Incidental Mutation 'IGL03411:Agtr1a'
ID421787
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agtr1a
Ensembl Gene ENSMUSG00000049115
Gene Nameangiotensin II receptor, type 1a
SynonymsAngtr-1a, Agtr1a, Agtr-1a, 1810074K20Rik, AT1, AT1a
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03411
Quality Score
Status
Chromosome13
Chromosomal Location30336441-30382867 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30381599 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 216 (T216A)
Ref Sequence ENSEMBL: ENSMUSP00000070958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066412] [ENSMUST00000221743] [ENSMUST00000222370] [ENSMUST00000222503] [ENSMUST00000223201]
Predicted Effect possibly damaging
Transcript: ENSMUST00000066412
AA Change: T216A

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000070958
Gene: ENSMUSG00000049115
AA Change: T216A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 39 316 8.2e-10 PFAM
Pfam:7tm_1 45 302 1.8e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221743
Predicted Effect probably benign
Transcript: ENSMUST00000222370
Predicted Effect probably benign
Transcript: ENSMUST00000222503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222575
Predicted Effect probably benign
Transcript: ENSMUST00000223201
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,399,560 I305T probably damaging Het
Adamts18 G A 8: 113,764,297 Q513* probably null Het
Adamts6 A G 13: 104,314,334 I342V possibly damaging Het
Coro1b A G 19: 4,150,226 probably benign Het
Cyp4a10 G A 4: 115,525,693 probably null Het
Cyp4x1 T A 4: 115,108,785 Q448L probably benign Het
Ddx60 A T 8: 61,977,882 probably null Het
Exoc1 C A 5: 76,542,195 A194D probably damaging Het
Fastkd1 A C 2: 69,707,359 V293G probably damaging Het
Gm5773 T C 3: 93,773,957 L312P probably damaging Het
Hhla1 A G 15: 65,930,229 probably null Het
Hmcn2 A T 2: 31,346,637 E397D possibly damaging Het
Lig1 C T 7: 13,296,768 R449C probably damaging Het
Mdc1 A G 17: 35,853,126 T1189A probably benign Het
Muc4 G A 16: 32,754,318 M1397I probably benign Het
Myh15 A G 16: 49,159,967 E1484G possibly damaging Het
Neb T C 2: 52,292,878 I1019V probably benign Het
Nid1 T C 13: 13,437,889 L63P probably damaging Het
Ogfod3 A T 11: 121,177,804 *316R probably null Het
Olfr5 T C 7: 6,480,436 K240R probably benign Het
Pdpk1 A T 17: 24,101,644 V193E probably damaging Het
Phf3 G T 1: 30,804,401 P1826T probably damaging Het
Pnliprp2 A G 19: 58,760,415 I51V probably benign Het
Prpf4b C T 13: 34,895,359 L739F probably damaging Het
Rcbtb1 T A 14: 59,209,970 M1K probably null Het
Rin2 A G 2: 145,860,944 E520G probably damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Shpk A G 11: 73,215,035 T238A probably benign Het
Tmem132d A T 5: 127,984,283 Y418* probably null Het
Tpte T C 8: 22,325,537 V212A possibly damaging Het
Trim55 A T 3: 19,659,190 Y135F probably damaging Het
Ttn C T 2: 76,768,112 A19486T probably damaging Het
Vmn2r59 A T 7: 42,058,916 N22K probably benign Het
Vmn2r63 T C 7: 42,927,944 D390G probably benign Het
Vmn2r96 A G 17: 18,586,372 E527G possibly damaging Het
Vps13d C T 4: 145,149,324 E1538K probably damaging Het
Zfp64 T C 2: 168,951,542 probably null Het
Zfp827 A G 8: 79,076,487 S563G probably damaging Het
Other mutations in Agtr1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01365:Agtr1a APN 13 30381828 missense probably damaging 1.00
IGL01738:Agtr1a APN 13 30381038 missense probably benign 0.00
IGL01870:Agtr1a APN 13 30381327 missense probably damaging 1.00
IGL02293:Agtr1a APN 13 30381357 missense probably benign
R0012:Agtr1a UTSW 13 30381749 missense probably damaging 0.99
R0148:Agtr1a UTSW 13 30381944 missense probably benign 0.33
R0584:Agtr1a UTSW 13 30381034 missense probably damaging 1.00
R0622:Agtr1a UTSW 13 30381681 missense probably benign 0.00
R0730:Agtr1a UTSW 13 30381296 missense probably damaging 1.00
R1195:Agtr1a UTSW 13 30381918 missense probably damaging 0.99
R1195:Agtr1a UTSW 13 30381918 missense probably damaging 0.99
R1195:Agtr1a UTSW 13 30381918 missense probably damaging 0.99
R4075:Agtr1a UTSW 13 30381834 missense probably damaging 1.00
R4757:Agtr1a UTSW 13 30381859 nonsense probably null
R5677:Agtr1a UTSW 13 30381584 missense probably damaging 1.00
R5722:Agtr1a UTSW 13 30382033 makesense probably null
R6355:Agtr1a UTSW 13 30381499 missense probably benign 0.04
R6633:Agtr1a UTSW 13 30381467 missense probably benign 0.01
R7325:Agtr1a UTSW 13 30381907 missense possibly damaging 0.86
R7358:Agtr1a UTSW 13 30380979 missense probably benign 0.05
R7465:Agtr1a UTSW 13 30381981 missense probably benign 0.03
X0025:Agtr1a UTSW 13 30381468 missense probably benign 0.29
Posted On2016-08-02