Mutagenetix > Incidental Mutation

Incidental Mutation 'R3104:Bmp4'

262973

Institutional Source

Beutler Lab

Gene Symbol

Bmp4

Ensembl Gene

ENSMUSG00000021835

Gene Name

bone morphogenetic protein 4

Synonyms

Bmp2b-1, Bmp2b1, Bmp2b, Bmp-4

MMRRC Submission

040578-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3104 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46620982-46628126 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46623438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 36 (A36V)

Ref Sequence

ENSEMBL: ENSMUSP00000098242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074077] [ENSMUST00000100676] [ENSMUST00000111826] [ENSMUST00000141358]

AlphaFold

P21275

Predicted Effect

probably benign
Transcript: ENSMUST00000074077
AA Change: A36V

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000073720
Gene: ENSMUSG00000021835
AA Change: A36V

Domain	Start	End	E-Value	Type
Pfam:TGFb_propeptide	13	276	1.7e-77	PFAM
TGFB	308	408	4.53e-67	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100676
AA Change: A36V

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000098242
Gene: ENSMUSG00000021835
AA Change: A36V

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:TGFb_propeptide	39	276	3.7e-55	PFAM
TGFB	308	408	4.53e-67	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135408

Predicted Effect

probably benign
Transcript: ENSMUST00000141358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147092

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228667

Meta Mutation Damage Score

0.0625

Coding Region Coverage

1x: 99.0%
3x: 98.4%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (57/57)

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 regulates heart development and adipogenesis. Homozygous knockout mice die in utero, while a conditional knockout mouse exhibits defects in heart development. Transgenic mice overexpressing this gene in a neuron-specific manner exhibit a phenotype resembling the rare hereditary connective tissue disease, fibrodysplasia ossificans progressiva. [provided by RefSeq, Jul 2016]
PHENOTYPE: Targeted mutants have wide ranging effects, including embryonic lethality, aberrant mesoderm differentation, developmental retardation and disorganized posterior structures; heterozygous null mutants display anomalies of the kidney and urinary tract; other targeted mutants display failure of lens induction and lack primordial germ cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ash1l	T	A	3: 88,961,693 (GRCm39)	V2355E	probably damaging	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Ccdc191	T	C	16: 43,751,573 (GRCm39)	F301S	probably damaging	Het
Cdh9	T	C	15: 16,855,900 (GRCm39)	S647P	probably damaging	Het
Cntln	C	T	4: 84,875,406 (GRCm39)	T280M	possibly damaging	Het
Coch	A	G	12: 51,650,204 (GRCm39)	T398A	probably benign	Het
Col6a3	T	C	1: 90,744,024 (GRCm39)	R515G	probably damaging	Het
Csmd1	A	G	8: 17,077,247 (GRCm39)	Y137H	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246 (GRCm39)	L662F	probably benign	Het
Cyp19a1	T	C	9: 54,094,083 (GRCm39)	I60V	probably benign	Het
Cyp2c68	C	T	19: 39,722,757 (GRCm39)	V264I	probably benign	Het
Dbx1	A	T	7: 49,286,417 (GRCm39)	L16H	probably damaging	Het
Dgkg	T	A	16: 22,394,091 (GRCm39)	T321S	probably damaging	Het
Dnah7c	T	A	1: 46,837,439 (GRCm39)	Y3951N	probably damaging	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Fam124b	T	A	1: 80,190,748 (GRCm39)	I212F	probably damaging	Het
Fam187b	A	G	7: 30,676,665 (GRCm39)	D58G	probably benign	Het
Galnt4	T	C	10: 98,945,243 (GRCm39)	Y323H	probably benign	Het
Gfpt1	A	G	6: 87,034,628 (GRCm39)	D142G	probably benign	Het
Gm5174	A	G	10: 86,492,519 (GRCm39)		noncoding transcript	Het
Gtf2ird2	G	A	5: 134,237,756 (GRCm39)	D278N	probably benign	Het
Herc2	T	A	7: 55,785,103 (GRCm39)	D1480E	probably benign	Het
Hnf4g	T	G	3: 3,717,916 (GRCm39)	S388R	probably benign	Het
Il1rap	A	G	16: 26,541,502 (GRCm39)	E581G	probably benign	Het
Itpr2	A	T	6: 146,214,335 (GRCm39)		probably null	Het
Lgr6	A	G	1: 134,928,210 (GRCm39)		probably null	Het
Lmod2	A	C	6: 24,604,471 (GRCm39)	K482T	probably damaging	Het
Magi3	A	G	3: 103,958,636 (GRCm39)	V483A	probably damaging	Het
Ncam2	A	G	16: 81,262,598 (GRCm39)		probably benign	Het
Nphs1	C	A	7: 30,166,965 (GRCm39)	S724*	probably null	Het
Or5t9	T	C	2: 86,660,035 (GRCm39)	M313T	probably benign	Het
Osgep	T	C	14: 51,154,286 (GRCm39)	T225A	probably benign	Het
Pcdhgc5	A	G	18: 37,954,727 (GRCm39)	E667G	possibly damaging	Het
Plce1	C	T	19: 38,608,963 (GRCm39)	P424L	probably benign	Het
Plekhg5	C	T	4: 152,196,635 (GRCm39)	T694M	probably damaging	Het
Prkag2	T	A	5: 25,076,067 (GRCm39)	K233*	probably null	Het
Prune2	T	A	19: 17,096,520 (GRCm39)	S675T	probably damaging	Het
Sars1	C	T	3: 108,336,621 (GRCm39)	R302H	probably damaging	Het
Sfmbt1	G	A	14: 30,539,753 (GRCm39)	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,241,203 (GRCm39)	T74A	probably benign	Het
Sppl2b	A	G	10: 80,703,325 (GRCm39)	E529G	probably benign	Het
Stradb	C	A	1: 59,031,450 (GRCm39)	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,574,357 (GRCm39)	C198*	probably null	Het
Tm4sf4	C	T	3: 57,345,043 (GRCm39)	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,939,019 (GRCm39)	S156G	probably damaging	Het
Tmem51	T	C	4: 141,765,035 (GRCm39)	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,801,124 (GRCm39)	T204A	possibly damaging	Het
Tsga10	G	A	1: 37,840,872 (GRCm39)	L445F	probably damaging	Het
Unc80	G	A	1: 66,662,450 (GRCm39)	V1768I	probably benign	Het
Urb1	C	T	16: 90,592,331 (GRCm39)	V310I	probably damaging	Het
Usp29	T	A	7: 6,965,052 (GRCm39)	C298*	probably null	Het
Usp8	T	C	2: 126,600,432 (GRCm39)	V1050A	probably damaging	Het
Vmn1r38	T	C	6: 66,753,430 (GRCm39)	T229A	probably benign	Het
Yes1	T	C	5: 32,810,515 (GRCm39)	S195P	probably damaging	Het

Other mutations in Bmp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02612:Bmp4	APN	14	46,621,938 (GRCm39)	missense	probably damaging	1.00
R0749:Bmp4	UTSW	14	46,622,070 (GRCm39)	missense	probably damaging	0.99
R1052:Bmp4	UTSW	14	46,621,360 (GRCm39)	missense	probably damaging	1.00
R3787:Bmp4	UTSW	14	46,623,171 (GRCm39)	critical splice donor site	probably null
R3938:Bmp4	UTSW	14	46,621,536 (GRCm39)	missense	probably damaging	1.00
R4768:Bmp4	UTSW	14	46,623,381 (GRCm39)	missense	probably damaging	1.00
R5102:Bmp4	UTSW	14	46,621,458 (GRCm39)	missense	probably damaging	1.00
R5367:Bmp4	UTSW	14	46,621,950 (GRCm39)	missense	possibly damaging	0.82
R5421:Bmp4	UTSW	14	46,623,355 (GRCm39)	missense	probably damaging	0.98
R7189:Bmp4	UTSW	14	46,621,456 (GRCm39)	missense	probably damaging	1.00
R8190:Bmp4	UTSW	14	46,621,972 (GRCm39)	missense	probably benign
R8915:Bmp4	UTSW	14	46,621,902 (GRCm39)	missense	probably damaging	1.00
Z1176:Bmp4	UTSW	14	46,622,085 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- GAAACTCCTCACAGTGTTGGC -3'
(R):5'- CGGTTGCTACCCCTATATGC -3'

Sequencing Primer
(F):5'- TCACAGTGTTGGCTCGGC -3'
(R):5'- GGTTGCTACCCCTATATGCATATG -3'

Posted On

2015-02-05