Incidental Mutation 'R1195:Agtr1a'
| ID |
197548 |
| 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 |
039267-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1195 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
30520424-30566850 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 30565901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 322
(P322Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066412]
[ENSMUST00000221743]
[ENSMUST00000222370]
[ENSMUST00000222503]
[ENSMUST00000223201]
|
| AlphaFold |
P29754 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066412
AA Change: P322Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000070958
Gene: ENSMUSG00000049115
AA Change: P322Q
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.3675 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.8%
|
| Validation Efficiency |
100% (39/39) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amh |
AGCGCCTTGG |
AG |
10: 80,641,419 (GRCm39) |
|
probably null |
Het |
| Brd1 |
T |
C |
15: 88,585,014 (GRCm39) |
E940G |
probably benign |
Het |
| Cd163 |
T |
A |
6: 124,302,209 (GRCm39) |
|
probably benign |
Het |
| Cd28 |
C |
T |
1: 60,802,303 (GRCm39) |
T74I |
possibly damaging |
Het |
| Cntnap2 |
T |
A |
6: 46,460,902 (GRCm39) |
M646K |
probably benign |
Het |
| Cyb5d1 |
C |
T |
11: 69,285,797 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dab2ip |
T |
C |
2: 35,608,757 (GRCm39) |
|
probably benign |
Het |
| Dnajc25 |
C |
T |
4: 59,003,415 (GRCm39) |
A62V |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,250,235 (GRCm39) |
D4063G |
probably damaging |
Het |
| Elmod1 |
T |
C |
9: 53,843,052 (GRCm39) |
Y42C |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,096,332 (GRCm39) |
I310V |
probably damaging |
Het |
| Hpx |
A |
G |
7: 105,248,856 (GRCm39) |
|
probably benign |
Het |
| Ighv10-1 |
A |
T |
12: 114,443,015 (GRCm39) |
|
probably benign |
Het |
| Igsf3 |
A |
G |
3: 101,365,419 (GRCm39) |
D1130G |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,465,654 (GRCm39) |
R1343G |
probably damaging |
Het |
| Kdm4d |
A |
G |
9: 14,374,395 (GRCm39) |
S488P |
probably benign |
Het |
| Lingo2 |
A |
G |
4: 35,708,538 (GRCm39) |
Y481H |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Map3k20 |
C |
T |
2: 72,268,562 (GRCm39) |
P523L |
probably damaging |
Het |
| Msx1 |
A |
G |
5: 37,978,625 (GRCm39) |
Y297H |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,802,483 (GRCm39) |
D1990G |
probably damaging |
Het |
| Niban2 |
T |
C |
2: 32,809,815 (GRCm39) |
V304A |
probably benign |
Het |
| Perp |
C |
A |
10: 18,731,483 (GRCm39) |
Y147* |
probably null |
Het |
| Prr16 |
A |
T |
18: 51,435,755 (GRCm39) |
D78V |
probably damaging |
Het |
| Rfx7 |
C |
T |
9: 72,525,228 (GRCm39) |
T806M |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,713,016 (GRCm39) |
|
probably null |
Het |
| Sema5b |
A |
T |
16: 35,472,030 (GRCm39) |
E496V |
probably null |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Spdl1 |
T |
C |
11: 34,710,644 (GRCm39) |
Y368C |
probably damaging |
Het |
| Sptbn2 |
G |
C |
19: 4,795,921 (GRCm39) |
R1700P |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tln2 |
T |
G |
9: 67,165,848 (GRCm39) |
K1000Q |
probably damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,711,943 (GRCm39) |
T63A |
probably benign |
Het |
| Tmed11 |
T |
C |
5: 108,926,885 (GRCm39) |
D129G |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Ttll6 |
T |
C |
11: 96,026,555 (GRCm39) |
I113T |
probably damaging |
Het |
| Uso1 |
T |
A |
5: 92,318,606 (GRCm39) |
F210L |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,131,131 (GRCm39) |
V224E |
probably benign |
Het |
| Zfp639 |
G |
A |
3: 32,573,345 (GRCm39) |
V86I |
possibly damaging |
Het |
|
| Other mutations in Agtr1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- GGAATTCAACGCTCCCCATAGGAC -3'
(R):5'- TCAGGGCATTACATTGCCAGCAAG -3'
Sequencing Primer
(F):5'- AAGAACATCCTGGGCTTCCTG -3'
(R):5'- TTGCCAGCAAGCTTTGAAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation