Mutagenetix > Incidental Mutation

Incidental Mutation 'R0653:Bmp3'

62370

Institutional Source

Beutler Lab

Gene Symbol

Bmp3

Ensembl Gene

ENSMUSG00000029335

Gene Name

bone morphogenetic protein 3

Synonyms

9530029I04Rik

MMRRC Submission

038838-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0653 (G1)

Quality Score

103

Status

Not validated

Chromosome

Chromosomal Location

99002274-99031912 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99019970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 131 (Y131C)

Ref Sequence

ENSEMBL: ENSMUSP00000142907 (fasta)

Gene Model

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

AlphaFold

Q8BHE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000031278
AA Change: Y131C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031278
Gene: ENSMUSG00000029335
AA Change: Y131C

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

probably damaging
Transcript: ENSMUST00000197143
AA Change: Y131C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142662
Gene: ENSMUSG00000029335
AA Change: Y131C

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

probably damaging
Transcript: ENSMUST00000200388
AA Change: Y131C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142907
Gene: ENSMUSG00000029335
AA Change: Y131C

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

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. 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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,066,371 (GRCm39)	R612*	probably null	Het
Adgra1	A	G	7: 139,456,063 (GRCm39)	T564A	probably damaging	Het
Akr1c18	A	T	13: 4,195,307 (GRCm39)	D50E	probably damaging	Het
Atg9a	C	A	1: 75,166,972 (GRCm39)	L26F	probably damaging	Het
Atp11b	A	G	3: 35,893,343 (GRCm39)	T899A	probably damaging	Het
Atxn2	A	G	5: 121,910,841 (GRCm39)	E358G	probably damaging	Het
Brip1	T	C	11: 86,043,484 (GRCm39)	E360G	possibly damaging	Het
Casd1	A	T	6: 4,608,075 (GRCm39)	I76L	probably benign	Het
Casq2	G	A	3: 102,020,482 (GRCm39)		probably null	Het
Ccdc185	T	A	1: 182,575,129 (GRCm39)	Q520L	possibly damaging	Het
Cenpf	T	C	1: 189,392,183 (GRCm39)	K550E	probably damaging	Het
Ciz1	T	C	2: 32,262,418 (GRCm39)	S521P	probably damaging	Het
Clstn2	A	T	9: 97,340,257 (GRCm39)	V705E	probably damaging	Het
Dagla	A	G	19: 10,225,789 (GRCm39)	Y792H	probably damaging	Het
Dgke	A	T	11: 88,950,995 (GRCm39)	C73S	probably benign	Het
Egflam	A	G	15: 7,279,509 (GRCm39)		probably null	Het
Farp1	T	C	14: 121,471,258 (GRCm39)		probably null	Het
Fos	A	G	12: 85,522,790 (GRCm39)	E234G	probably benign	Het
Gtf3c5	A	T	2: 28,468,008 (GRCm39)	M151K	probably benign	Het
Hgs	G	A	11: 120,359,904 (GRCm39)	R36H	probably damaging	Het
Lats2	G	A	14: 57,937,653 (GRCm39)	Q279*	probably null	Het
Lysmd4	T	A	7: 66,875,788 (GRCm39)	D150E	probably benign	Het
Mex3b	A	G	7: 82,518,242 (GRCm39)	K186E	probably damaging	Het
Myo9a	A	C	9: 59,832,274 (GRCm39)	Q2601P	probably damaging	Het
Nckap5l	C	A	15: 99,321,127 (GRCm39)	V1218F	probably damaging	Het
Nr5a2	A	G	1: 136,876,543 (GRCm39)	V40A	probably benign	Het
Obscn	C	A	11: 58,898,534 (GRCm39)		probably benign	Het
Or2y1d	C	A	11: 49,322,078 (GRCm39)	Y258*	probably null	Het
Or4c114	A	G	2: 88,904,808 (GRCm39)	I209T	possibly damaging	Het
Or8g4	A	G	9: 39,661,934 (GRCm39)	N84S	probably benign	Het
Pclo	T	A	5: 14,732,269 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,118,228 (GRCm39)	I2939V	probably benign	Het
Rtn4	A	T	11: 29,657,256 (GRCm39)	K470I	probably damaging	Het
Sbno1	A	G	5: 124,524,955 (GRCm39)	I1050T	possibly damaging	Het
Scaf11	G	T	15: 96,316,522 (GRCm39)	S17*	probably null	Het
Scn9a	A	T	2: 66,363,721 (GRCm39)	N841K	probably damaging	Het
Slc35e3	C	A	10: 117,576,711 (GRCm39)	E207*	probably null	Het
Slc6a20b	A	G	9: 123,426,377 (GRCm39)	F503L	probably damaging	Het
Spag16	G	T	1: 69,909,504 (GRCm39)	K200N	probably damaging	Het
Supt6	G	T	11: 78,116,841 (GRCm39)	Q604K	probably benign	Het
Taok1	A	G	11: 77,469,550 (GRCm39)		probably null	Het
Tjp1	A	T	7: 64,964,503 (GRCm39)	H889Q	probably damaging	Het
Tmed6	A	T	8: 107,792,283 (GRCm39)		probably null	Het
Tsen54	A	T	11: 115,705,887 (GRCm39)	E68V	probably damaging	Het
Ttn	A	G	2: 76,559,878 (GRCm39)	S21181P	probably damaging	Het
Ube3d	A	T	9: 86,334,043 (GRCm39)	M33K	possibly damaging	Het
Umodl1	C	A	17: 31,203,002 (GRCm39)	Q452K	probably benign	Het
Wif1	G	T	10: 120,935,704 (GRCm39)	A354S	probably benign	Het
Wnk2	A	G	13: 49,210,492 (GRCm39)	F1788L	possibly damaging	Het
Zfhx3	A	T	8: 109,673,440 (GRCm39)	I1497F	possibly damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp30	G	A	7: 29,492,178 (GRCm39)	R225Q	probably damaging	Het
Zfp87	T	C	13: 74,520,190 (GRCm39)	E296G	probably damaging	Het
Zfp874b	A	G	13: 67,623,052 (GRCm39)	F86S	possibly damaging	Het
Zfyve19	A	G	2: 119,041,696 (GRCm39)	S88G	probably benign	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
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
R4750:Bmp3	UTSW	5	99,020,417 (GRCm39)	missense	possibly damaging	0.89
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'- ACACCAACGATGCTGCCATTTCT -3'
(R):5'- TGACCACATCTACAGACAGATGACCC -3'

Sequencing Primer
(F):5'- atgaatctgttaccaagtctaaagtc -3'
(R):5'- CAGATGACCCAAGAGCTGG -3'

Posted On

2013-07-30