Mutagenetix > Incidental Mutation

Incidental Mutation 'R7486:Gpt2'

580172

Institutional Source

Beutler Lab

Gene Symbol

Gpt2

Ensembl Gene

ENSMUSG00000031700

Gene Name

glutamic pyruvate transaminase (alanine aminotransferase) 2

Synonyms

4631422C05Rik, ALT2

MMRRC Submission

045560-MU

Accession Numbers

Essential gene?

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

Stock #

R7486 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86219205-86254189 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86252235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 517 (F517L)

Ref Sequence

ENSEMBL: ENSMUSP00000034136 (fasta)

Gene Model

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

AlphaFold

Q8BGT5

Predicted Effect

probably damaging
Transcript: ENSMUST00000034136
AA Change: F517L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034136
Gene: ENSMUSG00000031700
AA Change: F517L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	T	C	12: 81,605,657 (GRCm39)	I702V	probably benign	Het
Adgre5	T	C	8: 84,450,515 (GRCm39)	E815G	probably damaging	Het
Adgrl2	A	G	3: 148,523,330 (GRCm39)	V298A		Het
Akp3	A	G	1: 87,053,201 (GRCm39)	D91G	probably damaging	Het
Ano8	A	G	8: 71,937,642 (GRCm39)		probably null	Het
Blvra	T	C	2: 126,929,243 (GRCm39)	S136P	unknown	Het
Cacul1	T	A	19: 60,568,868 (GRCm39)	M97L	probably benign	Het
Ccdc80	T	C	16: 44,946,542 (GRCm39)	V827A	probably damaging	Het
Cep68	T	C	11: 20,192,166 (GRCm39)	E11G	probably benign	Het
Cfap221	A	T	1: 119,851,322 (GRCm39)	V813E	possibly damaging	Het
Chd6	A	G	2: 160,791,923 (GRCm39)	V2478A	probably damaging	Het
Chmp6	T	C	11: 119,807,783 (GRCm39)	F148S	probably benign	Het
Clca3a2	T	A	3: 144,503,362 (GRCm39)	I863F	probably damaging	Het
Cnnm2	T	C	19: 46,750,513 (GRCm39)	V101A	possibly damaging	Het
Cpne8	A	T	15: 90,400,109 (GRCm39)		probably null	Het
Dmbt1	T	G	7: 130,668,192 (GRCm39)	C483G	unknown	Het
Dnah7b	G	A	1: 46,329,894 (GRCm39)	G3246D	probably damaging	Het
Dnajc3	C	A	14: 119,209,816 (GRCm39)	T297K	probably benign	Het
Dpm3	A	G	3: 89,174,034 (GRCm39)		probably null	Het
Eef2k	A	G	7: 120,457,793 (GRCm39)	N51D	probably benign	Het
Erc1	G	A	6: 119,571,907 (GRCm39)	Q1022*	probably null	Het
Ercc5	T	A	1: 44,187,224 (GRCm39)	M1K	probably null	Het
Fam114a2	C	T	11: 57,404,515 (GRCm39)	G83D	probably damaging	Het
Fat4	C	A	3: 39,011,576 (GRCm39)	Y2225*	probably null	Het
Frk	G	A	10: 34,423,292 (GRCm39)	W123*	probably null	Het
Gm11568	T	A	11: 99,749,292 (GRCm39)	C166S	unknown	Het
Gpr153	A	G	4: 152,366,858 (GRCm39)	D337G	probably benign	Het
Gsg1	C	T	6: 135,214,427 (GRCm39)	E361K	probably benign	Het
Hsfy2	G	A	1: 56,676,130 (GRCm39)	R136*	probably null	Het
Insm1	G	A	2: 146,065,738 (GRCm39)	R518H	probably damaging	Het
Kank1	G	A	19: 25,388,193 (GRCm39)	C622Y	probably damaging	Het
Katnb1	T	A	8: 95,825,357 (GRCm39)	S640R	probably damaging	Het
Kcnmb4	A	G	10: 116,254,180 (GRCm39)	V199A	probably benign	Het
Lamb1	T	G	12: 31,337,441 (GRCm39)	S391A	probably benign	Het
Larp7-ps	A	T	4: 92,079,506 (GRCm39)	V105E	probably benign	Het
Macf1	T	G	4: 123,303,374 (GRCm39)	D376A	probably benign	Het
Map7d1	C	A	4: 126,128,179 (GRCm39)	R614L	unknown	Het
Mcm8	C	T	2: 132,681,440 (GRCm39)	R667W	probably damaging	Het
Med13l	C	T	5: 118,866,539 (GRCm39)	T531I	probably benign	Het
Mstn	G	T	1: 53,103,128 (GRCm39)	A155S	probably damaging	Het
Mycbp2	C	T	14: 103,434,690 (GRCm39)	R2251K	probably damaging	Het
Myo19	T	C	11: 84,796,463 (GRCm39)	S692P	probably benign	Het
Nipbl	A	T	15: 8,325,120 (GRCm39)	N2514K	probably benign	Het
Nkd2	T	A	13: 73,995,561 (GRCm39)		probably benign	Het
Nox3	T	A	17: 3,720,219 (GRCm39)	Y322F	probably damaging	Het
Nt5dc1	A	G	10: 34,275,805 (GRCm39)	Y135H	probably benign	Het
Oog3	T	A	4: 143,884,742 (GRCm39)	H398L	probably benign	Het
Or10g9	T	A	9: 39,912,181 (GRCm39)	Y114F	probably benign	Het
Or12j4	C	T	7: 140,045,947 (GRCm39)		probably benign	Het
Or1e29	T	C	11: 73,667,847 (GRCm39)	Y102C	probably damaging	Het
Otogl	A	G	10: 107,657,849 (GRCm39)	L1027P	probably damaging	Het
Pcdh20	T	A	14: 88,706,050 (GRCm39)	I417F	possibly damaging	Het
Pcdha12	T	A	18: 37,154,610 (GRCm39)	V443E	probably damaging	Het
Pcdhga2	A	G	18: 37,803,461 (GRCm39)	D435G	probably benign	Het
Pcnt	G	T	10: 76,254,270 (GRCm39)	T853K	probably benign	Het
Pcnt	T	C	10: 76,254,271 (GRCm39)	T853A	probably benign	Het
Pgghg	T	A	7: 140,522,393 (GRCm39)	S57R	probably benign	Het
Ppm1m	T	C	9: 106,073,810 (GRCm39)	D301G	probably damaging	Het
Ppp6r1	A	G	7: 4,642,899 (GRCm39)	V519A	probably benign	Het
Prss41	ACAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCA	17: 24,063,072 (GRCm39)		probably benign	Het
Rasa3	C	T	8: 13,640,201 (GRCm39)		probably null	Het
Robo4	T	C	9: 37,316,870 (GRCm39)	V395A	probably damaging	Het
Scrib	A	G	15: 75,929,499 (GRCm39)	S1123P	probably damaging	Het
Setd1b	A	G	5: 123,301,655 (GRCm39)	K45E	probably benign	Het
Slc14a1	T	C	18: 78,154,739 (GRCm39)	S216G	probably benign	Het
Slc25a45	A	G	19: 5,934,997 (GRCm39)	Y282C	probably damaging	Het
Slc6a5	T	C	7: 49,567,078 (GRCm39)	S255P	possibly damaging	Het
Smc2	A	T	4: 52,462,861 (GRCm39)	Q617L	possibly damaging	Het
Spo11	G	A	2: 172,825,870 (GRCm39)	D103N	probably benign	Het
Tcf20	A	T	15: 82,737,935 (GRCm39)	M1172K	possibly damaging	Het
Tesc	T	A	5: 118,184,382 (GRCm39)	S21T	probably benign	Het
Tie1	C	A	4: 118,337,101 (GRCm39)		probably null	Het
Trim24	T	G	6: 37,934,774 (GRCm39)		probably null	Het
Trpm7	A	G	2: 126,673,115 (GRCm39)		probably null	Het
Unc13d	T	C	11: 115,965,259 (GRCm39)	D193G	possibly damaging	Het
Upk3a	A	T	15: 84,902,225 (GRCm39)		probably null	Het
Vmn2r25	T	C	6: 123,800,101 (GRCm39)	N747S	probably damaging	Het
Wipf1	GCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCC	2: 73,270,418 (GRCm39)		probably benign	Het
Zbtb2	G	A	10: 4,319,025 (GRCm39)	Q334*	probably null	Het
Zfp653	T	C	9: 21,967,824 (GRCm39)	N494D	probably damaging	Het
Zfp865	A	G	7: 5,034,259 (GRCm39)	D748G	possibly damaging	Het
Zzef1	T	C	11: 72,755,612 (GRCm39)	S1014P	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
R1982:Gpt2	UTSW	8	86,242,832 (GRCm39)	missense	possibly damaging	0.75
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
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'- CATTTTGGTGACTCAGAATCTGG -3'
(R):5'- ACTGTTTGCTCGAAGAACTCTC -3'

Sequencing Primer
(F):5'- CGGGTCTGACTGTAGTAGAAATGCC -3'
(R):5'- GTTTGCTCGAAGAACTCTCAAACATC -3'

Posted On

2019-10-07