Incidental Mutation 'R8259:Ggt5'
ID 640452
Institutional Source Beutler Lab
Gene Symbol Ggt5
Ensembl Gene ENSMUSG00000006344
Gene Name gamma-glutamyltransferase 5
Synonyms Ggtla1, GGL, gamma-glutamyl leukotrienase, GGT-REL
MMRRC Submission 067650-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8259 (G1)
Quality Score 206.009
Status Validated
Chromosome 10
Chromosomal Location 75425174-75453034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 75450666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 558 (V558I)
Ref Sequence ENSEMBL: ENSMUSP00000072074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072217]
AlphaFold Q9Z2A9
Predicted Effect probably benign
Transcript: ENSMUST00000072217
AA Change: V558I

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000072074
Gene: ENSMUSG00000006344
AA Change: V558I

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:G_glu_transpept 58 568 1.6e-164 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (82/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the gamma-glutamyl transpeptidase gene family, and some reports indicate that it is capable of cleaving the gamma-glutamyl moiety of glutathione. The protein encoded by this gene is synthesized as a single, catalytically-inactive polypeptide, that is processed post-transcriptionally to form a heavy and light subunit, with the catalytic activity contained within the small subunit. The encoded enzyme is able to convert leukotriene C4 to leukotriene D4, but appears to have distinct substrate specificity compared to gamma-glutamyl transpeptidase. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous mutants show an attenuation in neutrophil recruitment in an experimental model of peritonitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 119,939,422 (GRCm39) H272L probably benign Het
Abcg5 T G 17: 84,983,523 (GRCm39) T144P possibly damaging Het
Adam34 G A 8: 44,104,646 (GRCm39) S333L probably benign Het
Adcy6 A G 15: 98,498,919 (GRCm39) F294S probably damaging Het
Adhfe1 A G 1: 9,628,417 (GRCm39) N263S probably null Het
Aebp2 A T 6: 140,583,453 (GRCm39) Q309L possibly damaging Het
Akap7 A G 10: 25,047,054 (GRCm39) Y281H probably damaging Het
Aplf T C 6: 87,606,987 (GRCm39) R476G probably benign Het
Atg2a G A 19: 6,299,859 (GRCm39) A588T probably damaging Het
Birc6 A G 17: 74,905,073 (GRCm39) T1289A probably benign Het
Cacna1d A G 14: 29,773,475 (GRCm39) S1759P probably benign Het
Calcoco1 T C 15: 102,624,228 (GRCm39) D236G probably damaging Het
Camsap2 A T 1: 136,208,077 (GRCm39) D470E probably benign Het
Capn8 G T 1: 182,392,698 (GRCm39) V25L probably benign Het
Card10 A G 15: 78,660,884 (GRCm39) V1041A probably damaging Het
Ccr1 T A 9: 123,764,119 (GRCm39) H137L probably damaging Het
Cdh23 A T 10: 60,151,435 (GRCm39) D2483E probably damaging Het
Chd2 G T 7: 73,085,532 (GRCm39) Q1701K probably benign Het
Ckmt2 T A 13: 92,007,335 (GRCm39) R286S probably damaging Het
Clhc1 G A 11: 29,503,746 (GRCm39) R54Q probably benign Het
Cntnap3 T A 13: 64,935,681 (GRCm39) D394V probably damaging Het
Comp A G 8: 70,831,704 (GRCm39) D441G probably damaging Het
Cyp20a1 G A 1: 60,391,330 (GRCm39) probably null Het
Cyp27a1 A T 1: 74,771,214 (GRCm39) D133V probably benign Het
Cyp2a12 C T 7: 26,732,083 (GRCm39) Q275* probably null Het
Dnhd1 A T 7: 105,343,995 (GRCm39) I1780L probably benign Het
Dpy19l2 A G 9: 24,580,702 (GRCm39) V213A probably benign Het
Eml1 A T 12: 108,476,458 (GRCm39) I283F probably damaging Het
Ep300 A G 15: 81,523,218 (GRCm39) T1281A unknown Het
Ercc6l2 G A 13: 64,020,285 (GRCm39) E803K Het
Fat3 A G 9: 15,901,887 (GRCm39) V3046A possibly damaging Het
Fbxw20 A G 9: 109,063,763 (GRCm39) V3A probably benign Het
Fcgr2b A G 1: 170,795,702 (GRCm39) S76P possibly damaging Het
Fgg C T 3: 82,917,477 (GRCm39) Q169* probably null Het
Flnb A G 14: 7,889,183 (GRCm38) Y511C probably damaging Het
Gm4779 G C X: 100,837,390 (GRCm39) T171S possibly damaging Het
Greb1 A T 12: 16,774,925 (GRCm39) C157* probably null Het
Grid2ip A G 5: 143,348,344 (GRCm39) E145G probably benign Het
Hdac11 T A 6: 91,149,210 (GRCm39) V238E probably damaging Het
Herc2 A G 7: 55,855,638 (GRCm39) D3858G probably damaging Het
Hoxc4 A G 15: 102,943,165 (GRCm39) Y6C probably damaging Het
Incenp A G 19: 9,870,993 (GRCm39) L212P unknown Het
Incenp G C 19: 9,871,005 (GRCm39) T208R unknown Het
Mctp1 T A 13: 76,949,666 (GRCm39) probably null Het
Megf8 T C 7: 25,057,848 (GRCm39) M2095T probably benign Het
Mroh2b G A 15: 4,941,391 (GRCm39) V308I probably benign Het
Muc1 T A 3: 89,139,341 (GRCm39) H580Q probably damaging Het
Naip6 A T 13: 100,452,920 (GRCm39) M47K probably benign Het
Nectin3 C T 16: 46,256,754 (GRCm39) R419Q probably benign Het
Nlrp4g T G 9: 124,353,392 (GRCm38) Y579D noncoding transcript Het
Nrxn1 C A 17: 90,471,249 (GRCm39) R1260L probably damaging Het
Nynrin A G 14: 56,100,815 (GRCm39) I202V possibly damaging Het
Or14j7 T C 17: 38,234,847 (GRCm39) L130P probably damaging Het
Or51e2 A G 7: 102,392,034 (GRCm39) Y59H probably damaging Het
Or5ac17 T C 16: 59,036,458 (GRCm39) I173V probably benign Het
Or5b98 T C 19: 12,931,727 (GRCm39) M258T possibly damaging Het
Pard3 G A 8: 128,098,021 (GRCm39) W354* probably null Het
Pcnx3 C T 19: 5,715,412 (GRCm39) G1946E probably damaging Het
Peak1 A G 9: 56,166,677 (GRCm39) V417A probably damaging Het
Prune2 A G 19: 17,189,672 (GRCm39) R3052G unknown Het
Prx T C 7: 27,218,808 (GRCm39) L1242P probably damaging Het
Pxylp1 A G 9: 96,707,633 (GRCm39) I183T probably benign Het
Ranbp2 A G 10: 58,291,755 (GRCm39) E254G probably benign Het
Ren1 C T 1: 133,278,534 (GRCm39) R31* probably null Het
Rhot2 C A 17: 26,058,864 (GRCm39) R512L probably benign Het
Rpa1 T C 11: 75,193,550 (GRCm39) N594D probably benign Het
Rpp14 T G 14: 8,090,526 (GRCm38) V150G probably null Het
Rxfp2 T A 5: 149,983,365 (GRCm39) I300K probably damaging Het
Sbno1 A T 5: 124,519,759 (GRCm39) V1173E probably damaging Het
Scarf1 T A 11: 75,414,689 (GRCm39) S486T probably damaging Het
Slc24a4 T C 12: 102,220,928 (GRCm39) V455A probably damaging Het
Slitrk1 A G 14: 109,148,653 (GRCm39) V686A probably benign Het
Spata31e2 T C 1: 26,721,562 (GRCm39) E1206G probably benign Het
Ston2 A T 12: 91,608,454 (GRCm39) I882N probably benign Het
Syne2 C A 12: 75,996,143 (GRCm39) Q2228K possibly damaging Het
Tcf20 A C 15: 82,736,474 (GRCm39) F1659C probably damaging Het
Tenm4 G A 7: 96,517,198 (GRCm39) G1430S probably damaging Het
Tlr12 C A 4: 128,511,492 (GRCm39) A253S probably benign Het
Tmem87a A G 2: 120,227,928 (GRCm39) F73S possibly damaging Het
Trpm1 G A 7: 63,918,777 (GRCm39) A1590T probably benign Het
Usp13 C T 3: 32,971,748 (GRCm39) Q743* probably null Het
Vmn1r184 T A 7: 25,966,686 (GRCm39) M144K probably benign Het
Wee2 A G 6: 40,421,114 (GRCm39) D68G probably benign Het
Other mutations in Ggt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01503:Ggt5 APN 10 75,445,944 (GRCm39) splice site probably benign
IGL01926:Ggt5 APN 10 75,439,935 (GRCm39) missense probably benign 0.00
IGL02095:Ggt5 APN 10 75,444,637 (GRCm39) missense probably benign 0.01
IGL02252:Ggt5 APN 10 75,438,566 (GRCm39) missense possibly damaging 0.51
IGL02393:Ggt5 APN 10 75,446,071 (GRCm39) splice site probably benign
IGL02515:Ggt5 APN 10 75,425,604 (GRCm39) missense probably benign 0.23
IGL02528:Ggt5 APN 10 75,446,254 (GRCm39) splice site probably benign
IGL02964:Ggt5 APN 10 75,439,962 (GRCm39) missense probably benign 0.08
R0646:Ggt5 UTSW 10 75,438,482 (GRCm39) missense probably damaging 0.99
R0834:Ggt5 UTSW 10 75,440,604 (GRCm39) missense possibly damaging 0.73
R1454:Ggt5 UTSW 10 75,445,742 (GRCm39) missense probably benign 0.01
R1650:Ggt5 UTSW 10 75,440,595 (GRCm39) missense probably benign 0.00
R1846:Ggt5 UTSW 10 75,446,376 (GRCm39) splice site probably null
R1896:Ggt5 UTSW 10 75,440,560 (GRCm39) missense probably damaging 1.00
R2044:Ggt5 UTSW 10 75,439,921 (GRCm39) missense probably damaging 0.97
R2357:Ggt5 UTSW 10 75,445,075 (GRCm39) missense probably benign 0.19
R3151:Ggt5 UTSW 10 75,445,076 (GRCm39) missense probably benign 0.35
R4667:Ggt5 UTSW 10 75,438,865 (GRCm39) missense probably damaging 1.00
R4669:Ggt5 UTSW 10 75,438,865 (GRCm39) missense probably damaging 1.00
R5060:Ggt5 UTSW 10 75,440,608 (GRCm39) missense probably benign
R5756:Ggt5 UTSW 10 75,440,607 (GRCm39) missense probably benign
R6156:Ggt5 UTSW 10 75,445,160 (GRCm39) missense probably damaging 1.00
R6162:Ggt5 UTSW 10 75,425,626 (GRCm39) missense possibly damaging 0.92
R6900:Ggt5 UTSW 10 75,446,371 (GRCm39) missense possibly damaging 0.81
R8258:Ggt5 UTSW 10 75,450,666 (GRCm39) missense probably benign 0.04
R9001:Ggt5 UTSW 10 75,445,992 (GRCm39) missense probably benign 0.21
R9510:Ggt5 UTSW 10 75,445,139 (GRCm39) missense probably benign
R9655:Ggt5 UTSW 10 75,444,635 (GRCm39) missense probably benign
Z1088:Ggt5 UTSW 10 75,444,593 (GRCm39) missense possibly damaging 0.81
Z1176:Ggt5 UTSW 10 75,438,452 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- CCCAGCTTCATGATTTTAGGTCTG -3'
(R):5'- ATCCTGCTGAGCTGATCCTTG -3'

Sequencing Primer
(F):5'- CTTCATGATTTTAGGTCTGTTGTCC -3'
(R):5'- GAGCTGATCCTTGTTCTTTTTCAG -3'
Posted On 2020-07-28