Incidental Mutation 'R6355:Agtr1a'
ID 512351
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 044507-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6355 (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 30565482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 182 (F182L)
Ref Sequence ENSEMBL: ENSMUSP00000070958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066412] [ENSMUST00000221743] [ENSMUST00000222370] [ENSMUST00000222503] [ENSMUST00000223201]
AlphaFold P29754
Predicted Effect probably benign
Transcript: ENSMUST00000066412
AA Change: F182L

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000070958
Gene: ENSMUSG00000049115
AA Change: F182L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 98% (41/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,986,126 (GRCm39) E2470G probably benign Het
Arhgap20 T C 9: 51,755,020 (GRCm39) W418R probably damaging Het
Arhgap29 A G 3: 121,804,907 (GRCm39) D832G possibly damaging Het
Btbd2 A G 10: 80,481,183 (GRCm39) F325L possibly damaging Het
Chrna10 A T 7: 101,762,292 (GRCm39) probably null Het
Cyp26a1 T C 19: 37,687,377 (GRCm39) I188T possibly damaging Het
Dnajc13 A G 9: 104,080,469 (GRCm39) C871R probably damaging Het
Efcab3 T C 11: 104,896,511 (GRCm39) S4287P probably benign Het
Gm5519 A T 19: 33,802,471 (GRCm39) *171C probably null Het
Gnat1 C A 9: 107,554,623 (GRCm39) V81F probably benign Het
Gorab G A 1: 163,214,138 (GRCm39) A264V probably damaging Het
Ift172 A T 5: 31,441,501 (GRCm39) V211E probably benign Het
Ivl CCTGCTGCTGCTGCT CCTGCTGCTGCT 3: 92,479,217 (GRCm39) probably benign Het
Kif26b A C 1: 178,743,743 (GRCm39) S1280R probably damaging Het
Lce3e C T 3: 92,875,042 (GRCm39) probably benign Het
Magi1 A G 6: 94,260,177 (GRCm39) Y43H probably benign Het
Mon2 T A 10: 122,858,825 (GRCm39) M829L possibly damaging Het
Nmd3 G A 3: 69,636,680 (GRCm39) V96I probably benign Het
Ogfod1 T C 8: 94,789,610 (GRCm39) M437T probably benign Het
Or4f54 A G 2: 111,123,230 (GRCm39) I206V probably benign Het
Or5m9b T A 2: 85,905,216 (GRCm39) I44K probably benign Het
Or6b2 T C 1: 92,407,702 (GRCm39) T214A probably benign Het
Pabpc2 A G 18: 39,907,445 (GRCm39) S237G probably damaging Het
Parp4 T A 14: 56,839,757 (GRCm39) D488E possibly damaging Het
Phldb2 C T 16: 45,645,701 (GRCm39) M293I probably damaging Het
Poc1b G A 10: 98,965,436 (GRCm39) E80K probably damaging Het
Prdm5 C A 6: 65,860,578 (GRCm39) Q421K probably damaging Het
Rad54b A G 4: 11,604,989 (GRCm39) E479G possibly damaging Het
Ralgapa1 A G 12: 55,745,639 (GRCm39) S1239P probably damaging Het
Robo3 A G 9: 37,330,235 (GRCm39) V1052A possibly damaging Het
Satb2 G T 1: 56,987,356 (GRCm39) D83E probably damaging Het
Sccpdh T C 1: 179,498,165 (GRCm39) S70P probably benign Het
Scn3a A G 2: 65,291,643 (GRCm39) F1701S probably damaging Het
Srsf9 A G 5: 115,465,368 (GRCm39) M1V probably null Het
Stk32a T A 18: 43,430,659 (GRCm39) probably null Het
Sult2a5 A C 7: 13,396,462 (GRCm39) Y183S probably benign Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Tnip2 G A 5: 34,656,541 (GRCm39) Q255* probably null Het
Vmn1r26 A G 6: 57,985,536 (GRCm39) W218R probably benign Het
Vmn2r61 A G 7: 41,916,659 (GRCm39) Y424C probably benign Het
Vmn2r86 T A 10: 130,291,763 (GRCm39) M1L probably damaging Het
Wnt3a A T 11: 59,166,058 (GRCm39) I74N probably damaging Het
Zfyve1 A T 12: 83,641,415 (GRCm39) H80Q probably benign 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
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'- TCTCAGCATCGATCGCTACC -3'
(R):5'- TCAGCACATCCAGGAATGTG -3'

Sequencing Primer
(F):5'- GATCGCTACCTGGCCATTG -3'
(R):5'- GCACATCCAGGAATGTGAATATTTGG -3'
Posted On 2018-04-27