Mutagenetix > Incidental Mutation

Incidental Mutation 'R2568:Agt'

254634

Institutional Source

Beutler Lab

Gene Symbol

Agt

Ensembl Gene

ENSMUSG00000031980

Gene Name

angiotensinogen

Synonyms

angiotensin precursor, Aogen, Serpina8

MMRRC Submission

040427-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R2568 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

125283326-125296445 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 125283694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 475 (V475G)

Ref Sequence

ENSEMBL: ENSMUSP00000066488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034460] [ENSMUST00000063278]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034460

SMART Domains

Protein: ENSMUSP00000034460
Gene: ENSMUSG00000031979

Domain	Start	End	E-Value	Type
Pfam:COG2	15	147	1.4e-44	PFAM
low complexity region	207	220	N/A	INTRINSIC
low complexity region	490	502	N/A	INTRINSIC
Pfam:DUF3510	565	692	6.1e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000063278
AA Change: V475G

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

SMART Domains

Protein: ENSMUSP00000066488
Gene: ENSMUSG00000031980
AA Change: V475G

Domain	Start	End	E-Value	Type
SERPIN	111	478	6.63e-57	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

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, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutation of this gene results in small body size and lower body fat, decreased blood pressure and hypotension, kidney abnormalities, polydipsia and polyuria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730071L15Rik	A	T	11: 6,150,161 (GRCm39)		probably benign	Het
Abca13	A	T	11: 9,283,310 (GRCm39)	N3244I	probably benign	Het
Adgrf5	A	G	17: 43,748,562 (GRCm39)	T219A	probably damaging	Het
Adgrg5	A	T	8: 95,660,649 (GRCm39)	N92I	probably damaging	Het
Akap6	A	G	12: 52,934,061 (GRCm39)	K518E	possibly damaging	Het
Apoh	T	G	11: 108,295,697 (GRCm39)	D133E	probably benign	Het
Axdnd1	T	A	1: 156,220,319 (GRCm39)	M234L	possibly damaging	Het
Cacna1d	A	G	14: 29,804,468 (GRCm39)	I1335T	probably damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cfap206	T	A	4: 34,711,566 (GRCm39)	K444*	probably null	Het
Clasp2	A	G	9: 113,707,832 (GRCm39)	I614M	probably benign	Het
Col6a4	A	T	9: 105,940,275 (GRCm39)	D1218E	possibly damaging	Het
Cplane1	T	C	15: 8,230,753 (GRCm39)	V1010A	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
D130043K22Rik	C	T	13: 25,067,874 (GRCm39)	T870M	probably damaging	Het
Dagla	C	A	19: 10,225,516 (GRCm39)	A883S	probably benign	Het
Dhx30	A	G	9: 109,926,263 (GRCm39)	V87A	probably damaging	Het
Dtx1	C	A	5: 120,848,249 (GRCm39)	V44L	possibly damaging	Het
Ecm2	T	A	13: 49,683,605 (GRCm39)	S528T	possibly damaging	Het
Eeig2	T	A	3: 108,886,164 (GRCm39)	N356I	probably benign	Het
Egfem1	A	T	3: 29,637,080 (GRCm39)	N172I	probably damaging	Het
Fam13a	T	G	6: 58,912,594 (GRCm39)	R686S	probably damaging	Het
Fam243	A	G	16: 92,118,207 (GRCm39)	L27P	probably damaging	Het
Fmo1	T	A	1: 162,663,828 (GRCm39)	I234L	probably benign	Het
Foxj2	C	T	6: 122,805,331 (GRCm39)	R68W	probably damaging	Het
Foxo6	A	T	4: 120,125,961 (GRCm39)	M278K	probably benign	Het
Fsip2	A	G	2: 82,820,775 (GRCm39)	S5503G	probably benign	Het
Gdf5	C	G	2: 155,784,010 (GRCm39)	R100G	probably benign	Het
Il1b	A	T	2: 129,209,242 (GRCm39)	D129E	probably damaging	Het
Klhl29	A	G	12: 5,141,350 (GRCm39)	S545P	probably damaging	Het
Krt87	G	T	15: 101,385,708 (GRCm39)	R296S	possibly damaging	Het
Llgl1	T	G	11: 60,599,638 (GRCm39)	S509R	probably damaging	Het
Lmod1	A	T	1: 135,291,702 (GRCm39)	K186*	probably null	Het
Lrpprc	C	T	17: 85,034,077 (GRCm39)	A973T	probably damaging	Het
Marco	T	C	1: 120,422,514 (GRCm39)	H49R	possibly damaging	Het
Mylk4	T	C	13: 32,906,001 (GRCm39)	N394S	probably null	Het
Myo5a	A	G	9: 75,030,322 (GRCm39)	Y147C	probably damaging	Het
Myo5a	T	C	9: 75,059,179 (GRCm39)	V469A	probably damaging	Het
Myot	A	G	18: 44,470,283 (GRCm39)	T87A	probably benign	Het
Nav2	A	G	7: 49,247,312 (GRCm39)	H2154R	probably damaging	Het
Nek10	A	G	14: 14,999,112 (GRCm38)	E1037G	possibly damaging	Het
Or1j13	T	C	2: 36,369,986 (GRCm39)	D52G	probably damaging	Het
Or52e4	A	G	7: 104,705,878 (GRCm39)	T142A	probably benign	Het
Or5k17	A	G	16: 58,746,286 (GRCm39)	V216A	probably benign	Het
Pitrm1	G	T	13: 6,625,128 (GRCm39)	V869F	probably benign	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,976,940 (GRCm39)		probably benign	Het
Prdx1	T	G	4: 116,550,997 (GRCm39)	I156S	probably benign	Het
Rbks	T	A	5: 31,823,096 (GRCm39)	T107S	probably damaging	Het
Ryr3	G	A	2: 112,506,219 (GRCm39)	R3468W	probably damaging	Het
Scn1a	C	T	2: 66,103,813 (GRCm39)	D1805N	probably damaging	Het
Sirpa	T	C	2: 129,457,568 (GRCm39)	V214A	probably benign	Het
Slc35c1	T	C	2: 92,289,225 (GRCm39)	N94D	probably benign	Het
Sorbs2	A	T	8: 46,248,407 (GRCm39)	K553*	probably null	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Thg1l	A	G	11: 45,842,392 (GRCm39)	V142A	probably benign	Het
Tiparp	T	A	3: 65,460,551 (GRCm39)	Y513*	probably null	Het
Tmc6	A	G	11: 117,663,646 (GRCm39)	V522A	probably benign	Het
Trim39	T	A	17: 36,580,056 (GRCm39)		probably benign	Het
Trrap	G	A	5: 144,780,179 (GRCm39)		probably null	Het
Tulp3	C	T	6: 128,304,601 (GRCm39)	V218I	probably benign	Het
Vmn1r38	T	A	6: 66,753,955 (GRCm39)	I54F	probably benign	Het
Vmn2r23	T	A	6: 123,719,147 (GRCm39)	Y833*	probably null	Het
Zfp810	A	T	9: 22,190,534 (GRCm39)	S125T	probably benign	Het

Other mutations in Agt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Agt	APN	8	125,284,634 (GRCm39)	splice site	probably benign
IGL01648:Agt	APN	8	125,291,145 (GRCm39)	missense	probably benign	0.01
IGL02145:Agt	APN	8	125,291,187 (GRCm39)	missense	probably damaging	0.99
IGL02929:Agt	APN	8	125,283,829 (GRCm39)	missense	probably benign
IGL02978:Agt	APN	8	125,284,502 (GRCm39)	missense	possibly damaging	0.93
IGL03207:Agt	APN	8	125,286,107 (GRCm39)	missense	probably damaging	0.98
R0518:Agt	UTSW	8	125,283,839 (GRCm39)	nonsense	probably null
R0521:Agt	UTSW	8	125,283,839 (GRCm39)	nonsense	probably null
R0562:Agt	UTSW	8	125,286,014 (GRCm39)	missense	probably benign	0.00
R0591:Agt	UTSW	8	125,283,678 (GRCm39)	missense	possibly damaging	0.77
R0646:Agt	UTSW	8	125,283,852 (GRCm39)	missense	probably damaging	1.00
R1495:Agt	UTSW	8	125,286,194 (GRCm39)	missense	probably damaging	1.00
R4750:Agt	UTSW	8	125,283,676 (GRCm39)	missense	probably benign
R4941:Agt	UTSW	8	125,283,727 (GRCm39)	missense	probably benign	0.32
R5782:Agt	UTSW	8	125,283,870 (GRCm39)	splice site	probably null
R5916:Agt	UTSW	8	125,290,597 (GRCm39)	missense	possibly damaging	0.70
R6332:Agt	UTSW	8	125,284,572 (GRCm39)	missense	possibly damaging	0.92
R7769:Agt	UTSW	8	125,291,289 (GRCm39)	missense	probably benign	0.41
R8354:Agt	UTSW	8	125,290,842 (GRCm39)	missense	probably benign	0.06
R8443:Agt	UTSW	8	125,290,537 (GRCm39)	missense	possibly damaging	0.82
R8454:Agt	UTSW	8	125,290,842 (GRCm39)	missense	probably benign	0.06
R8808:Agt	UTSW	8	125,291,028 (GRCm39)	missense	probably benign	0.01
R8911:Agt	UTSW	8	125,291,184 (GRCm39)	missense	probably benign	0.00
R9012:Agt	UTSW	8	125,290,954 (GRCm39)	missense	probably benign	0.00
R9357:Agt	UTSW	8	125,291,065 (GRCm39)	missense	probably benign
X0067:Agt	UTSW	8	125,283,694 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTTCCAGAGTGGCAGTCC -3'
(R):5'- TGCAGGTTCTCAATAGCATCCTC -3'

Sequencing Primer
(F):5'- TGCAGAGTGCCAGCTTCTG -3'
(R):5'- TCCTCGAACTCAAAGCAGGAGAG -3'

Posted On

2014-12-04