Mutagenetix > Incidental Mutation

Incidental Mutation 'R1750:Gls2'

193428

Institutional Source

Beutler Lab

Gene Symbol

Gls2

Ensembl Gene

ENSMUSG00000044005

Gene Name

glutaminase 2 (liver, mitochondrial)

Synonyms

Lga, A330074B06Rik

MMRRC Submission

039782-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1750 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128194457-128210004 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128201325 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 245 (E245G)

Ref Sequence

ENSEMBL: ENSMUSP00000047376 (fasta)

Gene Model

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

AlphaFold

Q571F8

Predicted Effect

probably damaging
Transcript: ENSMUST00000044776
AA Change: E245G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047376
Gene: ENSMUSG00000044005
AA Change: E245G

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: ENSMUST00000123291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123385

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

noncoding transcript
Transcript: ENSMUST00000152928

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

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	G	T	7: 131,146,130 (GRCm38)	N44K	probably benign	Het
Acd	C	A	8: 105,698,892 (GRCm38)	A270S	possibly damaging	Het
Acnat1	G	A	4: 49,451,042 (GRCm38)	T23I	probably benign	Het
Adam26a	T	G	8: 43,570,189 (GRCm38)	E88A	possibly damaging	Het
Adgrb1	G	A	15: 74,541,827 (GRCm38)	V589M	probably benign	Het
Agbl2	T	A	2: 90,816,376 (GRCm38)		probably benign	Het
Aif1	G	A	17: 35,172,151 (GRCm38)	P44L	probably benign	Het
Amh	AGCGCCTTGG	AG	10: 80,805,585 (GRCm38)		probably null	Het
Asap2	T	C	12: 21,203,998 (GRCm38)	L170P	probably damaging	Het
Btg2	T	C	1: 134,079,031 (GRCm38)	D8G	probably benign	Het
C530008M17Rik	A	G	5: 76,857,675 (GRCm38)	I628V	unknown	Het
Cacna1g	A	T	11: 94,443,292 (GRCm38)	V841E	probably damaging	Het
Cacna2d1	C	T	5: 16,264,288 (GRCm38)	P230L	probably benign	Het
Cacna2d2	A	T	9: 107,524,644 (GRCm38)	D766V	probably damaging	Het
Carns1	A	G	19: 4,173,157 (GRCm38)	W23R	possibly damaging	Het
Cdk11b	T	A	4: 155,628,680 (GRCm38)		probably null	Het
Chrna3	T	C	9: 55,016,057 (GRCm38)	S156G	probably damaging	Het
Cmya5	A	T	13: 93,095,663 (GRCm38)	N972K	probably benign	Het
Cpne7	C	A	8: 123,134,524 (GRCm38)	P541T	probably damaging	Het
Csmd1	A	T	8: 15,917,303 (GRCm38)	L3187I	probably damaging	Het
Dbt	A	G	3: 116,546,294 (GRCm38)	I404V	probably benign	Het
Dgki	A	T	6: 36,916,434 (GRCm38)	I819K	probably damaging	Het
Dip2b	T	A	15: 100,178,466 (GRCm38)	S782T	probably benign	Het
Dlc1	A	T	8: 36,858,090 (GRCm38)		probably null	Het
Dnajc13	A	T	9: 104,221,477 (GRCm38)	V459E	probably damaging	Het
Enam	A	G	5: 88,503,227 (GRCm38)	E790G	probably damaging	Het
Epb41l4a	G	C	18: 33,828,208 (GRCm38)	Y424*	probably null	Het
Extl1	A	G	4: 134,362,688 (GRCm38)	S370P	probably benign	Het
Fan1	T	C	7: 64,373,013 (GRCm38)	Y164C	probably benign	Het
Fbxw15	G	A	9: 109,558,246 (GRCm38)	S227F	probably damaging	Het
Fbxw25	A	T	9: 109,650,073 (GRCm38)	I370N	probably benign	Het
Fcgbp	T	A	7: 28,093,443 (GRCm38)	Y957*	probably null	Het
Gkap1	C	A	13: 58,237,043 (GRCm38)	E77*	probably null	Het
Gkn1	A	T	6: 87,349,123 (GRCm38)	N28K	unknown	Het
Glyat	G	A	19: 12,646,315 (GRCm38)	V32I	probably benign	Het
Gm2431	A	T	7: 142,258,025 (GRCm38)	C47*	probably null	Het
Gm5431	T	C	11: 48,894,831 (GRCm38)	D239G	probably benign	Het
Gm9573	T	A	17: 35,621,048 (GRCm38)		probably benign	Het
Inpp5d	T	C	1: 87,699,081 (GRCm38)	F540L	probably damaging	Het
Kcna1	A	C	6: 126,642,808 (GRCm38)	I183S	probably benign	Het
Kpna2	G	T	11: 106,991,445 (GRCm38)	L212I	probably damaging	Het
Krt36	C	G	11: 100,104,058 (GRCm38)	R229S	probably benign	Het
Krt78	G	A	15: 101,946,377 (GRCm38)	H1000Y	probably benign	Het
Krt90	A	G	15: 101,553,365 (GRCm38)		probably benign	Het
Ldlrad4	C	A	18: 68,106,687 (GRCm38)	F59L	probably benign	Het
Lrrc3b	T	C	14: 15,358,601 (GRCm38)	N2D	probably benign	Het
Madd	T	C	2: 91,167,891 (GRCm38)	D239G	probably damaging	Het
Mapk8ip3	C	T	17: 24,914,459 (GRCm38)	G332S	probably null	Het
Mastl	A	T	2: 23,146,081 (GRCm38)	L141*	probably null	Het
Mdh1b	T	C	1: 63,719,522 (GRCm38)	N304D	probably benign	Het
Mfsd4b3	G	T	10: 39,947,933 (GRCm38)	N110K	probably benign	Het
Mtus2	T	C	5: 148,277,633 (GRCm38)	S1035P	probably damaging	Het
Myh11	T	A	16: 14,200,758 (GRCm38)	D1908V	probably damaging	Het
Myh11	T	C	16: 14,215,790 (GRCm38)	E1080G	probably damaging	Het
Mypn	A	C	10: 63,136,197 (GRCm38)	M688R	probably benign	Het
Nat8l	G	T	5: 34,000,786 (GRCm38)	C180F	probably damaging	Het
Nip7	T	A	8: 107,057,386 (GRCm38)	L86Q	probably damaging	Het
Nisch	C	T	14: 31,174,882 (GRCm38)		probably benign	Het
Nop2	A	G	6: 125,137,638 (GRCm38)	I283V	probably benign	Het
Oas1h	T	A	5: 120,871,777 (GRCm38)		probably null	Het
Olfr1118	T	C	2: 87,308,852 (GRCm38)	V41A	probably benign	Het
Olfr1141	T	A	2: 87,753,186 (GRCm38)	D269V	probably damaging	Het
Olfr117	A	C	17: 37,659,673 (GRCm38)	I220S	probably damaging	Het
Olfr1188	C	A	2: 88,560,058 (GRCm38)	D185E	possibly damaging	Het
Olfr1199	T	C	2: 88,755,773 (GRCm38)	R301G	probably benign	Het
Olfr504	A	T	7: 108,565,357 (GRCm38)	L146*	probably null	Het
Olfr901	T	A	9: 38,430,690 (GRCm38)	M136K	probably damaging	Het
P4hb	A	G	11: 120,562,720 (GRCm38)	V373A	probably damaging	Het
Pappa2	C	A	1: 158,763,150 (GRCm38)	E1645*	probably null	Het
Pcdh10	G	T	3: 45,381,881 (GRCm38)	E877*	probably null	Het
Pcdhb17	C	T	18: 37,485,711 (GRCm38)	R185C	probably damaging	Het
Pcdhb17	A	G	18: 37,487,017 (GRCm38)	H620R	possibly damaging	Het
Pdcl3	T	A	1: 38,995,865 (GRCm38)	F168I	probably damaging	Het
Pde4a	T	A	9: 21,203,232 (GRCm38)	I365N	probably damaging	Het
Pdzd2	A	G	15: 12,385,864 (GRCm38)	V940A	probably damaging	Het
Picalm	T	A	7: 90,191,182 (GRCm38)	S399T	possibly damaging	Het
Pigk	A	T	3: 152,744,464 (GRCm38)	I249F	probably damaging	Het
Plxnb1	C	A	9: 109,111,768 (GRCm38)	H1570Q	probably benign	Het
Plxnc1	A	G	10: 94,799,497 (GRCm38)	Y1321H	probably damaging	Het
Ppm1g	G	A	5: 31,206,216 (GRCm38)	S114F	probably damaging	Het
Rassf4	A	G	6: 116,640,267 (GRCm38)	M259T	probably damaging	Het
Rbm47	T	C	5: 66,019,310 (GRCm38)	K557E	possibly damaging	Het
Rhobtb1	A	G	10: 69,279,406 (GRCm38)	K21R	probably damaging	Het
Selenoi	T	C	5: 30,257,773 (GRCm38)	F212S	probably benign	Het
Shc3	T	G	13: 51,449,292 (GRCm38)	Y259S	probably damaging	Het
Slc11a2	T	C	15: 100,401,287 (GRCm38)	N134S	probably damaging	Het
Slc9a7	A	T	X: 20,162,478 (GRCm38)	M368K	probably damaging	Het
Slx4ip	T	A	2: 137,046,749 (GRCm38)	C117S	probably damaging	Het
Spata31d1d	T	A	13: 59,728,695 (GRCm38)	Q342L	probably benign	Het
Spink13	T	A	18: 62,607,749 (GRCm38)	Y93F	probably damaging	Het
St6galnac5	A	T	3: 152,846,321 (GRCm38)	I203N	possibly damaging	Het
Syne2	T	A	12: 76,052,805 (GRCm38)	C5335S	probably damaging	Het
Tagap	T	A	17: 7,929,910 (GRCm38)	D173E	probably benign	Het
Tekt3	A	C	11: 63,070,041 (GRCm38)	Y12S	probably damaging	Het
Tmem81	T	A	1: 132,507,583 (GRCm38)	N42K	probably damaging	Het
Tnc	A	G	4: 63,972,735 (GRCm38)	W1728R	probably damaging	Het
Ttc30a1	C	T	2: 75,980,255 (GRCm38)	V495I	probably benign	Het
Ttc33	C	T	15: 5,212,098 (GRCm38)	R135*	probably null	Het
Ttc37	T	A	13: 76,140,601 (GRCm38)	L951Q	possibly damaging	Het
Unc5c	A	G	3: 141,827,517 (GRCm38)	D842G	possibly damaging	Het
Usp43	A	T	11: 67,879,953 (GRCm38)	H618Q	probably damaging	Het
Vmn2r50	T	G	7: 10,052,988 (GRCm38)	N64T	possibly damaging	Het
Vmn2r53	T	C	7: 12,581,705 (GRCm38)	Y729C	probably damaging	Het
Vmn2r59	T	A	7: 42,045,827 (GRCm38)	H387L	possibly damaging	Het
Vstm2a	G	T	11: 16,263,166 (GRCm38)	V184F	possibly damaging	Het
Wdr53	T	G	16: 32,252,117 (GRCm38)	N93K	probably damaging	Het
Wdr95	A	G	5: 149,581,886 (GRCm38)		probably null	Het
Xpot	A	T	10: 121,603,027 (GRCm38)		probably null	Het
Xrcc5	C	T	1: 72,325,087 (GRCm38)	Q233*	probably null	Het
Zbtb18	T	A	1: 177,447,511 (GRCm38)	C137S	possibly damaging	Het
Zfp58	C	A	13: 67,491,479 (GRCm38)	G298*	probably null	Het
Zfp963	A	G	8: 69,743,450 (GRCm38)	S118P	possibly damaging	Het
Zmynd15	A	T	11: 70,462,567 (GRCm38)	Q336L	probably benign	Het

Other mutations in Gls2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Gls2	APN	10	128,200,971 (GRCm38)	splice site	probably null
IGL00583:Gls2	APN	10	128,204,882 (GRCm38)	missense	probably benign	0.11
IGL01444:Gls2	APN	10	128,201,347 (GRCm38)	missense	probably damaging	1.00
IGL02746:Gls2	APN	10	128,200,956 (GRCm38)	missense	probably damaging	1.00
R0015:Gls2	UTSW	10	128,209,350 (GRCm38)	missense	probably damaging	1.00
R0024:Gls2	UTSW	10	128,199,256 (GRCm38)	missense	probably damaging	1.00
R0378:Gls2	UTSW	10	128,207,311 (GRCm38)	missense	probably benign
R1179:Gls2	UTSW	10	128,199,234 (GRCm38)	missense	probably damaging	1.00
R1227:Gls2	UTSW	10	128,199,664 (GRCm38)	missense	probably damaging	1.00
R1421:Gls2	UTSW	10	128,201,348 (GRCm38)	nonsense	probably null
R1952:Gls2	UTSW	10	128,209,362 (GRCm38)	missense	probably benign
R2218:Gls2	UTSW	10	128,204,714 (GRCm38)	missense	probably damaging	1.00
R2291:Gls2	UTSW	10	128,207,610 (GRCm38)	nonsense	probably null
R2382:Gls2	UTSW	10	128,203,842 (GRCm38)	missense	probably damaging	1.00
R4536:Gls2	UTSW	10	128,200,937 (GRCm38)	missense	probably benign	0.00
R5305:Gls2	UTSW	10	128,204,709 (GRCm38)	nonsense	probably null
R5435:Gls2	UTSW	10	128,195,126 (GRCm38)	intron	probably benign
R5767:Gls2	UTSW	10	128,205,221 (GRCm38)	missense	probably damaging	1.00
R7223:Gls2	UTSW	10	128,199,194 (GRCm38)	missense	probably benign
R7767:Gls2	UTSW	10	128,195,129 (GRCm38)	missense	unknown
R8068:Gls2	UTSW	10	128,195,114 (GRCm38)	missense	unknown
R8084:Gls2	UTSW	10	128,199,256 (GRCm38)	missense	probably damaging	1.00
R8329:Gls2	UTSW	10	128,201,285 (GRCm38)	missense	probably benign	0.00
R8872:Gls2	UTSW	10	128,204,666 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGTGAGGAACAAAGTCTAGCCCC -3'
(R):5'- GACGGATGTGGCAGCTATCACTAAC -3'

Sequencing Primer
(F):5'- GGAACAAAGTCTAGCCCCTTTTATG -3'
(R):5'- GCACTGTTCCCActctgaag -3'

Posted On

2014-05-23