|Institutional Source||Beutler Lab|
|Gene Name||latent transforming growth factor beta binding protein 3|
|Is this an essential gene?||Probably non essential (E-score: 0.235)|
|Stock #||PIT4453001 (G1)|
|Chromosomal Location||5740904-5758532 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 5757794 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 1188 (E1188K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000080214 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025890] [ENSMUST00000081496]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: E1188K
PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: E1188K
|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 forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit craniofacial malformations including an overshot mandible and ossification of synchondroses. Mutants develop osteosclerosis of long bones and osteoarthritis, and, in some cases, high corticosterone levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ltbp3||
(F):5'- GAGTGAGAGCAATTCATTCTGGGAC -3'
(R):5'- TGGTTCAGTTCTCGGCACTC -3'
(F):5'- GCAATTCATTCTGGGACACAAG -3'
(R):5'- CACTCATCAATGTCTGCAAGGTGG -3'