|Institutional Source||Beutler Lab|
|Gene Name||angiotensinogen (serpin peptidase inhibitor, clade A, member 8)|
|Synonyms||Aogen, angiotensin precursor, Serpina8|
|Is this an essential gene?||Probably non essential (E-score: 0.119)|
|Stock #||R0591 (G1)|
|Chromosomal Location||124556534-124569706 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 124556939 bp|
|Amino Acid Change||Serine to Arginine at position 480 (S480R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000066488 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034460] [ENSMUST00000063278]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: S480R
PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: S480R
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutation of this gene results in small body size and lower body fat, decreased blood pressure and hypotension, kidney abnormalities, polydipsia and polyuria. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Agt||
(F):5'- TTCTTCCAGAGTGGCAGTCCTGTG -3'
(R):5'- GCAGGTTCTCAATAGCATCCTCCTC -3'
(F):5'- TGTGCAGAGTGCCAGCTTC -3'
(R):5'- TCCTCGAACTCAAAGCAGGAG -3'