Mutagenetix > Incidental Mutation

Incidental Mutation 'R1679:Bmp5'

188355

Institutional Source

Beutler Lab

Gene Symbol

Bmp5

Ensembl Gene

ENSMUSG00000032179

Gene Name

bone morphogenetic protein 5

Synonyms

MMRRC Submission

039715-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

R1679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75682646-75807592 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75746877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 245 (V245A)

Ref Sequence

ENSEMBL: ENSMUSP00000012281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012281]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000012281
AA Change: V245A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000012281
Gene: ENSMUSG00000032179
AA Change: V245A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:TGFb_propeptide	31	304	5.2e-94	PFAM
low complexity region	316	331	N/A	INTRINSIC
TGFB	353	454	3.54e-69	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137213

Meta Mutation Damage Score

0.0842

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (51/52)

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, which plays a role in bone and cartilage development. Mice with null mutations in this gene exhibit a short ear phenotype, which is characterized by reduced size of the external ear, altered size and shape of the sternum, and other skeletal and soft-tissue abnormalities. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous recessive mutants have shortened, slightly ruffled external ears due to a defective cartilage framework affecting the whole skeleton; a series of genomic deletions of the region cause embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	GCC	GC	13: 59,839,412 (GRCm39)		probably null	Het
Adam6a	A	G	12: 113,508,376 (GRCm39)	M250V	probably benign	Het
Adgre5	C	A	8: 84,456,034 (GRCm39)	R254L	probably benign	Het
Adgrv1	A	T	13: 81,707,671 (GRCm39)	L525Q	probably damaging	Het
Ano9	T	A	7: 140,688,210 (GRCm39)	I205F	probably benign	Het
Capn8	T	C	1: 182,441,032 (GRCm39)	S489P	probably damaging	Het
Ccdc85a	A	G	11: 28,533,316 (GRCm39)	L76P	probably damaging	Het
Cd164l2	A	G	4: 132,948,810 (GRCm39)	T49A	probably benign	Het
Cdc25c	T	C	18: 34,880,348 (GRCm39)	T129A	probably damaging	Het
Cfap43	T	C	19: 47,761,553 (GRCm39)	D847G	probably benign	Het
Crim1	G	A	17: 78,508,228 (GRCm39)	A11T	probably benign	Het
Cul9	A	T	17: 46,832,082 (GRCm39)	L1449H	possibly damaging	Het
Cyp2a22	T	A	7: 26,635,736 (GRCm39)	K276*	probably null	Het
Cyp2c50	C	A	19: 40,099,859 (GRCm39)	T430K	possibly damaging	Het
Ddb2	C	T	2: 91,064,595 (GRCm39)	R105Q	probably benign	Het
Emilin1	T	C	5: 31,077,543 (GRCm39)	Y900H	probably benign	Het
Eml3	T	C	19: 8,914,001 (GRCm39)	F100L	probably damaging	Het
Eps8l2	G	A	7: 140,940,970 (GRCm39)	G542D	probably damaging	Het
Fbf1	A	G	11: 116,041,843 (GRCm39)		probably null	Het
Gm21886	T	C	18: 80,132,954 (GRCm39)	Y68C	probably damaging	Het
H2-Q10	A	G	17: 35,784,492 (GRCm39)		probably benign	Het
Hebp2	G	T	10: 18,420,163 (GRCm39)	T90K	possibly damaging	Het
Il1rl2	A	G	1: 40,382,320 (GRCm39)	T211A	probably benign	Het
Incenp	T	C	19: 9,872,778 (GRCm39)	D16G	unknown	Het
Isg20l2	T	A	3: 87,839,392 (GRCm39)	M201K	probably damaging	Het
Kansl1	A	T	11: 104,314,822 (GRCm39)	S405R	probably damaging	Het
Kdsr	T	A	1: 106,680,956 (GRCm39)	I81F	probably benign	Het
Leprotl1	T	G	8: 34,607,986 (GRCm39)	L7F	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mtmr2	T	A	9: 13,700,373 (GRCm39)	I60K	probably damaging	Het
Mto1	A	G	9: 78,372,245 (GRCm39)	T572A	probably benign	Het
Nipbl	G	A	15: 8,332,396 (GRCm39)	T2287I	probably benign	Het
Nutm2	A	G	13: 50,623,422 (GRCm39)	T40A	probably benign	Het
Nxf1	T	C	19: 8,746,438 (GRCm39)	S550P	probably benign	Het
Or5p4	A	T	7: 107,680,859 (GRCm39)	N286I	probably damaging	Het
Phactr1	G	A	13: 43,210,756 (GRCm39)	V193I	possibly damaging	Het
Phactr1	A	T	13: 43,248,257 (GRCm39)	Y317F	possibly damaging	Het
Pih1d1	T	C	7: 44,809,250 (GRCm39)		probably null	Het
Rictor	T	C	15: 6,797,571 (GRCm39)	I309T	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ruvbl2	T	C	7: 45,074,391 (GRCm39)	D216G	probably damaging	Het
Slc20a2	T	G	8: 23,028,846 (GRCm39)	S106A	possibly damaging	Het
Srprb	A	G	9: 103,069,406 (GRCm39)		probably benign	Het
Stx11	A	T	10: 12,817,580 (GRCm39)	I48N	probably damaging	Het
Vmn1r29	A	T	6: 58,285,003 (GRCm39)	Y241F	probably damaging	Het
Wdfy1	A	T	1: 79,685,192 (GRCm39)	C347*	probably null	Het
Zfp683	T	C	4: 133,785,956 (GRCm39)	V361A	possibly damaging	Het

Other mutations in Bmp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01643:Bmp5	APN	9	75,746,895 (GRCm39)	missense	probably damaging	1.00
IGL02096:Bmp5	APN	9	75,805,833 (GRCm39)	missense	probably damaging	1.00
IGL02977:Bmp5	APN	9	75,801,081 (GRCm39)	missense	probably damaging	1.00
FR4976:Bmp5	UTSW	9	75,683,657 (GRCm39)	small deletion	probably benign
R1291:Bmp5	UTSW	9	75,793,955 (GRCm39)	nonsense	probably null
R2049:Bmp5	UTSW	9	75,801,072 (GRCm39)	missense	probably damaging	1.00
R2278:Bmp5	UTSW	9	75,683,830 (GRCm39)	missense	possibly damaging	0.90
R5159:Bmp5	UTSW	9	75,801,035 (GRCm39)	missense	probably damaging	1.00
R5431:Bmp5	UTSW	9	75,800,991 (GRCm39)	missense	probably damaging	1.00
R5756:Bmp5	UTSW	9	75,683,649 (GRCm39)	missense	probably benign
R5884:Bmp5	UTSW	9	75,805,836 (GRCm39)	missense	probably damaging	1.00
R6749:Bmp5	UTSW	9	75,683,375 (GRCm39)	start codon destroyed	probably benign	0.00
R7346:Bmp5	UTSW	9	75,780,642 (GRCm39)	missense	probably damaging	1.00
R7522:Bmp5	UTSW	9	75,683,384 (GRCm39)	missense	probably benign
R7736:Bmp5	UTSW	9	75,801,072 (GRCm39)	missense	probably damaging	1.00
R8226:Bmp5	UTSW	9	75,683,606 (GRCm39)	missense	probably damaging	1.00
R8462:Bmp5	UTSW	9	75,746,874 (GRCm39)	missense	probably benign	0.03
R8955:Bmp5	UTSW	9	75,805,835 (GRCm39)	missense	probably damaging	1.00
R8968:Bmp5	UTSW	9	75,780,579 (GRCm39)	missense	probably benign	0.01
R9281:Bmp5	UTSW	9	75,683,856 (GRCm39)	missense	probably benign	0.35
R9766:Bmp5	UTSW	9	75,800,982 (GRCm39)	missense	probably damaging	0.99
RF053:Bmp5	UTSW	9	75,683,656 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AATGGATGTCTCACCGCTTGCCAC -3'
(R):5'- CCCCTGCTCAAAGCTAGGCAATTC -3'

Sequencing Primer
(F):5'- GCTTGCCACTGGAGTCAC -3'
(R):5'- GCATTATCCTAAGGAATGTGTTGCC -3'

Posted On

2014-05-09