|Institutional Source||Beutler Lab|
|Gene Name||apelin receptor|
|Synonyms||apelin receptor, APJ, Agtrl1, msr/apj|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||PIT4810001 (G1)|
|Chromosomal Location||85136225-85139923 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 85137284 bp|
|Amino Acid Change||Cysteine to Serine at position 218 (C218S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000053638 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057019] [ENSMUST00000184728]|
|Predicted Effect||probably damaging
AA Change: C218S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: C218S
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous systems, in glucose metabolism, in embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) coreceptor. Two transcript variants resulting from alternative splicing have been identified. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early lethality, decreased cardiac contractility, and decreased exercise endurance. Mice for another knock-out allele develop pulmonary venoocclusive disease with heart right ventricle hypertrophy and elevated pulmonary pressures. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aplnr||
(F):5'- CAGCAGTCTTATGGGTGCTG -3'
(R):5'- TCAAAGTCACAGGGCCAGTG -3'
(F):5'- GGCTGCCCTTCTAGCTGTG -3'
(R):5'- CAGGGCCAGTGCAGCAAAC -3'