Mutagenetix > Incidental Mutation

Incidental Mutation 'R8929:Agxt2'

679765

Institutional Source

Beutler Lab

Gene Symbol

Agxt2

Ensembl Gene

ENSMUSG00000089678

Gene Name

alanine-glyoxylate aminotransferase 2

Synonyms

MMRRC Submission

068773-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R8929 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10358618-10410239 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 10393830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 375 (L375I)

Ref Sequence

ENSEMBL: ENSMUSP00000106171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022858] [ENSMUST00000110542]

AlphaFold

Q3UEG6

Predicted Effect

probably benign
Transcript: ENSMUST00000022858
AA Change: L403I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000022858
Gene: ENSMUSG00000089678
AA Change: L403I

Domain	Start	End	E-Value	Type
Pfam:Aminotran_3	76	228	4.5e-36	PFAM
Pfam:Aminotran_3	269	532	5.7e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110542
AA Change: L375I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000106171
Gene: ENSMUSG00000089678
AA Change: L375I

Domain	Start	End	E-Value	Type
Pfam:Aminotran_3	87	443	1.3e-88	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a targeted allele exhibit reduced circulating L-citrulline, hypertension under terminal aesthesia and increased vasodilation maximal response following acetylcholine treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1	A	G	2: 179,814,730 (GRCm39)	K99E	unknown	Het
Akap13	T	C	7: 75,258,752 (GRCm39)	S459P	probably benign	Het
Arfgef3	T	A	10: 18,479,203 (GRCm39)	T1471S	probably damaging	Het
Atxn2l	C	G	7: 126,092,928 (GRCm39)		probably benign	Het
Azi2	C	A	9: 117,879,044 (GRCm39)	T141K	probably damaging	Het
B4galt6	A	G	18: 20,821,422 (GRCm39)	S369P	possibly damaging	Het
BC051019	C	T	7: 109,315,233 (GRCm39)	E341K	probably damaging	Het
Bdh1	G	A	16: 31,275,712 (GRCm39)	D278N	probably benign	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 107,392,870 (GRCm39)		probably benign	Het
Cdipt	T	G	7: 126,578,825 (GRCm39)	D205E	probably damaging	Het
Clec4b1	G	T	6: 123,046,728 (GRCm39)		probably null	Het
Clip4	T	C	17: 72,138,203 (GRCm39)	L467S	probably damaging	Het
Cndp2	A	G	18: 84,693,298 (GRCm39)	I154T	probably benign	Het
Cyp2j5	T	C	4: 96,546,977 (GRCm39)	N179S	possibly damaging	Het
Dpf1	A	T	7: 29,009,174 (GRCm39)	I100F	probably benign	Het
Dppa5a	A	G	9: 78,275,165 (GRCm39)	S46P	probably benign	Het
Epyc	A	G	10: 97,511,607 (GRCm39)	D200G	probably benign	Het
Ern2	C	T	7: 121,769,363 (GRCm39)	A888T	probably benign	Het
Fndc3b	C	T	3: 27,596,253 (GRCm39)	S112N	probably damaging	Het
Fras1	T	C	5: 96,917,366 (GRCm39)	V3462A	probably damaging	Het
Fstl5	T	C	3: 76,615,138 (GRCm39)	I733T	probably damaging	Het
Gdf3	C	T	6: 122,586,756 (GRCm39)	R57Q		Het
Grwd1	A	T	7: 45,480,056 (GRCm39)	D50E	probably damaging	Het
Hgf	G	T	5: 16,798,988 (GRCm39)	D339Y	probably benign	Het
Kat7	T	C	11: 95,196,982 (GRCm39)	D19G	probably damaging	Het
Lefty1	A	G	1: 180,765,290 (GRCm39)	E286G	probably damaging	Het
Lrriq3	T	C	3: 154,893,819 (GRCm39)	F507L	probably damaging	Het
Mcm4	T	A	16: 15,448,289 (GRCm39)	T423S	probably benign	Het
Metap1	T	C	3: 138,174,643 (GRCm39)	K247E	probably benign	Het
Muc4	A	T	16: 32,754,017 (GRCm38)	T1298S	possibly damaging	Het
Muc4	T	G	16: 32,575,285 (GRCm39)	I1290S	probably benign	Het
Nars1	G	T	18: 64,644,895 (GRCm39)	H82Q	probably benign	Het
Ncapg2	A	T	12: 116,415,983 (GRCm39)	E1121V	probably damaging	Het
Nebl	C	A	2: 17,397,991 (GRCm39)	E481*	probably null	Het
Pdap1	T	C	5: 145,069,672 (GRCm39)	E111G	probably damaging	Het
Pds5b	T	C	5: 150,643,379 (GRCm39)	F67S	probably damaging	Het
Pole	T	C	5: 110,445,654 (GRCm39)	F510S	probably damaging	Het
Ptpn21	A	T	12: 98,655,396 (GRCm39)	Y524N	probably damaging	Het
Ptpn4	A	T	1: 119,595,278 (GRCm39)	M887K	probably damaging	Het
Sec24b	T	C	3: 129,803,507 (GRCm39)	D414G	possibly damaging	Het
Sema5b	C	A	16: 35,467,737 (GRCm39)		probably benign	Het
Slain1	A	T	14: 103,923,164 (GRCm39)	T252S	probably damaging	Het
Slc36a3	A	G	11: 55,028,137 (GRCm39)	F164S	probably damaging	Het
Slc39a7	T	C	17: 34,249,964 (GRCm39)	H90R	unknown	Het
Slc44a4	A	T	17: 35,136,508 (GRCm39)	D58V	probably damaging	Het
Slc5a4a	A	G	10: 76,006,617 (GRCm39)	T340A	probably benign	Het
Sod2	C	A	17: 13,233,974 (GRCm39)	N195K	probably damaging	Het
Spart	T	C	3: 55,035,979 (GRCm39)	S572P	possibly damaging	Het
Sytl2	C	T	7: 90,024,810 (GRCm39)	A266V	probably benign	Het
Tbx15	T	A	3: 99,222,219 (GRCm39)	D227E	probably damaging	Het
Tfap2a	A	G	13: 40,882,308 (GRCm39)	V26A	probably benign	Het
Trank1	T	A	9: 111,208,003 (GRCm39)	F1749L	possibly damaging	Het
Trpc6	A	G	9: 8,643,411 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,706,924 (GRCm39)	I9089N	unknown	Het
Tut7	A	G	13: 59,947,942 (GRCm39)	V793A	probably benign	Het
Unc13a	T	C	8: 72,103,835 (GRCm39)	T866A	probably benign	Het
Vmn1r212	T	A	13: 23,067,494 (GRCm39)	S280C	possibly damaging	Het
Vmn2r82	A	G	10: 79,232,541 (GRCm39)	T847A	probably benign	Het
Zer1	A	G	2: 30,000,881 (GRCm39)	L180P	probably damaging	Het
Zfp445	T	G	9: 122,682,732 (GRCm39)	Y403S	probably benign	Het

Other mutations in Agxt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01958:Agxt2	APN	15	10,393,794 (GRCm39)	splice site	probably null
IGL02434:Agxt2	APN	15	10,358,686 (GRCm39)	missense	possibly damaging	0.83
IGL02824:Agxt2	APN	15	10,393,891 (GRCm39)	missense	probably null	0.96
IGL02929:Agxt2	APN	15	10,388,379 (GRCm39)	splice site	probably benign
IGL03368:Agxt2	APN	15	10,388,256 (GRCm39)	nonsense	probably null
PIT4810001:Agxt2	UTSW	15	10,399,151 (GRCm39)	missense	probably benign	0.00
R0179:Agxt2	UTSW	15	10,399,134 (GRCm39)	missense	possibly damaging	0.71
R0526:Agxt2	UTSW	15	10,373,948 (GRCm39)	missense	probably damaging	1.00
R1085:Agxt2	UTSW	15	10,388,338 (GRCm39)	missense	probably benign	0.00
R1173:Agxt2	UTSW	15	10,373,837 (GRCm39)	missense	probably damaging	1.00
R1174:Agxt2	UTSW	15	10,373,837 (GRCm39)	missense	probably damaging	1.00
R1387:Agxt2	UTSW	15	10,380,696 (GRCm39)	missense	probably damaging	1.00
R1642:Agxt2	UTSW	15	10,373,917 (GRCm39)	missense	probably damaging	1.00
R1938:Agxt2	UTSW	15	10,392,021 (GRCm39)	missense	probably damaging	1.00
R3439:Agxt2	UTSW	15	10,381,511 (GRCm39)	missense	probably benign	0.19
R4485:Agxt2	UTSW	15	10,378,968 (GRCm39)	missense	possibly damaging	0.89
R4698:Agxt2	UTSW	15	10,392,130 (GRCm39)	critical splice donor site	probably null
R5582:Agxt2	UTSW	15	10,399,245 (GRCm39)	missense	probably damaging	1.00
R6056:Agxt2	UTSW	15	10,378,963 (GRCm39)	missense	probably damaging	1.00
R6109:Agxt2	UTSW	15	10,377,508 (GRCm39)	missense	probably damaging	1.00
R6393:Agxt2	UTSW	15	10,393,894 (GRCm39)	critical splice donor site	probably null
R6868:Agxt2	UTSW	15	10,373,855 (GRCm39)	missense	probably damaging	1.00
R7206:Agxt2	UTSW	15	10,377,542 (GRCm39)	missense	probably damaging	0.99
R7275:Agxt2	UTSW	15	10,358,753 (GRCm39)	missense	probably benign	0.00
R7475:Agxt2	UTSW	15	10,409,623 (GRCm39)	missense	probably benign
R7792:Agxt2	UTSW	15	10,381,472 (GRCm39)	missense	probably damaging	1.00
R8722:Agxt2	UTSW	15	10,373,825 (GRCm39)	missense	probably benign
R8899:Agxt2	UTSW	15	10,378,900 (GRCm39)	missense	probably damaging	1.00
R9229:Agxt2	UTSW	15	10,409,597 (GRCm39)	missense	probably damaging	1.00
R9311:Agxt2	UTSW	15	10,380,733 (GRCm39)	missense	probably damaging	0.96
R9608:Agxt2	UTSW	15	10,400,624 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

Posted On

2021-08-02