Mutagenetix > Incidental Mutation

Incidental Mutation 'R8084:Gls2'

629531

Institutional Source

Beutler Lab

Gene Symbol

Gls2

Ensembl Gene

ENSMUSG00000044005

Gene Name

glutaminase 2 (liver, mitochondrial)

Synonyms

Lga, A330074B06Rik

MMRRC Submission

067517-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8084 (G1)

Quality Score

211.009

Status

Validated

Chromosome

Chromosomal Location

128030504-128045873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128035125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 86 (R86H)

Ref Sequence

ENSEMBL: ENSMUSP00000119763 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044776] [ENSMUST00000123291] [ENSMUST00000143827] [ENSMUST00000159440]

AlphaFold

Q571F8

Predicted Effect

probably benign
Transcript: ENSMUST00000044776
AA Change: R86H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047376
Gene: ENSMUSG00000044005
AA Change: R86H

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

unknown
Transcript: ENSMUST00000123291
AA Change: V128I

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123385

Predicted Effect

SMART Domains

Protein: ENSMUSP00000123436
Gene: ENSMUSG00000044005
AA Change: R78H

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 damaging
Transcript: ENSMUST00000143827
AA Change: R86H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119763
Gene: ENSMUSG00000044005
AA Change: R86H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159440
AA Change: R86H

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124239
Gene: ENSMUSG00000044005
AA Change: R86H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145591

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 98.9%
20x: 96.2%

Validation Efficiency

100% (75/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,323,979 (GRCm39)	Y190N	probably benign	Het
Acsl3	G	A	1: 78,669,844 (GRCm39)	D238N	probably damaging	Het
Acss1	T	A	2: 150,484,701 (GRCm39)	I181F	probably damaging	Het
Ano5	A	G	7: 51,229,287 (GRCm39)	I610V	probably benign	Het
Anxa6	A	T	11: 54,894,834 (GRCm39)	F256I	probably damaging	Het
Ash2l	A	G	8: 26,321,322 (GRCm39)	S273P	probably benign	Het
Baz2b	T	G	2: 59,792,580 (GRCm39)	E516A	probably benign	Het
Bbs2	G	T	8: 94,814,056 (GRCm39)	D187E	probably damaging	Het
Cacna1b	T	A	2: 24,575,808 (GRCm39)	M747L	probably benign	Het
Cacna2d4	C	A	6: 119,277,313 (GRCm39)	D675E	probably damaging	Het
Calcr	G	A	6: 3,687,615 (GRCm39)	T461M	probably benign	Het
Catip	A	G	1: 74,403,515 (GRCm39)	K126E	probably damaging	Het
Chga	T	C	12: 102,528,328 (GRCm39)	I273T	probably benign	Het
Clasp2	G	A	9: 113,676,823 (GRCm39)	V185I	probably benign	Het
Cracr2a	A	G	6: 127,616,135 (GRCm39)	N370S	probably benign	Het
Crygc	A	T	1: 65,110,981 (GRCm39)	V102D	probably benign	Het
Ddx23	A	G	15: 98,556,145 (GRCm39)	S58P	unknown	Het
Dlgap5	C	T	14: 47,645,298 (GRCm39)	G281D	probably benign	Het
Dnah5	A	T	15: 28,388,099 (GRCm39)	Y3186F	probably damaging	Het
Dpp6	A	C	5: 27,836,397 (GRCm39)	I296L	probably benign	Het
Elfn2	C	T	15: 78,556,660 (GRCm39)	R629H	probably damaging	Het
Eml2	G	T	7: 18,915,149 (GRCm39)		probably null	Het
Fitm1	T	A	14: 55,813,906 (GRCm39)	V134E	probably damaging	Het
Flnb	A	G	14: 7,907,243 (GRCm38)	N1272S	probably benign	Het
Fuca1	G	A	4: 135,662,114 (GRCm39)	W347*	probably null	Het
Gabbr2	C	T	4: 46,736,349 (GRCm39)		probably null	Het
Grin2b	T	C	6: 135,710,486 (GRCm39)	K1020R	probably benign	Het
H2-DMb1	T	A	17: 34,376,327 (GRCm39)	W149R	probably damaging	Het
Herc1	T	A	9: 66,383,217 (GRCm39)	S3629R	probably benign	Het
Itih4	A	T	14: 30,621,400 (GRCm39)	N821I	possibly damaging	Het
Kmt2d	A	T	15: 98,739,945 (GRCm39)	L4731Q	unknown	Het
Loxhd1	A	T	18: 77,427,845 (GRCm39)	I472F	possibly damaging	Het
Lrp2	C	A	2: 69,339,713 (GRCm39)	C1066F	probably damaging	Het
Mllt10	T	A	2: 18,114,637 (GRCm39)	F114I	probably damaging	Het
N4bp1	T	C	8: 87,587,636 (GRCm39)	E434G	probably benign	Het
N6amt1	T	C	16: 87,151,228 (GRCm39)	F30L	probably damaging	Het
Naca	G	A	10: 127,877,400 (GRCm39)	V811I	unknown	Het
Nobox	A	C	6: 43,282,101 (GRCm39)	I324S	possibly damaging	Het
Nup210l	T	C	3: 90,043,365 (GRCm39)	S442P	probably benign	Het
Or6c2	A	T	10: 129,362,809 (GRCm39)	T238S	probably damaging	Het
Osbpl1a	A	T	18: 13,038,099 (GRCm39)	L284Q	probably damaging	Het
Pals1	A	T	12: 78,867,625 (GRCm39)	Q336L	probably benign	Het
Pcdhb20	A	C	18: 37,639,226 (GRCm39)	Y584S	possibly damaging	Het
Pgpep1l	A	T	7: 67,887,519 (GRCm39)	F27Y	probably benign	Het
Pik3cg	T	G	12: 32,245,687 (GRCm39)	I854L	probably benign	Het
Pot1a	C	T	6: 25,771,535 (GRCm39)	V229M	possibly damaging	Het
Prh1	C	T	6: 132,548,822 (GRCm39)	P110S	unknown	Het
Prkag3	C	T	1: 74,786,366 (GRCm39)	C193Y	probably damaging	Het
Prl2c5	T	C	13: 13,360,539 (GRCm39)	F69L	probably benign	Het
Ptprq	T	C	10: 107,444,294 (GRCm39)	T1437A	probably benign	Het
Rabgap1	T	C	2: 37,427,317 (GRCm39)	Y633H	probably damaging	Het
Rad54l2	G	A	9: 106,590,701 (GRCm39)	T475I	possibly damaging	Het
Retreg1	C	A	15: 25,969,885 (GRCm39)	A130E	probably benign	Het
Rps6kb1	G	T	11: 86,426,262 (GRCm39)	H56N	probably benign	Het
Sars2	A	G	7: 28,449,710 (GRCm39)	H385R	probably damaging	Het
Sbpl	T	G	17: 24,172,244 (GRCm39)	N225T	unknown	Het
Scml4	T	C	10: 42,806,602 (GRCm39)		probably null	Het
Scrib	G	A	15: 75,937,940 (GRCm39)	T302M	probably benign	Het
Sdk2	G	A	11: 113,717,915 (GRCm39)	T1483I	possibly damaging	Het
Sh3bgrl3	A	G	4: 133,855,390 (GRCm39)	S19P	probably damaging	Het
Slc10a6	C	T	5: 103,760,327 (GRCm39)	V223I	probably benign	Het
Slc4a3	A	G	1: 75,532,589 (GRCm39)	T950A	probably benign	Het
Spats2	A	T	15: 99,064,961 (GRCm39)	D9V	possibly damaging	Het
Sphk1	A	T	11: 116,425,904 (GRCm39)		probably null	Het
Tex10	A	T	4: 48,431,066 (GRCm39)	S897R	probably benign	Het
Tmco3	T	C	8: 13,353,873 (GRCm39)	V395A	probably damaging	Het
Ttc7b	A	G	12: 100,350,432 (GRCm39)	L478P	probably damaging	Het
Ubac2	T	C	14: 122,220,717 (GRCm39)	M184T	probably benign	Het
Wdr95	T	C	5: 149,511,598 (GRCm39)	S433P	probably damaging	Het
Zfp202	T	A	9: 40,122,538 (GRCm39)	H433Q	probably benign	Het
Zfp526	G	T	7: 24,924,737 (GRCm39)	R332L	probably damaging	Het

Other mutations in Gls2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Gls2	APN	10	128,036,840 (GRCm39)	splice site	probably null
IGL00583:Gls2	APN	10	128,040,751 (GRCm39)	missense	probably benign	0.11
IGL01444:Gls2	APN	10	128,037,216 (GRCm39)	missense	probably damaging	1.00
IGL02746:Gls2	APN	10	128,036,825 (GRCm39)	missense	probably damaging	1.00
R0015:Gls2	UTSW	10	128,045,219 (GRCm39)	missense	probably damaging	1.00
R0024:Gls2	UTSW	10	128,035,125 (GRCm39)	missense	probably damaging	1.00
R0378:Gls2	UTSW	10	128,043,180 (GRCm39)	missense	probably benign
R1179:Gls2	UTSW	10	128,035,103 (GRCm39)	missense	probably damaging	1.00
R1227:Gls2	UTSW	10	128,035,533 (GRCm39)	missense	probably damaging	1.00
R1421:Gls2	UTSW	10	128,037,217 (GRCm39)	nonsense	probably null
R1750:Gls2	UTSW	10	128,037,194 (GRCm39)	missense	probably damaging	1.00
R1952:Gls2	UTSW	10	128,045,231 (GRCm39)	missense	probably benign
R2218:Gls2	UTSW	10	128,040,583 (GRCm39)	missense	probably damaging	1.00
R2291:Gls2	UTSW	10	128,043,479 (GRCm39)	nonsense	probably null
R2382:Gls2	UTSW	10	128,039,711 (GRCm39)	missense	probably damaging	1.00
R4536:Gls2	UTSW	10	128,036,806 (GRCm39)	missense	probably benign	0.00
R5305:Gls2	UTSW	10	128,040,578 (GRCm39)	nonsense	probably null
R5435:Gls2	UTSW	10	128,030,995 (GRCm39)	intron	probably benign
R5767:Gls2	UTSW	10	128,041,090 (GRCm39)	missense	probably damaging	1.00
R7223:Gls2	UTSW	10	128,035,063 (GRCm39)	missense	probably benign
R7767:Gls2	UTSW	10	128,030,998 (GRCm39)	missense	unknown
R8068:Gls2	UTSW	10	128,030,983 (GRCm39)	missense	unknown
R8329:Gls2	UTSW	10	128,037,154 (GRCm39)	missense	probably benign	0.00
R8872:Gls2	UTSW	10	128,040,535 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTAGGATGACAGCCCATGAC -3'
(R):5'- CGAAAGGTGTTCTCCTCTGGAC -3'

Sequencing Primer
(F):5'- ATGACAGGTCCGTGTTCCAG -3'
(R):5'- CTCCTCTGGACTTGGGGGAAG -3'

Posted On

2020-06-30