L	probably benign	Het
Aadat	T	A	8: 60,979,634 (GRCm39)	N165K	probably benign	Het
Acan	C	A	7: 78,742,466 (GRCm39)	D557E	probably damaging	Het
Adamts4	T	A	1: 171,078,635 (GRCm39)	V85D	probably benign	Het
Agt	A	G	8: 125,283,676 (GRCm39)	V481A	probably benign	Het
Angpt1	T	C	15: 42,539,797 (GRCm39)	N21D	probably benign	Het
Ankrd52	A	C	10: 128,213,958 (GRCm39)	D38A	probably damaging	Het
Ap1g2	G	T	14: 55,341,822 (GRCm39)	Q247K	probably damaging	Het
Apaf1	T	C	10: 90,896,050 (GRCm39)	R341G	probably damaging	Het
Arf2	T	C	11: 103,870,585 (GRCm39)		probably null	Het
Arhgef1	A	G	7: 24,618,001 (GRCm39)		probably benign	Het
Bbln	C	T	2: 32,269,425 (GRCm39)		probably null	Het
Bbox1	T	A	2: 110,095,866 (GRCm39)	Y366F	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdh12	T	A	15: 21,583,894 (GRCm39)	V578D	possibly damaging	Het
Cdk19	T	C	10: 40,352,195 (GRCm39)	S282P	probably damaging	Het
Cfap46	A	G	7: 139,259,239 (GRCm39)		probably null	Het
Cfhr3	T	A	1: 139,512,566 (GRCm39)		noncoding transcript	Het
Ctrc	T	A	4: 141,568,834 (GRCm39)	Y123F	probably benign	Het
Dync2i2	T	C	2: 29,923,932 (GRCm39)	T198A	probably benign	Het
Enpp4	A	G	17: 44,413,246 (GRCm39)	M96T	probably damaging	Het
Exosc10	T	A	4: 148,646,851 (GRCm39)	S154T	possibly damaging	Het
Fbxo21	G	A	5: 118,138,533 (GRCm39)	R486H	probably benign	Het
Foxj3	C	A	4: 119,473,787 (GRCm39)	A204E	probably damaging	Het
Gas6	T	G	8: 13,526,227 (GRCm39)	D237A	probably benign	Het
Gimap8	A	G	6: 48,627,361 (GRCm39)	S112G	probably benign	Het
Gm4787	T	C	12: 81,425,141 (GRCm39)	N339S	possibly damaging	Het
Gm6185	T	C	1: 161,009,933 (GRCm39)		noncoding transcript	Het
Gramd2b	A	G	18: 56,565,372 (GRCm39)	E9G	probably benign	Het
Hmgxb3	A	T	18: 61,300,568 (GRCm39)	D169E	probably benign	Het
Isl2	T	A	9: 55,451,596 (GRCm39)	V162D	probably benign	Het
Kcns3	T	A	12: 11,141,655 (GRCm39)	D348V	probably damaging	Het
Kcp	G	A	6: 29,484,625 (GRCm39)	P1318S	probably benign	Het
Kif12	T	A	4: 63,086,020 (GRCm39)	Q415L	probably damaging	Het
Lama3	T	A	18: 12,637,416 (GRCm39)	H45Q	probably benign	Het
Lonp2	A	T	8: 87,358,130 (GRCm39)	K117M	probably benign	Het
Loxl4	T	A	19: 42,593,443 (GRCm39)	N243Y	probably damaging	Het
Lrif1	C	A	3: 106,642,880 (GRCm39)	Q662K	probably benign	Het
Lrrc37a	T	A	11: 103,346,306 (GRCm39)	I3187L	probably benign	Het
Lsg1	A	G	16: 30,384,267 (GRCm39)	I521T	probably damaging	Het
Mecom	T	G	3: 30,011,679 (GRCm39)	K865Q	probably damaging	Het
Myh10	T	C	11: 68,676,140 (GRCm39)	I790T	probably damaging	Het
Nek7	C	T	1: 138,426,411 (GRCm39)	S234N	probably damaging	Het
Nepro	T	C	16: 44,550,545 (GRCm39)	L179P	probably damaging	Het
Nexn	A	G	3: 151,943,359 (GRCm39)	C649R	probably damaging	Het
Nsmf	T	C	2: 24,945,038 (GRCm39)	S34P	probably damaging	Het
Or10x1	A	G	1: 174,196,488 (GRCm39)	I2V	probably benign	Het
Or13n4	A	G	7: 106,423,514 (GRCm39)	F73S	probably damaging	Het
Or13p5	T	A	4: 118,591,930 (GRCm39)	V68D	possibly damaging	Het
Or1n2	T	A	2: 36,797,728 (GRCm39)	S257T	probably benign	Het
Or1p1c	T	A	11: 74,160,246 (GRCm39)	F10L	probably benign	Het
Or2w2	A	G	13: 21,757,913 (GRCm39)	S238P	possibly damaging	Het
Or52l1	A	T	7: 104,830,133 (GRCm39)	I144N	probably damaging	Het
Or5bw2	A	G	7: 6,573,850 (GRCm39)	I287V	probably benign	Het
Or5w16	C	T	2: 87,576,852 (GRCm39)	T104I	probably benign	Het
P2rx5	G	T	11: 73,055,703 (GRCm39)	K53N	probably damaging	Het
Pcdhb20	C	A	18: 37,639,184 (GRCm39)	A570E	possibly damaging	Het
Pip4k2c	T	C	10: 127,047,286 (GRCm39)	H32R	unknown	Het
Pkhd1	T	A	1: 20,594,336 (GRCm39)	D1259V	possibly damaging	Het
Plekha7	A	T	7: 115,736,546 (GRCm39)	V889E	probably damaging	Het
Polr2b	A	C	5: 77,479,886 (GRCm39)	E546D	possibly damaging	Het
Ppm1l	A	G	3: 69,456,661 (GRCm39)	T193A	probably damaging	Het
Ppp1r37	G	T	7: 19,265,445 (GRCm39)	D710E	probably benign	Het
Prdm4	A	G	10: 85,735,085 (GRCm39)	F679L	probably damaging	Het
Prkcd	A	G	14: 30,332,258 (GRCm39)	M1T	probably null	Het
Prss59	A	G	6: 40,897,955 (GRCm39)	W243R	probably damaging	Het
Rcor3	A	G	1: 191,814,749 (GRCm39)	Y77H	unknown	Het
Rdh5	T	C	10: 128,754,235 (GRCm39)	E66G	possibly damaging	Het
Slc12a5	A	G	2: 164,824,851 (GRCm39)	M396V	probably benign	Het
Slco5a1	T	G	1: 12,949,504 (GRCm39)	T629P	probably damaging	Het
Smarca5	A	C	8: 81,460,336 (GRCm39)	N133K	probably benign	Het
Spag5	T	C	11: 78,210,878 (GRCm39)	M927T	probably benign	Het
Spint4	A	T	2: 164,542,066 (GRCm39)	D39V	probably damaging	Het
Syt6	T	A	3: 103,538,233 (GRCm39)	*512R	probably null	Het
Tmem247	T	C	17: 87,229,770 (GRCm39)	C204R	probably damaging	Het
Tmem72	A	G	6: 116,672,395 (GRCm39)	Y149H	probably damaging	Het
Trpm6	T	C	19: 18,853,428 (GRCm39)	V1816A	probably damaging	Het
Usp35	A	G	7: 96,959,546 (GRCm39)	V1008A	possibly damaging	Het
Washc4	T	C	10: 83,426,916 (GRCm39)	S1075P	probably damaging	Het
Xylb	G	T	9: 119,188,379 (GRCm39)	G62*	probably null	Het
Zfp142	T	C	1: 74,611,617 (GRCm39)	E623G	probably damaging	Het
Zfp239	A	G	6: 117,848,700 (GRCm39)	Y146C	probably damaging	Het

Other mutations in Bmp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Bmp3	APN	5	99,020,238 (GRCm39)	missense	possibly damaging	0.47
IGL02396:Bmp3	APN	5	99,020,578 (GRCm39)	missense	possibly damaging	0.47
IGL03058:Bmp3	APN	5	99,019,953 (GRCm39)	missense	probably damaging	1.00
IGL03189:Bmp3	APN	5	99,020,579 (GRCm39)	missense	probably benign	0.23
IGL03400:Bmp3	APN	5	99,019,957 (GRCm39)	missense	probably damaging	1.00
PIT4377001:Bmp3	UTSW	5	99,027,608 (GRCm39)	missense	unknown
R0139:Bmp3	UTSW	5	99,027,768 (GRCm39)	missense	possibly damaging	0.72
R0653:Bmp3	UTSW	5	99,019,970 (GRCm39)	missense	probably damaging	1.00
R0881:Bmp3	UTSW	5	99,020,461 (GRCm39)	missense	possibly damaging	0.95
R1261:Bmp3	UTSW	5	99,027,785 (GRCm39)	missense	probably damaging	1.00
R1413:Bmp3	UTSW	5	99,020,264 (GRCm39)	missense	probably damaging	0.98
R1481:Bmp3	UTSW	5	99,020,329 (GRCm39)	missense	probably damaging	1.00
R3009:Bmp3	UTSW	5	99,027,696 (GRCm39)	missense	probably damaging	1.00
R4507:Bmp3	UTSW	5	99,027,633 (GRCm39)	missense	probably damaging	1.00
R4833:Bmp3	UTSW	5	99,003,066 (GRCm39)	missense	probably damaging	1.00
R4921:Bmp3	UTSW	5	99,019,920 (GRCm39)	missense	probably damaging	1.00
R5022:Bmp3	UTSW	5	99,020,683 (GRCm39)	missense	probably damaging	1.00
R6039:Bmp3	UTSW	5	99,020,209 (GRCm39)	missense	probably benign	0.00
R6039:Bmp3	UTSW	5	99,020,209 (GRCm39)	missense	probably benign	0.00
R7179:Bmp3	UTSW	5	99,020,622 (GRCm39)	missense	probably damaging	1.00
R7448:Bmp3	UTSW	5	99,020,077 (GRCm39)	missense	probably damaging	0.96
R7880:Bmp3	UTSW	5	99,020,434 (GRCm39)	missense	probably damaging	1.00
R8171:Bmp3	UTSW	5	99,020,528 (GRCm39)	missense	probably damaging	1.00
R8353:Bmp3	UTSW	5	99,003,282 (GRCm39)	critical splice donor site	probably null
R8378:Bmp3	UTSW	5	99,003,248 (GRCm39)	missense	probably damaging	1.00
R8453:Bmp3	UTSW	5	99,003,282 (GRCm39)	critical splice donor site	probably null
R9191:Bmp3	UTSW	5	99,019,946 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTTAACATTACCTCCAGAGCAC -3'
(R):5'- CAAATTGCAGCGTCTGTCCC -3'

Sequencing Primer
(F):5'- CACGAGCTACCCAAGAGGATG -3'
(R):5'- GTCTGTCCCTTCTGATGGGAC -3'

Posted On

2015-11-11