Incidental Mutation 'R1239:Gstm2'
ID 151871
Institutional Source Beutler Lab
Gene Symbol Gstm2
Ensembl Gene ENSMUSG00000040562
Gene Name glutathione S-transferase, mu 2
Synonyms Gstb-2, Gstb2
MMRRC Submission 039306-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R1239 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 107889018-107893736 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107891344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 125 (L125F)
Ref Sequence ENSEMBL: ENSMUSP00000066675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012348] [ENSMUST00000066530]
AlphaFold P15626
Predicted Effect possibly damaging
Transcript: ENSMUST00000012348
AA Change: L159F

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000012348
Gene: ENSMUSG00000040562
AA Change: L159F

DomainStartEndE-ValueType
Pfam:GST_N 3 82 2.9e-24 PFAM
Pfam:GST_C_3 41 190 1.2e-10 PFAM
Pfam:GST_C 104 191 5.7e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000066530
AA Change: L125F

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000066675
Gene: ENSMUSG00000040562
AA Change: L125F

DomainStartEndE-ValueType
Pfam:GST_N 1 48 6.8e-12 PFAM
Pfam:GST_C 70 158 8.4e-20 PFAM
Pfam:GST_C_3 84 156 1.7e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150808
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 98% (44/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 C T 19: 4,915,483 (GRCm39) probably benign Het
Adcy8 G T 15: 64,587,911 (GRCm39) R959S probably damaging Het
Ank1 A G 8: 23,586,171 (GRCm39) N455D probably damaging Het
Ankrd17 T C 5: 90,436,535 (GRCm39) T589A probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Celsr1 G T 15: 85,863,347 (GRCm39) N1228K probably damaging Het
Ces4a T C 8: 105,876,130 (GRCm39) L557P probably damaging Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Clba1 A G 12: 112,773,123 (GRCm39) R39G probably benign Het
Col27a1 T C 4: 63,237,152 (GRCm39) probably benign Het
Cplx2 G T 13: 54,527,415 (GRCm39) A100S probably damaging Het
Cpsf6 G A 10: 117,197,248 (GRCm39) probably benign Het
Cyp1a2 A G 9: 57,589,050 (GRCm39) F255L probably benign Het
Dnajc6 T C 4: 101,492,313 (GRCm39) Y783H probably damaging Het
E230025N22Rik T C 18: 36,818,528 (GRCm39) I434V probably damaging Het
Ermap T C 4: 119,046,122 (GRCm39) K3E probably benign Het
Gatd3a A G 10: 78,004,761 (GRCm39) probably benign Het
Hk2 C T 6: 82,726,289 (GRCm39) G58R probably damaging Het
Jpt2 T C 17: 25,179,585 (GRCm39) M1V probably null Het
Matcap2 GTTCTTC GTTC 9: 22,335,995 (GRCm39) probably benign Het
Mgmt T C 7: 136,729,786 (GRCm39) F200S probably benign Het
Mug2 T G 6: 122,058,637 (GRCm39) probably benign Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Or5an11 G T 19: 12,246,340 (GRCm39) V249F probably damaging Het
Or5b109 G A 19: 13,212,040 (GRCm39) C142Y possibly damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Phc3 A G 3: 30,968,279 (GRCm39) V886A probably damaging Het
Plcg2 T A 8: 118,282,783 (GRCm39) V88D probably benign Het
Podxl2 C T 6: 88,826,965 (GRCm39) V50I probably benign Het
Rap1gap G T 4: 137,445,307 (GRCm39) M329I probably damaging Het
Rbm5 A G 9: 107,630,165 (GRCm39) probably benign Het
Robo1 A G 16: 72,821,430 (GRCm39) probably null Het
Ryr2 A T 13: 11,897,929 (GRCm39) probably null Het
Skida1 A C 2: 18,052,128 (GRCm39) probably benign Het
Tecta A G 9: 42,243,781 (GRCm39) F2024L probably damaging Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,465,042 (GRCm39) probably benign Het
Vmn1r16 C T 6: 57,300,618 (GRCm39) M1I probably null Het
Zbtb39 G T 10: 127,578,938 (GRCm39) G504V probably damaging Het
Zfp1004 T C 2: 150,033,891 (GRCm39) Y71H possibly damaging Het
Zfp106 A T 2: 120,364,075 (GRCm39) N777K probably damaging Het
Other mutations in Gstm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01506:Gstm2 APN 3 107,892,559 (GRCm39) splice site probably null
IGL01821:Gstm2 APN 3 107,892,369 (GRCm39) missense possibly damaging 0.51
IGL02662:Gstm2 APN 3 107,892,378 (GRCm39) missense possibly damaging 0.94
IGL02667:Gstm2 APN 3 107,893,424 (GRCm39) missense probably damaging 1.00
IGL03088:Gstm2 APN 3 107,893,362 (GRCm39) missense probably benign 0.00
IGL03341:Gstm2 APN 3 107,891,521 (GRCm39) missense possibly damaging 0.86
R0415:Gstm2 UTSW 3 107,891,322 (GRCm39) missense probably benign 0.37
R2213:Gstm2 UTSW 3 107,893,409 (GRCm39) missense probably damaging 1.00
R2437:Gstm2 UTSW 3 107,891,369 (GRCm39) splice site probably benign
R3765:Gstm2 UTSW 3 107,891,346 (GRCm39) missense probably damaging 1.00
R4402:Gstm2 UTSW 3 107,893,370 (GRCm39) missense probably benign 0.02
R4805:Gstm2 UTSW 3 107,892,411 (GRCm39) missense possibly damaging 0.92
R5791:Gstm2 UTSW 3 107,891,444 (GRCm39) critical splice donor site probably null
R6918:Gstm2 UTSW 3 107,892,557 (GRCm39) splice site probably null
R7669:Gstm2 UTSW 3 107,892,992 (GRCm39) missense probably benign 0.00
R8224:Gstm2 UTSW 3 107,891,314 (GRCm39) missense probably benign
R8463:Gstm2 UTSW 3 107,893,672 (GRCm39) critical splice donor site probably null
R8918:Gstm2 UTSW 3 107,892,382 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- TCCCAACACGATCCAATGGAGCTG -3'
(R):5'- GCTCTACTCTGAGTTTCTGGGCAAG -3'

Sequencing Primer
(F):5'- CCAATGGAGCTGATAAGTTCAC -3'
(R):5'- ATTCCAGAGCACTCACCCTT -3'
Posted On 2014-01-29