Incidental Mutation 'R8310:Agtr1a'
ID 641343
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 067795-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8310 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 30520424-30566850 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 30565745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 270 (V270G)
Ref Sequence ENSEMBL: ENSMUSP00000070958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066412]
AlphaFold P29754
Predicted Effect probably benign
Transcript: ENSMUST00000066412
AA Change: V270G

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000070958
Gene: ENSMUSG00000049115
AA Change: V270G

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 39 316 8.2e-10 PFAM
Pfam:7tm_1 45 302 1.8e-52 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (50/51)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830005F24Rik T G 13: 48,667,727 (GRCm39) W10G unknown Het
Abca13 A T 11: 9,328,269 (GRCm39) K3447N possibly damaging Het
Apob A T 12: 8,059,033 (GRCm39) H2505L probably benign Het
Babam1 T A 8: 71,850,629 (GRCm39) V86D possibly damaging Het
Cacna1s C A 1: 136,015,075 (GRCm39) N654K probably damaging Het
Ccdc146 A T 5: 21,506,469 (GRCm39) probably benign Het
Ccdc8 T C 7: 16,729,326 (GRCm39) S272P probably damaging Het
Cnksr1 T C 4: 133,956,730 (GRCm39) E510G probably damaging Het
Cnot6l A T 5: 96,239,535 (GRCm39) D255E probably benign Het
Ddx1 A C 12: 13,274,280 (GRCm39) probably benign Het
Dyrk1a A G 16: 94,492,650 (GRCm39) T628A probably benign Het
Elavl1 A T 8: 4,351,786 (GRCm39) I110N probably damaging Het
Emilin2 C G 17: 71,562,141 (GRCm39) D954H probably damaging Het
Erich3 C T 3: 154,410,586 (GRCm39) T147I Het
Galnt1 A T 18: 24,404,686 (GRCm39) H341L probably damaging Het
Gm14325 A T 2: 177,473,592 (GRCm39) C497S probably damaging Het
Gm4922 A T 10: 18,659,536 (GRCm39) N395K probably benign Het
Hsd17b2 G A 8: 118,469,155 (GRCm39) C189Y probably damaging Het
Kcnn1 A T 8: 71,305,449 (GRCm39) S254T possibly damaging Het
Lce1l G C 3: 92,757,766 (GRCm39) P31A unknown Het
Lrpprc A G 17: 85,080,524 (GRCm39) Y199H probably damaging Het
Lrrtm3 A T 10: 63,925,487 (GRCm39) probably null Het
Mon2 G T 10: 122,838,688 (GRCm39) A1598E probably damaging Het
Myh3 A T 11: 66,986,833 (GRCm39) probably null Het
Naa11 A T 5: 97,539,737 (GRCm39) D140E probably damaging Het
Nadk2 G A 15: 9,103,420 (GRCm39) R350Q probably benign Het
Npc1 T C 18: 12,326,455 (GRCm39) I1162V probably damaging Het
Or4e1 A G 14: 52,701,280 (GRCm39) M62T probably damaging Het
Or5v1 T C 17: 37,810,148 (GRCm39) I202T probably benign Het
Otogl A T 10: 107,613,461 (GRCm39) N2001K possibly damaging Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Pi4ka A G 16: 17,171,912 (GRCm39) probably null Het
Ppp2r5c A T 12: 110,512,259 (GRCm39) T185S possibly damaging Het
Psd2 A T 18: 36,112,766 (GRCm39) S154C probably damaging Het
Rnasel G A 1: 153,630,734 (GRCm39) V417M possibly damaging Het
Slc35g2 A G 9: 100,434,841 (GRCm39) S277P probably damaging Het
Slc36a2 A T 11: 55,070,158 (GRCm39) W140R possibly damaging Het
Slc6a12 A G 6: 121,340,250 (GRCm39) K512E probably damaging Het
Sox7 C T 14: 64,181,275 (GRCm39) S24L probably benign Het
Specc1 A G 11: 62,023,171 (GRCm39) K659E probably damaging Het
Stx18 T A 5: 38,285,383 (GRCm39) probably null Het
Svs5 C A 2: 164,080,091 (GRCm39) G25W probably damaging Het
Syne1 A G 10: 5,297,829 (GRCm39) M1156T probably benign Het
Tars2 T A 3: 95,658,271 (GRCm39) I185F probably benign Het
Thsd7a T C 6: 12,396,612 (GRCm39) I839V Het
Vmn1r115 T C 7: 20,578,819 (GRCm39) N31S probably damaging Het
Vmn1r57 A G 7: 5,224,024 (GRCm39) D183G probably damaging Het
Wdr7 C T 18: 63,868,756 (GRCm39) T275I probably damaging Het
Ybx2 A G 11: 69,831,194 (GRCm39) E263G probably damaging Het
Zbtb6 G T 2: 37,319,896 (GRCm39) Q11K probably benign Het
Zfp329 A T 7: 12,544,116 (GRCm39) C469* probably null Het
Zfp868 A T 8: 70,066,446 (GRCm39) L40H probably damaging 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
R5722:Agtr1a UTSW 13 30,566,016 (GRCm39) makesense probably null
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
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'- ACCAAGAACATCCTGGGCTTC -3'
(R):5'- TAGACAGGCTTGAGTGCGAC -3'

Sequencing Primer
(F):5'- AAGAACATCCTGGGCTTCCTGTTC -3'
(R):5'- CTTGAGTGCGACTTGGCC -3'
Posted On 2020-07-28