Incidental Mutation 'R1846:Ggt5'
ID 207741
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 039871-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1846 (G1)
Quality Score 216
Status Validated
Chromosome 10
Chromosomal Location 75425174-75453034 bp(+) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to G at 75446376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000072074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072217] [ENSMUST00000218807]
AlphaFold Q9Z2A9
Predicted Effect probably null
Transcript: ENSMUST00000072217
SMART Domains Protein: ENSMUSP00000072074
Gene: ENSMUSG00000006344

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:G_glu_transpept 58 568 1.6e-164 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188444
Predicted Effect probably benign
Transcript: ENSMUST00000218807
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219247
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.6%
Validation Efficiency 99% (75/76)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik G A 7: 12,246,809 (GRCm39) R63Q probably benign Het
Adamts20 A T 15: 94,243,871 (GRCm39) C619S probably damaging Het
Alx1 T C 10: 102,861,165 (GRCm39) D121G possibly damaging Het
Anks3 A C 16: 4,771,748 (GRCm39) M215R probably benign Het
Anxa4 T A 6: 86,718,893 (GRCm39) probably null Het
Arhgef25 A G 10: 127,021,733 (GRCm39) V222A probably damaging Het
Bglap2 A G 3: 88,285,932 (GRCm39) probably benign Het
Cars2 A G 8: 11,564,674 (GRCm39) V22A probably benign Het
Ccdc198 G T 14: 49,473,420 (GRCm39) L102I probably damaging Het
Cenpe T A 3: 134,945,606 (GRCm39) I1040N probably damaging Het
Cep170 C T 1: 176,583,335 (GRCm39) D1015N probably damaging Het
Chia1 T A 3: 106,038,181 (GRCm39) I359N probably damaging Het
Crot A T 5: 9,038,248 (GRCm39) V93E probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnmbp T C 19: 43,891,186 (GRCm39) I194V probably damaging Het
Dock4 T A 12: 40,783,267 (GRCm39) C734S probably benign Het
Eif4e3 T C 6: 99,617,662 (GRCm39) S70G probably benign Het
Entpd3 G A 9: 120,387,441 (GRCm39) D213N probably benign Het
Ern2 T G 7: 121,775,759 (GRCm39) Y445S probably benign Het
Fasn A G 11: 120,704,133 (GRCm39) S1429P probably benign Het
Fat4 A G 3: 39,036,532 (GRCm39) I3395V probably benign Het
Fbln2 C A 6: 91,233,399 (GRCm39) Q628K possibly damaging Het
Fbxo28 T C 1: 182,153,845 (GRCm39) N164D probably benign Het
Fez1 T C 9: 36,779,063 (GRCm39) S247P probably damaging Het
Gars1 A G 6: 55,040,153 (GRCm39) D360G probably benign Het
Gcfc2 A T 6: 81,933,873 (GRCm39) Q710L probably damaging Het
Glp1r A G 17: 31,148,909 (GRCm39) probably null Het
Hspa14 T C 2: 3,492,697 (GRCm39) D356G possibly damaging Het
Htt T A 5: 35,006,288 (GRCm39) I1399N probably damaging Het
Kmt2e G A 5: 23,704,484 (GRCm39) probably benign Het
Krt36 C A 11: 99,996,374 (GRCm39) G17C probably damaging Het
Lama2 T C 10: 27,088,092 (GRCm39) E895G probably damaging Het
Lamb2 G A 9: 108,364,586 (GRCm39) R1142H probably benign Het
Lhcgr C T 17: 89,072,575 (GRCm39) probably null Het
Lpin2 A G 17: 71,532,064 (GRCm39) T140A probably benign Het
Metap1 A G 3: 138,186,443 (GRCm39) probably benign Het
Mpeg1 T C 19: 12,440,486 (GRCm39) V648A probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Muc4 T A 16: 32,752,369 (GRCm38) I749N probably benign Het
N4bp2 T C 5: 65,965,862 (GRCm39) F1304L probably damaging Het
Nup85 A G 11: 115,459,239 (GRCm39) E114G probably benign Het
Or2a5 A G 6: 42,874,254 (GRCm39) S290G probably damaging Het
Or4c10 A G 2: 89,761,010 (GRCm39) T286A possibly damaging Het
Or6b2b A T 1: 92,418,822 (GRCm39) Y218* probably null Het
Pafah2 GCCCC GCCCCC 4: 134,152,852 (GRCm39) probably null Het
Parp2 T A 14: 51,052,843 (GRCm39) C145* probably null Het
Plpp6 T C 19: 28,941,680 (GRCm39) S94P probably benign Het
Polr1a T C 6: 71,953,172 (GRCm39) I1580T probably damaging Het
Polrmt A T 10: 79,574,043 (GRCm39) V860E probably damaging Het
Ppp1r17 A G 6: 55,999,412 (GRCm39) E15G possibly damaging Het
Prl7b1 A T 13: 27,786,831 (GRCm39) W133R probably damaging Het
Ptk7 A G 17: 46,887,416 (GRCm39) probably null Het
Rad23b C T 4: 55,383,637 (GRCm39) Q290* probably null Het
Rorb C T 19: 18,932,445 (GRCm39) E369K probably damaging Het
Rusc1 T C 3: 88,999,452 (GRCm39) D110G probably damaging Het
Smg7 A G 1: 152,724,601 (GRCm39) S527P probably damaging Het
Ssbp2 C T 13: 91,812,268 (GRCm39) P105L probably damaging Het
Stt3a C T 9: 36,674,681 (GRCm39) R34H probably damaging Het
Sufu T A 19: 46,439,386 (GRCm39) I202N possibly damaging Het
Thsd7b G A 1: 129,540,993 (GRCm39) R289Q probably damaging Het
Tph1 A T 7: 46,309,863 (GRCm39) S130T probably damaging Het
Ttn A G 2: 76,776,030 (GRCm39) S1671P probably damaging Het
Usp4 A G 9: 108,249,935 (GRCm39) I441V probably benign Het
Vmn1r8 A G 6: 57,013,413 (GRCm39) N155D probably benign Het
Vmn2r115 A C 17: 23,578,357 (GRCm39) K610T probably damaging Het
Vmn2r62 G A 7: 42,438,546 (GRCm39) P97S probably damaging Het
Zbtb40 T C 4: 136,735,150 (GRCm39) D297G probably benign Het
Zfp174 C A 16: 3,672,599 (GRCm39) Q383K probably benign Het
Zfp318 T A 17: 46,724,592 (GRCm39) D2198E probably benign Het
Zfp628 C T 7: 4,923,866 (GRCm39) P696L possibly damaging Het
Zgrf1 T A 3: 127,409,112 (GRCm39) N1695K probably damaging 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
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
R8259: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'- TGGCTAGAGTGTTCCCTCTC -3'
(R):5'- GTTTTGAAGTCCTCCACCTGGG -3'

Sequencing Primer
(F):5'- TCCCGCGAAACTCCCTG -3'
(R):5'- TCCACCTGGGAGAAGCC -3'
Posted On 2014-06-23