Incidental Mutation 'R2874:Ggct'
ID 260456
Institutional Source Beutler Lab
Gene Symbol Ggct
Ensembl Gene ENSMUSG00000002797
Gene Name gamma-glutamyl cyclotransferase
Synonyms A030007L17Rik, Ggc, Gctg
MMRRC Submission 040462-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R2874 (G1)
Quality Score 193
Status Validated
Chromosome 6
Chromosomal Location 54962080-54969947 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 54969759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 21 (A21D)
Ref Sequence ENSEMBL: ENSMUSP00000120154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000131475] [ENSMUST00000203208] [ENSMUST00000204301]
AlphaFold Q9D7X8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000002874
Predicted Effect probably damaging
Transcript: ENSMUST00000131475
AA Change: A21D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120154
Gene: ENSMUSG00000002797
AA Change: A21D

DomainStartEndE-ValueType
Pfam:GGACT 19 143 2.2e-11 PFAM
Pfam:AIG2_2 78 160 3.1e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136527
Predicted Effect probably damaging
Transcript: ENSMUST00000203208
AA Change: A21D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145492
Gene: ENSMUSG00000002797
AA Change: A21D

DomainStartEndE-ValueType
Pfam:AIG2_2 63 124 4.9e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204301
AA Change: A21D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145291
Gene: ENSMUSG00000002797
AA Change: A21D

DomainStartEndE-ValueType
PDB:2RBH|B 1 67 2e-32 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204770
Meta Mutation Damage Score 0.7670 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides, the penultimate step in glutathione catabolism, and may play a critical role in glutathione homeostasis. The encoded protein may also play a role in cell proliferation, and the expression of this gene is a potential marker for cancer. Pseudogenes of this gene are located on the long arm of chromosome 5 and the short arm of chromosomes 2 and 20. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930029G22Rik T A 17: 69,725,106 (GRCm39) noncoding transcript Het
Ankrd42 T C 7: 92,254,566 (GRCm39) K348E possibly damaging Het
Arhgef10 T C 8: 15,025,093 (GRCm39) probably null Het
Arhgef10 A G 8: 15,025,666 (GRCm39) I459V probably benign Het
Cd6 A G 19: 10,771,990 (GRCm39) I307T possibly damaging Het
Cebpz A T 17: 79,239,532 (GRCm39) probably benign Het
Clcn4 A G 7: 7,293,520 (GRCm39) I412T probably benign Het
Clstn3 T A 6: 124,415,294 (GRCm39) D690V probably damaging Het
Col12a1 A T 9: 79,606,831 (GRCm39) F531I probably damaging Het
Dennd2b A T 7: 109,156,637 (GRCm39) Y38N probably benign Het
Dhx57 A T 17: 80,558,805 (GRCm39) D1051E probably benign Het
Ext2 A G 2: 93,570,031 (GRCm39) V460A possibly damaging Het
Frmpd4 A T X: 166,260,243 (GRCm39) D1166E probably benign Het
Fscb T C 12: 64,520,210 (GRCm39) K419E probably benign Het
Ftdc1 A T 16: 58,434,342 (GRCm39) I125K probably benign Het
Gm10717 A G 9: 3,025,532 (GRCm39) Y39C probably benign Het
Grid2ip C A 5: 143,343,684 (GRCm39) Q127K probably benign Het
Ighv2-2 G A 12: 113,552,118 (GRCm39) T40I possibly damaging Het
Itpr2 T C 6: 146,327,996 (GRCm39) K79R possibly damaging Het
Klf8 A T X: 152,165,678 (GRCm39) E82D probably damaging Het
Kpna7 T C 5: 144,930,745 (GRCm39) T367A probably benign Het
Lactbl1 G A 4: 136,354,097 (GRCm39) C37Y probably damaging Het
Lrp1b A G 2: 40,741,705 (GRCm39) L3188P probably damaging Het
Matcap1 A G 8: 106,008,664 (GRCm39) M451T possibly damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Noc4l A G 5: 110,796,969 (GRCm39) V465A probably benign Het
Notch1 A G 2: 26,350,247 (GRCm39) C2298R possibly damaging Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Parp1 A G 1: 180,401,230 (GRCm39) D45G probably damaging Het
Plxna3 T A X: 73,383,002 (GRCm39) probably benign Het
Prdx4 A G X: 154,123,460 (GRCm39) V15A probably benign Het
Prps1 C T X: 139,372,743 (GRCm39) probably benign Het
Psmb8 T C 17: 34,419,144 (GRCm39) I146T probably damaging Het
Qng1 T A 13: 58,530,384 (GRCm39) I209F probably damaging Het
Ralgds A G 2: 28,438,781 (GRCm39) probably null Het
Rasl12 A G 9: 65,315,605 (GRCm39) N83S probably benign Het
Rnf6 T C 5: 146,147,215 (GRCm39) Y601C probably benign Het
Rreb1 T C 13: 38,100,484 (GRCm39) I205T probably benign Het
Sgk2 A G 2: 162,836,449 (GRCm39) probably benign Het
Spsb4 G T 9: 96,878,071 (GRCm39) T84K probably damaging Het
St7 C T 6: 17,819,276 (GRCm39) P60L probably damaging Het
Stx3 A T 19: 11,766,938 (GRCm39) V91D probably damaging Het
Tbc1d8 A G 1: 39,444,398 (GRCm39) F187S probably damaging Het
Tep1 A G 14: 51,088,107 (GRCm39) I85T possibly damaging Het
Trpa1 A G 1: 14,957,844 (GRCm39) C705R probably damaging Het
Vmn2r68 A C 7: 84,882,834 (GRCm39) M306R probably benign Het
Vwa7 G A 17: 35,240,218 (GRCm39) M395I probably damaging Het
Zfp53 A T 17: 21,728,340 (GRCm39) E124D probably benign Het
Other mutations in Ggct
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0022:Ggct UTSW 6 54,962,887 (GRCm39) nonsense probably null
R0022:Ggct UTSW 6 54,962,887 (GRCm39) nonsense probably null
R1109:Ggct UTSW 6 54,966,554 (GRCm39) splice site probably benign
R9502:Ggct UTSW 6 54,962,872 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- TGCTCATAACCGGTGGAAAAG -3'
(R):5'- AATCCTGGTAGTTAGCTCACG -3'

Sequencing Primer
(F):5'- CGGTGGAAAAGGGCAGCC -3'
(R):5'- TAGTTAGCTCACGCCGGCAAG -3'
Posted On 2015-01-23