Mutagenetix > Incidental Mutation

Incidental Mutation 'R0622:Agtr1a'

58746

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

038811-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0622 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30520424-30566850 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30565664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 243 (M243K)

Ref Sequence

ENSEMBL: ENSMUSP00000070958 (fasta)

Gene Model

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

AlphaFold

P29754

Predicted Effect

probably benign
Transcript: ENSMUST00000066412
AA Change: M243K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000070958
Gene: ENSMUSG00000049115
AA Change: M243K

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1b1	A	G	11: 4,987,707 (GRCm39)	M744V	probably damaging	Het
Ccdc152	T	C	15: 3,327,660 (GRCm39)	N39S	probably damaging	Het
Cd163	G	A	6: 124,294,311 (GRCm39)	V490M	probably damaging	Het
Col6a5	G	T	9: 105,803,051 (GRCm39)	H1305N	unknown	Het
Cpb1	C	A	3: 20,303,982 (GRCm39)	D361Y	probably damaging	Het
Dchs1	T	A	7: 105,412,656 (GRCm39)	Y1248F	probably damaging	Het
Dhdds	G	C	4: 133,721,547 (GRCm39)	F83L	probably damaging	Het
Dsg4	T	A	18: 20,582,845 (GRCm39)	V161E	possibly damaging	Het
Exosc4	A	G	15: 76,211,736 (GRCm39)	D15G	probably damaging	Het
F3	A	T	3: 121,518,668 (GRCm39)	D44V	probably damaging	Het
Fat2	A	T	11: 55,173,954 (GRCm39)	F2253Y	probably damaging	Het
Fbn1	T	C	2: 125,220,944 (GRCm39)	D650G	possibly damaging	Het
Gramd4	T	A	15: 85,975,590 (GRCm39)	F36I	probably damaging	Het
Grm7	G	A	6: 111,335,457 (GRCm39)	A623T	probably damaging	Het
Gys1	A	T	7: 45,089,419 (GRCm39)	T193S	probably damaging	Het
Hectd4	A	G	5: 121,486,688 (GRCm39)	T3228A	possibly damaging	Het
Itpk1	G	T	12: 102,540,239 (GRCm39)	D281E	probably damaging	Het
Kcnh7	A	C	2: 62,667,633 (GRCm39)		probably null	Het
Klhl29	A	G	12: 5,131,224 (GRCm39)	L852P	probably damaging	Het
Lrch1	T	C	14: 75,033,491 (GRCm39)	Y509C	probably benign	Het
Lrp1b	A	G	2: 41,618,563 (GRCm39)		probably null	Het
Mcpt4	C	A	14: 56,298,119 (GRCm39)	R144L	probably benign	Het
Mia2	C	T	12: 59,178,364 (GRCm39)	R12W	probably damaging	Het
Mrps5	A	G	2: 127,436,451 (GRCm39)	K116R	probably benign	Het
Myrf	G	A	19: 10,200,816 (GRCm39)	P286S	probably damaging	Het
Nanp	A	G	2: 150,881,164 (GRCm39)	M28T	probably benign	Het
Neb	T	C	2: 52,102,963 (GRCm39)	I4472V	probably benign	Het
Nfix	A	C	8: 85,453,111 (GRCm39)	N314K	probably damaging	Het
Nlrc3	C	T	16: 3,771,832 (GRCm39)	R849Q	probably benign	Het
Nup210l	G	A	3: 90,075,047 (GRCm39)	V786M	probably damaging	Het
Or2t44	T	C	11: 58,677,167 (GRCm39)	S36P	probably damaging	Het
Or52ad1	A	G	7: 102,996,064 (GRCm39)	S24P	probably damaging	Het
Or6z5	T	C	7: 6,477,598 (GRCm39)	I163T	possibly damaging	Het
Or8c20	A	G	9: 38,260,667 (GRCm39)	N96S	possibly damaging	Het
Pdia4	A	T	6: 47,783,452 (GRCm39)	F197Y	probably damaging	Het
Phldb1	T	C	9: 44,627,149 (GRCm39)	D432G	probably damaging	Het
Pik3ca	A	G	3: 32,490,701 (GRCm39)	E116G	probably damaging	Het
Polq	T	C	16: 36,881,355 (GRCm39)	V1173A	probably benign	Het
Pou2f3	C	T	9: 43,036,414 (GRCm39)	R423H	probably damaging	Het
Pramel29	T	C	4: 143,939,583 (GRCm39)		probably benign	Het
Prkag2	T	C	5: 25,074,247 (GRCm39)	N246S	probably damaging	Het
Proser1	A	G	3: 53,385,281 (GRCm39)	S388G	probably benign	Het
Ralgps1	G	A	2: 33,064,459 (GRCm39)	R238*	probably null	Het
Rfx2	T	C	17: 57,084,071 (GRCm39)	D657G	probably damaging	Het
Ryr3	A	G	2: 112,492,900 (GRCm39)	F3724S	probably damaging	Het
Sh2d5	T	C	4: 137,986,539 (GRCm39)	S421P	probably damaging	Het
Slc34a1	C	A	13: 23,996,594 (GRCm39)	T33K	probably damaging	Het
St8sia5	A	G	18: 77,333,809 (GRCm39)	T156A	probably damaging	Het
Stk32c	T	C	7: 138,768,026 (GRCm39)	D85G	probably benign	Het
Tnks	A	G	8: 35,407,976 (GRCm39)	S251P	probably damaging	Het
Tnxb	T	A	17: 34,937,703 (GRCm39)	L3864Q	probably damaging	Het
Trim9	A	G	12: 70,393,378 (GRCm39)	Y189H	probably damaging	Het
Vmn1r77	T	G	7: 11,775,315 (GRCm39)	F30L	probably benign	Het
Wasf3	A	G	5: 146,403,602 (GRCm39)		probably null	Het
Wdr90	C	T	17: 26,074,632 (GRCm39)	C603Y	probably damaging	Het
Zdhhc25	T	C	15: 88,485,310 (GRCm39)	L215P	probably damaging	Het
Zeb1	C	T	18: 5,759,123 (GRCm39)	Q140*	probably null	Het
Zfp677	C	T	17: 21,617,962 (GRCm39)	L340F	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
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
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'- TCCCCATAGGACTGGGC -3'
(R):5'- TTGCCAGCAAGCTTTGAAC -3'

Posted On

2013-07-11