Mutagenetix > Incidental Mutation

Incidental Mutation 'R7325:Agtr1a'

568837

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

045419-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7325 (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 30565890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 318 (K318N)

Ref Sequence

ENSEMBL: ENSMUSP00000070958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066412] [ENSMUST00000221743] [ENSMUST00000222370] [ENSMUST00000222503] [ENSMUST00000223201]

AlphaFold

P29754

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066412
AA Change: K318N

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070958
Gene: ENSMUSG00000049115
AA Change: K318N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,571,711 (GRCm39)	Q402L	probably benign	Het
Afap1l1	T	C	18: 61,869,917 (GRCm39)	T638A	probably benign	Het
Anks1b	A	G	10: 90,777,294 (GRCm39)	T1095A	probably damaging	Het
Ap3d1	A	T	10: 80,559,637 (GRCm39)	I207N	probably damaging	Het
Arhgef11	T	C	3: 87,620,599 (GRCm39)	L484P	possibly damaging	Het
Astn2	C	T	4: 65,460,906 (GRCm39)	S1076N	probably benign	Het
Baat	C	A	4: 49,490,213 (GRCm39)	L290F	probably benign	Het
Boll	T	C	1: 55,343,757 (GRCm39)	Y222C	probably damaging	Het
Bphl	A	T	13: 34,234,324 (GRCm39)	I147F	possibly damaging	Het
Cadps2	T	G	6: 23,409,934 (GRCm39)	D766A	unknown	Het
Cd300lb	T	A	11: 114,815,858 (GRCm39)	K210M	probably damaging	Het
Cdan1	T	C	2: 120,555,185 (GRCm39)	Q797R	probably benign	Het
Celsr1	T	A	15: 85,917,209 (GRCm39)	S255C	probably damaging	Het
Cfap91	T	A	16: 38,141,963 (GRCm39)		probably null	Het
Cip2a	T	A	16: 48,826,184 (GRCm39)	M417K	probably benign	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Dennd5b	T	A	6: 148,922,068 (GRCm39)	K815N	probably benign	Het
Exd1	A	G	2: 119,350,620 (GRCm39)	V547A	probably benign	Het
Fbxo15	C	T	18: 84,977,243 (GRCm39)	R52C	probably damaging	Het
Fip1l1	A	G	5: 74,697,460 (GRCm39)		probably null	Het
Flg2	T	A	3: 93,110,679 (GRCm39)	N902K	unknown	Het
Fyttd1	T	A	16: 32,704,618 (GRCm39)	N76K	probably benign	Het
Gins1	T	A	2: 150,758,086 (GRCm39)	D57E	probably benign	Het
Gm5565	G	C	5: 146,095,171 (GRCm39)		probably null	Het
Gpsm2	T	C	3: 108,610,244 (GRCm39)	Y72C	probably damaging	Het
Hace1	C	A	10: 45,465,603 (GRCm39)	S53*	probably null	Het
Insig2	A	G	1: 121,234,666 (GRCm39)	V188A	possibly damaging	Het
Ism1	T	C	2: 139,598,963 (GRCm39)	V312A	probably damaging	Het
Jmy	A	T	13: 93,609,251 (GRCm39)	Y353N	probably damaging	Het
Maz	A	C	7: 126,624,725 (GRCm39)	V265G	probably benign	Het
Mtmr14	T	A	6: 113,246,509 (GRCm39)	I426N	probably damaging	Het
Or1e34	C	T	11: 73,779,101 (GRCm39)	M32I	probably benign	Het
Or5b113	A	G	19: 13,342,001 (GRCm39)	E3G	probably benign	Het
Or8k22	A	G	2: 86,163,344 (GRCm39)	S119P	possibly damaging	Het
Pcdhac2	T	A	18: 37,278,413 (GRCm39)	N464K	probably damaging	Het
Pcdhb7	T	A	18: 37,476,440 (GRCm39)	H525Q	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Podn	C	T	4: 107,874,899 (GRCm39)		probably null	Het
Prim1	A	G	10: 127,858,788 (GRCm39)	D232G	probably null	Het
Prrt1	T	A	17: 34,851,161 (GRCm39)	M283K	possibly damaging	Het
Rgs9	A	T	11: 109,167,407 (GRCm39)	I65N	probably damaging	Het
Scgb2b26	C	A	7: 33,643,782 (GRCm39)	V53L	probably benign	Het
Shank2	C	A	7: 143,965,422 (GRCm39)	P1010Q	probably benign	Het
Slc12a4	C	T	8: 106,682,347 (GRCm39)	G121S	probably damaging	Het
Slc17a6	G	T	7: 51,294,766 (GRCm39)	A158S	probably damaging	Het
Slc9a9	C	T	9: 94,594,951 (GRCm39)	H154Y	probably benign	Het
Slco1a8	T	C	6: 141,934,951 (GRCm39)	K379E	probably damaging	Het
Slco2a1	T	A	9: 102,962,948 (GRCm39)		probably null	Het
Snapc3	T	C	4: 83,353,507 (GRCm39)	I182T	probably benign	Het
Taok2	A	G	7: 126,470,260 (GRCm39)	V856A	probably benign	Het
Tep1	T	A	14: 51,103,495 (GRCm39)	N265I	probably damaging	Het
Tespa1	A	T	10: 130,197,910 (GRCm39)	N311Y	probably damaging	Het
Tpmt	G	A	13: 47,194,960 (GRCm39)	Q14*	probably null	Het
Trim33	T	C	3: 103,228,952 (GRCm39)	F353L	possibly damaging	Het
Upp1	T	C	11: 9,084,743 (GRCm39)	V154A	probably damaging	Het
Usp34	T	C	11: 23,369,052 (GRCm39)	I1747T		Het
Vmn1r47	T	C	6: 89,999,254 (GRCm39)	S129P	probably benign	Het
Vmn2r93	A	G	17: 18,524,249 (GRCm39)	Y81C	probably benign	Het
Ybx2	A	T	11: 69,831,181 (GRCm39)	T259S	probably benign	Het
Zfp536	T	C	7: 37,179,285 (GRCm39)	T1107A	probably benign	Het
Zfp583	C	T	7: 6,319,585 (GRCm39)	A476T	probably 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
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
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'- ACATTCCTGGATGTGCTGATTC -3'
(R):5'- TCTGCTTAGATCCTGAGGGG -3'

Sequencing Primer
(F):5'- ATTCAGCTGGGCGTCATC -3'
(R):5'- CGTGAGCCATTTAGTCCGATGC -3'

Posted On

2019-09-13