|Institutional Source||Beutler Lab|
|Gene Name||smoothened, frizzled class receptor|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1438 (G1)|
|Chromosomal Location||29735503-29761365 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 29755483 bp|
|Amino Acid Change||Valine to Isoleucine at position 385 (V385I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001812 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001812]|
|Predicted Effect||possibly damaging
AA Change: V385I
PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: V385I
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1072|
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. [provided by RefSeq, Jul 2010]
PHENOTYPE: Both an ENU-induced mutation and a null mutation are midgestation lethal. Observed defects include failure of neural tube closure and heart and gut defects. Conditional knockouts in chondrocytes and dental epithelium result in short long bones and dentalepithelium derivative defects, respectively. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Smo||
(F):5'- CATCTTCACAGCTCCAGTGAGACC -3'
(R):5'- GCTCAGCACACTATGTTACCTGGC -3'
(F):5'- AGTGAGACCCTGTCCTGTG -3'
(R):5'- AGTAGCCTCCCACAATAAGC -3'