|Institutional Source||Beutler Lab|
|Gene Name||latent transforming growth factor beta binding protein 3|
|Is this an essential gene?||Probably non essential (E-score: 0.219)|
|Stock #||R6339 (G1)|
|Chromosomal Location||5740904-5758532 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 5747477 bp|
|Amino Acid Change||Histidine to Glutamine at position 414 (H414Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000080214 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081496]|
|Predicted Effect||probably damaging
AA Change: H414Q
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: H414Q
|Coding Region Coverage||
|Validation Efficiency||97% (69/71)|
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'- TCACAGAGGTTTCAGCGAGTC -3'
(R):5'- TGCTGTGGTCAAGATGCAGAC -3'
(F):5'- AGAGGTTTCAGCGAGTCCCATG -3'
(R):5'- GTGGTCAAGATGCAGACACCAC -3'