Incidental Mutation 'IGL00583:Gls2'
ID 4644
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
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00583
Quality Score
Status
Chromosome 10
Chromosomal Location 128194457-128210004 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128204882 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 340 (M340V)
Ref Sequence ENSEMBL: ENSMUSP00000047376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044776] [ENSMUST00000143827] [ENSMUST00000159440]
AlphaFold Q571F8
Predicted Effect probably benign
Transcript: ENSMUST00000044776
AA Change: M340V

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000047376
Gene: ENSMUSG00000044005
AA Change: M340V

DomainStartEndE-ValueType
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: ENSMUST00000132441
SMART Domains Protein: ENSMUSP00000115788
Gene: ENSMUSG00000044005

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PDB:4JKT|D 67 135 5e-25 PDB
low complexity region 170 186 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145591
Predicted Effect probably benign
Transcript: ENSMUST00000159440
SMART Domains Protein: ENSMUSP00000124239
Gene: ENSMUSG00000044005

DomainStartEndE-ValueType
PDB:4JKT|D 67 134 9e-25 PDB
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 C T 13: 104,297,218 Q52* probably null Het
Ambp G T 4: 63,154,018 A13D possibly damaging Het
Angptl3 A G 4: 99,034,840 T283A probably damaging Het
Atp13a5 A T 16: 29,275,453 probably benign Het
Borcs8 A G 8: 70,145,107 H93R probably benign Het
Bzw1 T C 1: 58,401,335 probably benign Het
Cd200 A C 16: 45,397,109 I73R probably damaging Het
Coq8a T C 1: 180,168,389 D528G probably benign Het
Edem1 T A 6: 108,855,559 probably benign Het
Enpp5 C T 17: 44,085,197 probably benign Het
Eprs G T 1: 185,407,148 C910F probably benign Het
Erich6 T C 3: 58,637,043 E41G unknown Het
Gna12 A T 5: 140,761,018 V224E probably damaging Het
Golph3l T C 3: 95,589,103 L46P possibly damaging Het
Limch1 T C 5: 66,953,679 I83T probably damaging Het
Mas1 T C 17: 12,841,965 I190M possibly damaging Het
Mefv T A 16: 3,716,072 K112* probably null Het
Oas1e T A 5: 120,794,272 E102V probably damaging Het
Pde6a T C 18: 61,257,268 C521R probably damaging Het
Pigw A G 11: 84,877,888 V205A possibly damaging Het
Ptpn21 G A 12: 98,733,601 S18F probably damaging Het
Shprh C T 10: 11,188,020 T1279I probably benign Het
Slc11a2 T C 15: 100,397,737 E501G probably benign Het
Sult2a3 T A 7: 14,122,980 Y5F probably benign Het
Tll1 A G 8: 64,205,292 L31P probably benign Het
Tubgcp3 G A 8: 12,621,906 Q779* probably null Het
U2surp T A 9: 95,461,524 probably benign Het
Other mutations in Gls2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Gls2 APN 10 128200971 splice site probably null
IGL01444:Gls2 APN 10 128201347 missense probably damaging 1.00
IGL02746:Gls2 APN 10 128200956 missense probably damaging 1.00
R0015:Gls2 UTSW 10 128209350 missense probably damaging 1.00
R0024:Gls2 UTSW 10 128199256 missense probably damaging 1.00
R0378:Gls2 UTSW 10 128207311 missense probably benign
R1179:Gls2 UTSW 10 128199234 missense probably damaging 1.00
R1227:Gls2 UTSW 10 128199664 missense probably damaging 1.00
R1421:Gls2 UTSW 10 128201348 nonsense probably null
R1750:Gls2 UTSW 10 128201325 missense probably damaging 1.00
R1952:Gls2 UTSW 10 128209362 missense probably benign
R2218:Gls2 UTSW 10 128204714 missense probably damaging 1.00
R2291:Gls2 UTSW 10 128207610 nonsense probably null
R2382:Gls2 UTSW 10 128203842 missense probably damaging 1.00
R4536:Gls2 UTSW 10 128200937 missense probably benign 0.00
R5305:Gls2 UTSW 10 128204709 nonsense probably null
R5435:Gls2 UTSW 10 128195126 intron probably benign
R5767:Gls2 UTSW 10 128205221 missense probably damaging 1.00
R7223:Gls2 UTSW 10 128199194 missense probably benign
R7767:Gls2 UTSW 10 128195129 missense unknown
R8068:Gls2 UTSW 10 128195114 missense unknown
R8084:Gls2 UTSW 10 128199256 missense probably damaging 1.00
R8329:Gls2 UTSW 10 128201285 missense probably benign 0.00
R8872:Gls2 UTSW 10 128204666 missense probably benign 0.00
Posted On 2012-04-20