Mutagenetix > Incidental Mutation

Incidental Mutation 'R7223:Gls2'

561956

Institutional Source

Beutler Lab

Gene Symbol

Gls2

Ensembl Gene

ENSMUSG00000044005

Gene Name

glutaminase 2 (liver, mitochondrial)

Synonyms

Lga, A330074B06Rik

MMRRC Submission

045295-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128030504-128045873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 128035063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 65 (H65Q)

Ref Sequence

ENSEMBL: ENSMUSP00000047376 (fasta)

Gene Model

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

AlphaFold

Q571F8

Predicted Effect

probably benign
Transcript: ENSMUST00000044776
AA Change: H65Q

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

SMART Domains

Protein: ENSMUSP00000047376
Gene: ENSMUSG00000044005
AA Change: H65Q

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: T107K

Predicted Effect

SMART Domains

Protein: ENSMUSP00000123436
Gene: ENSMUSG00000044005
AA Change: H57Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143827
AA Change: H65Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000119763
Gene: ENSMUSG00000044005
AA Change: H65Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159440
AA Change: H65Q

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

SMART Domains

Protein: ENSMUSP00000124239
Gene: ENSMUSG00000044005
AA Change: H65Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,104,487 (GRCm39)	V733E	probably benign	Het
Adam34	A	T	8: 44,105,041 (GRCm39)	N201K	probably benign	Het
Aldh3b2	A	C	19: 4,029,592 (GRCm39)	S322R	probably damaging	Het
Anpep	A	T	7: 79,475,058 (GRCm39)	L914Q	probably damaging	Het
Arhgap30	T	C	1: 171,235,139 (GRCm39)	F535S	probably damaging	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Baz2a	G	T	10: 127,948,475 (GRCm39)	G252V	probably damaging	Het
Brinp3	T	A	1: 146,776,812 (GRCm39)	S420T	possibly damaging	Het
Carmil3	T	C	14: 55,733,695 (GRCm39)	F359S	possibly damaging	Het
Ccdc124	A	T	8: 71,321,170 (GRCm39)	L190Q	probably damaging	Het
Ccr6	T	C	17: 8,474,972 (GRCm39)	V59A	probably damaging	Het
Ccr8	T	A	9: 119,923,683 (GRCm39)	I266N	probably damaging	Het
Cdh23	T	A	10: 60,167,596 (GRCm39)	E1798V	probably damaging	Het
Cdk5rap2	T	C	4: 70,153,684 (GRCm39)	N1713S	probably benign	Het
Cep19	T	A	16: 31,922,833 (GRCm39)	I33N	probably damaging	Het
Cers3	A	T	7: 66,433,163 (GRCm39)	Y196F	probably damaging	Het
Cidea	T	C	18: 67,499,491 (GRCm39)	I126T	probably damaging	Het
Copg2	A	T	6: 30,789,689 (GRCm39)	Y546*	probably null	Het
Cul3	A	T	1: 80,264,717 (GRCm39)	V261E	probably benign	Het
Cyp2g1	A	T	7: 26,514,057 (GRCm39)	D221V	probably damaging	Het
Cyp8b1	G	A	9: 121,744,163 (GRCm39)	H390Y	probably damaging	Het
Daam1	T	C	12: 72,035,717 (GRCm39)	F971L	probably damaging	Het
Dnajc24	G	A	2: 105,832,311 (GRCm39)	S24L	possibly damaging	Het
Dpysl3	T	C	18: 43,571,107 (GRCm39)	S56G	probably benign	Het
Esp1	A	G	17: 41,041,972 (GRCm39)	D88G	probably benign	Het
Fam171b	A	G	2: 83,708,574 (GRCm39)	T359A	probably damaging	Het
Fam186b	T	C	15: 99,177,718 (GRCm39)	E536G	possibly damaging	Het
Fbxo3	T	C	2: 103,873,357 (GRCm39)	V156A	possibly damaging	Het
Gp2	A	G	7: 119,050,721 (GRCm39)		probably null	Het
Gpcpd1	T	A	2: 132,375,976 (GRCm39)	K435I	probably benign	Het
Gpx6	T	A	13: 21,501,840 (GRCm39)		probably null	Het
Hps3	A	T	3: 20,084,583 (GRCm39)	S202T	probably benign	Het
Htr1d	T	A	4: 136,170,812 (GRCm39)	L347H	probably damaging	Het
Igfals	T	C	17: 25,100,208 (GRCm39)	L433P	probably damaging	Het
Ilvbl	C	T	10: 78,419,530 (GRCm39)	H537Y	probably benign	Het
Iqgap2	A	T	13: 95,765,480 (GRCm39)	M1530K	probably damaging	Het
Jarid2	A	G	13: 45,049,798 (GRCm39)	T247A	possibly damaging	Het
L3hypdh	C	T	12: 72,120,783 (GRCm39)	V323I	possibly damaging	Het
Lama3	C	T	18: 12,715,665 (GRCm39)	T1707I	possibly damaging	Het
Map6	G	T	7: 98,917,232 (GRCm39)	A2S	probably damaging	Het
Mfap3	T	A	11: 57,421,066 (GRCm39)	I349K	probably benign	Het
Mybl2	A	G	2: 162,914,625 (GRCm39)	T248A	probably benign	Het
N6amt1	A	G	16: 87,159,548 (GRCm39)	*151W	probably null	Het
Nhlrc1	A	G	13: 47,167,684 (GRCm39)	V191A	probably benign	Het
Nkx2-5	T	C	17: 27,058,594 (GRCm39)	E120G	possibly damaging	Het
Or2y10	T	A	11: 49,454,925 (GRCm39)	M59K	probably damaging	Het
Or52r1b	C	A	7: 102,690,839 (GRCm39)	T46N	possibly damaging	Het
Or8b41	T	C	9: 38,055,049 (GRCm39)	V201A	probably benign	Het
Or8k28	T	A	2: 86,286,211 (GRCm39)	I135F	possibly damaging	Het
Pcdha8	T	G	18: 37,126,201 (GRCm39)	L228V	probably benign	Het
Pcsk2	A	G	2: 143,532,253 (GRCm39)	T134A	possibly damaging	Het
Phldb3	G	A	7: 24,324,078 (GRCm39)	R484Q	probably benign	Het
Pipox	A	G	11: 77,772,012 (GRCm39)	S371P	probably damaging	Het
Plekhg1	T	C	10: 3,823,343 (GRCm39)	S159P		Het
Psme4	C	T	11: 30,824,226 (GRCm39)	P1737S	probably benign	Het
Pygm	G	A	19: 6,438,893 (GRCm39)	D328N	probably benign	Het
Rabgef1	A	T	5: 130,219,801 (GRCm39)	E88V	probably benign	Het
Rims2	G	T	15: 39,300,428 (GRCm39)	R245L	probably benign	Het
Slc38a4	T	C	15: 96,908,226 (GRCm39)	I172V	probably damaging	Het
Slc4a10	T	A	2: 62,099,009 (GRCm39)	Y586N	probably damaging	Het
Snap91	C	T	9: 86,761,610 (GRCm39)		probably benign	Het
Sorcs1	C	T	19: 50,178,480 (GRCm39)	V881I	probably benign	Het
Spef2	A	T	15: 9,601,726 (GRCm39)	V1512E	unknown	Het
Sufu	T	C	19: 46,441,716 (GRCm39)	I292T	possibly damaging	Het
Tet1	T	C	10: 62,649,450 (GRCm39)	N87D	possibly damaging	Het
Tmem108	T	C	9: 103,376,733 (GRCm39)	T239A	not run	Het
Tmem121	A	T	12: 113,152,114 (GRCm39)	K111*	probably null	Het
Tpp2	T	A	1: 44,008,048 (GRCm39)	D417E	probably damaging	Het
Tpr	G	A	1: 150,315,007 (GRCm39)	E2025K	possibly damaging	Het
Trappc3	C	T	4: 126,168,945 (GRCm39)	A145V	possibly damaging	Het
Ttn	T	C	2: 76,721,325 (GRCm39)	D6754G	probably null	Het
Unc13c	T	A	9: 73,536,473 (GRCm39)	M1627L	probably benign	Het
Ush2a	A	G	1: 188,542,414 (GRCm39)	I3327V	probably benign	Het
Vmn1r74	C	T	7: 11,580,894 (GRCm39)	Q65*	probably null	Het
Wdr18	G	A	10: 79,796,202 (GRCm39)	R69H	probably damaging	Het
Zbed5	G	T	5: 129,929,279 (GRCm39)	D132Y	probably damaging	Het
Zfp644	A	T	5: 106,785,448 (GRCm39)	Y366*	probably null	Het
Zfyve26	T	C	12: 79,292,945 (GRCm39)	N2068S	probably damaging	Het
Zic2	T	C	14: 122,713,503 (GRCm39)	F139S	probably damaging	Het
Zmynd11	T	C	13: 9,760,198 (GRCm39)	Q141R	probably benign	Het
Zrsr2-ps1	A	G	11: 22,923,388 (GRCm39)	E54G	probably benign	Het
Zscan10	G	A	17: 23,828,456 (GRCm39)	D333N	probably benign	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
R7767:Gls2	UTSW	10	128,030,998 (GRCm39)	missense	unknown
R8068:Gls2	UTSW	10	128,030,983 (GRCm39)	missense	unknown
R8084:Gls2	UTSW	10	128,035,125 (GRCm39)	missense	probably damaging	1.00
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'- ATTGGCAACCTCTCGCACTG -3'
(R):5'- TTTAGCCCAGGCAGCCATTAC -3'

Sequencing Primer
(F):5'- CACTGGGGTGGAAGTTAGGATCAC -3'
(R):5'- AGGCAGCCATTACCCCTCTG -3'

Posted On

2019-06-26