Mutagenetix > Incidental Mutation

Incidental Mutation 'R7390:Bmp7'

573344

Institutional Source

Beutler Lab

Gene Symbol

Bmp7

Ensembl Gene

ENSMUSG00000008999

Gene Name

bone morphogenetic protein 7

Synonyms

OP1, osteogenic protein 1

MMRRC Submission

045472-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7390 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172709805-172782114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 172711998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 409 (D409N)

Ref Sequence

ENSEMBL: ENSMUSP00000009143 (fasta)

Gene Model

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

AlphaFold

P23359

Predicted Effect

probably damaging
Transcript: ENSMUST00000009143
AA Change: D409N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000009143
Gene: ENSMUSG00000008999
AA Change: D409N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (66/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,992,152 (GRCm39)	D291E	probably benign	Het
Abca9	C	T	11: 110,036,487 (GRCm39)	V541I	probably benign	Het
Adamts15	A	T	9: 30,822,404 (GRCm39)		probably null	Het
Adgrg7	A	G	16: 56,553,207 (GRCm39)	I630T	probably damaging	Het
Ahnak	A	G	19: 8,980,569 (GRCm39)	I618V	probably benign	Het
Amotl2	T	A	9: 102,608,889 (GRCm39)	V801E	probably damaging	Het
Ankrd17	T	C	5: 90,430,779 (GRCm39)	T1002A	probably benign	Het
Bpifb2	A	G	2: 153,731,726 (GRCm39)	N293S	possibly damaging	Het
Ccdc162	A	G	10: 41,510,044 (GRCm39)	C854R	probably benign	Het
Ccdc171	A	G	4: 83,736,304 (GRCm39)	E1225G	probably damaging	Het
Cep350	T	C	1: 155,741,833 (GRCm39)	E2146G	possibly damaging	Het
Ces1a	A	C	8: 93,771,469 (GRCm39)		probably null	Het
Cfap45	T	G	1: 172,368,925 (GRCm39)	D444E	probably benign	Het
Cfap61	T	C	2: 145,843,802 (GRCm39)	V296A	probably benign	Het
Cgnl1	C	T	9: 71,552,931 (GRCm39)	R1011H	probably benign	Het
Cops4	C	T	5: 100,691,741 (GRCm39)	R347C	probably damaging	Het
D16Ertd472e	G	T	16: 78,344,576 (GRCm39)	D177E	probably benign	Het
Dcdc2a	T	C	13: 25,291,600 (GRCm39)	V195A	possibly damaging	Het
Dipk2a	A	G	9: 94,419,436 (GRCm39)	S165P	probably damaging	Het
Dpagt1	G	A	9: 44,243,319 (GRCm39)	V285I	probably benign	Het
Dspp	G	T	5: 104,323,552 (GRCm39)	A232S	probably damaging	Het
Efcab3	T	C	11: 104,615,411 (GRCm39)	I726T	possibly damaging	Het
Ephx2	G	A	14: 66,347,904 (GRCm39)			Het
Fat1	T	C	8: 45,405,511 (GRCm39)	V754A	possibly damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Gldc	A	T	19: 30,077,314 (GRCm39)	S953T	possibly damaging	Het
Gm1123	T	C	9: 98,893,033 (GRCm39)	N315S	probably benign	Het
Golga2	A	G	2: 32,178,202 (GRCm39)	E37G		Het
Gpr139	T	A	7: 118,743,835 (GRCm39)	Q250L	probably benign	Het
Grik3	C	T	4: 125,543,532 (GRCm39)	R283C	probably damaging	Het
Haao	A	C	17: 84,154,081 (GRCm39)	V22G	probably damaging	Het
Hspg2	T	A	4: 137,266,490 (GRCm39)	F1884I	probably damaging	Het
Hyal3	G	A	9: 107,462,166 (GRCm39)	G67S	probably damaging	Het
Kbtbd3	T	A	9: 4,330,424 (GRCm39)	I266K	probably benign	Het
Klhl26	A	C	8: 70,905,499 (GRCm39)	L137R	probably damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lars1	A	G	18: 42,343,083 (GRCm39)		probably null	Het
Lats1	C	T	10: 7,577,859 (GRCm39)	Q328*	probably null	Het
Lingo3	G	A	10: 80,670,463 (GRCm39)	T489I	probably damaging	Het
Lmtk2	T	C	5: 144,066,261 (GRCm39)	V65A	possibly damaging	Het
Lysmd1	T	C	3: 95,045,795 (GRCm39)	S211P	probably damaging	Het
Med15	C	T	16: 17,540,626 (GRCm39)	S21N	unknown	Het
Nav1	T	C	1: 135,512,656 (GRCm39)	T135A	probably benign	Het
Nt5c1a	G	C	4: 123,102,272 (GRCm39)	R66T	probably benign	Het
Pclo	T	C	5: 14,732,024 (GRCm39)	Y3509H	unknown	Het
Pkp4	G	A	2: 59,140,484 (GRCm39)	G397R	possibly damaging	Het
Ppp1r21	G	A	17: 88,856,958 (GRCm39)	A138T	probably benign	Het
Pum3	A	T	19: 27,401,642 (GRCm39)	V136D	probably benign	Het
Rab11fip3	A	T	17: 26,287,126 (GRCm39)	D342E	possibly damaging	Het
Rcvrn	T	A	11: 67,590,883 (GRCm39)	W156R	probably damaging	Het
Rspry1	C	T	8: 95,349,813 (GRCm39)	T67I	probably benign	Het
Serpina1d	T	C	12: 103,734,037 (GRCm39)	D89G	possibly damaging	Het
Sgsm3	T	A	15: 80,893,021 (GRCm39)	V366E	possibly damaging	Het
Shank3	T	G	15: 89,433,515 (GRCm39)	L1420R	probably benign	Het
Sirpb1b	A	T	3: 15,608,100 (GRCm39)	L215*	probably null	Het
Slc16a13	C	T	11: 70,109,797 (GRCm39)	V235I	probably benign	Het
Slc16a14	T	C	1: 84,907,187 (GRCm39)	D29G	probably benign	Het
Speer1a	T	C	5: 11,394,879 (GRCm39)	V122A	probably benign	Het
Spns2	T	A	11: 72,347,704 (GRCm39)	T329S	possibly damaging	Het
Sufu	G	A	19: 46,439,108 (GRCm39)		probably null	Het
Tll2	A	G	19: 41,108,608 (GRCm39)		probably null	Het
Trim10	G	A	17: 37,180,773 (GRCm39)	M1I	probably null	Het
Trim42	A	C	9: 97,241,182 (GRCm39)	N683K	probably damaging	Het
Trmt5	A	G	12: 73,328,394 (GRCm39)	S270P	probably damaging	Het
Vmn1r59	C	A	7: 5,456,986 (GRCm39)	R258L	possibly damaging	Het
Vmn2r32	A	G	7: 7,482,851 (GRCm39)	L41S	probably benign	Het
Vmn2r93	A	T	17: 18,525,329 (GRCm39)	E329V	probably damaging	Het
Ywhae	G	T	11: 75,655,487 (GRCm39)	E253*	probably null	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
R6774:Bmp7	UTSW	2	172,714,751 (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
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'- CTTACATGCTTCCGGTTGGG -3'
(R):5'- CCTTTATGGTCATCTTAGCCAGAG -3'

Sequencing Primer
(F):5'- AGGCTCAGGAGAGGTTGGTC -3'
(R):5'- TGGTCATCTTAGCCAGAGAATAG -3'

Posted On

2019-09-13