Incidental Mutation 'R3765:Gstm2'
ID 274641
Institutional Source Beutler Lab
Gene Symbol Gstm2
Ensembl Gene ENSMUSG00000040562
Gene Name glutathione S-transferase, mu 2
Synonyms Gstb-2, Gstb2
MMRRC Submission 040742-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R3765 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 107889018-107893736 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107891346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 124 (F124S)
Ref Sequence ENSEMBL: ENSMUSP00000066675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012348] [ENSMUST00000066530]
AlphaFold P15626
Predicted Effect probably damaging
Transcript: ENSMUST00000012348
AA Change: F158S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000012348
Gene: ENSMUSG00000040562
AA Change: F158S

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 probably damaging
Transcript: ENSMUST00000066530
AA Change: F124S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066675
Gene: ENSMUSG00000040562
AA Change: F124S

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T C 7: 75,258,585 (GRCm39) V403A probably benign Het
Arid2 T C 15: 96,268,595 (GRCm39) S903P probably benign Het
Arl6ip6 T A 2: 53,082,243 (GRCm39) W37R probably damaging Het
Bag3 C T 7: 128,141,995 (GRCm39) T162I probably benign Het
C4b G A 17: 34,948,814 (GRCm39) P1545S probably damaging Het
Ccdc185 T A 1: 182,575,117 (GRCm39) H524L possibly damaging Het
Cfap43 T C 19: 47,824,014 (GRCm39) N119S probably benign Het
Churc1 C A 12: 76,820,057 (GRCm39) S22* probably null Het
Crbn T C 6: 106,771,987 (GRCm39) K106E possibly damaging Het
Dag1 C T 9: 108,085,398 (GRCm39) G581E probably damaging Het
Dpp4 T A 2: 62,216,780 (GRCm39) T92S probably benign Het
Fam135a T C 1: 24,094,958 (GRCm39) T137A possibly damaging Het
Fcsk A G 8: 111,613,736 (GRCm39) I775T probably benign Het
Fermt1 T C 2: 132,748,622 (GRCm39) D667G possibly damaging Het
Foxl2 T A 9: 98,838,039 (GRCm39) I109N probably damaging Het
Frk A G 10: 34,360,001 (GRCm39) M1V probably null Het
Hmcn1 T C 1: 150,620,776 (GRCm39) S1145G possibly damaging Het
Ints10 A G 8: 69,277,771 (GRCm39) T682A possibly damaging Het
Jmy T C 13: 93,601,219 (GRCm39) M396V possibly damaging Het
Ldb3 A T 14: 34,300,639 (GRCm39) probably null Het
Mre11a A G 9: 14,721,143 (GRCm39) N354S probably benign Het
Nbea A G 3: 55,912,970 (GRCm39) V939A probably damaging Het
Nphs1 T C 7: 30,170,635 (GRCm39) S928P probably damaging Het
Or5b109 G A 19: 13,211,795 (GRCm39) M60I probably damaging Het
Or7a40 A G 16: 16,491,179 (GRCm39) V222A probably benign Het
Or8g34 T A 9: 39,372,920 (GRCm39) Y61* probably null Het
Or9e1 T C 11: 58,732,120 (GRCm39) F60S probably damaging Het
Pla2g12b G A 10: 59,257,323 (GRCm39) V169M probably damaging Het
Polr1c C T 17: 46,558,850 (GRCm39) V14M probably damaging Het
Prg4 G A 1: 150,327,122 (GRCm39) S898L probably damaging Het
Prmt6 C A 3: 110,157,510 (GRCm39) E260* probably null Het
Ptx4 A G 17: 25,341,842 (GRCm39) T106A probably benign Het
Rab3il1 A G 19: 10,005,673 (GRCm39) T87A probably damaging Het
Sbf2 A G 7: 109,974,788 (GRCm39) V783A probably damaging Het
Scn2a A C 2: 65,513,054 (GRCm39) D209A possibly damaging Het
Setd2 T C 9: 110,423,314 (GRCm39) L345P probably damaging Het
Slc18b1 A G 10: 23,674,647 (GRCm39) D34G probably damaging Het
Slc9c1 A T 16: 45,411,244 (GRCm39) M934L possibly damaging Het
Slx4 A G 16: 3,798,850 (GRCm39) V1357A probably damaging Het
Spidr T C 16: 15,786,504 (GRCm39) E413G probably benign Het
Taar1 A G 10: 23,797,205 (GRCm39) Y301C probably damaging Het
Tada2b A T 5: 36,633,761 (GRCm39) D197E probably benign Het
Taf1c G T 8: 120,327,224 (GRCm39) Y418* probably null Het
Tanc2 A G 11: 105,805,796 (GRCm39) D394G probably damaging Het
Tnpo3 T C 6: 29,579,688 (GRCm39) D235G probably benign Het
Tns3 G A 11: 8,401,133 (GRCm39) A1055V probably benign Het
Wdfy3 A G 5: 102,009,266 (GRCm39) Y2767H probably damaging Het
Zfhx3 A G 8: 109,519,394 (GRCm39) N172S probably damaging Het
Zfp839 T C 12: 110,821,597 (GRCm39) V137A 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
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

Sequencing Primer
Posted On 2015-04-02