|Institutional Source||Beutler Lab|
|Synonyms||preprosomatostatin, Smst, SOM, SRIF|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4352 (G1)|
|Chromosomal Location||23889573-23890958 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 23889815 bp|
|Amino Acid Change||Serine to Proline at position 89 (S89P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004480 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004480]|
|Predicted Effect||probably damaging
AA Change: S89P
PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: S89P
|Meta Mutation Damage Score||0.126|
|Coding Region Coverage||
|Validation Efficiency||96% (79/82)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The hormone somatostatin has active 14 aa and 28 aa forms that are produced by alternate cleavage of the single preproprotein encoded by this gene. Somatostatin is expressed throughout the body and inhibits the release of numerous secondary hormones by binding to high-affinity G-protein-coupled somatostatin receptors. This hormone is an important regulator of the endocrine system through its interactions with pituitary growth hormone, thyroid stimulating hormone, and most hormones of the gastrointestinal tract. Somatostatin also affects rates of neurotransmission in the central nervous system and proliferation of both normal and tumorigenic cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show altered GH secretory dynamics, hypergastremia, and reduced hippocampal bursting and excitatory transmission. Mice homozygous for another null allele show impaired motor learning, higher GH and corticosterone levels,gastric fundus hyperplasia and hyperacidity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sst||
(F):5'- AGGGTCAAGTTGAGCATCGG -3'
(R):5'- CCCATATGATTGTGAAAACTGGG -3'
(F):5'- AAGTTGAGCATCGGGGGCC -3'
(R):5'- CATATGATTGTGAAAACTGGGTTTTG -3'