|Institutional Source||Beutler Lab|
|Gene Name||angiotensin II receptor, type 1a|
|Synonyms||Angtr-1a, Agtr1a, Agtr-1a, 1810074K20Rik, AT1, AT1a|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0622 (G1)|
|Chromosomal Location||30336441-30382867 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 30381681 bp (GRCm38)|
|Amino Acid Change||Methionine to Lysine at position 243 (M243K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000070958 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000066412] [ENSMUST00000221743] [ENSMUST00000222370] [ENSMUST00000222503] [ENSMUST00000223201]|
AA Change: M243K
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: M243K
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Multiple alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous inactivation of this gene causes hypotension and hyperreninemia, alters drinking behavior and vascular and hemodynamic responses to angiotensin II, and may lead to abnormal physiological response to xenobiotics, abnormal kidney morphology, andreduced cell numbers in specific brain areas. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Agtr1a||
(F):5'- GGAATTCAACGCTCCCCATAGGAC -3'
(R):5'- TCAGGGCATTACATTGCCAGCAAG -3'
(F):5'- TCCCCATAGGACTGGGC -3'
(R):5'- TTGCCAGCAAGCTTTGAAC -3'