Incidental Mutation 'R8918:Gstm2'
ID 679040
Institutional Source Beutler Lab
Gene Symbol Gstm2
Ensembl Gene ENSMUSG00000040562
Gene Name glutathione S-transferase, mu 2
Synonyms Gstb-2, Gstb2
MMRRC Submission 068705-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R8918 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 107889018-107893736 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107892382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 115 (C115S)
Ref Sequence ENSEMBL: ENSMUSP00000012348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012348] [ENSMUST00000066530]
AlphaFold P15626
Predicted Effect possibly damaging
Transcript: ENSMUST00000012348
AA Change: C115S

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000012348
Gene: ENSMUSG00000040562
AA Change: C115S

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: C81S

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000066675
Gene: ENSMUSG00000040562
AA Change: C81S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,333,315 (GRCm39) F480L probably damaging Het
Actr6 A T 10: 89,553,057 (GRCm39) I267N probably damaging Het
Ank2 A G 3: 126,737,380 (GRCm39) S2835P unknown Het
Arfgef3 C T 10: 18,511,453 (GRCm39) R753Q probably benign Het
Arid3a A G 10: 79,784,765 (GRCm39) T285A probably benign Het
Atad5 T C 11: 79,986,473 (GRCm39) V520A probably benign Het
Atoh1 T G 6: 64,707,241 (GRCm39) L312R probably damaging Het
Brd10 T C 19: 29,696,841 (GRCm39) K884R possibly damaging Het
Cpt1a T C 19: 3,408,258 (GRCm39) V179A Het
Crocc2 C A 1: 93,129,144 (GRCm39) N816K possibly damaging Het
Csf2ra A T 19: 61,214,721 (GRCm39) V201D probably damaging Het
Dok1 C T 6: 83,008,324 (GRCm39) V453I probably benign Het
Elp4 A G 2: 105,662,600 (GRCm39) S175P probably benign Het
Erh G T 12: 80,684,282 (GRCm39) A65E probably benign Het
Etl4 G A 2: 20,748,733 (GRCm39) S357N probably benign Het
Etl4 A G 2: 20,811,246 (GRCm39) T1478A probably benign Het
Gabra1 A G 11: 42,026,320 (GRCm39) F324S probably damaging Het
Gm11437 T C 11: 84,043,530 (GRCm39) T254A probably benign Het
Gria2 T C 3: 80,599,706 (GRCm39) E726G probably damaging Het
Ighv1-12 T C 12: 114,579,553 (GRCm39) T90A probably damaging Het
Inf2 A G 12: 112,572,703 (GRCm39) I690V unknown Het
Kdm3b A G 18: 34,970,650 (GRCm39) N1739S probably damaging Het
Lrp1b A T 2: 40,615,893 (GRCm39) N3614K Het
Mapk8ip3 A G 17: 25,131,727 (GRCm39) L404P probably damaging Het
Mcl1 T C 3: 95,567,192 (GRCm39) F251S probably damaging Het
Mdn1 T A 4: 32,744,579 (GRCm39) L4038* probably null Het
Mmp8 T C 9: 7,561,485 (GRCm39) V163A probably benign Het
Myo18b C T 5: 113,022,873 (GRCm39) probably benign Het
Ndst1 C T 18: 60,825,083 (GRCm39) R745H probably benign Het
Or4d2b A G 11: 87,780,284 (GRCm39) V146A probably benign Het
Or8c18 T C 9: 38,203,385 (GRCm39) F48S probably benign Het
Pard3 C T 8: 128,098,011 (GRCm39) R351C probably benign Het
Pcdhgb4 A G 18: 37,855,648 (GRCm39) D681G probably damaging Het
Pde10a G A 17: 9,160,063 (GRCm39) A163T possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pelp1 A G 11: 70,296,505 (GRCm39) L123S probably damaging Het
Plekhh2 A G 17: 84,906,621 (GRCm39) D1152G possibly damaging Het
Rag1 T C 2: 101,472,098 (GRCm39) T1015A probably benign Het
Rock2 C T 12: 16,990,422 (GRCm39) Q115* probably null Het
Rorb T A 19: 18,915,356 (GRCm39) H434L probably damaging Het
Safb2 A T 17: 56,882,975 (GRCm39) C219* probably null Het
Sema3a A G 5: 13,573,099 (GRCm39) H209R probably damaging Het
Serpinb9g T G 13: 33,679,131 (GRCm39) S334A probably benign Het
Slc5a9 T A 4: 111,741,147 (GRCm39) M500L probably benign Het
Snap91 A G 9: 86,651,611 (GRCm39) S810P unknown Het
Spink5 G T 18: 44,100,087 (GRCm39) A35S probably damaging Het
Stxbp5l G A 16: 36,954,892 (GRCm39) T887I Het
Tacc2 T C 7: 130,227,823 (GRCm39) F1503L probably benign Het
Tectb A G 19: 55,180,000 (GRCm39) E272G probably damaging Het
Trdn A T 10: 33,015,117 (GRCm39) I24F probably benign Het
Tshr G A 12: 91,504,211 (GRCm39) S383N probably benign Het
Tspan1 C A 4: 116,020,970 (GRCm39) C149F probably damaging Het
Ttn A T 2: 76,570,862 (GRCm39) L26677Q probably damaging Het
Ush2a T A 1: 188,270,017 (GRCm39) F1755I possibly damaging Het
Vps13d T A 4: 144,772,873 (GRCm39) I4047F Het
Zfp1010 A C 2: 176,958,551 (GRCm39) S29R probably benign Het
Zfp369 T A 13: 65,443,529 (GRCm39) L336* probably null Het
Zfp518a A C 19: 40,901,870 (GRCm39) K600Q possibly damaging Het
Zfp984 T C 4: 147,840,623 (GRCm39) H76R possibly damaging Het
Zscan10 G A 17: 23,826,116 (GRCm39) G138S probably benign 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
R1239:Gstm2 UTSW 3 107,891,344 (GRCm39) missense possibly damaging 0.61
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
Predicted Primers PCR Primer
(F):5'- TCACTGTCGAGAGTCTGGAC -3'
(R):5'- TTGCCCGAAAGCACAACCTG -3'

Sequencing Primer
(F):5'- ACTGGACCTTAGGCCAATGACTG -3'
(R):5'- ACAACCTGTGTGAGTGGGGC -3'
Posted On 2021-08-02