Incidental Mutation 'R5435:Gls2'
ID 428277
Institutional Source Beutler Lab
Gene Symbol Gls2
Ensembl Gene ENSMUSG00000044005
Gene Name glutaminase 2 (liver, mitochondrial)
Synonyms Lga, A330074B06Rik
MMRRC Submission 043000-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5435 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128030504-128045873 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 128030995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124239 (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 unknown
Transcript: ENSMUST00000123291
AA Change: V85I
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 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: ENSMUST00000152928
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: ENSMUST00000217808
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (74/74)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,383,413 (GRCm39) F851L probably benign Het
Abca17 C T 17: 24,486,588 (GRCm39) V1480I possibly damaging Het
Acsbg1 G T 9: 54,523,153 (GRCm39) Y491* probably null Het
Acsf3 T A 8: 123,507,020 (GRCm39) N104K probably damaging Het
Adam23 T C 1: 63,585,612 (GRCm39) Y400H possibly damaging Het
Adgra3 G A 5: 50,147,468 (GRCm39) T524M probably damaging Het
Aff1 G A 5: 103,902,198 (GRCm39) probably benign Het
Anxa9 T C 3: 95,204,561 (GRCm39) Y321C probably damaging Het
Ap1g1 T A 8: 110,565,552 (GRCm39) Y329N probably damaging Het
Aph1c A T 9: 66,741,783 (GRCm39) I33N possibly damaging Het
B3galnt2 A G 13: 14,171,575 (GRCm39) E491G probably benign Het
Bdh1 C T 16: 31,275,475 (GRCm39) R235C probably damaging Het
Ccar2 A G 14: 70,376,776 (GRCm39) L856P probably damaging Het
Ccdc107 A T 4: 43,493,519 (GRCm39) D30V probably damaging Het
Ccdc116 G T 16: 16,960,626 (GRCm39) H64N probably benign Het
Ccl12 T C 11: 81,994,001 (GRCm39) I86T possibly damaging Het
Col2a1 T C 15: 97,898,391 (GRCm39) probably benign Het
Col4a4 T A 1: 82,431,728 (GRCm39) I1519F unknown Het
Ddx19b T C 8: 111,735,458 (GRCm39) Q416R possibly damaging Het
Dnah6 T A 6: 73,037,121 (GRCm39) M3374L probably benign Het
Dnajc6 A T 4: 101,463,807 (GRCm39) I119F probably damaging Het
Ensa C A 3: 95,529,769 (GRCm39) probably benign Het
Fbxo4 C T 15: 3,995,274 (GRCm39) V357I possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Foxf1 G A 8: 121,811,231 (GRCm39) G32S probably damaging Het
Gm13599 T A 2: 67,226,496 (GRCm39) noncoding transcript Het
Gmnn A G 13: 24,936,084 (GRCm39) S197P probably benign Het
Guf1 A T 5: 69,720,512 (GRCm39) H324L probably benign Het
H2-Q6 A G 17: 35,644,661 (GRCm39) D150G probably damaging Het
Herc3 T A 6: 58,832,791 (GRCm39) L152Q probably damaging Het
Hnrnpul2 T G 19: 8,797,682 (GRCm39) S13A probably benign Het
Ighv5-4 A G 12: 113,561,283 (GRCm39) F46L probably benign Het
Kank1 T G 19: 25,388,507 (GRCm39) S727A probably benign Het
Kcnma1 A T 14: 23,578,472 (GRCm39) Y201* probably null Het
Lyst A T 13: 13,951,649 (GRCm39) H3750L possibly damaging Het
Mettl25 A G 10: 105,615,447 (GRCm39) probably null Het
Mpdz A G 4: 81,201,724 (GRCm39) probably benign Het
Myh9 C T 15: 77,653,809 (GRCm39) V1280I probably benign Het
Neto1 A T 18: 86,416,388 (GRCm39) T32S probably benign Het
Nol7 C A 13: 43,554,848 (GRCm39) H187Q possibly damaging Het
Or5ak22 T A 2: 85,230,814 (GRCm39) N21I probably benign Het
Pcdha8 A G 18: 37,126,652 (GRCm39) D378G probably damaging Het
Peak1 A G 9: 56,113,770 (GRCm39) S694P probably damaging Het
Pih1d1 T A 7: 44,805,696 (GRCm39) probably null Het
Pik3c2g T G 6: 139,661,581 (GRCm39) probably null Het
Prkar2a A G 9: 108,617,682 (GRCm39) R247G probably damaging Het
Psg26 A G 7: 18,212,398 (GRCm39) I319T possibly damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rasa3 T C 8: 13,681,811 (GRCm39) E46G possibly damaging Het
Rbbp5 T A 1: 132,422,013 (GRCm39) H304Q probably damaging Het
Relch T A 1: 105,668,975 (GRCm39) probably benign Het
Scn1a T A 2: 66,103,878 (GRCm39) E1783V probably damaging Het
Stag1 A G 9: 100,835,603 (GRCm39) N151S probably benign Het
Tbc1d32 C A 10: 55,916,246 (GRCm39) A1191S probably damaging Het
Tchh C A 3: 93,350,979 (GRCm39) R140S possibly damaging Het
Trank1 A G 9: 111,220,958 (GRCm39) Y2565C probably benign Het
Ttn A T 2: 76,744,702 (GRCm39) V5449D probably damaging Het
Tubgcp2 G A 7: 139,575,985 (GRCm39) P893S possibly damaging Het
Wdfy4 A G 14: 32,742,268 (GRCm39) F2325S probably damaging Het
Wdr35 A G 12: 9,039,951 (GRCm39) D352G probably benign Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Ypel3 A G 7: 126,374,960 (GRCm39) probably benign Het
Zan T A 5: 137,402,024 (GRCm39) T4023S unknown Het
Zfp735 T A 11: 73,602,939 (GRCm39) C628S 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
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-09-01