Incidental Mutation 'R5305:Gls2'
ID 404514
Institutional Source Beutler Lab
Gene Symbol Gls2
Ensembl Gene ENSMUSG00000044005
Gene Name glutaminase 2 (liver, mitochondrial)
Synonyms Lga, A330074B06Rik
MMRRC Submission 042888-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5305 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128030504-128045873 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 128040578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 326 (Y326*)
Ref Sequence ENSEMBL: ENSMUSP00000047376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044776] [ENSMUST00000143827] [ENSMUST00000159440]
AlphaFold Q571F8
Predicted Effect probably null
Transcript: ENSMUST00000044776
AA Change: Y326*
SMART Domains Protein: ENSMUSP00000047376
Gene: ENSMUSG00000044005
AA Change: Y326*

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 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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (67/68)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik G A 15: 81,943,420 (GRCm39) V11M possibly damaging Het
Acot8 A G 2: 164,637,685 (GRCm39) V179A probably benign Het
Actb A G 5: 142,889,985 (GRCm39) I194T probably benign Het
Ap1g2 A G 14: 55,336,533 (GRCm39) V787A probably benign Het
Areg G T 5: 91,292,308 (GRCm39) A203S probably damaging Het
Asb13 A T 13: 3,693,479 (GRCm39) D79V probably damaging Het
Atad2b C T 12: 5,015,855 (GRCm39) T527I probably damaging Het
Auts2 T G 5: 131,472,632 (GRCm39) probably benign Het
Ceacam3 T A 7: 16,885,501 (GRCm39) S35T probably damaging Het
Crebzf T C 7: 90,093,342 (GRCm39) probably benign Het
Cttnbp2 G T 6: 18,381,097 (GRCm39) N1366K probably benign Het
Cubn C A 2: 13,393,750 (GRCm39) C1417F probably damaging Het
Dot1l C T 10: 80,626,627 (GRCm39) P162S probably benign Het
Epc1 G A 18: 6,490,690 (GRCm39) probably benign Het
Eps8l1 A G 7: 4,480,895 (GRCm39) S613G possibly damaging Het
Erich6 T G 3: 58,532,537 (GRCm39) I357L probably benign Het
Foxj3 T A 4: 119,477,155 (GRCm39) S288T possibly damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm7535 T C 17: 18,132,061 (GRCm39) probably benign Het
Gxylt2 T G 6: 100,764,179 (GRCm39) L288R probably damaging Het
Kdm4a T C 4: 118,017,698 (GRCm39) Y456C probably damaging Het
Mgat4c T A 10: 102,225,140 (GRCm39) F451L possibly damaging Het
Mrpl20 G A 4: 155,888,162 (GRCm39) R17H probably damaging Het
Mtf2 A G 5: 108,252,365 (GRCm39) T465A possibly damaging Het
Mycbp2 A C 14: 103,583,757 (GRCm39) L66R probably benign Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Nr2e1 A T 10: 42,447,483 (GRCm39) Y176* probably null Het
Obscn T C 11: 58,903,541 (GRCm39) T7628A possibly damaging Het
Or7a37 A T 10: 78,806,390 (GRCm39) K302N possibly damaging Het
Pitx2 T G 3: 129,009,489 (GRCm39) V129G probably damaging Het
Polr2e A G 10: 79,873,897 (GRCm39) probably benign Het
Ppard A G 17: 28,517,832 (GRCm39) D300G probably damaging Het
Ppp1r27 A G 11: 120,441,743 (GRCm39) V46A probably benign Het
Prex2 T A 1: 11,177,902 (GRCm39) V332E probably damaging Het
Prss30 T G 17: 24,191,750 (GRCm39) Y257S probably benign Het
Ptprd T C 4: 75,900,863 (GRCm39) E1082G probably damaging Het
Rab3c T A 13: 110,317,611 (GRCm39) R89S probably damaging Het
Rimbp2 A G 5: 128,874,445 (GRCm39) V389A possibly damaging Het
Rims1 T A 1: 22,635,623 (GRCm39) R119S probably damaging Het
Sema3b T C 9: 107,480,536 (GRCm39) H137R probably null Het
Sf3b4 G C 3: 96,080,958 (GRCm39) A89P probably damaging Het
Sgta T A 10: 80,882,081 (GRCm39) Q298L probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Spag9 C A 11: 93,959,838 (GRCm39) D342E probably damaging Het
Sry T A Y: 2,662,982 (GRCm39) D226V unknown Het
Sv2a A G 3: 96,092,774 (GRCm39) E158G possibly damaging Het
Sytl2 A G 7: 90,031,071 (GRCm39) probably benign Het
Thbs3 T A 3: 89,125,283 (GRCm39) probably benign Het
Top3a A T 11: 60,653,365 (GRCm39) N56K possibly damaging Het
Tyk2 T C 9: 21,020,677 (GRCm39) D918G probably damaging Het
Uqcrh A G 4: 115,924,481 (GRCm39) probably benign Het
Vmn1r61 A G 7: 5,613,814 (GRCm39) S167P probably damaging Het
Wdr25 C A 12: 108,992,366 (GRCm39) H74N probably damaging Het
Zfp458 T C 13: 67,404,382 (GRCm39) N686D probably benign Het
Zfp574 T A 7: 24,780,515 (GRCm39) H512Q Het
Zfp976 A T 7: 42,262,902 (GRCm39) Y312N probably benign Het
Zscan4c G A 7: 10,743,462 (GRCm39) V354I 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
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
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
Predicted Primers PCR Primer
(F):5'- TTCAGGTTCTGAAGTTCCCAC -3'
(R):5'- GAGATCAAGGGCAGCCATCATG -3'

Sequencing Primer
(F):5'- GAAGTTCCCACTAATGCTCTGTGAG -3'
(R):5'- AGGGCAGCCATCATGTCCAC -3'
Posted On 2016-07-22