Incidental Mutation 'IGL02746:Gls2'
ID 306034
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 # IGL02746
Quality Score
Status
Chromosome 10
Chromosomal Location 128030504-128045873 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128036825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 202 (D202G)
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: D202G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047376
Gene: ENSMUSG00000044005
AA Change: D202G

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 probably benign
Transcript: ENSMUST00000143827
AA Change: M159V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000119763
Gene: ENSMUSG00000044005
AA Change: M159V

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 noncoding transcript
Transcript: ENSMUST00000152928
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
A2m G A 6: 121,646,462 (GRCm39) probably benign Het
Adck5 A T 15: 76,473,354 (GRCm39) M68L probably benign Het
Aox3 T C 1: 58,222,701 (GRCm39) S1165P possibly damaging Het
Arhgap23 A G 11: 97,345,030 (GRCm39) probably benign Het
Brdt T C 5: 107,518,190 (GRCm39) L771P probably benign Het
Ccdc134 T A 15: 82,015,938 (GRCm39) probably benign Het
Cdc42bpa T A 1: 179,939,312 (GRCm39) D41E possibly damaging Het
Cdkn2aipnl A G 11: 51,861,047 (GRCm39) T106A probably damaging Het
Cox10 G A 11: 63,855,357 (GRCm39) probably benign Het
Cubn C A 2: 13,449,851 (GRCm39) C891F probably damaging Het
Cyb5rl A G 4: 106,925,836 (GRCm39) E6G probably benign Het
Dhrs2 T C 14: 55,478,628 (GRCm39) S258P probably damaging Het
Dnah10 T C 5: 124,807,150 (GRCm39) L145P possibly damaging Het
Epc1 A G 18: 6,454,317 (GRCm39) I129T probably benign Het
Gkn3 A G 6: 87,364,339 (GRCm39) probably benign Het
Gm45844 A G 7: 7,243,178 (GRCm39) F24S probably damaging Het
Golph3 C T 15: 12,349,501 (GRCm39) R174W probably damaging Het
Gpatch4 A C 3: 87,961,698 (GRCm39) E119A possibly damaging Het
Hemgn A G 4: 46,400,740 (GRCm39) L40P probably damaging Het
Ifi27l2b A T 12: 103,417,493 (GRCm39) D231E unknown Het
Klf12 T C 14: 100,137,656 (GRCm39) I297V probably benign Het
Lzts3 T C 2: 130,478,261 (GRCm39) N165S probably damaging Het
Nlrp4e G A 7: 23,021,264 (GRCm39) V584I probably benign Het
Npas4 T C 19: 5,036,695 (GRCm39) T490A probably damaging Het
Pikfyve C A 1: 65,273,431 (GRCm39) H615Q probably damaging Het
Plce1 T A 19: 38,686,916 (GRCm39) L608Q probably damaging Het
Pou2f3 T G 9: 43,058,143 (GRCm39) Q67H probably benign Het
Rev3l T C 10: 39,700,585 (GRCm39) L1694P probably damaging Het
Rpl4 A G 9: 64,082,932 (GRCm39) T117A probably benign Het
Scn5a T C 9: 119,379,703 (GRCm39) N194D probably damaging Het
Sec16b T A 1: 157,373,859 (GRCm39) probably benign Het
Slc12a5 A T 2: 164,816,836 (GRCm39) M97L probably benign Het
Stard13 A G 5: 150,970,322 (GRCm39) probably benign Het
Stau1 A C 2: 166,796,818 (GRCm39) probably null Het
Thg1l A T 11: 45,839,054 (GRCm39) C219* probably null Het
Togaram1 G T 12: 65,013,270 (GRCm39) E174* probably null Het
Vmn1r237 T C 17: 21,534,480 (GRCm39) S68P possibly damaging Het
Vmn2r3 A T 3: 64,167,239 (GRCm39) S631T 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
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 2015-04-16