|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably non essential (E-score: 0.069)|
|Stock #||R6334 (G1)|
|Chromosomal Location||100334407-100336996 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 100336612 bp|
|Amino Acid Change||Glutamine to Lysine at position 44 (Q44K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000017309 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000017309]|
|Predicted Effect||probably benign
AA Change: Q44K
PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
AA Change: Q44K
|Coding Region Coverage||
|Validation Efficiency||100% (64/64)|
FUNCTION: This gene encodes the peptide hormone gastrin, which stimulates gastric acid secretion, proliferation, cell migration and angiogenesis, as well as inhibits apoptosis. The encoded preproprotein undergoes proteolytic processing to generate multiple gastrin peptides differing in size. Mice lacking the encoded protein exhibit a decrease in the number of parietal cells, achlorohydria and a decrease in the colonic proliferation. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygotes for targeted null alleles exhibit an absence of gastric acid secretion, alterations in gastric architecture, fasting hypoglycemia with impaired glucagon response, and increased susceptibility to azoxymethane-induced colon tumors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gast||
(F):5'- ACCTCTGGGACTATGGAATAGC -3'
(R):5'- CTGCTTCTTGGACAGGTCTG -3'
(F):5'- GGACTATGGAATAGCCCCATCTTG -3'
(R):5'- CTTGGACAGGTCTGAGGAGGTAAC -3'