Mutagenetix > Incidental Mutation

Incidental Mutation 'R9229:Agxt2'

700123

Institutional Source

Beutler Lab

Gene Symbol

Agxt2

Ensembl Gene

ENSMUSG00000089678

Gene Name

alanine-glyoxylate aminotransferase 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10358618-10410239 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10409597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 499 (V499E)

Ref Sequence

ENSEMBL: ENSMUSP00000106171 (fasta)

Gene Model

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

AlphaFold

Q3UEG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022858
AA Change: V527E

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

SMART Domains

Protein: ENSMUSP00000022858
Gene: ENSMUSG00000089678
AA Change: V527E

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: ENSMUST00000110542
AA Change: V499E

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

SMART Domains

Protein: ENSMUSP00000106171
Gene: ENSMUSG00000089678
AA Change: V499E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (77/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	A	G	12: 70,990,259 (GRCm39)	T104A	probably damaging	Het
Agbl1	G	A	7: 76,774,270 (GRCm39)	V1065I	unknown	Het
Agpat1	G	T	17: 34,830,663 (GRCm39)	V196L	probably null	Het
Amy2a1	T	A	3: 113,325,955 (GRCm39)		probably benign	Het
Ankrd35	A	G	3: 96,592,215 (GRCm39)	T834A	probably benign	Het
Arhgef18	T	A	8: 3,479,314 (GRCm39)	S51T	probably benign	Het
Armc12	A	C	17: 28,751,345 (GRCm39)	D113A	probably benign	Het
Azin1	T	A	15: 38,490,646 (GRCm39)	I436F	probably benign	Het
B3galnt2	T	C	13: 14,166,107 (GRCm39)	V334A	probably damaging	Het
Ccdc68	C	T	18: 70,080,203 (GRCm39)	H183Y	probably benign	Het
Cd180	TA	TAA	13: 102,841,514 (GRCm39)		probably null	Het
Cemip	A	T	7: 83,606,833 (GRCm39)	W795R	probably damaging	Het
Cenpj	C	T	14: 56,802,176 (GRCm39)	E130K	possibly damaging	Het
Ciao1	G	C	2: 127,089,062 (GRCm39)	C52W	probably damaging	Het
Cmya5	A	G	13: 93,232,176 (GRCm39)	S971P	possibly damaging	Het
Cnot2	A	T	10: 116,384,960 (GRCm39)	L9*	probably null	Het
Coro1c	G	T	5: 114,003,747 (GRCm39)	H91N	probably damaging	Het
Crbn	A	T	6: 106,777,017 (GRCm39)	M1K	probably null	Het
Ctsb	T	A	14: 63,373,112 (GRCm39)	W90R	probably damaging	Het
Ctse	A	G	1: 131,595,862 (GRCm39)	I185V	probably damaging	Het
Dennd1b	G	T	1: 138,981,100 (GRCm39)	E105*	probably null	Het
Eif4a3l1	A	G	6: 136,306,141 (GRCm39)	I201V	possibly damaging	Het
Exoc5	G	A	14: 49,251,710 (GRCm39)	Q679*	probably null	Het
Firrm	A	T	1: 163,794,659 (GRCm39)	W512R	probably damaging	Het
Gabrg3	G	A	7: 56,374,268 (GRCm39)	R433C	probably damaging	Het
Gria2	C	A	3: 80,709,689 (GRCm39)	M1I	probably null	Het
H1f6	T	C	13: 23,880,029 (GRCm39)	S61P	probably damaging	Het
Hoxb6	A	T	11: 96,191,645 (GRCm39)	Q189L	probably damaging	Het
Hoxd10	A	G	2: 74,524,600 (GRCm39)	N304S	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Htra4	A	T	8: 25,528,557 (GRCm39)	C112S	probably damaging	Het
Ide	T	C	19: 37,261,598 (GRCm39)	T715A		Het
Ipo13	A	T	4: 117,758,801 (GRCm39)	I688N	probably damaging	Het
Irs2	A	C	8: 11,057,400 (GRCm39)	L344R	probably damaging	Het
Kat6a	A	G	8: 23,429,987 (GRCm39)	T1781A	unknown	Het
Lin7a	G	T	10: 107,247,844 (GRCm39)	V172L	probably damaging	Het
Lpcat1	G	T	13: 73,653,650 (GRCm39)	E282D	probably damaging	Het
Mcf2l	A	G	8: 13,063,584 (GRCm39)	T963A	probably benign	Het
Mfsd14a	G	A	3: 116,439,118 (GRCm39)	A128V	probably benign	Het
Mfsd6	C	G	1: 52,747,903 (GRCm39)	G321R	probably damaging	Het
Mill2	C	T	7: 18,590,475 (GRCm39)	T185I	probably damaging	Het
Mpped1	C	T	15: 83,738,673 (GRCm39)	T270I	possibly damaging	Het
Mrtfb	G	T	16: 13,230,185 (GRCm39)	A957S	possibly damaging	Het
Myh9	T	A	15: 77,675,017 (GRCm39)	Y300F	possibly damaging	Het
Nlrp2	T	A	7: 5,304,052 (GRCm39)	T953S	possibly damaging	Het
Nlrp4e	T	A	7: 23,020,799 (GRCm39)	S429T	probably benign	Het
Nphp3	T	A	9: 103,913,376 (GRCm39)	Y1003N	probably damaging	Het
Nrap	T	C	19: 56,310,339 (GRCm39)	K1588R	probably benign	Het
Odad2	C	A	18: 7,127,324 (GRCm39)	R963L	possibly damaging	Het
Or10ag56	G	A	2: 87,139,165 (GRCm39)	V31I	probably benign	Het
Or5b124	T	A	19: 13,611,414 (GRCm39)	V313D	probably damaging	Het
Pam	A	G	1: 97,753,660 (GRCm39)	V870A	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pierce1	C	A	2: 28,352,390 (GRCm39)	M124I	probably damaging	Het
Plin3	A	T	17: 56,591,315 (GRCm39)	V155E	probably damaging	Het
Pmepa1	T	C	2: 173,117,962 (GRCm39)	T6A	probably benign	Het
Pnpla7	G	A	2: 24,873,503 (GRCm39)	V170I	probably damaging	Het
Pramel34	A	T	5: 93,784,089 (GRCm39)	C458*	probably null	Het
Ptprz1	A	G	6: 22,986,283 (GRCm39)	H361R	probably null	Het
Pvalb	T	A	15: 78,086,767 (GRCm39)	I50F	possibly damaging	Het
Relch	A	T	1: 105,614,709 (GRCm39)	I218F	possibly damaging	Het
Rhag	G	A	17: 41,142,081 (GRCm39)	A175T	probably damaging	Het
Slc24a4	T	C	12: 102,200,983 (GRCm39)	V291A	possibly damaging	Het
Slc9b2	G	A	3: 135,042,295 (GRCm39)	E525K	probably benign	Het
Smg7	A	G	1: 152,720,971 (GRCm39)	F747S	possibly damaging	Het
Sorcs1	T	G	19: 50,141,300 (GRCm39)	I1144L	probably benign	Het
Sox1	A	T	8: 12,447,390 (GRCm39)	I344F	possibly damaging	Het
Speer4e2	A	T	5: 15,027,718 (GRCm39)	S53T	probably benign	Het
Spta1	A	T	1: 174,067,750 (GRCm39)	E2059V	probably damaging	Het
Sva	T	A	6: 42,017,050 (GRCm39)	N52K	possibly damaging	Het
Sva	T	A	6: 42,017,052 (GRCm39)	M53K	probably benign	Het
Thsd7b	A	G	1: 129,849,027 (GRCm39)	Y913C	probably damaging	Het
Tiam1	A	G	16: 89,634,719 (GRCm39)	S864P	possibly damaging	Het
Tma16	A	G	8: 66,936,779 (GRCm39)	V16A	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Treml1	A	G	17: 48,673,774 (GRCm39)	S262G	probably benign	Het
Ttn	A	T	2: 76,597,797 (GRCm39)	D19705E	probably benign	Het
Utp20	A	G	10: 88,594,239 (GRCm39)	L2162P	possibly damaging	Het
Vmn2r60	A	G	7: 41,791,723 (GRCm39)	I549V	possibly damaging	Het
Xpo4	T	C	14: 57,851,156 (GRCm39)	N329S	probably benign	Het
Zfp879	T	A	11: 50,723,886 (GRCm39)	H390L	probably damaging	Het
Zranb1	C	T	7: 132,583,117 (GRCm39)	S512F	probably damaging	Het
Zswim8	A	G	14: 20,766,393 (GRCm39)	H847R	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
R8929:Agxt2	UTSW	15	10,393,830 (GRCm39)	missense	probably benign	0.02
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'- CAGAGCCCAATCTAGTGAGTG -3'
(R):5'- TCCGTTGACAAATACGGTCAGTAG -3'

Sequencing Primer
(F):5'- CCCAATCTAGTGAGTGAAATGTCAGC -3'
(R):5'- CAGTAGATAGATAGTCGGTCATGTC -3'

Posted On

2022-02-07