Mutagenetix > Incidental Mutation

Incidental Mutation 'R6774:Bmp7'

532275

Institutional Source

Beutler Lab

Gene Symbol

Bmp7

Ensembl Gene

ENSMUSG00000008999

Gene Name

bone morphogenetic protein 7

Synonyms

OP1, osteogenic protein 1

MMRRC Submission

044890-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6774 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172709805-172782114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172714751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 353 (Y353H)

Ref Sequence

ENSEMBL: ENSMUSP00000009143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009143]

AlphaFold

P23359

Predicted Effect

probably damaging
Transcript: ENSMUST00000009143
AA Change: Y353H

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

SMART Domains

Protein: ENSMUSP00000009143
Gene: ENSMUSG00000008999
AA Change: Y353H

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:TGFb_propeptide	34	279	4.3e-97	PFAM
TGFB	329	430	2.14e-68	SMART

Meta Mutation Damage Score

0.9336

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

98% (53/54)

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. Mutation of this gene results in skeletal, kidney, and other developmental defects. [provided by RefSeq, Jul 2016]
PHENOTYPE: Various homozygous targeted mutations result in postnatal lethality, a wide range of skeletal and cartilage abnormalities, renal dysplasia and polycystic kidney, and eye defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,163,908 (GRCm39)	I822N	probably damaging	Het
9930111J21Rik1	A	G	11: 48,838,143 (GRCm39)	S815P	possibly damaging	Het
A430033K04Rik	A	G	5: 138,644,712 (GRCm39)	Y199C	probably benign	Het
Adam34l	T	A	8: 44,078,220 (GRCm39)	H668L	probably benign	Het
Afap1l1	A	T	18: 61,888,732 (GRCm39)	V113E	probably benign	Het
Ahnak2	C	T	12: 112,740,172 (GRCm39)	C494Y	possibly damaging	Het
Atr	A	T	9: 95,809,266 (GRCm39)	E1981D	probably benign	Het
Capn11	C	T	17: 45,968,256 (GRCm39)		probably benign	Het
Ccdc103	T	C	11: 102,773,519 (GRCm39)	F47S	probably damaging	Het
Cmas	A	G	6: 142,710,147 (GRCm39)	Y130C	possibly damaging	Het
Cntn5	T	C	9: 10,144,222 (GRCm39)	Y149C	probably damaging	Het
Col12a1	A	C	9: 79,613,619 (GRCm39)	S75R	possibly damaging	Het
Crat	G	A	2: 30,303,195 (GRCm39)	H31Y	probably damaging	Het
Dnah7a	A	G	1: 53,737,810 (GRCm39)	V41A	probably benign	Het
F5	C	T	1: 164,014,447 (GRCm39)	R573C	probably damaging	Het
Gcc2	A	G	10: 58,117,261 (GRCm39)	N1170S	possibly damaging	Het
Gm29666	A	T	15: 84,798,260 (GRCm39)	C100*	probably null	Het
Gm3573	A	T	14: 42,009,472 (GRCm39)	Y158N	possibly damaging	Het
Gtf3c1	G	T	7: 125,240,793 (GRCm39)	A1968E	possibly damaging	Het
Heg1	C	A	16: 33,558,638 (GRCm39)	T815K	probably damaging	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Kif17	A	G	4: 138,002,306 (GRCm39)	Y170C	probably damaging	Het
Kti12	G	A	4: 108,705,652 (GRCm39)	G189R	probably benign	Het
Lrp4	G	A	2: 91,341,849 (GRCm39)	A1821T	probably benign	Het
Mamdc4	T	C	2: 25,456,948 (GRCm39)	I610V	probably benign	Het
Mmp1b	T	C	9: 7,387,914 (GRCm39)	K27E	probably benign	Het
Mob4	A	G	1: 55,187,588 (GRCm39)		probably null	Het
Myc	G	A	15: 61,860,128 (GRCm39)		probably null	Het
Myo5c	A	T	9: 75,196,468 (GRCm39)	I1305F	probably benign	Het
Nprl3	A	G	11: 32,187,381 (GRCm39)	V292A	probably damaging	Het
Ntng2	T	C	2: 29,087,102 (GRCm39)	T373A	probably damaging	Het
Or1f19	T	A	16: 3,410,380 (GRCm39)	V40D	probably damaging	Het
Or4a67	C	T	2: 88,598,228 (GRCm39)	V144I	probably benign	Het
Or5p50	T	A	7: 107,422,395 (GRCm39)	T94S	probably benign	Het
Or7e171-ps1	A	T	9: 19,853,070 (GRCm39)	L222H	unknown	Het
Pard3	T	C	8: 128,137,228 (GRCm39)	L859P	probably damaging	Het
Ppcs	T	C	4: 119,276,285 (GRCm39)	D100G	probably damaging	Het
Prkdc	G	T	16: 15,543,325 (GRCm39)		probably null	Het
Pwwp2b	T	C	7: 138,835,903 (GRCm39)	V448A	probably benign	Het
Rapgef4	A	G	2: 72,056,119 (GRCm39)	K624R	probably benign	Het
Spata31e5	A	T	1: 28,815,974 (GRCm39)	I686N	probably benign	Het
Synj2	C	T	17: 6,088,290 (GRCm39)	S1447L	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tnxb	C	A	17: 34,928,606 (GRCm39)	Y2673*	probably null	Het
Trim27	T	A	13: 21,376,624 (GRCm39)	H457Q	probably damaging	Het
Trim72	T	G	7: 127,609,558 (GRCm39)	F453L	probably damaging	Het
Ubr5	A	T	15: 38,015,379 (GRCm39)	M877K	probably damaging	Het
Usp10	T	C	8: 120,678,711 (GRCm39)	L564P	probably benign	Het
Usp54	A	G	14: 20,627,296 (GRCm39)	V454A	probably damaging	Het
Uspl1	T	A	5: 149,150,904 (GRCm39)	D701E	probably benign	Het
Vmn2r103	A	G	17: 19,993,773 (GRCm39)	H50R	probably benign	Het
Zfp35	G	A	18: 24,136,015 (GRCm39)	V120I	possibly damaging	Het
Zfp712	T	C	13: 67,189,568 (GRCm39)	T320A	probably benign	Het

Other mutations in Bmp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Bmp7	APN	2	172,717,055 (GRCm39)	missense	probably damaging	1.00
IGL01143:Bmp7	APN	2	172,721,275 (GRCm39)	missense	probably benign
IGL01636:Bmp7	APN	2	172,717,001 (GRCm39)	splice site	probably benign
IGL02331:Bmp7	APN	2	172,714,724 (GRCm39)	missense	probably damaging	1.00
IGL03211:Bmp7	APN	2	172,714,676 (GRCm39)	missense	possibly damaging	0.70
R1957:Bmp7	UTSW	2	172,781,714 (GRCm39)	missense	probably damaging	0.97
R2044:Bmp7	UTSW	2	172,781,708 (GRCm39)	missense	possibly damaging	0.46
R3772:Bmp7	UTSW	2	172,712,015 (GRCm39)	missense	probably damaging	1.00
R4392:Bmp7	UTSW	2	172,758,335 (GRCm39)	missense	probably benign	0.25
R6716:Bmp7	UTSW	2	172,714,682 (GRCm39)	missense	probably damaging	1.00
R6864:Bmp7	UTSW	2	172,781,855 (GRCm39)	missense	probably benign	0.00
R6904:Bmp7	UTSW	2	172,714,706 (GRCm39)	missense	probably damaging	0.97
R7295:Bmp7	UTSW	2	172,781,690 (GRCm39)	missense	probably damaging	1.00
R7390:Bmp7	UTSW	2	172,711,998 (GRCm39)	missense	probably damaging	1.00
R7392:Bmp7	UTSW	2	172,711,998 (GRCm39)	missense	probably damaging	1.00
R7560:Bmp7	UTSW	2	172,781,757 (GRCm39)	missense	possibly damaging	0.85
R7871:Bmp7	UTSW	2	172,781,784 (GRCm39)	missense	probably benign	0.00
R7938:Bmp7	UTSW	2	172,721,283 (GRCm39)	missense	probably benign	0.44
R8790:Bmp7	UTSW	2	172,712,060 (GRCm39)	missense	probably benign	0.08
R8927:Bmp7	UTSW	2	172,721,211 (GRCm39)	missense	probably damaging	0.99
R8928:Bmp7	UTSW	2	172,721,211 (GRCm39)	missense	probably damaging	0.99
R9458:Bmp7	UTSW	2	172,721,268 (GRCm39)	missense	possibly damaging	0.83
R9470:Bmp7	UTSW	2	172,711,960 (GRCm39)	missense	probably damaging	1.00
X0024:Bmp7	UTSW	2	172,781,594 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- GCAGGAGAAGCCACTCATAC -3'
(R):5'- GCATAGCCTGAGCCTATGTC -3'

Sequencing Primer
(F):5'- GAAGCCACTCATACCCCCACTG -3'
(R):5'- CTATGTCCACTGGGCATGAG -3'

Posted On

2018-08-29