Incidental Mutation 'R0591:Agt'
ID 55981
Institutional Source Beutler Lab
Gene Symbol Agt
Ensembl Gene ENSMUSG00000031980
Gene Name angiotensinogen
Synonyms angiotensin precursor, Aogen, Serpina8
MMRRC Submission 038781-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R0591 (G1)
Quality Score 152
Status Validated
Chromosome 8
Chromosomal Location 125283326-125296445 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125283678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 480 (S480R)
Ref Sequence ENSEMBL: ENSMUSP00000066488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034460] [ENSMUST00000063278]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034460
SMART Domains Protein: ENSMUSP00000034460
Gene: ENSMUSG00000031979

DomainStartEndE-ValueType
Pfam:COG2 15 147 1.4e-44 PFAM
low complexity region 207 220 N/A INTRINSIC
low complexity region 490 502 N/A INTRINSIC
Pfam:DUF3510 565 692 6.1e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000063278
AA Change: S480R

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000066488
Gene: ENSMUSG00000031980
AA Change: S480R

DomainStartEndE-ValueType
SERPIN 111 478 6.63e-57 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.2%
  • 10x: 97.7%
  • 20x: 95.3%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutation of this gene results in small body size and lower body fat, decreased blood pressure and hypotension, kidney abnormalities, polydipsia and polyuria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,774,704 (GRCm39) E1298* probably null Het
Aadacl2fm2 C A 3: 59,659,550 (GRCm39) Y334* probably null Het
Adam19 T C 11: 46,012,238 (GRCm39) probably benign Het
Anapc1 G T 2: 128,461,252 (GRCm39) D1769E probably benign Het
Aox4 T C 1: 58,278,261 (GRCm39) probably benign Het
Apol9b G A 15: 77,619,830 (GRCm39) V209I possibly damaging Het
Appl2 A T 10: 83,460,509 (GRCm39) I116K possibly damaging Het
BC051665 A G 13: 60,932,422 (GRCm39) probably benign Het
Cactin G T 10: 81,159,837 (GRCm39) E89* probably null Het
Carf G T 1: 60,165,073 (GRCm39) probably benign Het
Ccdc167 A G 17: 29,924,235 (GRCm39) probably benign Het
Ceacam3 G A 7: 16,885,808 (GRCm39) probably null Het
Clca4b T A 3: 144,621,353 (GRCm39) K574* probably null Het
Crabp1 T A 9: 54,672,887 (GRCm39) I64N probably damaging Het
Dgkd T A 1: 87,842,826 (GRCm39) I118N probably damaging Het
Dglucy T C 12: 100,825,777 (GRCm39) probably benign Het
Dock10 C T 1: 80,518,936 (GRCm39) probably benign Het
Ednrb A T 14: 104,060,710 (GRCm39) probably null Het
Ercc6 T C 14: 32,279,973 (GRCm39) probably benign Het
Golga3 A C 5: 110,336,609 (GRCm39) Q416P probably damaging Het
Gpr12 A G 5: 146,520,445 (GRCm39) V159A probably benign Het
Heatr5a A T 12: 51,956,884 (GRCm39) probably benign Het
Helz2 A G 2: 180,873,909 (GRCm39) I2195T probably damaging Het
Hikeshi A T 7: 89,569,295 (GRCm39) N76K possibly damaging Het
Hsd11b1 T C 1: 192,911,984 (GRCm39) probably benign Het
Iftap A T 2: 101,406,462 (GRCm39) D155E probably benign Het
Inhba A T 13: 16,201,405 (GRCm39) K322N probably damaging Het
Katnal1 A T 5: 148,829,326 (GRCm39) F291L probably damaging Het
Kcnj9 T C 1: 172,150,665 (GRCm39) E316G probably damaging Het
Lrsam1 A G 2: 32,823,935 (GRCm39) probably benign Het
Mcf2l T G 8: 13,068,751 (GRCm39) S1075A probably benign Het
Mios T C 6: 8,215,470 (GRCm39) V222A possibly damaging Het
Mycbp2 A T 14: 103,433,827 (GRCm39) probably benign Het
Nars1 A T 18: 64,633,638 (GRCm39) I544N probably damaging Het
Or5ak23 A G 2: 85,245,034 (GRCm39) L63P possibly damaging Het
Pbrm1 A G 14: 30,768,387 (GRCm39) probably benign Het
Plcb4 A G 2: 135,796,932 (GRCm39) probably benign Het
Pnliprp1 A G 19: 58,723,138 (GRCm39) D213G probably damaging Het
Psap A G 10: 60,136,634 (GRCm39) N538D possibly damaging Het
Ptdss1 A G 13: 67,120,714 (GRCm39) probably benign Het
Rap1b G A 10: 117,654,522 (GRCm39) probably benign Het
Rhcg T A 7: 79,244,520 (GRCm39) probably benign Het
Ryr1 G A 7: 28,804,220 (GRCm39) T550I possibly damaging Het
Samm50 G A 15: 84,095,369 (GRCm39) G452R probably benign Het
Scin A G 12: 40,130,929 (GRCm39) probably null Het
Sesn3 T C 9: 14,219,854 (GRCm39) L81S probably damaging Het
Skint6 A C 4: 112,715,366 (GRCm39) probably benign Het
Slc30a4 A T 2: 122,527,160 (GRCm39) L411H probably damaging Het
Slc44a5 C T 3: 153,939,782 (GRCm39) probably benign Het
Slc4a3 C T 1: 75,525,665 (GRCm39) A255V probably damaging Het
Slc9b1 A G 3: 135,088,593 (GRCm39) N318S possibly damaging Het
Tcp11l2 A T 10: 84,440,458 (GRCm39) H287L probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tnks2 T A 19: 36,849,962 (GRCm39) Y605N probably damaging Het
Topbp1 T A 9: 103,227,037 (GRCm39) N1490K probably benign Het
Ube4b T G 4: 149,442,034 (GRCm39) probably benign Het
Usp4 G A 9: 108,225,228 (GRCm39) probably benign Het
Vezf1 A T 11: 88,068,435 (GRCm38) probably benign Het
Vmn1r184 A T 7: 25,966,500 (GRCm39) D82V probably damaging Het
Other mutations in Agt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Agt APN 8 125,284,634 (GRCm39) splice site probably benign
IGL01648:Agt APN 8 125,291,145 (GRCm39) missense probably benign 0.01
IGL02145:Agt APN 8 125,291,187 (GRCm39) missense probably damaging 0.99
IGL02929:Agt APN 8 125,283,829 (GRCm39) missense probably benign
IGL02978:Agt APN 8 125,284,502 (GRCm39) missense possibly damaging 0.93
IGL03207:Agt APN 8 125,286,107 (GRCm39) missense probably damaging 0.98
R0518:Agt UTSW 8 125,283,839 (GRCm39) nonsense probably null
R0521:Agt UTSW 8 125,283,839 (GRCm39) nonsense probably null
R0562:Agt UTSW 8 125,286,014 (GRCm39) missense probably benign 0.00
R0646:Agt UTSW 8 125,283,852 (GRCm39) missense probably damaging 1.00
R1495:Agt UTSW 8 125,286,194 (GRCm39) missense probably damaging 1.00
R2568:Agt UTSW 8 125,283,694 (GRCm39) missense probably damaging 1.00
R4750:Agt UTSW 8 125,283,676 (GRCm39) missense probably benign
R4941:Agt UTSW 8 125,283,727 (GRCm39) missense probably benign 0.32
R5782:Agt UTSW 8 125,283,870 (GRCm39) splice site probably null
R5916:Agt UTSW 8 125,290,597 (GRCm39) missense possibly damaging 0.70
R6332:Agt UTSW 8 125,284,572 (GRCm39) missense possibly damaging 0.92
R7769:Agt UTSW 8 125,291,289 (GRCm39) missense probably benign 0.41
R8354:Agt UTSW 8 125,290,842 (GRCm39) missense probably benign 0.06
R8443:Agt UTSW 8 125,290,537 (GRCm39) missense possibly damaging 0.82
R8454:Agt UTSW 8 125,290,842 (GRCm39) missense probably benign 0.06
R8808:Agt UTSW 8 125,291,028 (GRCm39) missense probably benign 0.01
R8911:Agt UTSW 8 125,291,184 (GRCm39) missense probably benign 0.00
R9012:Agt UTSW 8 125,290,954 (GRCm39) missense probably benign 0.00
R9357:Agt UTSW 8 125,291,065 (GRCm39) missense probably benign
X0067:Agt UTSW 8 125,283,694 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTTCCAGAGTGGCAGTCCTGTG -3'
(R):5'- GCAGGTTCTCAATAGCATCCTCCTC -3'

Sequencing Primer
(F):5'- TGTGCAGAGTGCCAGCTTC -3'
(R):5'- TCCTCGAACTCAAAGCAGGAG -3'
Posted On 2013-07-11