|Institutional Source||Beutler Lab|
|Gene Name||cholecystokinin B receptor|
|Synonyms||CCK2/gastrin, CCK2R, CCKR-2, CCK-B/gastrin receptor|
|Is this an essential gene?||Probably non essential (E-score: 0.074)|
|Stock #||R7194 (G1)|
|Chromosomal Location||105425731-105470898 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 105435345 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 429 (E429K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033189 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033189] [ENSMUST00000181339]|
|Predicted Effect||possibly damaging
AA Change: E429K
PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: E429K
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
FUNCTION: This gene encodes a multipass transmembrane receptor protein expressed in the central nervous system and gastrointestinal tract. Cholecystokinin and gastrin bind to the encoded protein to stimulate gastric acid secretion and mucosal growth in the gastrointestinal tract, and anxiety, pain sensation and memory in the brain. Mice lacking the encoded protein exhibit an increase in the basal gastric pH and gastrin levels in the bloodstream as well as mild hypocalcemia, secondary hyperparathyroidism and increased bone resorption. [provided by RefSeq, Apr 2015]
PHENOTYPE: Nullizygous mice show gastic mucoca defects, high gastic pH and hypergastrenemia. Homozygotes for a null allele also exhibit higher energy intake and expenditure, less susceptibility to endotoxin shock, altered pain and mechanical sensitivity, and behavioral changes to isolation and addictive drugs. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cckbr||
(F):5'- TGTTGGCTGCCAGTGTACAG -3'
(R):5'- TACCACCTGAATTAATCCCGG -3'
(F):5'- TGTACAGCGCCAACACGTG -3'
(R):5'- ACCACCTGAATTAATCCCGGATTTTG -3'