Mutagenetix > Incidental Mutation

Incidental Mutation 'P0007:Ostn'

7575

Institutional Source

Beutler Lab

Gene Symbol

Ostn

Ensembl Gene

ENSMUSG00000052276

Gene Name

osteocrin

Synonyms

Ostc, musclin

MMRRC Submission

038263-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

P0007 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

27126239-27169962 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 27143279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 36 (G36*)

Ref Sequence

ENSEMBL: ENSMUSP00000067539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066852]

AlphaFold

P61364

Predicted Effect

probably null
Transcript: ENSMUST00000066852
AA Change: G36*

SMART Domains

Protein: ENSMUSP00000067539
Gene: ENSMUSG00000052276
AA Change: G36*

Domain	Start	End	E-Value	Type
Pfam:Musclin	1	130	1.3e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232586

Meta Mutation Damage Score

0.9666

Coding Region Coverage

1x: 85.2%
3x: 80.2%
10x: 65.3%
20x: 42.8%

Validation Efficiency

94% (102/109)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display impaired exercise endurance and impaired muscle adaptation to exercise. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	A	G	13: 104,433,999 (GRCm39)	T143A	possibly damaging	Het
Cfap74	T	A	4: 155,506,685 (GRCm39)	S139T	possibly damaging	Het
Fbxo7	T	C	10: 85,869,157 (GRCm39)	S204P	possibly damaging	Het
Itga2	A	T	13: 115,002,735 (GRCm39)	I585N	probably damaging	Het
Lgi3	A	G	14: 70,774,152 (GRCm39)	Y442C	probably damaging	Het
Magi1	A	G	6: 93,722,969 (GRCm39)	I530T	probably damaging	Het
Med12l	T	C	3: 58,998,816 (GRCm39)		probably benign	Het
Nbeal1	A	G	1: 60,358,847 (GRCm39)	I1176M	probably damaging	Het

Other mutations in Ostn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Ostn	APN	16	27,140,132 (GRCm39)	missense	possibly damaging	0.67
IGL02306:Ostn	APN	16	27,165,691 (GRCm39)	missense	probably damaging	0.96
R0827:Ostn	UTSW	16	27,143,381 (GRCm39)	missense	probably damaging	1.00
R4151:Ostn	UTSW	16	27,140,152 (GRCm39)	missense	probably benign	0.13
R7248:Ostn	UTSW	16	27,165,719 (GRCm39)	critical splice donor site	probably null
R7731:Ostn	UTSW	16	27,165,668 (GRCm39)	missense	probably damaging	1.00
R7982:Ostn	UTSW	16	27,140,189 (GRCm39)	critical splice donor site	probably null
R8338:Ostn	UTSW	16	27,143,285 (GRCm39)	missense	probably benign	0.01

Protein Function and Prediction

Osteocrin (Ostn) is a secreted protein produced by osteoblasts (1). Ostn binds specifically and saturably to the NP peptide receptor-C (NPR-C) receptor (2). Overexpression of Ostn resulted in animals that had elongated long bones and elevated bone cGMP levels (2).

Expression/Localization

In situ hybridization indicates that Ostn is highly expressed in the osteoblasts of cortical bones in embryonic mice (1). Other studies have detected expression in mesenchymal tissues, including muscle, tendons, and ligaments (2;3).

References

1. Thomas, G., Moffatt, P., Salois, P., Gaumond, M. H., Gingras, R., Godin, E., Miao, D., Goltzman, D., and Lanctot, C. (2003) Osteocrin, a Novel Bone-Specific Secreted Protein that Modulates the Osteoblast Phenotype. J Biol Chem. 278, 50563-50571.

2. Moffatt, P., Thomas, G., Sellin, K., Bessette, M. C., Lafreniere, F., Akhouayri, O., St-Arnaud, R., and Lanctot, C. (2007) Osteocrin is a Specific Ligand of the Natriuretic Peptide Clearance Receptor that Modulates Bone Growth. J Biol Chem. 282, 36454-36462.

3. Nishizawa, H., Matsuda, M., Yamada, Y., Kawai, K., Suzuki, E., Makishima, M., Kitamura, T., and Shimomura, I. (2004) Musclin, a Novel Skeletal Muscle-Derived Secretory Factor. J Biol Chem. 279, 19391-19395.

Posted On

2012-10-05

Science Writer

Anne Murray