Incidental Mutation 'IGL00088:Gls2'
ID 1213
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gls2
Ensembl Gene ENSMUSG00000044005
Gene Name glutaminase 2 (liver, mitochondrial)
Synonyms Lga, A330074B06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00088
Quality Score
Chromosome 10
Chromosomal Location 128030504-128045873 bp(+) (GRCm39)
Type of Mutation splice site (1691 bp from exon)
DNA Base Change (assembly) A to G at 128036840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044776] [ENSMUST00000123291] [ENSMUST00000143827] [ENSMUST00000159440]
AlphaFold Q571F8
Predicted Effect probably benign
Transcript: ENSMUST00000044776
SMART Domains Protein: ENSMUSP00000047376
Gene: ENSMUSG00000044005

Pfam:Glutaminase 177 463 1.1e-116 PFAM
ANK 518 548 3.76e-5 SMART
ANK 552 581 1.21e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000123291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123385
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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145591
Coding Region Coverage
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 A G 18: 36,798,512 (GRCm39) probably benign Het
Anpep A G 7: 79,475,484 (GRCm39) V879A possibly damaging Het
Asb13 T G 13: 3,693,476 (GRCm39) V78G probably null Het
Atad2b A G 12: 5,074,593 (GRCm39) R1051G probably damaging Het
Bdp1 T C 13: 100,235,018 (GRCm39) Y192C probably damaging Het
C1ql2 G T 1: 120,269,399 (GRCm39) G185C probably damaging Het
Catsperg2 A G 7: 29,404,829 (GRCm39) S745P possibly damaging Het
Col19a1 A T 1: 24,600,387 (GRCm39) S52T unknown Het
Col4a2 G T 8: 11,493,685 (GRCm39) G1418V probably damaging Het
Crnkl1 C T 2: 145,760,388 (GRCm39) D677N possibly damaging Het
Cyp2j8 T A 4: 96,392,079 (GRCm39) N125I probably benign Het
Cyp2t4 A T 7: 26,854,723 (GRCm39) M68L probably benign Het
Dclk2 T A 3: 86,706,397 (GRCm39) probably null Het
Dmxl2 T C 9: 54,308,988 (GRCm39) D1921G probably benign Het
Dnah10 G A 5: 124,905,667 (GRCm39) G4104S probably damaging Het
Echdc2 T C 4: 108,036,108 (GRCm39) I273T probably damaging Het
Extl1 T C 4: 134,085,330 (GRCm39) K596E probably damaging Het
Fads3 A T 19: 10,029,663 (GRCm39) D108V probably null Het
Fam135b A G 15: 71,322,343 (GRCm39) L1274P probably damaging Het
Fat1 T A 8: 45,477,639 (GRCm39) H2228Q possibly damaging Het
Gcc2 C T 10: 58,128,502 (GRCm39) H1341Y probably damaging Het
Gpr137 A C 19: 6,917,072 (GRCm39) V139G probably damaging Het
Ikbke A G 1: 131,197,749 (GRCm39) probably null Het
Irak2 A T 6: 113,655,636 (GRCm39) N285Y probably benign Het
Kcnu1 G A 8: 26,387,884 (GRCm39) C566Y probably benign Het
Klhl29 G A 12: 5,190,705 (GRCm39) P97S probably benign Het
Lama4 T C 10: 38,941,591 (GRCm39) probably benign Het
Lhx6 G A 2: 35,981,728 (GRCm39) probably benign Het
Mdn1 T C 4: 32,723,651 (GRCm39) L2529P probably damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Naa15 T A 3: 51,345,826 (GRCm39) V19D probably damaging Het
Ncbp3 A T 11: 72,964,355 (GRCm39) probably benign Het
Nckipsd G A 9: 108,692,168 (GRCm39) V530I probably benign Het
Neb A G 2: 52,198,759 (GRCm39) I394T possibly damaging Het
Nnmt A T 9: 48,503,224 (GRCm39) probably benign Het
Nup58 T A 14: 60,480,026 (GRCm39) I207L probably benign Het
Or14j2 A T 17: 37,885,808 (GRCm39) C169S probably damaging Het
Or5ae1 T A 7: 84,565,578 (GRCm39) M197K probably damaging Het
Or5k16 C T 16: 58,736,213 (GRCm39) E264K probably benign Het
Otud4 T A 8: 80,399,510 (GRCm39) N741K probably damaging Het
Pard6a T A 8: 106,429,833 (GRCm39) C264S probably benign Het
Plch2 T C 4: 155,091,099 (GRCm39) N276S probably damaging Het
Pramel31 T A 4: 144,089,100 (GRCm39) H139Q possibly damaging Het
Pramel32 T A 4: 88,547,307 (GRCm39) K121N probably benign Het
Racgap1 T C 15: 99,534,003 (GRCm39) probably benign Het
Rad51d T C 11: 82,780,572 (GRCm39) D70G probably damaging Het
Recql4 C T 15: 76,591,536 (GRCm39) A484T possibly damaging Het
Reg3g A T 6: 78,443,762 (GRCm39) S149T probably benign Het
Rpl13a C A 7: 44,776,495 (GRCm39) probably null Het
Scn10a T C 9: 119,501,292 (GRCm39) Y164C probably damaging Het
Scn2a A G 2: 65,594,784 (GRCm39) I1878V probably benign Het
Sgcg T A 14: 61,477,796 (GRCm39) R98* probably null Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Tas2r140 A T 6: 40,468,274 (GRCm39) I35F probably benign Het
Tex19.2 A G 11: 121,007,638 (GRCm39) F270S possibly damaging Het
Traip C T 9: 107,847,749 (GRCm39) R391W probably benign Het
Trim7 A G 11: 48,736,398 (GRCm39) N251D probably damaging Het
Trmt2a T A 16: 18,067,351 (GRCm39) V8D probably benign Het
Tut7 T C 13: 59,964,512 (GRCm39) E221G probably damaging Het
Ubr3 A C 2: 69,819,154 (GRCm39) I9L probably benign Het
Usp42 A G 5: 143,702,897 (GRCm39) S575P probably benign Het
Vmn2r52 G T 7: 9,903,023 (GRCm39) H468Q probably benign Het
Vmn2r59 T A 7: 41,661,488 (GRCm39) T776S possibly damaging Het
Other mutations in Gls2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2011-07-12