Agtr1a - SNV Details



 Gene Information 
Gene Name Agtr1a
Old Gene Names for Agtr1a Agtr-1a , Angtr-1a
Gene Description angiotensin II receptor, type 1a [Source:MGI Symbol;Acc:MGI:87964]
MGI phenotype Mice homozygous for a knock-out allele exhibit abnormal cardiovascular response to angiotensin II.
Uniprot Name
CCDS Name
Gene GO
response to estrogen stimulus; positive regulation of superoxide anion generation; regulation of smooth muscle cell apoptotic process; blood vessel development; membrane; regulation of renal output by angiotensin; vesicle lumen; integral to membrane; endomembrane system; phospholipase C-activating angiotensin-mediated signaling pathway; cytoplasm; regulation of systemic arterial blood pressure by circulatory renin-angiotensin; renin-angiotensin regulation of aldosterone production; positive regulation of receptor recycling; elevation of cytosolic calcium ion concentration; organelle outer membrane; protein binding; inflammatory response; kidney development; endosome; protein self-association; peptide hormone binding; vasoconstriction; angiotensin type II receptor activity; brain renin-angiotensin system; cellular response to dexamethasone stimulus; drinking behavior; aging; negative regulation of smooth muscle cell apoptotic process; dopamine biosynthetic process; G-protein coupled receptor signaling pathway; positive regulation of blood pressure; cytoplasmic vesicle; positive regulation of branching involved in ureteric bud morphogenesis; plasma membrane; regulation of pH; dendrite; positive regulation of cytokine secretion; heart development; renin secretion into blood stream; basolateral plasma membrane; phospholipase C-activating G-protein coupled receptor signaling pathway; angiotensin type I receptor activity; protein kinase binding; vesicle membrane; recycling endosome; activation of Janus kinase activity; G-protein alpha-subunit binding; positive regulation of cell proliferation; Golgi apparatus
Homolog in other species AGTR1
Omim http://omim.org/entry/106165
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN KIDNEY, LIVER, IMM.G2, LYMPHNODE, C2C12, UMBLICALCORD, OSTEO GROUP, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G3, GI GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000049115
Chromosome 13
Coordinate 30,381,828     (Assembly: GRCm38)    
Ref Base A
Codon Change tAt/tGt
Var Base G
Zygosity Heterozygous
Read Depth 147
Allele Frequency
A:R0.50
G:V0.50
Amino Acid Position 292
Amino Acid Change Y->C (Tyrosine -> Cysteine)
Sample ID IGL01365
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000070958:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Angiotensin II receptor type 1 ATII_AT1_rcpt IPR000190 ENSMUSP00000070958 Prints 282
293 Description available Search pathways
Chemokine receptor family Chemokine_rcpt IPR000355 ENSMUSP00000070958 Prints 280
294 Description available Search pathways

 Availability Details 
Availability Cryopreserved