Incidental Mutation 'IGL00926:Agtr2'
ID 29581
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agtr2
Ensembl Gene ENSMUSG00000068122
Gene Name angiotensin II receptor, type 2
Synonyms AT2 receptor
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00926
Quality Score
Status
Chromosome X
Chromosomal Location 21350863-21355072 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21352524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 53 (M53L)
Ref Sequence ENSEMBL: ENSMUSP00000086592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089188]
AlphaFold P35374
Predicted Effect probably benign
Transcript: ENSMUST00000089188
AA Change: M53L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086592
Gene: ENSMUSG00000068122
AA Change: M53L

DomainStartEndE-ValueType
Pfam:7tm_1 61 318 5.3e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131150
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the G-protein coupled receptor 1 family, and functions as a receptor for angiotensin II. It is an intergral membrane protein that is highly expressed in fetus, but scantily in adult tissues, except brain, adrenal medulla, and atretic ovary. This receptor has been shown to mediate programmed cell death and this apoptotic function may play an important role in developmental biology and pathophysiology. Mutations in this gene are been associated with X-linked mental retardation. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele may exhibit abnormal response to angiotensin II, induced pancreatitis, and myocardial infarction; cardiovascular morphology and physiology; renal and urinary morphology and physiology; and glucose and lipid homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob T C 12: 8,065,421 (GRCm39) V4097A probably benign Het
Brip1 T C 11: 86,039,227 (GRCm39) K436E possibly damaging Het
Cadps C A 14: 12,491,795 (GRCm38) R785L probably damaging Het
Cavin2 A G 1: 51,340,036 (GRCm39) K238E probably damaging Het
Ccdc158 G A 5: 92,798,626 (GRCm39) T358I probably damaging Het
Cds1 A G 5: 101,957,767 (GRCm39) I246M probably damaging Het
Cep19 A G 16: 31,925,898 (GRCm39) E102G probably damaging Het
Clec4a1 T A 6: 122,899,014 (GRCm39) C28S possibly damaging Het
Csmd3 T A 15: 47,574,360 (GRCm39) Y2082F possibly damaging Het
Fbn1 T A 2: 125,160,962 (GRCm39) T2193S possibly damaging Het
Gm24124 G T 19: 13,611,421 (GRCm39) probably benign Het
Gpbp1l1 T A 4: 116,444,710 (GRCm39) probably null Het
Helq T C 5: 100,912,948 (GRCm39) probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Itga3 G A 11: 94,956,712 (GRCm39) H122Y probably damaging Het
Mettl18 T A 1: 163,823,795 (GRCm39) S39T possibly damaging Het
Ndst4 A T 3: 125,355,102 (GRCm39) T337S probably benign Het
Neb A G 2: 52,160,329 (GRCm39) probably benign Het
Nrbp1 T C 5: 31,401,141 (GRCm39) S6P probably benign Het
Oprk1 A G 1: 5,669,128 (GRCm39) I191M probably damaging Het
Or2a56 A T 6: 42,933,370 (GRCm39) probably benign Het
Or51k2 A G 7: 103,596,204 (GRCm39) T144A probably benign Het
Or52z13 A G 7: 103,247,369 (GRCm39) N282S possibly damaging Het
Psap T C 10: 60,128,316 (GRCm39) V69A probably damaging Het
Scn7a C T 2: 66,514,475 (GRCm39) E1100K probably benign Het
Tmem145 A G 7: 25,014,155 (GRCm39) N423S possibly damaging Het
Tpd52 A T 3: 9,012,692 (GRCm39) probably null Het
Trmt13 G A 3: 116,383,884 (GRCm39) Q58* probably null Het
Ttn T C 2: 76,589,125 (GRCm39) E21346G probably damaging Het
Other mutations in Agtr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00593:Agtr2 APN X 21,352,719 (GRCm39) nonsense probably null
Posted On 2013-04-17