Mutagenetix > Incidental Mutation

Incidental Mutation 'R2278:Bmp5'

242916

Institutional Source

Beutler Lab

Gene Symbol

Bmp5

Ensembl Gene

ENSMUSG00000032179

Gene Name

bone morphogenetic protein 5

Synonyms

MMRRC Submission

040277-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

R2278 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75682646-75807592 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75683830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 152 (N152K)

Ref Sequence

ENSEMBL: ENSMUSP00000012281 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000012281
AA Change: N152K

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000012281
Gene: ENSMUSG00000032179
AA Change: N152K

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

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, 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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,201,400 (GRCm39)	D251G	probably damaging	Het
Aqp3	T	C	4: 41,093,836 (GRCm39)	D219G	probably damaging	Het
Arhgef15	C	A	11: 68,842,517 (GRCm39)	W404C	probably damaging	Het
Bdp1	T	A	13: 100,197,847 (GRCm39)	E846V	probably damaging	Het
Bdp1	C	A	13: 100,197,838 (GRCm39)	S849I	probably benign	Het
Bpifb2	C	T	2: 153,720,399 (GRCm39)	Q53*	probably null	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Clca3a1	A	G	3: 144,463,785 (GRCm39)	V164A	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Gcn1	T	C	5: 115,749,234 (GRCm39)	I1922T	probably damaging	Het
Gnpat	A	G	8: 125,603,659 (GRCm39)	D179G	probably benign	Het
Hook1	A	G	4: 95,886,957 (GRCm39)	Q188R	probably benign	Het
Hsf4	G	A	8: 105,996,628 (GRCm39)	D18N	probably null	Het
Ifi44	T	C	3: 151,438,025 (GRCm39)	N421D	probably benign	Het
Igdcc4	C	T	9: 65,038,025 (GRCm39)	T801I	probably damaging	Het
Itgad	T	C	7: 127,804,342 (GRCm39)	S107P	possibly damaging	Het
Kank2	C	A	9: 21,681,080 (GRCm39)	M816I	probably damaging	Het
Kcnk18	T	C	19: 59,223,926 (GRCm39)	I357T	probably damaging	Het
Kcnma1	T	A	14: 23,593,151 (GRCm39)	R120*	probably null	Het
Lgi4	T	G	7: 30,760,037 (GRCm39)	L78V	probably damaging	Het
Lypla1	T	G	1: 4,911,321 (GRCm39)		probably null	Het
Mknk1	C	T	4: 115,732,690 (GRCm39)	A306V	probably damaging	Het
Ncoa6	A	T	2: 155,249,570 (GRCm39)	S1245T	possibly damaging	Het
Npas3	T	A	12: 53,687,285 (GRCm39)	V122E	possibly damaging	Het
Nrxn2	G	C	19: 6,531,883 (GRCm39)	Q789H	probably damaging	Het
Or2h1b	A	T	17: 37,462,145 (GRCm39)	C239*	probably null	Het
Or3a1	T	C	11: 74,225,991 (GRCm39)	E22G	probably benign	Het
Or5p69	T	C	7: 107,967,288 (GRCm39)	V197A	probably benign	Het
Or5w12	A	G	2: 87,502,289 (GRCm39)	C141R	possibly damaging	Het
Otog	G	A	7: 45,949,468 (GRCm39)	V2369M	probably damaging	Het
Pfkp	T	C	13: 6,669,245 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,599,865 (GRCm39)	S478G	probably damaging	Het
Prune2	A	G	19: 17,095,919 (GRCm39)	I474M	possibly damaging	Het
Psg22	C	A	7: 18,460,762 (GRCm39)	Q464K	possibly damaging	Het
Rp1	C	T	1: 4,418,250 (GRCm39)	S954N	possibly damaging	Het
Rps27l	T	A	9: 66,854,208 (GRCm39)	D34E	probably benign	Het
Sae1	A	C	7: 16,104,291 (GRCm39)	L106R	probably damaging	Het
Siglec1	T	A	2: 130,913,257 (GRCm39)	Q1553L	probably benign	Het
Slc11a2	A	G	15: 100,307,962 (GRCm39)		probably null	Het
Slc14a2	A	T	18: 78,203,159 (GRCm39)	M556K	probably benign	Het
Slk	T	G	19: 47,608,188 (GRCm39)	I380M	probably damaging	Het
Spink5	A	G	18: 44,119,396 (GRCm39)	N236D	probably benign	Het
Syne2	A	G	12: 75,974,240 (GRCm39)	E1146G	possibly damaging	Het
Tiam2	G	A	17: 3,477,495 (GRCm39)	V573M	probably damaging	Het
Tmem170	C	A	8: 112,596,349 (GRCm39)	V59L	probably benign	Het
Tmem255b	C	T	8: 13,501,081 (GRCm39)	A106V	probably damaging	Het
Ttc23l	A	G	15: 10,523,678 (GRCm39)	I347T	possibly damaging	Het
Vps13c	A	G	9: 67,846,354 (GRCm39)	M2141V	probably benign	Het
Vwa5a	T	C	9: 38,634,503 (GRCm39)	Y143H	probably damaging	Het
Zfp280d	T	A	9: 72,246,055 (GRCm39)	C707*	probably null	Het
Zfp668	A	T	7: 127,465,998 (GRCm39)	N395K	probably benign	Het
Znhit6	G	T	3: 145,281,991 (GRCm39)		probably benign	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
R1679:Bmp5	UTSW	9	75,746,877 (GRCm39)	missense	probably benign
R2049:Bmp5	UTSW	9	75,801,072 (GRCm39)	missense	probably damaging	1.00
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'- GAAGACAACCCTGAGGAGTC -3'
(R):5'- GCTCTCAAAGGACCAAATTCTATC -3'

Sequencing Primer
(F):5'- CAACCCTGAGGAGTCGGAGTATTTG -3'
(R):5'- GGACCAAATTCTATCCAAATTGTGAC -3'

Posted On

2014-10-16