Mutagenetix > Incidental Mutation

Incidental Mutation 'R5589:Gpt2'

437358

Institutional Source

Beutler Lab

Gene Symbol

Gpt2

Ensembl Gene

ENSMUSG00000031700

Gene Name

glutamic pyruvate transaminase (alanine aminotransferase) 2

Synonyms

4631422C05Rik, ALT2

MMRRC Submission

043142-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R5589 (G1)

Quality Score

178

Status

Not validated

Chromosome

Chromosomal Location

86219205-86254189 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86219740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 62 (Y62C)

Ref Sequence

ENSEMBL: ENSMUSP00000115968 (fasta)

Gene Model

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

AlphaFold

Q8BGT5

Predicted Effect

probably damaging
Transcript: ENSMUST00000034136
AA Change: Y62C

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

SMART Domains

Protein: ENSMUSP00000034136
Gene: ENSMUSG00000031700
AA Change: Y62C

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 damaging
Transcript: ENSMUST00000132932
AA Change: Y62C

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

SMART Domains

Protein: ENSMUSP00000115968
Gene: ENSMUSG00000031700
AA Change: Y62C

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: ENSMUST00000143659

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	A	11: 23,468,066 (GRCm39)	M76L	probably benign	Het
Adrm1b	T	A	3: 92,336,112 (GRCm39)		probably benign	Het
Alg1	T	A	16: 5,053,086 (GRCm39)	W116R	probably benign	Het
Ano3	A	T	2: 110,715,340 (GRCm39)	S33T	probably damaging	Het
Atp2b2	T	C	6: 113,751,400 (GRCm39)	E556G	possibly damaging	Het
Brca2	T	A	5: 150,480,597 (GRCm39)	I2761K	possibly damaging	Het
Ccdc68	G	A	18: 70,079,577 (GRCm39)	G141E	probably benign	Het
Cckbr	T	C	7: 105,083,732 (GRCm39)	V220A	probably damaging	Het
Ccnd3	G	A	17: 47,909,544 (GRCm39)	R45Q	probably damaging	Het
Cdh24	G	T	14: 54,874,832 (GRCm39)	T391N	probably damaging	Het
Cldn11	A	G	3: 31,204,395 (GRCm39)	T33A	probably damaging	Het
Clec2e	T	A	6: 129,075,391 (GRCm39)	Y50F	probably benign	Het
Cntnap1	A	G	11: 101,075,944 (GRCm39)	N943D	probably benign	Het
Cspg4b	A	G	13: 113,454,484 (GRCm39)	R177G	possibly damaging	Het
Dmgdh	T	C	13: 93,813,665 (GRCm39)	V70A	probably damaging	Het
Gm14496	C	A	2: 181,637,674 (GRCm39)	Y249*	probably null	Het
Gmnc	T	A	16: 26,781,714 (GRCm39)	H105L	probably damaging	Het
Ift80	T	C	3: 68,838,233 (GRCm39)	R413G	probably damaging	Het
Kctd16	C	A	18: 40,392,061 (GRCm39)	D216E	probably damaging	Het
Kif26b	T	C	1: 178,743,864 (GRCm39)	V873A	probably benign	Het
Klra4	G	T	6: 130,039,117 (GRCm39)	Q92K	probably benign	Het
L1td1	C	A	4: 98,626,341 (GRCm39)	N845K	possibly damaging	Het
Lama3	C	T	18: 12,605,277 (GRCm39)	T1077I	possibly damaging	Het
Loxhd1	T	C	18: 77,429,751 (GRCm39)	I230T	possibly damaging	Het
Lsg1	T	C	16: 30,399,819 (GRCm39)	N160S	probably damaging	Het
Lyzl4	G	A	9: 121,413,469 (GRCm39)	R24C	probably damaging	Het
Mib1	A	G	18: 10,794,488 (GRCm39)	N658S	probably benign	Het
Mmp8	T	C	9: 7,566,275 (GRCm39)	I377T	probably damaging	Het
Mtmr14	T	C	6: 113,238,243 (GRCm39)		probably null	Het
Myo1c	A	G	11: 75,548,414 (GRCm39)	T58A	possibly damaging	Het
Myo9a	C	T	9: 59,802,527 (GRCm39)	Q2005*	probably null	Het
Neu3	G	T	7: 99,472,636 (GRCm39)	P34T	probably benign	Het
Nlrp4b	G	A	7: 10,449,512 (GRCm39)	V205I	probably benign	Het
Or4b1b	C	T	2: 90,112,313 (GRCm39)	G202D	probably damaging	Het
Or4k38	T	C	2: 111,165,850 (GRCm39)	N191S	possibly damaging	Het
Or5h23	A	T	16: 58,906,334 (GRCm39)	S171T	probably benign	Het
Or5t15	A	G	2: 86,681,118 (GRCm39)	I308T	unknown	Het
Or6c66	T	G	10: 129,461,319 (GRCm39)	T204P	probably damaging	Het
Or9m1	T	C	2: 87,733,691 (GRCm39)	T110A	probably benign	Het
Pcsk6	T	C	7: 65,578,933 (GRCm39)		probably null	Het
Pik3c2a	A	G	7: 116,016,893 (GRCm39)	V288A	probably benign	Het
Plcd3	T	C	11: 102,968,629 (GRCm39)	D354G	probably benign	Het
Prkdc	C	A	16: 15,524,655 (GRCm39)	N1219K	probably benign	Het
Prl3d1	T	A	13: 27,278,927 (GRCm39)	Y41N	probably damaging	Het
Qrich2	C	T	11: 116,332,234 (GRCm39)	G2321R	probably damaging	Het
Rrbp1	T	C	2: 143,831,886 (GRCm39)	I94V	probably benign	Het
Serinc1	C	A	10: 57,399,262 (GRCm39)	V214L	probably benign	Het
Serpina9	G	T	12: 103,967,728 (GRCm39)	N222K	probably benign	Het
Smchd1	A	G	17: 71,747,956 (GRCm39)	Y429H	probably damaging	Het
Smyd1	C	T	6: 71,239,164 (GRCm39)	V9M	probably damaging	Het
Sostdc1	C	T	12: 36,367,246 (GRCm39)	Q141*	probably null	Het
Spam1	C	T	6: 24,796,109 (GRCm39)	T20I	probably benign	Het
Tex47	T	C	5: 7,354,834 (GRCm39)	V5A	probably benign	Het
Thbs4	T	C	13: 92,912,582 (GRCm39)		probably null	Het
Trim45	C	T	3: 100,837,257 (GRCm39)	P531L	probably damaging	Het
Tshb	A	T	3: 102,685,478 (GRCm39)	Y50*	probably null	Het
Ttn	T	C	2: 76,599,320 (GRCm39)	I19230V	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uba6	G	A	5: 86,270,288 (GRCm39)	T832I	probably damaging	Het
Unc13d	A	T	11: 115,960,579 (GRCm39)	V497D	probably damaging	Het
Usp13	T	C	3: 32,892,007 (GRCm39)	V62A	probably damaging	Het
Vmn1r215	A	C	13: 23,260,189 (GRCm39)	L76F	probably damaging	Het
Vmn1r215	G	T	13: 23,260,190 (GRCm39)	G77C	probably damaging	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Zbtb40	T	C	4: 136,722,594 (GRCm39)	D828G	probably damaging	Het
Zfp74	A	T	7: 29,633,990 (GRCm39)	C573S	probably 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
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'- TTTCTGGGCCAGGGCTAATC -3'
(R):5'- CTCACTTTGTGCCAGATGCG -3'

Sequencing Primer
(F):5'- TAATCTCGGCAGGTTCGC -3'
(R):5'- CTCTCGCTTTAGCCAAAAATGG -3'

Posted On

2016-10-26