Mutagenetix > Incidental Mutation

Incidental Mutation 'R1982:Gpt2'

219952

Institutional Source

Beutler Lab

Gene Symbol

Gpt2

Ensembl Gene

ENSMUSG00000031700

Gene Name

glutamic pyruvate transaminase (alanine aminotransferase) 2

Synonyms

4631422C05Rik, ALT2

MMRRC Submission

039994-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R1982 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86219205-86254189 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86242832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 288 (A288V)

Ref Sequence

ENSEMBL: ENSMUSP00000034136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034136] [ENSMUST00000132932]

AlphaFold

Q8BGT5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034136
AA Change: A288V

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034136
Gene: ENSMUSG00000031700
AA Change: A288V

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
Pfam:Aminotran_1_2	110	510	6.3e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132932

SMART Domains

Protein: ENSMUSP00000115968
Gene: ENSMUSG00000031700

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
PDB:3IHJ\|A	48	148	6e-63	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143846

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypoactivity, reduced postnatal brain growth, various metabolic defects in pathways involving amino acid metabolism, the TCA cycle and neuroprotective mechanisms, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	T	11: 119,904,340 (GRCm39)	P252Q	probably damaging	Het
Adamts4	T	C	1: 171,086,503 (GRCm39)	V765A	probably benign	Het
Agfg2	A	T	5: 137,662,515 (GRCm39)	V184E	possibly damaging	Het
Alas1	A	T	9: 106,115,384 (GRCm39)	I48N	probably damaging	Het
Anks1	T	C	17: 28,204,095 (GRCm39)	V181A	probably damaging	Het
Anxa8	A	T	14: 33,818,527 (GRCm39)	R261S	probably damaging	Het
Aqp4	T	C	18: 15,526,608 (GRCm39)	D291G	probably damaging	Het
Atrn	A	G	2: 130,812,142 (GRCm39)	R696G	probably benign	Het
Barx2	A	C	9: 31,824,308 (GRCm39)	I27S	probably damaging	Het
Btnl1	A	T	17: 34,598,725 (GRCm39)	I114L	possibly damaging	Het
Casq1	C	T	1: 172,043,097 (GRCm39)	A200T	probably damaging	Het
Ccdc33	T	A	9: 58,024,451 (GRCm39)	E225D	probably benign	Het
Cd84	C	A	1: 171,712,152 (GRCm39)		probably null	Het
Ceacam9	T	G	7: 16,459,232 (GRCm39)	L177R	probably benign	Het
Cenpi	T	A	X: 133,218,782 (GRCm39)	F161L	possibly damaging	Het
Cep63	T	C	9: 102,480,079 (GRCm39)	K251E	probably damaging	Het
Cetn3	A	G	13: 81,932,816 (GRCm39)	E25G	probably damaging	Het
Crybg3	T	C	16: 59,364,488 (GRCm39)	D2378G	possibly damaging	Het
Ddx19b	T	C	8: 111,735,975 (GRCm39)	T357A	possibly damaging	Het
Dpep2	A	C	8: 106,716,087 (GRCm39)	Y266*	probably null	Het
Dqx1	G	A	6: 83,035,558 (GRCm39)	D24N	probably damaging	Het
Dsg4	A	T	18: 20,604,269 (GRCm39)	Y912F	probably damaging	Het
Fezf2	G	T	14: 12,344,405 (GRCm38)	P261T	probably benign	Het
Fmo1	T	C	1: 162,667,325 (GRCm39)	I163M	possibly damaging	Het
Garin1a	A	G	6: 29,285,921 (GRCm39)	T69A	probably benign	Het
Gatad2a	G	A	8: 70,365,782 (GRCm39)	R428*	probably null	Het
Gfpt1	T	A	6: 87,031,612 (GRCm39)	F85I	possibly damaging	Het
Gimap7	A	T	6: 48,701,175 (GRCm39)	I254F	possibly damaging	Het
Glcci1	T	C	6: 8,592,980 (GRCm39)	S261P	probably damaging	Het
Glis3	A	T	19: 28,508,674 (GRCm39)	F437I	probably damaging	Het
Glp1r	C	A	17: 31,144,601 (GRCm39)	S258*	probably null	Het
Grin2c	G	T	11: 115,151,731 (GRCm39)	S76R	possibly damaging	Het
Guf1	T	A	5: 69,724,569 (GRCm39)	Y447*	probably null	Het
H2-T9	T	A	17: 36,439,614 (GRCm39)	D122V	probably damaging	Het
Hectd1	A	C	12: 51,832,624 (GRCm39)	L916V	probably damaging	Het
Hnf4g	A	G	3: 3,703,268 (GRCm39)	K96E	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifi207	T	G	1: 173,562,805 (GRCm39)	M114L	probably benign	Het
Ifi35	A	T	11: 101,349,112 (GRCm39)	E252V	probably damaging	Het
Igsf9b	G	A	9: 27,233,535 (GRCm39)	R345H	possibly damaging	Het
Itih3	T	C	14: 30,645,540 (GRCm39)		probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kidins220	A	T	12: 25,101,193 (GRCm39)	M1252L	probably benign	Het
Kifap3	T	A	1: 163,689,591 (GRCm39)	L525*	probably null	Het
Limk2	A	T	11: 3,305,461 (GRCm39)	D35E	probably benign	Het
Lrrc37a	G	A	11: 103,389,792 (GRCm39)	P1878S	probably benign	Het
Mansc4	T	A	6: 146,977,173 (GRCm39)	I148F	probably benign	Het
Mei1	A	G	15: 81,987,513 (GRCm39)	N859S	probably benign	Het
Mib1	A	G	18: 10,812,064 (GRCm39)	D987G	probably damaging	Het
Mroh8	A	G	2: 157,113,895 (GRCm39)	V132A	possibly damaging	Het
Npnt	T	C	3: 132,653,893 (GRCm39)	I29M	probably benign	Het
Nrap	T	C	19: 56,372,537 (GRCm39)	D138G	probably damaging	Het
Or10a3m	A	G	7: 108,312,902 (GRCm39)	Y102C	probably damaging	Het
Or1e16	A	T	11: 73,285,918 (GRCm39)	I310N	probably benign	Het
Or2h1	T	A	17: 37,404,700 (GRCm39)	E22V	probably damaging	Het
Or6z7	T	C	7: 6,483,931 (GRCm39)	M75V	probably benign	Het
Osbpl5	A	C	7: 143,295,408 (GRCm39)		probably null	Het
Pcna-ps2	T	C	19: 9,261,047 (GRCm39)	V102A	possibly damaging	Het
Pik3c2g	T	C	6: 139,599,546 (GRCm39)	S221P	probably damaging	Het
Plppr3	A	G	10: 79,702,259 (GRCm39)	I271T	probably damaging	Het
Ppp4r3c1	A	T	X: 88,975,051 (GRCm39)	V382E	probably damaging	Het
Pramel25	C	A	4: 143,521,720 (GRCm39)	H445Q	probably benign	Het
Prkar1b	C	T	5: 139,113,398 (GRCm39)	A41T	probably benign	Het
Prkcsh	A	G	9: 21,924,164 (GRCm39)	D458G	probably damaging	Het
Prr14	G	T	7: 127,074,662 (GRCm39)	R398L	possibly damaging	Het
Ptafr	A	G	4: 132,307,296 (GRCm39)	R229G	probably damaging	Het
Rbp3	T	C	14: 33,676,502 (GRCm39)	F150S	probably damaging	Het
Rel	C	T	11: 23,692,761 (GRCm39)	G424D	probably benign	Het
Rlf	T	C	4: 121,007,309 (GRCm39)	Y557C	probably damaging	Het
Samt3	A	C	X: 85,090,740 (GRCm39)	M211L	probably benign	Het
Selenop	A	T	15: 3,305,176 (GRCm39)	I111F	probably damaging	Het
Slc2a2	G	A	3: 28,771,590 (GRCm39)	M173I	probably benign	Het
Slc43a1	G	T	2: 84,687,233 (GRCm39)	G361V	possibly damaging	Het
Slit2	G	A	5: 48,407,178 (GRCm39)	V870M	probably damaging	Het
Ssxb10	A	G	X: 8,197,258 (GRCm39)	D77G	probably benign	Het
Stk32b	T	A	5: 37,806,458 (GRCm39)	I29F	probably damaging	Het
Stra6l	T	A	4: 45,867,237 (GRCm39)	C161*	probably null	Het
Tecpr2	T	A	12: 110,921,219 (GRCm39)	M1264K	probably benign	Het
Tfap2c	A	T	2: 172,399,156 (GRCm39)	I468F	probably damaging	Het
Ticam1	C	T	17: 56,578,555 (GRCm39)	R180H	probably damaging	Het
Tlr4	T	A	4: 66,759,272 (GRCm39)	N688K	probably benign	Het
Tmem35b	A	T	4: 127,019,846 (GRCm39)		probably benign	Het
Ugt2b34	T	C	5: 87,054,172 (GRCm39)	E203G	probably damaging	Het
Vegfa	A	C	17: 46,329,786 (GRCm39)	*393G	probably null	Het
Vmn2r16	T	C	5: 109,511,890 (GRCm39)	V699A	probably benign	Het
Zfp324	T	C	7: 12,705,145 (GRCm39)	S445P	probably damaging	Het
Zfp982	T	A	4: 147,597,049 (GRCm39)	C135*	probably null	Het
Zfp990	A	C	4: 145,263,439 (GRCm39)	N146H	probably damaging	Het
Zfyve26	A	G	12: 79,302,017 (GRCm39)	Y431H	possibly damaging	Het

Other mutations in Gpt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Gpt2	APN	8	86,238,953 (GRCm39)	missense	probably benign
IGL01611:Gpt2	APN	8	86,246,167 (GRCm39)	nonsense	probably null
IGL02385:Gpt2	APN	8	86,242,782 (GRCm39)	splice site	probably null
IGL02484:Gpt2	APN	8	86,242,862 (GRCm39)	missense	probably damaging	1.00
IGL02589:Gpt2	APN	8	86,242,795 (GRCm39)	nonsense	probably null
IGL02669:Gpt2	APN	8	86,249,908 (GRCm39)	missense	probably benign	0.02
R1191:Gpt2	UTSW	8	86,235,901 (GRCm39)	missense	probably damaging	1.00
R1599:Gpt2	UTSW	8	86,238,863 (GRCm39)	missense	probably damaging	1.00
R1944:Gpt2	UTSW	8	86,244,625 (GRCm39)	missense	probably damaging	1.00
R1953:Gpt2	UTSW	8	86,248,013 (GRCm39)	missense	probably benign	0.00
R1962:Gpt2	UTSW	8	86,219,764 (GRCm39)	missense	probably damaging	0.99
R2283:Gpt2	UTSW	8	86,242,818 (GRCm39)	missense	probably benign
R3785:Gpt2	UTSW	8	86,252,202 (GRCm39)	missense	probably benign
R3786:Gpt2	UTSW	8	86,252,202 (GRCm39)	missense	probably benign
R3787:Gpt2	UTSW	8	86,252,202 (GRCm39)	missense	probably benign
R4402:Gpt2	UTSW	8	86,252,188 (GRCm39)	missense	probably benign	0.32
R4974:Gpt2	UTSW	8	86,246,068 (GRCm39)	splice site	probably benign
R5457:Gpt2	UTSW	8	86,238,967 (GRCm39)	missense	possibly damaging	0.90
R5589:Gpt2	UTSW	8	86,219,740 (GRCm39)	missense	probably damaging	1.00
R5734:Gpt2	UTSW	8	86,249,885 (GRCm39)	missense	probably benign	0.17
R5924:Gpt2	UTSW	8	86,219,633 (GRCm39)	missense	probably damaging	1.00
R6371:Gpt2	UTSW	8	86,244,681 (GRCm39)	missense	probably benign	0.03
R6651:Gpt2	UTSW	8	86,244,681 (GRCm39)	missense	probably benign	0.03
R6652:Gpt2	UTSW	8	86,244,681 (GRCm39)	missense	probably benign	0.03
R6895:Gpt2	UTSW	8	86,244,681 (GRCm39)	missense	probably benign	0.03
R6898:Gpt2	UTSW	8	86,244,681 (GRCm39)	missense	probably benign	0.03
R6923:Gpt2	UTSW	8	86,244,681 (GRCm39)	missense	probably benign	0.03
R6955:Gpt2	UTSW	8	86,244,681 (GRCm39)	missense	probably benign	0.03
R6956:Gpt2	UTSW	8	86,244,681 (GRCm39)	missense	probably benign	0.03
R7112:Gpt2	UTSW	8	86,244,681 (GRCm39)	missense	probably benign	0.03
R7113:Gpt2	UTSW	8	86,244,681 (GRCm39)	missense	probably benign	0.03
R7115:Gpt2	UTSW	8	86,244,681 (GRCm39)	missense	probably benign	0.03
R7124:Gpt2	UTSW	8	86,244,681 (GRCm39)	missense	probably benign	0.03
R7125:Gpt2	UTSW	8	86,244,681 (GRCm39)	missense	probably benign	0.03
R7327:Gpt2	UTSW	8	86,244,681 (GRCm39)	missense	probably benign	0.03
R7486:Gpt2	UTSW	8	86,252,235 (GRCm39)	missense	probably damaging	0.98
R7582:Gpt2	UTSW	8	86,246,145 (GRCm39)	missense	probably damaging	1.00
R7986:Gpt2	UTSW	8	86,235,839 (GRCm39)	nonsense	probably null
R8274:Gpt2	UTSW	8	86,242,853 (GRCm39)	missense	probably benign	0.38
R8376:Gpt2	UTSW	8	86,219,694 (GRCm39)	missense	probably benign	0.00
X0058:Gpt2	UTSW	8	86,244,648 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- GTAGCCATGACTGGAGCTTG -3'
(R):5'- AATGAACATCCTCACCTTTGCTTG -3'

Sequencing Primer
(F):5'- CTTGCCCAGGAGGTAGGAG -3'
(R):5'- ACCTTTGCTTGCCCAGAATC -3'

Posted On

2014-08-25