Incidental Mutation 'R5722:Agtr1a'
ID 452284
Institutional Source Beutler Lab
Gene Symbol Agtr1a
Ensembl Gene ENSMUSG00000049115
Gene Name angiotensin II receptor, type 1a
Synonyms Agtr-1a, AT1, 1810074K20Rik, Angtr-1a, Agt1ar, AT1a, Agtr1a
MMRRC Submission 043340-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5722 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 30520424-30566850 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 30566016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 360 (*360W)
Ref Sequence ENSEMBL: ENSMUSP00000070958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066412] [ENSMUST00000221743] [ENSMUST00000222370] [ENSMUST00000222503] [ENSMUST00000223201]
AlphaFold P29754
Predicted Effect probably null
Transcript: ENSMUST00000066412
AA Change: *360W
SMART Domains Protein: ENSMUSP00000070958
Gene: ENSMUSG00000049115
AA Change: *360W

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.0%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a G A 3: 32,772,194 (GRCm39) R164H probably damaging Het
Afg3l2 A G 18: 67,573,269 (GRCm39) Y178H probably benign Het
Arfgef1 A G 1: 10,209,109 (GRCm39) V1830A probably benign Het
Asic2 A T 11: 81,858,806 (GRCm39) S69T probably benign Het
Axin1 A T 17: 26,401,531 (GRCm39) N368Y probably damaging Het
Brme1 A G 8: 84,898,473 (GRCm39) E537G probably damaging Het
Ces1d G A 8: 93,904,756 (GRCm39) P328L probably benign Het
Cndp2 T A 18: 84,686,203 (GRCm39) K461* probably null Het
Cntnap5c A T 17: 58,620,852 (GRCm39) H977L probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Glg1 T C 8: 111,896,194 (GRCm39) T177A possibly damaging Het
Gm7168 T C 17: 14,169,824 (GRCm39) V397A probably benign Het
Hif1a T A 12: 73,988,533 (GRCm39) D535E probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ice1 T C 13: 70,763,219 (GRCm39) E173G possibly damaging Het
Ighmbp2 A G 19: 3,329,909 (GRCm39) V115A probably damaging Het
Irf2 A T 8: 47,271,831 (GRCm39) E101D possibly damaging Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kyat1 C T 2: 30,078,123 (GRCm39) C127Y probably damaging Het
Mrgpra4 T C 7: 47,630,755 (GRCm39) H282R probably benign Het
Npsr1 C A 9: 24,225,096 (GRCm39) P368Q probably damaging Het
Nwd1 G A 8: 73,401,872 (GRCm39) V839M probably damaging Het
Or51a43 T A 7: 103,717,930 (GRCm39) M103L probably damaging Het
Or6n2 G T 1: 173,897,436 (GRCm39) D191Y probably damaging Het
P4ha3 A G 7: 99,955,198 (GRCm39) D351G probably benign Het
Pard3b T A 1: 62,479,160 (GRCm39) probably null Het
Pgap6 CGGGG CGGGGG 17: 26,339,536 (GRCm39) probably null Het
Pik3c2b G T 1: 133,031,574 (GRCm39) G1505W probably damaging Het
Plppr5 A T 3: 117,414,714 (GRCm39) I112L probably benign Het
Potefam1 T A 2: 111,034,468 (GRCm39) T355S probably benign Het
Ptprq A G 10: 107,522,226 (GRCm39) I575T possibly damaging Het
Ranbp3l A G 15: 9,029,656 (GRCm39) E46G probably damaging Het
Rbm46 A G 3: 82,772,640 (GRCm39) V164A possibly damaging Het
Sap25 A G 5: 137,639,713 (GRCm39) E13G probably benign Het
Setbp1 A T 18: 78,899,860 (GRCm39) V1269E possibly damaging Het
Smgc T A 15: 91,726,109 (GRCm39) S18R possibly damaging Het
Snrk T C 9: 121,993,072 (GRCm39) I345T probably benign Het
Sp4 T A 12: 118,262,976 (GRCm39) I357F possibly damaging Het
Sra1 A G 18: 36,808,031 (GRCm39) L399P probably damaging Het
Stat6 A G 10: 127,494,242 (GRCm39) T658A probably benign Het
Sv2a G A 3: 96,092,339 (GRCm39) R13H probably benign Het
Thoc3 G T 13: 54,608,014 (GRCm39) T310N probably damaging Het
Tox3 A C 8: 91,074,489 (GRCm39) probably null Het
Trpc6 A G 9: 8,680,550 (GRCm39) E848G possibly damaging Het
Ttn T A 2: 76,538,590 (GRCm39) T34703S possibly damaging Het
Ttn T C 2: 76,776,312 (GRCm39) I1577V probably damaging Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Ugt2b36 C T 5: 87,240,297 (GRCm39) W29* probably null Het
Wdr17 C T 8: 55,113,806 (GRCm39) probably null Het
Zfp790 C A 7: 29,529,514 (GRCm39) S733* probably null Het
Other mutations in Agtr1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01365:Agtr1a APN 13 30,565,811 (GRCm39) missense probably damaging 1.00
IGL01738:Agtr1a APN 13 30,565,021 (GRCm39) missense probably benign 0.00
IGL01870:Agtr1a APN 13 30,565,310 (GRCm39) missense probably damaging 1.00
IGL02293:Agtr1a APN 13 30,565,340 (GRCm39) missense probably benign
IGL03411:Agtr1a APN 13 30,565,582 (GRCm39) missense possibly damaging 0.49
R0012:Agtr1a UTSW 13 30,565,732 (GRCm39) missense probably damaging 0.99
R0148:Agtr1a UTSW 13 30,565,927 (GRCm39) missense probably benign 0.33
R0584:Agtr1a UTSW 13 30,565,017 (GRCm39) missense probably damaging 1.00
R0622:Agtr1a UTSW 13 30,565,664 (GRCm39) missense probably benign 0.00
R0730:Agtr1a UTSW 13 30,565,279 (GRCm39) missense probably damaging 1.00
R1195:Agtr1a UTSW 13 30,565,901 (GRCm39) missense probably damaging 0.99
R1195:Agtr1a UTSW 13 30,565,901 (GRCm39) missense probably damaging 0.99
R1195:Agtr1a UTSW 13 30,565,901 (GRCm39) missense probably damaging 0.99
R4075:Agtr1a UTSW 13 30,565,817 (GRCm39) missense probably damaging 1.00
R4757:Agtr1a UTSW 13 30,565,842 (GRCm39) nonsense probably null
R5677:Agtr1a UTSW 13 30,565,567 (GRCm39) missense probably damaging 1.00
R6355:Agtr1a UTSW 13 30,565,482 (GRCm39) missense probably benign 0.04
R6633:Agtr1a UTSW 13 30,565,450 (GRCm39) missense probably benign 0.01
R7325:Agtr1a UTSW 13 30,565,890 (GRCm39) missense possibly damaging 0.86
R7358:Agtr1a UTSW 13 30,564,962 (GRCm39) missense probably benign 0.05
R7465:Agtr1a UTSW 13 30,565,964 (GRCm39) missense probably benign 0.03
R8241:Agtr1a UTSW 13 30,565,082 (GRCm39) missense probably damaging 1.00
R8310:Agtr1a UTSW 13 30,565,745 (GRCm39) missense probably benign 0.23
R8717:Agtr1a UTSW 13 30,565,357 (GRCm39) missense probably damaging 1.00
R8938:Agtr1a UTSW 13 30,565,049 (GRCm39) missense probably damaging 1.00
R9556:Agtr1a UTSW 13 30,565,073 (GRCm39) missense probably damaging 1.00
X0025:Agtr1a UTSW 13 30,565,451 (GRCm39) missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- GCCATGCCCATAACCATCTG -3'
(R):5'- CTTCAAAGCTTTCTCTCAGAGC -3'

Sequencing Primer
(F):5'- GCGTATTTTAACAACTGCCTGAACC -3'
(R):5'- CATTTAGTCCGATGCTGC -3'
Posted On 2017-01-03