|Institutional Source||Beutler Lab|
|Gene Name||receptor tyrosine kinase-like orphan receptor 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2197 (G1)|
|Chromosomal Location||53109312-53286124 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (1 bp from exon)|
|DNA Base Change (assembly)||C to T at 53285780 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000021918 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021918] [ENSMUST00000130235]|
|Predicted Effect||probably null
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for some disruptions in this gene die within the first few hours after birth. They display respiratory and cardiovascular abnormalities as well as a variety of skeletal defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ror2||
(F):5'- AAACACTTAGTGGTCCCTAGAGC -3'
(R):5'- TGCAGTGAATCGGTGCATCG -3'
(F):5'- CGCAGCTCATTGGAACCAG -3'
(R):5'- ACCAGAGTGGCCCTCGAAG -3'