Mutagenetix > Incidental Mutation

Incidental Mutation 'R7582:Gpt2'

586805

Institutional Source

Beutler Lab

Gene Symbol

Gpt2

Ensembl Gene

ENSMUSG00000031700

Gene Name

glutamic pyruvate transaminase (alanine aminotransferase) 2

Synonyms

4631422C05Rik, ALT2

MMRRC Submission

045665-MU

Accession Numbers

Essential gene?

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

Stock #

R7582 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86219205-86254189 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86246145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 368 (K368R)

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: K368R

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

SMART Domains

Protein: ENSMUSP00000034136
Gene: ENSMUSG00000031700
AA Change: K368R

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: 98.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,266,565 (GRCm39)	V1007A	probably damaging	Het
Adgrl3	T	C	5: 81,841,523 (GRCm39)	V800A	probably damaging	Het
Ankfn1	T	A	11: 89,417,445 (GRCm39)	M56L	probably benign	Het
Arfgap3	A	C	15: 83,187,302 (GRCm39)	V72G	possibly damaging	Het
B3galnt2	C	T	13: 14,165,986 (GRCm39)	R294W	probably damaging	Het
Cadm1	G	T	9: 47,708,740 (GRCm39)	D157Y	probably damaging	Het
Castor1	T	C	11: 4,170,457 (GRCm39)	V151A	probably benign	Het
Ccdc81	A	T	7: 89,525,353 (GRCm39)	Y474N	probably damaging	Het
Cdkl4	T	A	17: 80,841,264 (GRCm39)	K297I	probably benign	Het
Cep128	G	A	12: 91,314,340 (GRCm39)	T146M	probably damaging	Het
Cfap161	T	C	7: 83,426,290 (GRCm39)	N236S	possibly damaging	Het
Chil3	A	T	3: 106,071,572 (GRCm39)	W31R	probably damaging	Het
Cmtm2b	C	T	8: 105,049,353 (GRCm39)	S86F	probably damaging	Het
Cntnap5a	G	A	1: 116,374,362 (GRCm39)	G958D	probably damaging	Het
Col6a5	A	G	9: 105,822,625 (GRCm39)	L244P	unknown	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cul9	A	G	17: 46,821,905 (GRCm39)	Y1857H	probably damaging	Het
Dst	A	G	1: 34,208,964 (GRCm39)	Q1154R	probably damaging	Het
Fgg	G	A	3: 82,921,445 (GRCm39)	G376D	probably damaging	Het
Fmn2	T	C	1: 174,526,356 (GRCm39)	S1392P	probably damaging	Het
Focad	T	C	4: 88,147,615 (GRCm39)	V418A	probably benign	Het
Foxf1	A	T	8: 121,811,430 (GRCm39)	H98L	possibly damaging	Het
Frmd4a	C	CA	2: 4,599,408 (GRCm39)		probably null	Het
Fry	C	A	5: 150,419,847 (GRCm39)	T639K		Het
Fryl	A	G	5: 73,179,843 (GRCm39)		probably null	Het
Gdpd4	A	G	7: 97,607,012 (GRCm39)		probably null	Het
Hc	A	T	2: 34,881,278 (GRCm39)	V1447E	possibly damaging	Het
Kmt5a	A	G	5: 124,597,982 (GRCm39)	T280A	probably benign	Het
Lrrc4b	G	T	7: 44,111,234 (GRCm39)	V369L	probably benign	Het
Ly6g5c	A	G	17: 35,330,783 (GRCm39)	M102V	probably benign	Het
Malrd1	A	G	2: 15,700,081 (GRCm39)	S643G	unknown	Het
Mib2	T	C	4: 155,739,267 (GRCm39)	N904S	probably benign	Het
Mug2	G	A	6: 122,056,603 (GRCm39)	V1183I	probably damaging	Het
Nckap1l	C	T	15: 103,390,587 (GRCm39)	T786I	probably damaging	Het
Neb	T	C	2: 52,224,504 (GRCm39)		probably benign	Het
Neu3	A	G	7: 99,463,174 (GRCm39)	V183A	probably benign	Het
Nod1	A	G	6: 54,921,292 (GRCm39)	L342P	probably damaging	Het
Nop58	T	C	1: 59,740,097 (GRCm39)	V163A	probably damaging	Het
Npr3	C	T	15: 11,895,768 (GRCm39)	G293R	probably null	Het
Obscn	T	A	11: 58,952,253 (GRCm39)	K3939*	probably null	Het
Or4d10c	G	A	19: 12,065,370 (GRCm39)	A262V	probably benign	Het
Or4g16	T	A	2: 111,136,793 (GRCm39)	M81K	probably damaging	Het
Or5k16	A	T	16: 58,736,410 (GRCm39)	M198K	possibly damaging	Het
Or5p76	A	G	7: 108,123,058 (GRCm39)	I33T	probably benign	Het
Or8b12b	T	C	9: 37,684,117 (GRCm39)	L54P	probably damaging	Het
P2ry6	A	G	7: 100,587,784 (GRCm39)	Y192H	probably damaging	Het
Paxbp1	A	G	16: 90,819,555 (GRCm39)		probably null	Het
Pign	G	A	1: 105,577,092 (GRCm39)	T197I	probably benign	Het
Pirb	A	T	7: 3,716,817 (GRCm39)		probably null	Het
Pkdrej	C	A	15: 85,703,122 (GRCm39)	R938L	possibly damaging	Het
Psg21	A	G	7: 18,381,128 (GRCm39)	*472R	probably null	Het
Rabgap1l	A	T	1: 160,509,654 (GRCm39)	S474R	probably benign	Het
Rrn3	C	T	16: 13,628,375 (GRCm39)	Q519*	probably null	Het
Seh1l	A	T	18: 67,908,188 (GRCm39)	K37*	probably null	Het
Shprh	A	G	10: 11,040,449 (GRCm39)	S641G	probably benign	Het
Slc4a1	T	G	11: 102,243,403 (GRCm39)	S743R	probably damaging	Het
Snx13	C	T	12: 35,174,534 (GRCm39)	R688*	probably null	Het
Tlr11	C	T	14: 50,599,186 (GRCm39)	Q391*	probably null	Het
Tmbim4	A	G	10: 120,053,471 (GRCm39)	H90R	probably benign	Het
Trav8d-1	T	C	14: 53,016,326 (GRCm39)	S71P	possibly damaging	Het
Trbv5	G	A	6: 41,039,617 (GRCm39)	R74Q	probably benign	Het
Tril	A	G	6: 53,795,921 (GRCm39)	S434P	probably benign	Het
Uhmk1	A	G	1: 170,027,570 (GRCm39)	Y376H	probably damaging	Het
Uty	A	G	Y: 1,170,914 (GRCm39)	C317R	probably damaging	Het
Vmp1	C	T	11: 86,476,225 (GRCm39)	C377Y	probably benign	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdr41	T	C	13: 95,142,275 (GRCm39)	S150P	probably damaging	Het
Zfp617	T	A	8: 72,685,864 (GRCm39)	Y65N	probably benign	Het
Zfp800	A	C	6: 28,244,089 (GRCm39)	V292G	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
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
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'- TCTCCCTGTAAGAGAGTGACTTG -3'
(R):5'- GCTGCTCACTTACCATGACC -3'

Sequencing Primer
(F):5'- TGTTCACCTAACACTGGCCAG -3'
(R):5'- CATGACCCTGGCAATAGCAGTG -3'

Posted On

2019-10-24