Mutagenetix > Incidental Mutation

Incidental Mutation 'R7124:Gpt2'

552213

Institutional Source

Beutler Lab

Gene Symbol

Gpt2

Ensembl Gene

ENSMUSG00000031700

Gene Name

glutamic pyruvate transaminase (alanine aminotransferase) 2

Synonyms

4631422C05Rik, ALT2

MMRRC Submission

045212-MU

Accession Numbers

Essential gene?

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

Stock #

R7124 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86219205-86254189 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86244681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 325 (E325K)

Ref Sequence

ENSEMBL: ENSMUSP00000034136 (fasta)

Gene Model

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

AlphaFold

Q8BGT5

Predicted Effect

probably benign
Transcript: ENSMUST00000034136
AA Change: E325K

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000034136
Gene: ENSMUSG00000031700
AA Change: E325K

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

Meta Mutation Damage Score

0.0666

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

97% (72/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	C	3: 124,208,042 (GRCm39)	S212R	probably benign	Het
4930562C15Rik	T	C	16: 4,682,196 (GRCm39)	S170P	probably benign	Het
9330182O14Rik	G	A	15: 40,008,303 (GRCm39)	C59Y	unknown	Het
AA986860	A	G	1: 130,670,624 (GRCm39)	E282G	possibly damaging	Het
Adam1a	G	T	5: 121,657,397 (GRCm39)	T632K	probably benign	Het
Aspg	G	T	12: 112,089,417 (GRCm39)	A402S	probably damaging	Het
Capn7	C	T	14: 31,058,642 (GRCm39)		probably benign	Het
Card9	C	T	2: 26,246,896 (GRCm39)		probably null	Het
Cdh13	T	C	8: 119,694,912 (GRCm39)	V254A	probably damaging	Het
Colec10	T	C	15: 54,325,767 (GRCm39)	V199A	probably damaging	Het
Copb2	T	C	9: 98,459,106 (GRCm39)	S283P	probably damaging	Het
Csmd1	G	T	8: 15,953,202 (GRCm39)	S3426R	probably damaging	Het
Cyp4f14	A	G	17: 33,133,562 (GRCm39)	V98A	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dysf	A	G	6: 84,167,883 (GRCm39)		probably null	Het
Efcab3	T	C	11: 104,629,100 (GRCm39)	F926S	probably benign	Het
Eif4ebp1	T	C	8: 27,763,447 (GRCm39)	V80A	probably damaging	Het
Eloa	T	A	4: 135,736,452 (GRCm39)	I565F	probably damaging	Het
Espn	G	T	4: 152,215,721 (GRCm39)	H513N	probably benign	Het
Fam83c	C	T	2: 155,671,491 (GRCm39)	S648N	probably benign	Het
Fdxr	C	T	11: 115,160,403 (GRCm39)	V351M	probably benign	Het
Fras1	A	T	5: 96,862,260 (GRCm39)	D2213V	probably damaging	Het
Gbp4	T	A	5: 105,267,825 (GRCm39)	I474F	possibly damaging	Het
Golgb1	T	C	16: 36,734,035 (GRCm39)	V1135A	probably benign	Het
Hipk2	A	T	6: 38,795,413 (GRCm39)	Y285*	probably null	Het
Ifi27l2b	T	C	12: 103,417,579 (GRCm39)	I203V	probably damaging	Het
Itga10	T	A	3: 96,559,081 (GRCm39)	M390K	probably damaging	Het
Itgb8	G	T	12: 119,166,159 (GRCm39)	S124*	probably null	Het
Klhdc10	T	A	6: 30,441,826 (GRCm39)	F173I	probably damaging	Het
Kng2	T	G	16: 22,830,805 (GRCm39)	N168T	probably damaging	Het
Krtap24-1	T	C	16: 88,408,434 (GRCm39)	T231A	probably damaging	Het
Lbx2	A	T	6: 83,065,045 (GRCm39)	D194V	probably damaging	Het
Lrrc39	C	A	3: 116,359,562 (GRCm39)	Q36K	probably benign	Het
Madd	T	C	2: 90,992,393 (GRCm39)	E1093G	possibly damaging	Het
Mfap3l	A	G	8: 61,124,303 (GRCm39)	T182A	probably damaging	Het
Myo9b	T	A	8: 71,786,345 (GRCm39)	Y670*	probably null	Het
Nbea	A	G	3: 55,899,865 (GRCm39)	L1428P	probably damaging	Het
Nkx2-3	T	C	19: 43,603,245 (GRCm39)	Y284H	possibly damaging	Het
Nphp4	A	G	4: 152,640,141 (GRCm39)	D1009G	probably benign	Het
Npy2r	G	A	3: 82,448,490 (GRCm39)	A95V	probably damaging	Het
Nuggc	A	G	14: 65,846,251 (GRCm39)	E70G	probably damaging	Het
Or5ap2	T	C	2: 85,680,254 (GRCm39)	S153P	probably benign	Het
Or5m11	T	A	2: 85,781,817 (GRCm39)	S137T	possibly damaging	Het
Palld	A	T	8: 61,969,679 (GRCm39)	V1215D	unknown	Het
Pard6g	T	C	18: 80,160,340 (GRCm39)	I151T	possibly damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Parp4	A	G	14: 56,840,256 (GRCm39)	I554V	probably benign	Het
Pcnx2	G	A	8: 126,480,356 (GRCm39)	P1984S	probably damaging	Het
Piwil4	T	C	9: 14,648,196 (GRCm39)	M128V	probably benign	Het
Polr2a	C	A	11: 69,628,288 (GRCm39)	E1302*	probably null	Het
Psg17	C	A	7: 18,548,421 (GRCm39)	G450V	probably damaging	Het
Psg17	C	G	7: 18,548,422 (GRCm39)	G450R	probably damaging	Het
Rag1	T	C	2: 101,474,128 (GRCm39)	E338G	probably damaging	Het
Rev3l	A	T	10: 39,698,163 (GRCm39)	K887*	probably null	Het
Rragd	T	C	4: 32,996,027 (GRCm39)	F124S	possibly damaging	Het
Scube1	A	T	15: 83,513,712 (GRCm39)		probably null	Het
Sfpq	A	T	4: 126,919,725 (GRCm39)	D490V	possibly damaging	Het
Smc1b	G	T	15: 84,955,798 (GRCm39)	Q1034K	probably damaging	Het
Smg7	T	C	1: 152,753,831 (GRCm39)	N5S	probably benign	Het
Spata31d1a	A	C	13: 59,850,301 (GRCm39)	L609R	probably damaging	Het
Ssh2	A	G	11: 77,345,164 (GRCm39)	K1050E	probably benign	Het
Stab1	G	A	14: 30,882,824 (GRCm39)	T393I	possibly damaging	Het
Sult2a4	C	T	7: 13,722,320 (GRCm39)	W49*	probably null	Het
Thrap3	A	T	4: 126,074,231 (GRCm39)	S172T	unknown	Het
Tmem130	A	G	5: 144,687,721 (GRCm39)	V205A	probably damaging	Het
Ube2d2b	A	G	5: 107,978,717 (GRCm39)	I123V	probably benign	Het
Unc79	G	T	12: 103,027,652 (GRCm39)	L414F	probably damaging	Het
Vmn2r30	C	T	7: 7,337,183 (GRCm39)	S151N	probably benign	Het
Vmn2r54	T	A	7: 12,356,078 (GRCm39)	T443S	probably benign	Het
Zfp229	T	A	17: 21,961,597 (GRCm39)	S51T	probably damaging	Het
Zfp617	T	C	8: 72,686,384 (GRCm39)	L238P	probably damaging	Het
Zfp707	T	A	15: 75,845,398 (GRCm39)	C87*	probably null	Het
Zfp853	T	C	5: 143,275,362 (GRCm39)	K101R	unknown	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
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'- CAAAGCTGGATTTTGTGGCC -3'
(R):5'- CAAGTGATGAAGGCTGCTTTC -3'

Sequencing Primer
(F):5'- TGTGGCCTTCACCTGACAACAG -3'
(R):5'- GAAGGCTGCTTTCTAACCATG -3'

Posted On

2019-05-15