Incidental Mutation 'IGL01738:Agtr1a'
ID105763
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agtr1a
Ensembl Gene ENSMUSG00000049115
Gene Nameangiotensin II receptor, type 1a
SynonymsAngtr-1a, Agtr1a, Agtr-1a, 1810074K20Rik, AT1, AT1a
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.386) question?
Stock #IGL01738
Quality Score
Status
Chromosome13
Chromosomal Location30336441-30382867 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 30381038 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 29 (V29I)
Ref Sequence ENSEMBL: ENSMUSP00000152634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066412] [ENSMUST00000221743] [ENSMUST00000222370] [ENSMUST00000222503] [ENSMUST00000223201]
Predicted Effect probably benign
Transcript: ENSMUST00000066412
AA Change: V29I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000070958
Gene: ENSMUSG00000049115
AA Change: V29I

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
AA Change: V29I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000222370
AA Change: V29I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000222503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222575
Predicted Effect probably benign
Transcript: ENSMUST00000223201
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A T 8: 105,710,036 D288V probably damaging Het
Akap6 G T 12: 52,886,817 C364F probably damaging Het
Calcrl T G 2: 84,370,449 M84L probably benign Het
Cep128 C A 12: 91,230,842 G402C probably damaging Het
Cfap43 A G 19: 47,797,185 L422P probably damaging Het
Cnbd2 C A 2: 156,375,617 probably benign Het
Col27a1 A G 4: 63,263,779 probably benign Het
Cyp3a44 A G 5: 145,794,935 S134P probably damaging Het
Dync2h1 A C 9: 7,114,922 L179R possibly damaging Het
Ell T A 8: 70,581,681 probably null Het
Gfm1 A G 3: 67,456,661 E490G probably benign Het
Glt1d1 T G 5: 127,632,355 probably benign Het
Gm10267 A T 18: 44,159,275 I10K possibly damaging Het
Htra4 A G 8: 25,025,711 V437A probably damaging Het
Ighv1-69 T C 12: 115,623,441 Q24R possibly damaging Het
Igkv14-111 G A 6: 68,256,459 probably benign Het
Ipcef1 A T 10: 6,890,575 I374N probably damaging Het
Iqgap1 T C 7: 80,723,900 D1447G possibly damaging Het
Mast4 A G 13: 102,737,241 F1681S probably damaging Het
Mmp3 A T 9: 7,446,946 N42I possibly damaging Het
Mybpc1 G T 10: 88,570,645 F126L probably damaging Het
Myo1e A G 9: 70,359,370 K631E probably damaging Het
Olfr902 A C 9: 38,449,646 Y258S probably damaging Het
Pcsk5 T A 19: 17,433,780 probably benign Het
Serpina3b T G 12: 104,130,832 L124R probably damaging Het
Srgap2 T C 1: 131,296,426 I95V probably benign Het
Sstr5 A T 17: 25,491,610 I215N probably damaging Het
Top3b G A 16: 16,880,604 V104M probably benign Het
Tspan8 G A 10: 115,817,665 probably null Het
Vmn2r102 A G 17: 19,677,758 Y345C probably damaging Het
Vmn2r17 G A 5: 109,429,498 G472S probably damaging Het
Zmpste24 A T 4: 121,061,111 L438Q probably damaging Het
Other mutations in Agtr1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01365:Agtr1a APN 13 30381828 missense probably damaging 1.00
IGL01870:Agtr1a APN 13 30381327 missense probably damaging 1.00
IGL02293:Agtr1a APN 13 30381357 missense probably benign
IGL03411:Agtr1a APN 13 30381599 missense possibly damaging 0.49
R0012:Agtr1a UTSW 13 30381749 missense probably damaging 0.99
R0148:Agtr1a UTSW 13 30381944 missense probably benign 0.33
R0584:Agtr1a UTSW 13 30381034 missense probably damaging 1.00
R0622:Agtr1a UTSW 13 30381681 missense probably benign 0.00
R0730:Agtr1a UTSW 13 30381296 missense probably damaging 1.00
R1195:Agtr1a UTSW 13 30381918 missense probably damaging 0.99
R1195:Agtr1a UTSW 13 30381918 missense probably damaging 0.99
R1195:Agtr1a UTSW 13 30381918 missense probably damaging 0.99
R4075:Agtr1a UTSW 13 30381834 missense probably damaging 1.00
R4757:Agtr1a UTSW 13 30381859 nonsense probably null
R5677:Agtr1a UTSW 13 30381584 missense probably damaging 1.00
R5722:Agtr1a UTSW 13 30382033 makesense probably null
R6355:Agtr1a UTSW 13 30381499 missense probably benign 0.04
R6633:Agtr1a UTSW 13 30381467 missense probably benign 0.01
X0025:Agtr1a UTSW 13 30381468 missense probably benign 0.29
Posted On2014-01-21