Incidental Mutation 'R0378:Gls2'
ID 36479
Institutional Source Beutler Lab
Gene Symbol Gls2
Ensembl Gene ENSMUSG00000044005
Gene Name glutaminase 2 (liver, mitochondrial)
Synonyms Lga, A330074B06Rik
MMRRC Submission 038584-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0378 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128030504-128045873 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 128043180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 457 (L457R)
Ref Sequence ENSEMBL: ENSMUSP00000047376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044776] [ENSMUST00000061995] [ENSMUST00000143827] [ENSMUST00000159440]
AlphaFold Q571F8
Predicted Effect probably benign
Transcript: ENSMUST00000044776
AA Change: L457R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047376
Gene: ENSMUSG00000044005
AA Change: L457R

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

Blast:PRY 29 84 2e-26 BLAST
Pfam:SPRY 87 199 1.2e-10 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000132441
AA Change: L30R
SMART Domains Protein: ENSMUSP00000115788
Gene: ENSMUSG00000044005
AA Change: L30R

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

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 noncoding transcript
Transcript: ENSMUST00000145591
Predicted Effect probably benign
Transcript: ENSMUST00000143827
SMART Domains Protein: ENSMUSP00000119763
Gene: ENSMUSG00000044005

PDB:4JKT|D 67 135 5e-25 PDB
low complexity region 170 186 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159440
SMART Domains Protein: ENSMUSP00000124239
Gene: ENSMUSG00000044005

PDB:4JKT|D 67 134 9e-25 PDB
Meta Mutation Damage Score 0.0669 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 95% (40/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 114,469,749 (GRCm39) R651L probably damaging Het
Amd1 T C 10: 40,165,380 (GRCm39) D317G possibly damaging Het
Artn A G 4: 117,784,815 (GRCm39) probably benign Het
Bub1b T A 2: 118,471,604 (GRCm39) V988E probably benign Het
Cyp2c65 G T 19: 39,061,662 (GRCm39) C216F probably benign Het
Cyp3a11 T C 5: 145,805,417 (GRCm39) E200G probably benign Het
Cyp3a25 T A 5: 145,923,652 (GRCm39) K330N probably damaging Het
Duox2 C A 2: 122,115,064 (GRCm39) V1138L probably benign Het
Erc2 A G 14: 27,733,651 (GRCm39) D567G probably damaging Het
Eri2 A G 7: 119,393,139 (GRCm39) probably null Het
Foxa3 A G 7: 18,757,294 (GRCm39) Y17H probably damaging Het
Fto T C 8: 92,200,940 (GRCm39) S324P probably damaging Het
Get3 A T 8: 85,751,893 (GRCm39) M1K probably null Het
Gstcd A T 3: 132,692,169 (GRCm39) L582H probably damaging Het
Gtf3c1 G A 7: 125,246,786 (GRCm39) R1508* probably null Het
Kif21a T C 15: 90,853,977 (GRCm39) probably null Het
Klra5 A T 6: 129,883,577 (GRCm39) D93E possibly damaging Het
Lgr5 T C 10: 115,290,404 (GRCm39) D456G probably damaging Het
Mau2 A G 8: 70,483,305 (GRCm39) S186P probably damaging Het
Msr1 T C 8: 40,042,423 (GRCm39) D384G possibly damaging Het
Ncf4 T C 15: 78,137,503 (GRCm39) V93A probably damaging Het
Oas1f T G 5: 120,994,489 (GRCm39) C337G probably damaging Het
Or10al3 A G 17: 38,011,932 (GRCm39) M124V probably damaging Het
Or5p58 A T 7: 107,694,429 (GRCm39) F116Y probably benign Het
Or6c33 T A 10: 129,853,872 (GRCm39) L214H probably damaging Het
Pwwp3a C A 10: 80,074,713 (GRCm39) probably null Het
Rasl10b T C 11: 83,309,519 (GRCm39) S159P probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Smg8 C A 11: 86,971,249 (GRCm39) D841Y probably damaging Het
Sox7 T C 14: 64,181,398 (GRCm39) V65A probably damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Srsf10 A G 4: 135,590,501 (GRCm39) Y142C possibly damaging Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tcerg1l A G 7: 137,878,384 (GRCm39) V326A probably benign Het
Tcl1b5 T A 12: 105,145,326 (GRCm39) W97R probably damaging Het
Tmem108 T C 9: 103,376,856 (GRCm39) R198G possibly damaging Het
Ube2ql1 T A 13: 69,887,017 (GRCm39) Q148L possibly damaging Het
Vmn1r5 A T 6: 56,962,570 (GRCm39) I82L probably benign Het
Wdr6 A T 9: 108,453,063 (GRCm39) S273R probably damaging Het
Ylpm1 C T 12: 85,043,850 (GRCm39) probably benign Het
Zfp90 G A 8: 107,152,138 (GRCm39) R617Q possibly damaging Het
Other mutations in Gls2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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

Sequencing Primer
(F):5'- tcaggaggcagaggcag -3'
Posted On 2013-05-09