|Institutional Source||Beutler Lab|
|Gene Name||renin 1 structural|
|Synonyms||Ren-1, Ren1d, Ren1c, Ren, Ren-A, Rnr, Rn-1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1115 (G1)|
|Chromosomal Location||133350510-133360325 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 133356518 bp|
|Amino Acid Change||Valine to Aspartic acid at position 207 (V207D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000092135 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000094556] [ENSMUST00000112287]|
|Predicted Effect||probably damaging
AA Change: V207D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V207D
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (34/34)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Renin catalyzes the first step in the activation pathway of angiotensinogen--a cascade that can result in aldosterone release,vasoconstriction, and increase in blood pressure. Renin, an aspartyl protease, cleaves angiotensinogen to form angiotensin I, which is converted to angiotensin II by angiotensin I converting enzyme, an important regulator of blood pressure and electrolyte balance. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause familial hyperproreninemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to postnatal lethality, reduced plasma renin level, decreased mean arterial pressure, and kidney defects such as atrophy, altered juxtaglomerular cell and macula densa morphology, polyuria, decreased urine osmolality, and reduced glomerular filtration rate. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ren1||
(F):5'- TGGTATGAAAGCCAGAGCAGACCC -3'
(R):5'- GCACTAACCGGCTCAATGAGAGAAC -3'
(F):5'- AGACCCCAGCCGAGGTTAG -3'
(R):5'- GGGACCAAATGCTTGACTTC -3'