Mutagenetix > Incidental Mutation

Incidental Mutation 'R6956:Gpt2'

541460

Institutional Source

Beutler Lab

Gene Symbol

Gpt2

Ensembl Gene

ENSMUSG00000031700

Gene Name

glutamic pyruvate transaminase (alanine aminotransferase) 2

Synonyms

ALT2, 4631422C05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R6956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85492576-85527560 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85518052 bp (GRCm38)

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: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (43/43)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	T	A	14: 95,882,433	W209R	probably damaging	Het
Aars	G	A	8: 111,055,130	V945M	probably benign	Het
Amotl2	A	G	9: 102,724,768	T371A	probably damaging	Het
Bmpr1a	A	G	14: 34,441,175	I86T	possibly damaging	Het
C9	A	T	15: 6,445,464	M35L	probably benign	Het
Cc2d1a	G	T	8: 84,135,899	P661T	probably damaging	Het
Dcdc2a	T	A	13: 25,119,366	S293R	probably benign	Het
Dchs2	T	A	3: 83,353,926	N2500K	probably benign	Het
Dicer1	A	G	12: 104,731,023	S92P	probably damaging	Het
Dnah7a	T	A	1: 53,577,287	I1172F	probably benign	Het
Dnajc6	A	G	4: 101,614,273	S364G	probably damaging	Het
Dpp6	A	T	5: 27,598,821	N255I	probably damaging	Het
Eif2ak4	T	C	2: 118,422,267	I440T	probably damaging	Het
Fam155a	T	A	8: 9,770,744	Q92L	probably benign	Het
Fam184b	T	C	5: 45,530,757	T937A	probably damaging	Het
Fam229b	T	A	10: 39,133,847		probably null	Het
Gbp11	A	G	5: 105,328,375		probably null	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm4858	T	C	3: 93,073,972	V25A	possibly damaging	Het
H2-T3	T	A	17: 36,189,371	Y144F	probably damaging	Het
Kel	T	G	6: 41,687,973	D7A	probably damaging	Het
Lrrc7	A	G	3: 158,289,031	V166A	probably benign	Het
Mapt	T	C	11: 104,318,255		probably null	Het
March3	A	G	18: 56,775,981	V244A	probably benign	Het
Mboat1	T	C	13: 30,238,076	V396A	possibly damaging	Het
Mphosph9	T	C	5: 124,297,558	D604G	probably damaging	Het
Muc16	T	C	9: 18,645,026	T3324A	unknown	Het
Nat10	T	C	2: 103,734,412	I495V	probably benign	Het
Olfr784	A	T	10: 129,388,297	K221N	probably benign	Het
Pfkfb2	T	C	1: 130,707,600	N75D	probably damaging	Het
Psmd3	T	A	11: 98,695,551	L515Q	probably damaging	Het
Rpgrip1l	A	C	8: 91,286,313		probably null	Het
Scube1	T	C	15: 83,721,876	Y65C	probably damaging	Het
Slc12a4	A	G	8: 105,953,852	F211L	probably damaging	Het
Socs7	T	C	11: 97,377,023	S327P	probably benign	Het
Spef2	A	T	15: 9,684,935	D591E	probably damaging	Het
Sult2a6	T	A	7: 14,254,823	D4V	possibly damaging	Het
Tdrd9	A	G	12: 112,036,354		probably benign	Het
Tgm4	G	T	9: 123,064,703	M155I	possibly damaging	Het
Togaram2	T	C	17: 71,729,188	V891A	probably benign	Het
Usp1	A	G	4: 98,931,006	E235G	probably damaging	Het
Usp2	T	A	9: 44,092,756	V533E	probably damaging	Het
Vcan	T	A	13: 89,689,431	I2665F	probably damaging	Het
Vmn2r31	G	A	7: 7,394,506	S251L	probably benign	Het
Vmn2r84	C	A	10: 130,389,267	C458F	probably damaging	Het

Other mutations in Gpt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Gpt2	APN	8	85512324	missense	probably benign
IGL01611:Gpt2	APN	8	85519538	nonsense	probably null
IGL02385:Gpt2	APN	8	85516153	splice site	probably null
IGL02484:Gpt2	APN	8	85516233	missense	probably damaging	1.00
IGL02589:Gpt2	APN	8	85516166	nonsense	probably null
IGL02669:Gpt2	APN	8	85523279	missense	probably benign	0.02
R1191:Gpt2	UTSW	8	85509272	missense	probably damaging	1.00
R1599:Gpt2	UTSW	8	85512234	missense	probably damaging	1.00
R1944:Gpt2	UTSW	8	85517996	missense	probably damaging	1.00
R1953:Gpt2	UTSW	8	85521384	missense	probably benign	0.00
R1962:Gpt2	UTSW	8	85493135	missense	probably damaging	0.99
R1982:Gpt2	UTSW	8	85516203	missense	possibly damaging	0.75
R2283:Gpt2	UTSW	8	85516189	missense	probably benign
R3785:Gpt2	UTSW	8	85525573	missense	probably benign
R3786:Gpt2	UTSW	8	85525573	missense	probably benign
R3787:Gpt2	UTSW	8	85525573	missense	probably benign
R4402:Gpt2	UTSW	8	85525559	missense	probably benign	0.32
R4974:Gpt2	UTSW	8	85519439	splice site	probably benign
R5457:Gpt2	UTSW	8	85512338	missense	possibly damaging	0.90
R5589:Gpt2	UTSW	8	85493111	missense	probably damaging	1.00
R5734:Gpt2	UTSW	8	85523256	missense	probably benign	0.17
R5924:Gpt2	UTSW	8	85493004	missense	probably damaging	1.00
R6371:Gpt2	UTSW	8	85518052	missense	probably benign	0.03
R6651:Gpt2	UTSW	8	85518052	missense	probably benign	0.03
R6652:Gpt2	UTSW	8	85518052	missense	probably benign	0.03
R6895:Gpt2	UTSW	8	85518052	missense	probably benign	0.03
R6898:Gpt2	UTSW	8	85518052	missense	probably benign	0.03
R6923:Gpt2	UTSW	8	85518052	missense	probably benign	0.03
R6955:Gpt2	UTSW	8	85518052	missense	probably benign	0.03
R7112:Gpt2	UTSW	8	85518052	missense	probably benign	0.03
R7113:Gpt2	UTSW	8	85518052	missense	probably benign	0.03
R7115:Gpt2	UTSW	8	85518052	missense	probably benign	0.03
R7124:Gpt2	UTSW	8	85518052	missense	probably benign	0.03
R7125:Gpt2	UTSW	8	85518052	missense	probably benign	0.03
R7327:Gpt2	UTSW	8	85518052	missense	probably benign	0.03
R7486:Gpt2	UTSW	8	85525606	missense	probably damaging	0.98
R7582:Gpt2	UTSW	8	85519516	missense	probably damaging	1.00
R7986:Gpt2	UTSW	8	85509210	nonsense	probably null
R8274:Gpt2	UTSW	8	85516224	missense	probably benign	0.38
R8376:Gpt2	UTSW	8	85493065	missense	probably benign	0.00
X0058:Gpt2	UTSW	8	85518019	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TGGCCTTCACCTGACAACAG -3'
(R):5'- ATTCTTACACCAGCGGCAAG -3'

Sequencing Primer
(F):5'- ACAGGTTAACTCCGTACCTATG -3'
(R):5'- CAAGTGATGAAGGCTGCTTTCTAACC -3'

Posted On

2018-11-28