Mutagenetix > Incidental Mutation

Incidental Mutation 'R8717:Agtr1a'

669976

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

068570-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8717 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30520424-30566850 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 30565357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 141 (T141P)

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: T141P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070958
Gene: ENSMUSG00000049115
AA Change: T141P

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

probably benign
Transcript: ENSMUST00000223201

Meta Mutation Damage Score

0.8526

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,543,958 (GRCm39)	F528L	probably benign	Het
Aadacl3	T	G	4: 144,182,778 (GRCm39)	D230A	probably damaging	Het
Adgrf3	T	A	5: 30,403,579 (GRCm39)		probably benign	Het
Ankfy1	T	A	11: 72,621,300 (GRCm39)	D195E	probably benign	Het
AY074887	G	A	9: 54,857,786 (GRCm39)	T113I	probably damaging	Het
Cacna1c	G	A	6: 119,034,314 (GRCm39)	A71V		Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cntrl	T	A	2: 35,003,351 (GRCm39)	V78E	probably benign	Het
Cyp2c67	T	A	19: 39,627,155 (GRCm39)	Y225F	probably benign	Het
Cyp2j13	T	A	4: 95,933,777 (GRCm39)	H369L	probably benign	Het
Dagla	T	C	19: 10,225,587 (GRCm39)	E859G	probably benign	Het
Duox1	C	A	2: 122,168,152 (GRCm39)	S1092R	possibly damaging	Het
Elfn2	C	A	15: 78,556,561 (GRCm39)	S662I	probably benign	Het
Epor	A	T	9: 21,870,741 (GRCm39)	C380S	probably benign	Het
Fsd2	T	C	7: 81,190,090 (GRCm39)	E564G	probably benign	Het
Hace1	C	T	10: 45,481,694 (GRCm39)	T117I	unknown	Het
Ift172	A	G	5: 31,412,985 (GRCm39)	M1488T	probably benign	Het
Insyn1	A	G	9: 58,406,623 (GRCm39)	T178A	probably damaging	Het
Kdm3b	A	G	18: 34,952,840 (GRCm39)	E1070G	probably damaging	Het
Lrp6	A	G	6: 134,434,711 (GRCm39)	F1331L	probably benign	Het
Lrrc74a	G	A	12: 86,783,253 (GRCm39)	E33K	probably damaging	Het
Magel2	T	C	7: 62,027,420 (GRCm39)	M108T	unknown	Het
Mief1	T	C	15: 80,132,584 (GRCm39)	S127P	probably benign	Het
Mprip	T	C	11: 59,650,526 (GRCm39)	V1410A	probably benign	Het
Muc1	G	A	3: 89,138,821 (GRCm39)	V477M	possibly damaging	Het
Nat8f3	A	T	6: 85,738,687 (GRCm39)	M25K	possibly damaging	Het
Neb	T	G	2: 52,073,781 (GRCm39)	H5942P	probably damaging	Het
Nf2	A	T	11: 4,766,099 (GRCm39)	Y144N	probably damaging	Het
Nipbl	T	A	15: 8,368,225 (GRCm39)	M1166L	probably benign	Het
Npnt	A	T	3: 132,614,136 (GRCm39)	L206Q	probably damaging	Het
Or10ak13	T	C	4: 118,638,996 (GRCm39)	Y262C	probably damaging	Het
Or4g7	A	G	2: 111,309,992 (GRCm39)	T288A	probably damaging	Het
Or6c65	T	A	10: 129,604,127 (GRCm39)	I254N	probably damaging	Het
Parg	A	G	14: 31,932,492 (GRCm39)	K444R	probably benign	Het
Pcbp4	A	T	9: 106,337,202 (GRCm39)		probably null	Het
Pcdhgb4	A	G	18: 37,853,847 (GRCm39)	S81G	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekho2	T	C	9: 65,464,058 (GRCm39)	N264D	probably benign	Het
Pmpca	T	A	2: 26,281,893 (GRCm39)	M182K	probably damaging	Het
Prdm10	A	G	9: 31,252,695 (GRCm39)	H476R	probably benign	Het
Prxl2a	G	A	14: 40,720,836 (GRCm39)	P126S	possibly damaging	Het
Rab7	T	C	6: 87,989,369 (GRCm39)	S34G	probably damaging	Het
Rbp3	G	A	14: 33,678,395 (GRCm39)	R781H	probably damaging	Het
Rngtt	T	A	4: 33,368,695 (GRCm39)	S409R	probably damaging	Het
Ryr1	C	A	7: 28,751,753 (GRCm39)	R3680L	probably benign	Het
Sbno1	T	C	5: 124,512,618 (GRCm39)	S1384G	possibly damaging	Het
Shmt1	T	C	11: 60,685,763 (GRCm39)	D271G	probably benign	Het
Sin3a	C	T	9: 57,034,510 (GRCm39)	R1228W	probably damaging	Het
Slc25a39	T	C	11: 102,294,620 (GRCm39)	R294G	probably benign	Het
Smcr8	T	A	11: 60,670,254 (GRCm39)	S467R	probably damaging	Het
Spaca7	A	G	8: 12,636,480 (GRCm39)	Y102C	probably damaging	Het
Tacr1	A	G	6: 82,380,706 (GRCm39)	Y39C	probably damaging	Het
Tenm3	G	A	8: 48,752,680 (GRCm39)	S894L	possibly damaging	Het
Tmem115	T	A	9: 107,415,132 (GRCm39)	M307K	possibly damaging	Het
Tnn	A	G	1: 159,943,846 (GRCm39)	V989A	possibly damaging	Het
Trabd2b	T	A	4: 114,460,186 (GRCm39)	N441K	probably damaging	Het
Ttll1	T	C	15: 83,373,709 (GRCm39)	K368R	probably benign	Het
Tubgcp2	C	T	7: 139,576,705 (GRCm39)	V858I	probably benign	Het
Ufsp2	G	T	8: 46,436,614 (GRCm39)	V122L	probably benign	Het
Wdr26	A	G	1: 181,011,913 (GRCm39)	C470R	possibly damaging	Het
Xab2	T	C	8: 3,663,845 (GRCm39)	H358R	probably benign	Het
Xrcc5	A	G	1: 72,422,905 (GRCm39)	I697V	probably benign	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
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
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'- TCTAAATCTCGCCCTGGCTG -3'
(R):5'- GTTCTTGGTTAGGCCCAGTC -3'

Sequencing Primer
(F):5'- TAAATCTCGCCCTGGCTGACTTATG -3'
(R):5'- CTTGGTTAGGCCCAGTCCTATG -3'

Posted On

2021-04-30