Mutagenetix > Incidental Mutation

Incidental Mutation 'R6904:Bmp7'

538671

Institutional Source

Beutler Lab

Gene Symbol

Bmp7

Ensembl Gene

ENSMUSG00000008999

Gene Name

bone morphogenetic protein 7

Synonyms

OP1, osteogenic protein 1

MMRRC Submission

045033-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6904 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

172709805-172782114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172714706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 368 (S368P)

Ref Sequence

ENSEMBL: ENSMUSP00000009143 (fasta)

Gene Model

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

AlphaFold

P23359

Predicted Effect

probably damaging
Transcript: ENSMUST00000009143
AA Change: S368P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000009143
Gene: ENSMUSG00000008999
AA Change: S368P

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: 99.2%
20x: 97.2%

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. 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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,516 (GRCm39)	Y406*	probably null	Het
Acadvl	T	C	11: 69,905,159 (GRCm39)	D109G	probably benign	Het
Adam24	G	A	8: 41,134,542 (GRCm39)	G670E	probably damaging	Het
Angpt1	T	C	15: 42,323,136 (GRCm39)	M378V	probably benign	Het
Ankrd33	G	A	15: 101,014,993 (GRCm39)		probably null	Het
Apol7b	G	A	15: 77,307,625 (GRCm39)	T290I	probably benign	Het
Atg4a-ps	A	G	3: 103,553,180 (GRCm39)	W54R	probably damaging	Het
B3glct	A	G	5: 149,663,069 (GRCm39)		probably null	Het
Boc	A	G	16: 44,312,154 (GRCm39)	V636A	probably damaging	Het
Cacna1i	G	A	15: 80,259,002 (GRCm39)	R1237H	probably damaging	Het
Cdcp1	T	C	9: 123,002,980 (GRCm39)	D697G	probably benign	Het
Cep85l	T	C	10: 53,225,194 (GRCm39)	T132A	probably benign	Het
Ces1b	T	A	8: 93,787,038 (GRCm39)	Y447F	probably damaging	Het
Cfhr4	T	G	1: 139,659,391 (GRCm39)	N642H	possibly damaging	Het
Cntn4	A	T	6: 106,674,544 (GRCm39)	T1015S	probably benign	Het
Eea1	T	G	10: 95,838,741 (GRCm39)		probably null	Het
Fcgbpl1	C	T	7: 27,836,638 (GRCm39)	R186C	probably damaging	Het
Hipk1	A	T	3: 103,684,828 (GRCm39)	N262K	possibly damaging	Het
Jmjd8	G	A	17: 26,048,026 (GRCm39)	R41H	possibly damaging	Het
Klhl3	T	A	13: 58,178,259 (GRCm39)	T344S	probably damaging	Het
Krt39	T	C	11: 99,410,647 (GRCm39)	D175G	probably damaging	Het
Map4k1	A	G	7: 28,686,227 (GRCm39)	Y81C	probably damaging	Het
Mpdu1	T	A	11: 69,549,411 (GRCm39)	T95S	probably benign	Het
Myl12b	A	T	17: 71,284,135 (GRCm39)	I31N	probably damaging	Het
Ndufaf5	T	A	2: 140,030,700 (GRCm39)	Y195*	probably null	Het
Or4c119	G	A	2: 88,987,157 (GRCm39)	R121C	possibly damaging	Het
Or4d5	T	C	9: 40,012,652 (GRCm39)	I45V	probably benign	Het
Or51v15-ps1	A	T	7: 103,278,790 (GRCm39)	F126I	probably benign	Het
Or52z12	T	A	7: 103,233,727 (GRCm39)	I166N	possibly damaging	Het
Or5w17	A	G	2: 87,584,223 (GRCm39)	V38A	probably benign	Het
Oxgr1	T	A	14: 120,259,431 (GRCm39)	I259F	possibly damaging	Het
Pcdhb9	T	A	18: 37,534,970 (GRCm39)	D321E	probably benign	Het
Pi4kb	G	T	3: 94,900,461 (GRCm39)	R392L	probably damaging	Het
Pramel18	G	A	4: 101,767,291 (GRCm39)	C180Y	possibly damaging	Het
Prss41	T	C	17: 24,056,622 (GRCm39)	K151R	probably benign	Het
Rev3l	T	A	10: 39,697,477 (GRCm39)	V658D	probably benign	Het
Snx4	A	G	16: 33,115,108 (GRCm39)	I430V	probably damaging	Het
Tanc2	C	T	11: 105,726,056 (GRCm39)	H407Y	possibly damaging	Het
Tcf25	G	A	8: 124,127,437 (GRCm39)		probably null	Het
Tsc22d1	A	T	14: 76,743,923 (GRCm39)	K24*	probably null	Het
Vmn2r30	A	G	7: 7,315,547 (GRCm39)	F762S	probably damaging	Het
Xrcc6	A	G	15: 81,913,323 (GRCm39)	T319A	probably benign	Het
Zbtb1	C	T	12: 76,432,985 (GRCm39)	R324*	probably null	Het
Zc3h7a	A	G	16: 10,963,535 (GRCm39)	Y729H	probably damaging	Het
Zfp329	C	A	7: 12,540,457 (GRCm39)		probably benign	Het
Zfp456	A	T	13: 67,514,384 (GRCm39)	S441T	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
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
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'- TATGTCCACTGGGCATGAGG -3'

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

Posted On

2018-11-06