|Institutional Source||Beutler Lab|
|Gene Name||adenylate cyclase activating polypeptide 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.310)|
|Stock #||R4935 (G1)|
|Chromosomal Location||93199422-93205485 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 93204113 bp|
|Amino Acid Change||Isoleucine to Leucine at position 172 (I172L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000067057 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000064775]|
|Predicted Effect||probably benign
AA Change: I172L
PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
AA Change: I172L
|Coding Region Coverage||
FUNCTION: This gene encodes a member of the glucagon superfamily of hormones that have important roles in growth and metabolism. The encoded protein undergoes proteolytic processing to generate mature peptides that function as hypophysiotropic hormones, neurotransmitters, neuromodulators and vasoregulators. Mice lacking the encoded protein exhibit a high rate of early mortality. The surviving adult animals lacking the encoded protein exhibit decreased anxiety, hyperactive behavior and impaired steroidogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit high postnatal mortality, impaired thermoregulation, and loss of white fat. Survivors show ketosis, microvesicular fat accumulation, elevated serum lipids, and behavioral abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adcyap1||
(F):5'- AGCGACTCAATGTGTCTCCC -3'
(R):5'- GGTCCACAAAGTATATCTGTGCATTC -3'
(F):5'- AATGTGTCTCCCGCCCCG -3'
(R):5'- AGTATATCTGTGCATTCTCTAGTGC -3'