Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00593:Agtr2'

8662

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Agtr2

Ensembl Gene

ENSMUSG00000068122

Gene Name

angiotensin II receptor, type 2

Synonyms

AT2 receptor

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00593

Quality Score

Status

Chromosome

Chromosomal Location

21350863-21355072 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 21352719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 118 (K118*)

Ref Sequence

ENSEMBL: ENSMUSP00000086592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089188]

AlphaFold

P35374

Predicted Effect

probably null
Transcript: ENSMUST00000089188
AA Change: K118*

SMART Domains

Protein: ENSMUSP00000086592
Gene: ENSMUSG00000068122
AA Change: K118*

Domain	Start	End	E-Value	Type
Pfam:7tm_1	61	318	5.3e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131150

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the G-protein coupled receptor 1 family, and functions as a receptor for angiotensin II. It is an intergral membrane protein that is highly expressed in fetus, but scantily in adult tissues, except brain, adrenal medulla, and atretic ovary. This receptor has been shown to mediate programmed cell death and this apoptotic function may play an important role in developmental biology and pathophysiology. Mutations in this gene are been associated with X-linked mental retardation. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele may exhibit abnormal response to angiotensin II, induced pancreatitis, and myocardial infarction; cardiovascular morphology and physiology; renal and urinary morphology and physiology; and glucose and lipid homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap14	A	T	X: 36,414,484 (GRCm39)	H525Q	possibly damaging	Het
Crb1	T	C	1: 139,250,983 (GRCm39)	I323V	probably benign	Het
H60b	T	C	10: 22,162,962 (GRCm39)	I179T	possibly damaging	Het
Krt34	A	G	11: 99,929,520 (GRCm39)		probably benign	Het
Mroh9	T	C	1: 162,873,350 (GRCm39)	N541D	possibly damaging	Het
Plxnb1	A	T	9: 108,942,936 (GRCm39)	I1841F	probably benign	Het
Ppp4r3b	A	G	11: 29,147,205 (GRCm39)	D3G	possibly damaging	Het
Rp1	T	C	1: 4,415,626 (GRCm39)	T1829A	possibly damaging	Het
Ssx2ip	T	C	3: 146,142,307 (GRCm39)	F468L	probably damaging	Het
Togaram1	A	G	12: 65,053,173 (GRCm39)	E1301G	probably damaging	Het
Tpd52l2	A	T	2: 181,141,689 (GRCm39)	D24V	probably damaging	Het
Trmo	A	G	4: 46,382,490 (GRCm39)	V209A	probably benign	Het
Zfp141	A	T	7: 42,124,731 (GRCm39)	C580*	probably null	Het
Zfp422	C	A	6: 116,603,919 (GRCm39)	A27S	probably benign	Het
Zfp786	A	T	6: 47,796,605 (GRCm39)	*778R	probably null	Het

Other mutations in Agtr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Agtr2	APN	X	21,352,524 (GRCm39)	missense	probably benign

Posted On

2012-12-06