Mutagenetix > Incidental Mutation

Incidental Mutation 'R1173:Agxt2'

99742

Institutional Source

Beutler Lab

Gene Symbol

Agxt2

Ensembl Gene

ENSMUSG00000089678

Gene Name

alanine-glyoxylate aminotransferase 2

Synonyms

MMRRC Submission

039246-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10358618-10410239 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10373837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 81 (F81S)

Ref Sequence

ENSEMBL: ENSMUSP00000106171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022858] [ENSMUST00000110540] [ENSMUST00000110541] [ENSMUST00000110542]

AlphaFold

Q3UEG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022858
AA Change: F81S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022858
Gene: ENSMUSG00000089678
AA Change: F81S

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

noncoding transcript
Transcript: ENSMUST00000110540

SMART Domains

Protein: ENSMUSP00000106169
Gene: ENSMUSG00000089678

Domain	Start	End	E-Value	Type
Pfam:Aminotran_3	86	122	2.6e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110541
AA Change: F81S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106170
Gene: ENSMUSG00000089678
AA Change: F81S

Domain	Start	End	E-Value	Type
Pfam:Aminotran_3	86	219	1.7e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110542
AA Change: F81S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106171
Gene: ENSMUSG00000089678
AA Change: F81S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000157020

SMART Domains

Protein: ENSMUSP00000120297
Gene: ENSMUSG00000094814

Domain	Start	End	E-Value	Type
transmembrane domain	20	41	N/A	INTRINSIC

Meta Mutation Damage Score

0.5701

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.9%

Validation Efficiency

99% (72/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,696,589 (GRCm39)		probably benign	Het
Adam30	G	A	3: 98,070,222 (GRCm39)	S685N	probably benign	Het
Adamts12	T	C	15: 11,071,843 (GRCm39)	V129A	probably benign	Het
Ahnak2	A	T	12: 112,749,409 (GRCm39)	I186N	probably damaging	Het
Amz1	A	T	5: 140,737,691 (GRCm39)		probably null	Het
Anapc5	G	A	5: 122,926,481 (GRCm39)	A619V	possibly damaging	Het
Aoc1l3	C	A	6: 48,967,173 (GRCm39)	P707H	probably damaging	Het
Bbox1	T	C	2: 110,095,956 (GRCm39)	D336G	probably damaging	Het
Bivm	A	G	1: 44,165,942 (GRCm39)	T131A	probably benign	Het
Bpi	A	T	2: 158,109,660 (GRCm39)	I203F	probably benign	Het
Cd151	A	C	7: 141,050,569 (GRCm39)	T241P	probably damaging	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Cdh23	G	A	10: 60,148,171 (GRCm39)		probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dclre1b	A	C	3: 103,711,192 (GRCm39)	S240A	probably benign	Het
Ddc	A	C	11: 11,796,634 (GRCm39)		probably null	Het
Dkk1	T	C	19: 30,524,650 (GRCm39)	R252G	probably damaging	Het
Dmrtc2	T	A	7: 24,573,738 (GRCm39)	M191K	possibly damaging	Het
Eml6	A	G	11: 29,699,824 (GRCm39)	S1771P	possibly damaging	Het
Emx1	T	C	6: 85,165,353 (GRCm39)		probably benign	Het
Fah	T	C	7: 84,250,344 (GRCm39)	M1V	probably null	Het
Fmo6	A	T	1: 162,753,710 (GRCm39)	M144K	probably damaging	Het
Frem1	A	G	4: 82,868,589 (GRCm39)	V1445A	probably benign	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gfm2	A	G	13: 97,301,708 (GRCm39)		probably null	Het
Ghrhr	T	A	6: 55,365,254 (GRCm39)	L416*	probably null	Het
Glipr1l2	C	A	10: 111,919,371 (GRCm39)	L31I	possibly damaging	Het
Gm19965	T	A	1: 116,748,550 (GRCm39)		probably benign	Het
Gpr149	A	G	3: 62,511,888 (GRCm39)	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,202,693 (GRCm39)	I131T	probably damaging	Het
Htra4	T	C	8: 25,520,635 (GRCm39)	D342G	possibly damaging	Het
Idh1	G	T	1: 65,200,319 (GRCm39)	N348K	probably benign	Het
Impdh2	T	C	9: 108,439,028 (GRCm39)	F99S	probably benign	Het
Kank4	T	C	4: 98,653,806 (GRCm39)	Y874C	probably damaging	Het
Kazn	A	T	4: 141,886,349 (GRCm39)		probably benign	Het
Kcnq3	T	A	15: 65,871,891 (GRCm39)	T593S	probably benign	Het
Lamc1	T	C	1: 153,122,977 (GRCm39)		probably benign	Het
Magi3	A	G	3: 103,968,946 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,751,617 (GRCm39)	V578A	probably benign	Het
Meox2	T	C	12: 37,159,151 (GRCm39)	C108R	possibly damaging	Het
Nlrp9c	C	A	7: 26,079,860 (GRCm39)	C722F	probably damaging	Het
Or2a5	T	C	6: 42,874,285 (GRCm39)	V300A	probably benign	Het
Pde10a	C	T	17: 9,139,378 (GRCm39)		probably benign	Het
Ppfia4	A	G	1: 134,260,021 (GRCm39)		probably benign	Het
Psg18	T	C	7: 18,088,742 (GRCm39)	M1V	probably null	Het
Qtrt1	A	G	9: 21,323,782 (GRCm39)	T136A	probably benign	Het
Retsat	T	C	6: 72,580,634 (GRCm39)		probably benign	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Sfswap	G	A	5: 129,584,207 (GRCm39)		probably null	Het
Slc16a7	A	T	10: 125,067,241 (GRCm39)	L133I	possibly damaging	Het
Slc30a3	A	T	5: 31,244,154 (GRCm39)	M376K	probably damaging	Het
Spmip4	T	A	6: 50,566,121 (GRCm39)	K118M	probably damaging	Het
Srbd1	C	T	17: 86,405,940 (GRCm39)	C620Y	probably null	Het
Trip10	T	A	17: 57,560,363 (GRCm39)	L100Q	probably damaging	Het
Tyrp1	C	T	4: 80,763,105 (GRCm39)	Q331*	probably null	Het
Vangl2	G	T	1: 171,832,353 (GRCm39)	T501N	probably damaging	Het
Vdr	A	T	15: 97,767,214 (GRCm39)	Y185N	probably benign	Het
Vmn1r123	C	T	7: 20,896,257 (GRCm39)	P50S	probably damaging	Het
Vmn1r158	T	A	7: 22,489,870 (GRCm39)	H113L	probably benign	Het
Vmn2r12	A	T	5: 109,240,720 (GRCm39)	I131N	probably benign	Het
Vmn2r72	T	A	7: 85,401,152 (GRCm39)	E89V	probably damaging	Het
Xrcc6	A	G	15: 81,915,364 (GRCm39)	D94G	probably damaging	Het
Zbtb32	T	A	7: 30,290,692 (GRCm39)	E201V	possibly damaging	Het
Zfp185	A	T	X: 72,042,929 (GRCm39)	E138D	possibly damaging	Het
Zmynd11	T	A	13: 9,739,585 (GRCm39)	H437L	probably damaging	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
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
R8929:Agxt2	UTSW	15	10,393,830 (GRCm39)	missense	probably benign	0.02
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

2014-01-15