Mutagenetix > Incidental Mutation

Incidental Mutation 'R6868:Agxt2'

536044

Institutional Source

Beutler Lab

Gene Symbol

Agxt2

Ensembl Gene

ENSMUSG00000089678

Gene Name

alanine-glyoxylate aminotransferase 2

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R6868 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10358618-10410239 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10373855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 87 (L87P)

Ref Sequence

ENSEMBL: ENSMUSP00000106170 (fasta)

Gene Model

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

AlphaFold

Q3UEG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022858
AA Change: L87P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022858
Gene: ENSMUSG00000089678
AA Change: L87P

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 damaging
Transcript: ENSMUST00000110541
AA Change: L87P

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

SMART Domains

Protein: ENSMUSP00000106170
Gene: ENSMUSG00000089678
AA Change: L87P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110542
AA Change: L87P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106171
Gene: ENSMUSG00000089678
AA Change: L87P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

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 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
A630010A05Rik	A	T	16: 14,436,559 (GRCm39)	N204I	probably damaging	Het
Aasdh	C	T	5: 77,039,527 (GRCm39)	V261M	probably damaging	Het
Adgrg7	A	G	16: 56,593,839 (GRCm39)	F126L	probably benign	Het
Alcam	G	A	16: 52,088,748 (GRCm39)	S554F	probably damaging	Het
Ambra1	T	C	2: 91,747,878 (GRCm39)	S1205P	possibly damaging	Het
Bst2	A	C	8: 71,987,404 (GRCm39)	V150G	unknown	Het
C3	T	C	17: 57,511,029 (GRCm39)	Y1659C	possibly damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Cdk4	T	C	10: 126,900,870 (GRCm39)	V174A	probably benign	Het
Ces2h	T	A	8: 105,745,055 (GRCm39)	N396K	probably benign	Het
Cfap144	C	T	11: 58,683,732 (GRCm39)	D113N	probably damaging	Het
Chd7	T	C	4: 8,811,501 (GRCm39)		probably null	Het
Cnih4	A	G	1: 180,993,762 (GRCm39)	I76V	probably null	Het
Csmd2	G	A	4: 128,336,633 (GRCm39)	V1404I	probably benign	Het
Ctrb1	T	C	8: 112,416,035 (GRCm39)	D53G	probably benign	Het
Cul9	C	A	17: 46,833,109 (GRCm39)	R1323L	possibly damaging	Het
Dchs1	A	G	7: 105,412,710 (GRCm39)	V1230A	possibly damaging	Het
Dgat2	T	C	7: 98,807,513 (GRCm39)	D219G	probably benign	Het
Dgkh	T	C	14: 78,862,293 (GRCm39)	T225A	probably damaging	Het
Dock9	G	T	14: 121,823,676 (GRCm39)	A1412E	probably benign	Het
Dscam	C	T	16: 96,631,140 (GRCm39)	V292M	probably damaging	Het
Fras1	T	A	5: 96,830,237 (GRCm39)	V1509E	probably benign	Het
Fryl	T	C	5: 73,226,146 (GRCm39)	Q1839R	probably damaging	Het
Gcat	A	G	15: 78,919,566 (GRCm39)	D177G	probably damaging	Het
Gss	T	C	2: 155,409,732 (GRCm39)	T235A	possibly damaging	Het
Ints10	T	A	8: 69,250,450 (GRCm39)	M114K	probably damaging	Het
Ints5	T	G	19: 8,874,750 (GRCm39)	L903R	probably damaging	Het
Lipo2	G	T	19: 33,725,862 (GRCm39)	P130Q	possibly damaging	Het
Megf11	G	A	9: 64,587,591 (GRCm39)	C494Y	probably damaging	Het
Milr1	T	C	11: 106,654,747 (GRCm39)	Y162H	probably damaging	Het
Mrc2	T	A	11: 105,219,244 (GRCm39)	I278N	probably damaging	Het
Mst1r	T	A	9: 107,793,132 (GRCm39)		probably null	Het
Myh15	G	A	16: 48,889,766 (GRCm39)	C119Y	probably damaging	Het
Nap1l1	G	A	10: 111,330,669 (GRCm39)	G358D	probably damaging	Het
Nav3	T	C	10: 109,529,027 (GRCm39)	I2178V	possibly damaging	Het
Nkx2-5	T	C	17: 27,060,268 (GRCm39)	E21G	probably damaging	Het
Nos2	C	T	11: 78,848,332 (GRCm39)	R967C	probably benign	Het
Or6c215	T	C	10: 129,638,037 (GRCm39)	D119G	probably damaging	Het
Parp10	T	C	15: 76,127,306 (GRCm39)	R44G	probably damaging	Het
Pced1b	A	G	15: 97,282,222 (GRCm39)	H87R	probably damaging	Het
Ppfia3	T	A	7: 45,003,036 (GRCm39)	L524F	probably damaging	Het
Ppp1r12b	T	C	1: 134,814,176 (GRCm39)	T376A	probably benign	Het
Ppp4r4	T	C	12: 103,557,111 (GRCm39)	L449P	probably damaging	Het
Prkd1	T	C	12: 50,472,320 (GRCm39)	R198G	probably damaging	Het
Pth2r	C	A	1: 65,427,638 (GRCm39)	A437E	probably benign	Het
Ptprh	A	T	7: 4,604,864 (GRCm39)	I60N	probably benign	Het
Pxmp2	C	T	5: 110,433,846 (GRCm39)	R9Q	probably damaging	Het
Scarb2	T	C	5: 92,633,168 (GRCm39)	K55E	probably benign	Het
Slc18b1	T	C	10: 23,680,132 (GRCm39)	V109A	possibly damaging	Het
Slx4ip	T	A	2: 136,842,130 (GRCm39)	D18E	probably damaging	Het
Stk40	A	G	4: 126,017,607 (GRCm39)	R45G	probably damaging	Het
Tbxas1	A	T	6: 39,061,240 (GRCm39)	Q513L	probably damaging	Het
Tcf4	A	T	18: 69,790,721 (GRCm39)		probably null	Het
Tmc6	T	A	11: 117,665,143 (GRCm39)	I377F	probably benign	Het
Tmem131l	T	C	3: 83,868,938 (GRCm39)	I146V	probably damaging	Het
Trac	T	A	14: 54,458,049 (GRCm39)		probably benign	Het
Trpm7	T	C	2: 126,679,334 (GRCm39)	D409G	probably damaging	Het
Usp39	A	T	6: 72,314,734 (GRCm39)	V224E	possibly damaging	Het
Vmn1r184	A	C	7: 25,966,727 (GRCm39)	M158L	probably benign	Het
Vmn2r120	T	A	17: 57,852,218 (GRCm39)	I33L	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
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

PCR Primer
(F):5'- GACAATTAGACCCTGGTTAAACTG -3'
(R):5'- ATGTCAGCACAGCCTGTAAC -3'

Sequencing Primer
(F):5'- TAGACCCTGGTTAAACTGACCTG -3'
(R):5'- GGGTTCTGAGTTACACAAATGATTG -3'

Posted On

2018-10-18