Mutagenetix > Incidental Mutations

Incidental Mutation 'R5767:Gls2'

446339

Institutional Source

Beutler Lab

Gene Symbol

Gls2

Ensembl Gene

ENSMUSG00000044005

Gene Name

glutaminase 2 (liver, mitochondrial)

Synonyms

Lga, A330074B06Rik

MMRRC Submission

043367-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5767 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128194457-128210004 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128205221 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 394 (H394R)

Ref Sequence

ENSEMBL: ENSMUSP00000047376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044776] [ENSMUST00000061995] [ENSMUST00000143827] [ENSMUST00000159440]

Predicted Effect

probably damaging
Transcript: ENSMUST00000044776
AA Change: H394R

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

SMART Domains

Protein: ENSMUSP00000047376
Gene: ENSMUSG00000044005
AA Change: H394R

Domain	Start	End	E-Value	Type
Pfam:Glutaminase	177	463	1.1e-116	PFAM
ANK	518	548	3.76e-5	SMART
ANK	552	581	1.21e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000061995

SMART Domains

Protein: ENSMUSP00000054731
Gene: ENSMUSG00000051346

Domain	Start	End	E-Value	Type
Blast:PRY	29	84	2e-26	BLAST
Pfam:SPRY	87	199	1.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132441

SMART Domains

Protein: ENSMUSP00000115788
Gene: ENSMUSG00000044005

Domain	Start	End	E-Value	Type
Pfam:Glutaminase	1	37	7.9e-9	PFAM
ANK	92	122	3.76e-5	SMART
ANK	126	155	1.21e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134104

SMART Domains

Protein: ENSMUSP00000123436
Gene: ENSMUSG00000044005

Domain	Start	End	E-Value	Type
PDB:4JKT\|D	60	172	1e-48	PDB
low complexity region	191	201	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135441

Predicted Effect

probably benign
Transcript: ENSMUST00000143827

SMART Domains

Protein: ENSMUSP00000119763
Gene: ENSMUSG00000044005

Domain	Start	End	E-Value	Type
PDB:4JKT\|D	67	135	5e-25	PDB
low complexity region	170	186	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145591

Predicted Effect

probably benign
Transcript: ENSMUST00000159440

SMART Domains

Protein: ENSMUSP00000124239
Gene: ENSMUSG00000044005

Domain	Start	End	E-Value	Type
PDB:4JKT\|D	67	134	9e-25	PDB

Meta Mutation Damage Score

0.7095

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	A	T	10: 89,726,755	D87E	probably damaging	Het
AI429214	TCCCTGATGAAC	TC	8: 36,994,229		probably null	Het
Ano3	A	T	2: 110,661,271	Y887N	probably damaging	Het
Arid4a	A	G	12: 71,060,093	D313G	probably damaging	Het
Armc2	A	G	10: 42,011,927	V20A	probably benign	Het
C2	T	A	17: 34,876,456	N171I	possibly damaging	Het
Cdh1	C	A	8: 106,668,555	N865K	probably damaging	Het
Cep89	T	A	7: 35,417,645	V224E	probably damaging	Het
Dennd2d	C	T	3: 106,487,815		probably benign	Het
Diaph1	T	A	18: 37,853,355	K1157N	probably damaging	Het
Dsg4	T	A	18: 20,462,492	L584*	probably null	Het
Exoc4	G	A	6: 33,918,432	A795T	probably benign	Het
Fbln5	A	T	12: 101,765,209	I242N	probably damaging	Het
Gm27013	C	T	6: 130,675,958	C847Y	possibly damaging	Het
Ifna5	C	A	4: 88,835,799	T92K	possibly damaging	Het
Ireb2	A	G	9: 54,900,516	M674V	probably benign	Het
Itga2	C	T	13: 114,839,570	V1089M	possibly damaging	Het
Kctd16	A	T	18: 40,258,869	Y170F	probably benign	Het
Kif15	A	G	9: 123,013,974	N45D	possibly damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Mink1	A	G	11: 70,606,075	K420E	possibly damaging	Het
Ms4a14	G	T	19: 11,302,027	Q1056K	probably benign	Het
Olfr1053	T	A	2: 86,314,398	E296V	probably damaging	Het
Olfr175-ps1	T	C	16: 58,823,953	Y252C	probably benign	Het
Olfr738	T	C	14: 50,413,778	V78A	possibly damaging	Het
Ovch2	T	C	7: 107,781,978	E571G	probably benign	Het
Pmel	T	C	10: 128,714,381	V95A	probably damaging	Het
Ptger2	G	T	14: 44,989,142	G60C	probably benign	Het
Ranbp2	T	G	10: 58,476,825	S1122R	probably benign	Het
Rasal2	T	C	1: 157,176,162	D309G	probably damaging	Het
Rcc2	T	A	4: 140,715,919	C303S	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Serpini1	C	T	3: 75,613,081		probably benign	Het
Sgo2a	G	T	1: 58,019,660	E1133*	probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Smarcc1	G	A	9: 110,132,183		probably benign	Het
Tbcd	A	G	11: 121,592,692	E749G	probably benign	Het
Tmc3	G	A	7: 83,599,982	A260T	probably benign	Het
Tnfrsf21	A	G	17: 43,037,659	Y54C	probably damaging	Het
Uhrf1bp1l	A	G	10: 89,787,199	D312G	possibly damaging	Het
Urb1	T	A	16: 90,776,163	M994L	probably benign	Het
Usp14	A	T	18: 10,009,935		probably benign	Het
Vps13a	T	C	19: 16,664,564	Y2233C	probably damaging	Het
Wdr66	G	A	5: 123,298,521	V1038I	probably benign	Het
Wnt2	G	T	6: 17,990,028	A290E	probably damaging	Het
Zc3h8	A	T	2: 128,930,892	C225*	probably null	Het

Other mutations in Gls2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Gls2	APN	10	128200971	splice site	probably null
IGL00583:Gls2	APN	10	128204882	missense	probably benign	0.11
IGL01444:Gls2	APN	10	128201347	missense	probably damaging	1.00
IGL02746:Gls2	APN	10	128200956	missense	probably damaging	1.00
R0015:Gls2	UTSW	10	128209350	missense	probably damaging	1.00
R0024:Gls2	UTSW	10	128199256	missense	probably damaging	1.00
R0378:Gls2	UTSW	10	128207311	missense	probably benign
R1179:Gls2	UTSW	10	128199234	missense	probably damaging	1.00
R1227:Gls2	UTSW	10	128199664	missense	probably damaging	1.00
R1421:Gls2	UTSW	10	128201348	nonsense	probably null
R1750:Gls2	UTSW	10	128201325	missense	probably damaging	1.00
R1952:Gls2	UTSW	10	128209362	missense	probably benign
R2218:Gls2	UTSW	10	128204714	missense	probably damaging	1.00
R2291:Gls2	UTSW	10	128207610	nonsense	probably null
R2382:Gls2	UTSW	10	128203842	missense	probably damaging	1.00
R4536:Gls2	UTSW	10	128200937	missense	probably benign	0.00
R5305:Gls2	UTSW	10	128204709	nonsense	probably null
R5435:Gls2	UTSW	10	128195126	intron	probably benign
R7223:Gls2	UTSW	10	128199194	missense	probably benign
R7767:Gls2	UTSW	10	128195129	missense	unknown
R8068:Gls2	UTSW	10	128195114	missense	unknown
R8084:Gls2	UTSW	10	128199256	missense	probably damaging	1.00
R8329:Gls2	UTSW	10	128201285	missense	probably benign	0.00
R8872:Gls2	UTSW	10	128204666	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCCCTCCTGTTAAACGGTAG -3'
(R):5'- GCATCTAAGATGGGAGCCAG -3'

Sequencing Primer
(F):5'- TAATGTGTTCGAGTCTACACTGC -3'
(R):5'- CTTAGCCTATTTGCCTGG -3'

Posted On

2016-11-21