Incidental Mutation 'R1750:Gls2'
ID 193428
Institutional Source Beutler Lab
Gene Symbol Gls2
Ensembl Gene ENSMUSG00000044005
Gene Name glutaminase 2 (liver, mitochondrial)
Synonyms Lga, A330074B06Rik
MMRRC Submission 039782-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1750 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 128194457-128210004 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128201325 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 245 (E245G)
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: E245G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047376
Gene: ENSMUSG00000044005
AA Change: E245G

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

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 noncoding transcript
Transcript: ENSMUST00000152928
Predicted Effect probably benign
Transcript: ENSMUST00000159440
SMART Domains Protein: ENSMUSP00000124239
Gene: ENSMUSG00000044005

PDB:4JKT|D 67 134 9e-25 PDB
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 91.9%
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik G T 7: 131,146,130 (GRCm38) N44K probably benign Het
Acd C A 8: 105,698,892 (GRCm38) A270S possibly damaging Het
Acnat1 G A 4: 49,451,042 (GRCm38) T23I probably benign Het
Adam26a T G 8: 43,570,189 (GRCm38) E88A possibly damaging Het
Adgrb1 G A 15: 74,541,827 (GRCm38) V589M probably benign Het
Agbl2 T A 2: 90,816,376 (GRCm38) probably benign Het
Aif1 G A 17: 35,172,151 (GRCm38) P44L probably benign Het
Amh AGCGCCTTGG AG 10: 80,805,585 (GRCm38) probably null Het
Asap2 T C 12: 21,203,998 (GRCm38) L170P probably damaging Het
Btg2 T C 1: 134,079,031 (GRCm38) D8G probably benign Het
C530008M17Rik A G 5: 76,857,675 (GRCm38) I628V unknown Het
Cacna1g A T 11: 94,443,292 (GRCm38) V841E probably damaging Het
Cacna2d1 C T 5: 16,264,288 (GRCm38) P230L probably benign Het
Cacna2d2 A T 9: 107,524,644 (GRCm38) D766V probably damaging Het
Carns1 A G 19: 4,173,157 (GRCm38) W23R possibly damaging Het
Cdk11b T A 4: 155,628,680 (GRCm38) probably null Het
Chrna3 T C 9: 55,016,057 (GRCm38) S156G probably damaging Het
Cmya5 A T 13: 93,095,663 (GRCm38) N972K probably benign Het
Cpne7 C A 8: 123,134,524 (GRCm38) P541T probably damaging Het
Csmd1 A T 8: 15,917,303 (GRCm38) L3187I probably damaging Het
Dbt A G 3: 116,546,294 (GRCm38) I404V probably benign Het
Dgki A T 6: 36,916,434 (GRCm38) I819K probably damaging Het
Dip2b T A 15: 100,178,466 (GRCm38) S782T probably benign Het
Dlc1 A T 8: 36,858,090 (GRCm38) probably null Het
Dnajc13 A T 9: 104,221,477 (GRCm38) V459E probably damaging Het
Enam A G 5: 88,503,227 (GRCm38) E790G probably damaging Het
Epb41l4a G C 18: 33,828,208 (GRCm38) Y424* probably null Het
Extl1 A G 4: 134,362,688 (GRCm38) S370P probably benign Het
Fan1 T C 7: 64,373,013 (GRCm38) Y164C probably benign Het
Fbxw15 G A 9: 109,558,246 (GRCm38) S227F probably damaging Het
Fbxw25 A T 9: 109,650,073 (GRCm38) I370N probably benign Het
Fcgbp T A 7: 28,093,443 (GRCm38) Y957* probably null Het
Gkap1 C A 13: 58,237,043 (GRCm38) E77* probably null Het
Gkn1 A T 6: 87,349,123 (GRCm38) N28K unknown Het
Glyat G A 19: 12,646,315 (GRCm38) V32I probably benign Het
Gm2431 A T 7: 142,258,025 (GRCm38) C47* probably null Het
Gm5431 T C 11: 48,894,831 (GRCm38) D239G probably benign Het
Gm9573 T A 17: 35,621,048 (GRCm38) probably benign Het
Inpp5d T C 1: 87,699,081 (GRCm38) F540L probably damaging Het
Kcna1 A C 6: 126,642,808 (GRCm38) I183S probably benign Het
Kpna2 G T 11: 106,991,445 (GRCm38) L212I probably damaging Het
Krt36 C G 11: 100,104,058 (GRCm38) R229S probably benign Het
Krt78 G A 15: 101,946,377 (GRCm38) H1000Y probably benign Het
Krt90 A G 15: 101,553,365 (GRCm38) probably benign Het
Ldlrad4 C A 18: 68,106,687 (GRCm38) F59L probably benign Het
Lrrc3b T C 14: 15,358,601 (GRCm38) N2D probably benign Het
Madd T C 2: 91,167,891 (GRCm38) D239G probably damaging Het
Mapk8ip3 C T 17: 24,914,459 (GRCm38) G332S probably null Het
Mastl A T 2: 23,146,081 (GRCm38) L141* probably null Het
Mdh1b T C 1: 63,719,522 (GRCm38) N304D probably benign Het
Mfsd4b3 G T 10: 39,947,933 (GRCm38) N110K probably benign Het
Mtus2 T C 5: 148,277,633 (GRCm38) S1035P probably damaging Het
Myh11 T A 16: 14,200,758 (GRCm38) D1908V probably damaging Het
Myh11 T C 16: 14,215,790 (GRCm38) E1080G probably damaging Het
Mypn A C 10: 63,136,197 (GRCm38) M688R probably benign Het
Nat8l G T 5: 34,000,786 (GRCm38) C180F probably damaging Het
Nip7 T A 8: 107,057,386 (GRCm38) L86Q probably damaging Het
Nisch C T 14: 31,174,882 (GRCm38) probably benign Het
Nop2 A G 6: 125,137,638 (GRCm38) I283V probably benign Het
Oas1h T A 5: 120,871,777 (GRCm38) probably null Het
Olfr1118 T C 2: 87,308,852 (GRCm38) V41A probably benign Het
Olfr1141 T A 2: 87,753,186 (GRCm38) D269V probably damaging Het
Olfr117 A C 17: 37,659,673 (GRCm38) I220S probably damaging Het
Olfr1188 C A 2: 88,560,058 (GRCm38) D185E possibly damaging Het
Olfr1199 T C 2: 88,755,773 (GRCm38) R301G probably benign Het
Olfr504 A T 7: 108,565,357 (GRCm38) L146* probably null Het
Olfr901 T A 9: 38,430,690 (GRCm38) M136K probably damaging Het
P4hb A G 11: 120,562,720 (GRCm38) V373A probably damaging Het
Pappa2 C A 1: 158,763,150 (GRCm38) E1645* probably null Het
Pcdh10 G T 3: 45,381,881 (GRCm38) E877* probably null Het
Pcdhb17 C T 18: 37,485,711 (GRCm38) R185C probably damaging Het
Pcdhb17 A G 18: 37,487,017 (GRCm38) H620R possibly damaging Het
Pdcl3 T A 1: 38,995,865 (GRCm38) F168I probably damaging Het
Pde4a T A 9: 21,203,232 (GRCm38) I365N probably damaging Het
Pdzd2 A G 15: 12,385,864 (GRCm38) V940A probably damaging Het
Picalm T A 7: 90,191,182 (GRCm38) S399T possibly damaging Het
Pigk A T 3: 152,744,464 (GRCm38) I249F probably damaging Het
Plxnb1 C A 9: 109,111,768 (GRCm38) H1570Q probably benign Het
Plxnc1 A G 10: 94,799,497 (GRCm38) Y1321H probably damaging Het
Ppm1g G A 5: 31,206,216 (GRCm38) S114F probably damaging Het
Rassf4 A G 6: 116,640,267 (GRCm38) M259T probably damaging Het
Rbm47 T C 5: 66,019,310 (GRCm38) K557E possibly damaging Het
Rhobtb1 A G 10: 69,279,406 (GRCm38) K21R probably damaging Het
Selenoi T C 5: 30,257,773 (GRCm38) F212S probably benign Het
Shc3 T G 13: 51,449,292 (GRCm38) Y259S probably damaging Het
Slc11a2 T C 15: 100,401,287 (GRCm38) N134S probably damaging Het
Slc9a7 A T X: 20,162,478 (GRCm38) M368K probably damaging Het
Slx4ip T A 2: 137,046,749 (GRCm38) C117S probably damaging Het
Spata31d1d T A 13: 59,728,695 (GRCm38) Q342L probably benign Het
Spink13 T A 18: 62,607,749 (GRCm38) Y93F probably damaging Het
St6galnac5 A T 3: 152,846,321 (GRCm38) I203N possibly damaging Het
Syne2 T A 12: 76,052,805 (GRCm38) C5335S probably damaging Het
Tagap T A 17: 7,929,910 (GRCm38) D173E probably benign Het
Tekt3 A C 11: 63,070,041 (GRCm38) Y12S probably damaging Het
Tmem81 T A 1: 132,507,583 (GRCm38) N42K probably damaging Het
Tnc A G 4: 63,972,735 (GRCm38) W1728R probably damaging Het
Ttc30a1 C T 2: 75,980,255 (GRCm38) V495I probably benign Het
Ttc33 C T 15: 5,212,098 (GRCm38) R135* probably null Het
Ttc37 T A 13: 76,140,601 (GRCm38) L951Q possibly damaging Het
Unc5c A G 3: 141,827,517 (GRCm38) D842G possibly damaging Het
Usp43 A T 11: 67,879,953 (GRCm38) H618Q probably damaging Het
Vmn2r50 T G 7: 10,052,988 (GRCm38) N64T possibly damaging Het
Vmn2r53 T C 7: 12,581,705 (GRCm38) Y729C probably damaging Het
Vmn2r59 T A 7: 42,045,827 (GRCm38) H387L possibly damaging Het
Vstm2a G T 11: 16,263,166 (GRCm38) V184F possibly damaging Het
Wdr53 T G 16: 32,252,117 (GRCm38) N93K probably damaging Het
Wdr95 A G 5: 149,581,886 (GRCm38) probably null Het
Xpot A T 10: 121,603,027 (GRCm38) probably null Het
Xrcc5 C T 1: 72,325,087 (GRCm38) Q233* probably null Het
Zbtb18 T A 1: 177,447,511 (GRCm38) C137S possibly damaging Het
Zfp58 C A 13: 67,491,479 (GRCm38) G298* probably null Het
Zfp963 A G 8: 69,743,450 (GRCm38) S118P possibly damaging Het
Zmynd15 A T 11: 70,462,567 (GRCm38) Q336L probably benign Het
Other mutations in Gls2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Gls2 APN 10 128,200,971 (GRCm38) splice site probably null
IGL00583:Gls2 APN 10 128,204,882 (GRCm38) missense probably benign 0.11
IGL01444:Gls2 APN 10 128,201,347 (GRCm38) missense probably damaging 1.00
IGL02746:Gls2 APN 10 128,200,956 (GRCm38) missense probably damaging 1.00
R0015:Gls2 UTSW 10 128,209,350 (GRCm38) missense probably damaging 1.00
R0024:Gls2 UTSW 10 128,199,256 (GRCm38) missense probably damaging 1.00
R0378:Gls2 UTSW 10 128,207,311 (GRCm38) missense probably benign
R1179:Gls2 UTSW 10 128,199,234 (GRCm38) missense probably damaging 1.00
R1227:Gls2 UTSW 10 128,199,664 (GRCm38) missense probably damaging 1.00
R1421:Gls2 UTSW 10 128,201,348 (GRCm38) nonsense probably null
R1952:Gls2 UTSW 10 128,209,362 (GRCm38) missense probably benign
R2218:Gls2 UTSW 10 128,204,714 (GRCm38) missense probably damaging 1.00
R2291:Gls2 UTSW 10 128,207,610 (GRCm38) nonsense probably null
R2382:Gls2 UTSW 10 128,203,842 (GRCm38) missense probably damaging 1.00
R4536:Gls2 UTSW 10 128,200,937 (GRCm38) missense probably benign 0.00
R5305:Gls2 UTSW 10 128,204,709 (GRCm38) nonsense probably null
R5435:Gls2 UTSW 10 128,195,126 (GRCm38) intron probably benign
R5767:Gls2 UTSW 10 128,205,221 (GRCm38) missense probably damaging 1.00
R7223:Gls2 UTSW 10 128,199,194 (GRCm38) missense probably benign
R7767:Gls2 UTSW 10 128,195,129 (GRCm38) missense unknown
R8068:Gls2 UTSW 10 128,195,114 (GRCm38) missense unknown
R8084:Gls2 UTSW 10 128,199,256 (GRCm38) missense probably damaging 1.00
R8329:Gls2 UTSW 10 128,201,285 (GRCm38) missense probably benign 0.00
R8872:Gls2 UTSW 10 128,204,666 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- GCACTGTTCCCActctgaag -3'
Posted On 2014-05-23