Mutagenetix > Incidental Mutation

Incidental Mutation 'R4392:Bmp7'

326396

Institutional Source

Beutler Lab

Gene Symbol

Bmp7

Ensembl Gene

ENSMUSG00000008999

Gene Name

bone morphogenetic protein 7

Synonyms

osteogenic protein 1, OP1

MMRRC Submission

041127-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4392 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172868012-172940321 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 172916542 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 178 (D178A)

Ref Sequence

ENSEMBL: ENSMUSP00000009143 (fasta)

Gene Model

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

AlphaFold

P23359

Predicted Effect

probably benign
Transcript: ENSMUST00000009143
AA Change: D178A

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000009143
Gene: ENSMUSG00000008999
AA Change: D178A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137247

Meta Mutation Damage Score

0.1370

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 96.1%
20x: 90.5%

Validation Efficiency

95% (69/73)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	C	T	14: 54,584,978		probably null	Het
Abca13	A	C	11: 9,309,034	K2920T	possibly damaging	Het
Amy2b	T	G	3: 113,149,408		noncoding transcript	Het
Anapc1	T	C	2: 128,676,249		probably null	Het
Brsk1	T	A	7: 4,698,750	I170N	probably damaging	Het
Bub3	C	T	7: 131,566,335	A187V	probably benign	Het
Cacna2d2	A	G	9: 107,400,280	H71R	possibly damaging	Het
Cdrt4	A	T	11: 62,951,353	K20N	probably benign	Het
Clec12a	A	T	6: 129,353,464		probably benign	Het
Col12a1	T	A	9: 79,662,488	Y1600F	probably damaging	Het
Cyp2a12	T	A	7: 27,029,275	I57N	probably damaging	Het
Dip2b	T	C	15: 100,162,036	L223P	probably damaging	Het
Dnah5	G	A	15: 28,289,229	R1188H	probably benign	Het
Dopey1	T	C	9: 86,503,143		probably benign	Het
Efcab5	T	A	11: 77,090,458	N1354I	probably damaging	Het
Eif4b	T	A	15: 102,086,641		probably null	Het
Elmsan1	A	T	12: 84,173,111	D356E	probably benign	Het
Erlec1	A	G	11: 30,943,697		probably null	Het
Esp24	T	C	17: 39,040,077		probably benign	Het
Esp34	T	C	17: 38,559,491	V24A	possibly damaging	Het
Fbxw15	T	A	9: 109,568,232		probably benign	Het
Foxc2	T	C	8: 121,117,452	S280P	probably damaging	Het
Gm21738	G	C	14: 19,417,178	L117V	probably benign	Het
Grk3	A	G	5: 112,920,136	F467S	probably damaging	Het
Grwd1	C	T	7: 45,827,780	G228S	probably damaging	Het
Gtf2i	T	C	5: 134,260,629	E399G	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Lhx4	A	G	1: 155,710,134	Y83H	probably damaging	Het
Mdga1	T	C	17: 29,850,656	T413A	probably damaging	Het
Mmrn2	T	A	14: 34,397,616	L184H	probably damaging	Het
Mroh2a	C	T	1: 88,259,589	R133C	probably damaging	Het
Myh13	A	C	11: 67,344,881		probably null	Het
Nkain3	C	A	4: 20,282,985	R116L	possibly damaging	Het
Nxph2	A	C	2: 23,400,272	Q212P	probably damaging	Het
Olfr268-ps1	T	C	2: 111,844,345		noncoding transcript	Het
Olfr726	A	G	14: 50,084,603	F26S	probably benign	Het
Otog	T	C	7: 46,285,124	Y1369H	probably damaging	Het
Prl	A	G	13: 27,064,351	I131V	possibly damaging	Het
Ptprg	A	T	14: 12,142,467	I373F	possibly damaging	Het
Rad18	A	T	6: 112,693,529	C25S	probably damaging	Het
Rgs12	A	G	5: 35,032,311	T678A	probably damaging	Het
Scaper	T	A	9: 55,858,115	E557V	probably damaging	Het
Scube3	C	T	17: 28,164,788	P511L	probably null	Het
Sgpl1	A	G	10: 61,104,452		probably benign	Het
Slc10a1	C	A	12: 80,967,804	E47D	probably damaging	Het
Sptbn4	T	C	7: 27,418,471	N369S	probably damaging	Het
Sstr5	T	C	17: 25,491,224	T344A	probably benign	Het
Tgm4	C	T	9: 123,066,752	T631I	probably benign	Het
Tmprss15	A	G	16: 79,024,438	Y457H	probably damaging	Het
Trpm7	A	T	2: 126,795,509		probably null	Het
Trpm7	A	T	2: 126,848,538	W207R	probably damaging	Het
Ttc26	A	G	6: 38,381,557		probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Usp2	A	T	9: 44,091,259	H384L	probably damaging	Het
Vmn2r27	C	T	6: 124,230,176	V169I	probably benign	Het
Vopp1	A	C	6: 57,762,476	F29C	probably damaging	Het
Wrn	T	C	8: 33,251,832	D953G	probably damaging	Het
Zfp759	T	A	13: 67,139,643	C419*	probably null	Het

Other mutations in Bmp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Bmp7	APN	2	172875262	missense	probably damaging	1.00
IGL01143:Bmp7	APN	2	172879482	missense	probably benign
IGL01636:Bmp7	APN	2	172875208	splice site	probably benign
IGL02331:Bmp7	APN	2	172872931	missense	probably damaging	1.00
IGL03211:Bmp7	APN	2	172872883	missense	possibly damaging	0.70
R1957:Bmp7	UTSW	2	172939921	missense	probably damaging	0.97
R2044:Bmp7	UTSW	2	172939915	missense	possibly damaging	0.46
R3772:Bmp7	UTSW	2	172870222	missense	probably damaging	1.00
R6716:Bmp7	UTSW	2	172872889	missense	probably damaging	1.00
R6774:Bmp7	UTSW	2	172872958	missense	probably damaging	1.00
R6864:Bmp7	UTSW	2	172940062	missense	probably benign	0.00
R6904:Bmp7	UTSW	2	172872913	missense	probably damaging	0.97
R7295:Bmp7	UTSW	2	172939897	missense	probably damaging	1.00
R7390:Bmp7	UTSW	2	172870205	missense	probably damaging	1.00
R7392:Bmp7	UTSW	2	172870205	missense	probably damaging	1.00
R7560:Bmp7	UTSW	2	172939964	missense	possibly damaging	0.85
R7871:Bmp7	UTSW	2	172939991	missense	probably benign	0.00
R7938:Bmp7	UTSW	2	172879490	missense	probably benign	0.44
R8790:Bmp7	UTSW	2	172870267	missense	probably benign	0.08
R8927:Bmp7	UTSW	2	172879418	missense	probably damaging	0.99
R8928:Bmp7	UTSW	2	172879418	missense	probably damaging	0.99
R9458:Bmp7	UTSW	2	172879475	missense	possibly damaging	0.83
R9470:Bmp7	UTSW	2	172870167	missense	probably damaging	1.00
X0024:Bmp7	UTSW	2	172939801	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- AACGGTTTGAAGGGACATTCAC -3'
(R):5'- CGAGTCAATGGCATGGACAG -3'

Sequencing Primer
(F):5'- TCATCTGGACGAGGGCCTAAC -3'
(R):5'- CAGAAAGGAACCGGACACTAAATTG -3'

Posted On

2015-07-06