|Institutional Source||Beutler Lab|
|Gene Name||angiotensin I converting enzyme (peptidyl-dipeptidase A) 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8731 (G1)|
|Chromosomal Location||105967945-105989964 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 105970600 bp (GRCm38)|
|Amino Acid Change||Phenylalanine to Isoleucine at position 192 (F192I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001963 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001963] [ENSMUST00000001964]|
AA Change: F192I
PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: F192I
|Meta Mutation Damage Score||0.3589|
|Coding Region Coverage||
|Validation Efficiency||100% (48/48)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a number of different targeted mutations show variable phenotypes, including reduced systemic blood pressure, normocytic anemia, renal abnormalities, inability to concentrate urine, and reduced male fertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ace||
(F):5'- TTAGACGTTTTCCTGGGAGC -3'
(R):5'- ATCTAGCTCAGGGGTTTAGGGC -3'
(F):5'- TTTCCTGGGAGCAGGGTCC -3'
(R):5'- TTAGGGCTCACTGGGGAC -3'