Incidental Mutation 'R5767:Gls2'
ID 446339
Institutional Source Beutler Lab
Gene Symbol Gls2
Ensembl Gene ENSMUSG00000044005
Gene Name glutaminase 2 (liver, mitochondrial)
Synonyms Lga, A330074B06Rik
MMRRC Submission 043367-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5767 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128030504-128045873 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128041090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 394 (H394R)
Ref Sequence ENSEMBL: ENSMUSP00000047376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044776] [ENSMUST00000061995] [ENSMUST00000143827] [ENSMUST00000159440]
AlphaFold Q571F8
Predicted Effect probably damaging
Transcript: ENSMUST00000044776
AA Change: H394R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047376
Gene: ENSMUSG00000044005
AA Change: H394R

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 probably benign
Transcript: ENSMUST00000132441
SMART Domains Protein: ENSMUSP00000115788
Gene: ENSMUSG00000044005

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 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 noncoding transcript
Transcript: ENSMUST00000145591
Predicted Effect probably benign
Transcript: ENSMUST00000159440
SMART Domains Protein: ENSMUSP00000124239
Gene: ENSMUSG00000044005

PDB:4JKT|D 67 134 9e-25 PDB
Meta Mutation Damage Score 0.7095 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (52/53)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 A T 10: 89,562,617 (GRCm39) D87E probably damaging Het
AI429214 TCCCTGATGAAC TC 8: 37,461,383 (GRCm39) probably null Het
Ano3 A T 2: 110,491,616 (GRCm39) Y887N probably damaging Het
Arid4a A G 12: 71,106,867 (GRCm39) D313G probably damaging Het
Armc2 A G 10: 41,887,923 (GRCm39) V20A probably benign Het
Bltp3b A G 10: 89,623,061 (GRCm39) D312G possibly damaging Het
C2 T A 17: 35,095,432 (GRCm39) N171I possibly damaging Het
Cdh1 C A 8: 107,395,187 (GRCm39) N865K probably damaging Het
Cep89 T A 7: 35,117,070 (GRCm39) V224E probably damaging Het
Cfap251 G A 5: 123,436,584 (GRCm39) V1038I probably benign Het
Dennd2d C T 3: 106,395,131 (GRCm39) probably benign Het
Diaph1 T A 18: 37,986,408 (GRCm39) K1157N probably damaging Het
Dsg4 T A 18: 20,595,549 (GRCm39) L584* probably null Het
Exoc4 G A 6: 33,895,367 (GRCm39) A795T probably benign Het
Fbln5 A T 12: 101,731,468 (GRCm39) I242N probably damaging Het
Gm27013 C T 6: 130,652,921 (GRCm39) C847Y possibly damaging Het
Ifna5 C A 4: 88,754,036 (GRCm39) T92K possibly damaging Het
Ireb2 A G 9: 54,807,800 (GRCm39) M674V probably benign Het
Itga2 C T 13: 114,976,106 (GRCm39) V1089M possibly damaging Het
Kctd16 A T 18: 40,391,922 (GRCm39) Y170F probably benign Het
Kif15 A G 9: 122,843,039 (GRCm39) N45D possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Mink1 A G 11: 70,496,901 (GRCm39) K420E possibly damaging Het
Ms4a14 G T 19: 11,279,391 (GRCm39) Q1056K probably benign Het
Or11g1 T C 14: 50,651,235 (GRCm39) V78A possibly damaging Het
Or5k8 T C 16: 58,644,316 (GRCm39) Y252C probably benign Het
Or8k21 T A 2: 86,144,742 (GRCm39) E296V probably damaging Het
Ovch2 T C 7: 107,381,185 (GRCm39) E571G probably benign Het
Pmel T C 10: 128,550,250 (GRCm39) V95A probably damaging Het
Ptger2 G T 14: 45,226,599 (GRCm39) G60C probably benign Het
Ranbp2 T G 10: 58,312,647 (GRCm39) S1122R probably benign Het
Rasal2 T C 1: 157,003,732 (GRCm39) D309G probably damaging Het
Rcc2 T A 4: 140,443,230 (GRCm39) C303S probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serpini1 C T 3: 75,520,388 (GRCm39) probably benign Het
Sgo2a G T 1: 58,058,819 (GRCm39) E1133* probably null Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Smarcc1 G A 9: 109,961,251 (GRCm39) probably benign Het
Tbcd A G 11: 121,483,518 (GRCm39) E749G probably benign Het
Tmc3 G A 7: 83,249,190 (GRCm39) A260T probably benign Het
Tnfrsf21 A G 17: 43,348,550 (GRCm39) Y54C probably damaging Het
Urb1 T A 16: 90,573,051 (GRCm39) M994L probably benign Het
Usp14 A T 18: 10,009,935 (GRCm39) probably benign Het
Vps13a T C 19: 16,641,928 (GRCm39) Y2233C probably damaging Het
Wnt2 G T 6: 17,990,027 (GRCm39) A290E probably damaging Het
Zc3h8 A T 2: 128,772,812 (GRCm39) C225* probably null 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
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
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
Posted On 2016-11-21