Incidental Mutation 'IGL01444:Gls2'
ID 84366
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 # IGL01444
Quality Score
Status
Chromosome 10
Chromosomal Location 128030504-128045873 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 128037216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 252 (N252K)
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: N252K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047376
Gene: ENSMUSG00000044005
AA Change: N252K

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: ENSMUST00000123291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123385
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 noncoding transcript
Transcript: ENSMUST00000152928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145591
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 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,146,183 (GRCm39) N517I probably damaging Het
Adam25 G A 8: 41,207,958 (GRCm39) R408H probably benign Het
Adam34l A T 8: 44,079,470 (GRCm39) D251E probably benign Het
Ang C A 14: 51,339,124 (GRCm39) Y88* probably null Het
Ankrd42 T C 7: 92,259,793 (GRCm39) T327A probably damaging Het
Birc6 A G 17: 74,938,682 (GRCm39) D2696G probably damaging Het
Chd3 G A 11: 69,239,568 (GRCm39) T1717M probably benign Het
Csmd1 T A 8: 16,250,069 (GRCm39) M970L probably benign Het
Dhx32 T C 7: 133,350,706 (GRCm39) I121M possibly damaging Het
Dnah11 G A 12: 117,983,967 (GRCm39) S2506F possibly damaging Het
Dscam T A 16: 96,474,909 (GRCm39) I1218F possibly damaging Het
Duox1 T C 2: 122,170,571 (GRCm39) L1197P probably damaging Het
Eps8l2 T C 7: 140,941,288 (GRCm39) probably benign Het
Exoc3 T C 13: 74,355,054 (GRCm39) K49R probably damaging Het
Exoc8 T A 8: 125,622,580 (GRCm39) T596S possibly damaging Het
F13a1 C T 13: 37,102,551 (GRCm39) G391R probably null Het
Fat3 A T 9: 15,910,144 (GRCm39) S1953T probably damaging Het
Haus2 G A 2: 120,446,423 (GRCm39) R115K probably benign Het
Ift122 A G 6: 115,861,340 (GRCm39) K262E probably benign Het
Islr2 C T 9: 58,105,661 (GRCm39) C533Y probably damaging Het
Lrp2 A T 2: 69,274,060 (GRCm39) F3997I possibly damaging Het
Nt5c1a C T 4: 123,109,962 (GRCm39) R354W probably damaging Het
Or6c206 T A 10: 129,097,204 (GRCm39) C125S probably damaging Het
Pcolce A T 5: 137,605,738 (GRCm39) S200R probably damaging Het
Plec A G 15: 76,063,497 (GRCm39) V2213A possibly damaging Het
Prmt3 T A 7: 49,430,120 (GRCm39) D74E probably benign Het
Ptk7 A G 17: 46,876,313 (GRCm39) F1046S probably damaging Het
Ranbp2 T C 10: 58,311,122 (GRCm39) Y887H possibly damaging Het
Sanbr T G 11: 23,570,225 (GRCm39) probably benign Het
Sez6l2 G A 7: 126,561,055 (GRCm39) E447K possibly damaging Het
Shld2 C A 14: 33,959,514 (GRCm39) V823F probably damaging Het
Snrnp70 C T 7: 45,036,660 (GRCm39) probably null Het
Timm10 T A 2: 84,660,208 (GRCm39) V49E probably damaging Het
Tox2 T C 2: 163,067,386 (GRCm39) probably benign Het
Usp20 T A 2: 30,888,801 (GRCm39) M1K probably null Het
Usp32 A C 11: 84,949,990 (GRCm39) L223V probably damaging Het
Zeb1 G T 18: 5,767,906 (GRCm39) A806S probably damaging Het
Zeb1 T C 18: 5,767,138 (GRCm39) S550P probably benign 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
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 2013-11-11