Mutagenetix > Incidental Mutation

Incidental Mutation 'R2437:Gstm2'

249636

Institutional Source

Beutler Lab

Gene Symbol

Gstm2

Ensembl Gene

ENSMUSG00000040562

Gene Name

glutathione S-transferase, mu 2

Synonyms

Gstb-2, Gstb2

MMRRC Submission

040398-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R2437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107889018-107893736 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 107891369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000066675 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012348] [ENSMUST00000066530]

AlphaFold

P15626

Predicted Effect

probably benign
Transcript: ENSMUST00000012348

SMART Domains

Protein: ENSMUSP00000012348
Gene: ENSMUSG00000040562

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000066530

SMART Domains

Protein: ENSMUSP00000066675
Gene: ENSMUSG00000040562

Domain	Start	End	E-Value	Type
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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (75/75)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 148,031,075 (GRCm39)	*635W	probably null	Het
Anxa2	A	G	9: 69,397,046 (GRCm39)	Y317C	probably damaging	Het
Arhgef26	T	C	3: 62,340,002 (GRCm39)	S675P	probably damaging	Het
Bltp1	T	A	3: 37,012,834 (GRCm39)		probably null	Het
Camk2d	A	G	3: 126,628,277 (GRCm39)	N53S	probably damaging	Het
Carns1	A	T	19: 4,215,782 (GRCm39)	M800K	possibly damaging	Het
Ces1f	A	T	8: 93,996,767 (GRCm39)		probably null	Het
Chrne	T	A	11: 70,506,086 (GRCm39)	D426V	possibly damaging	Het
Cntfr	T	C	4: 41,671,035 (GRCm39)	T43A	probably damaging	Het
Cntn5	A	T	9: 10,048,758 (GRCm39)	C63*	probably null	Het
Col12a1	G	A	9: 79,599,501 (GRCm39)	T884I	probably damaging	Het
Dnah5	T	C	15: 28,307,537 (GRCm39)		probably null	Het
Dnajc2	A	T	5: 21,965,389 (GRCm39)	S537R	probably benign	Het
Dnajc25	T	C	4: 59,020,234 (GRCm39)	I100T	probably damaging	Het
Ephx1	C	A	1: 180,823,661 (GRCm39)	G149C	probably damaging	Het
Fam163b	G	T	2: 27,002,698 (GRCm39)	P100T	probably damaging	Het
Fbxl9	A	G	8: 106,039,675 (GRCm39)		probably null	Het
Fgd5	A	T	6: 92,039,850 (GRCm39)	R1017*	probably null	Het
Fibin	A	T	2: 110,192,848 (GRCm39)	L98Q	probably damaging	Het
Fndc3b	A	T	3: 27,505,481 (GRCm39)	L929H	probably damaging	Het
Frem1	T	A	4: 82,918,410 (GRCm39)	S512C	probably damaging	Het
Gm4922	T	A	10: 18,659,829 (GRCm39)	M298L	probably benign	Het
Gtf3c2	A	G	5: 31,317,042 (GRCm39)		probably null	Het
Ibtk	A	C	9: 85,590,178 (GRCm39)	L1026V	probably benign	Het
Il9	T	A	13: 56,629,684 (GRCm39)		probably benign	Het
Inpp4a	T	C	1: 37,432,037 (GRCm39)	S146P	probably damaging	Het
Kcnab1	G	T	3: 65,264,435 (GRCm39)		probably benign	Het
Mgat4c	T	C	10: 102,224,436 (GRCm39)	S217P	probably damaging	Het
Mr1	T	C	1: 155,008,277 (GRCm39)	M233V	probably benign	Het
Ncoa2	G	A	1: 13,218,584 (GRCm39)	T1415I	probably damaging	Het
Oasl2	G	A	5: 115,049,357 (GRCm39)	D486N	probably benign	Het
Or1j14	A	T	2: 36,418,258 (GRCm39)	Y278F	probably damaging	Het
Or9a7	G	A	6: 40,521,856 (GRCm39)	T19I	probably benign	Het
Or9s27	T	C	1: 92,516,688 (GRCm39)	I212T	possibly damaging	Het
Pcnx4	T	C	12: 72,588,587 (GRCm39)	F132L	probably damaging	Het
Pde5a	T	A	3: 122,636,702 (GRCm39)	L717Q	probably damaging	Het
Peli2	A	T	14: 48,465,389 (GRCm39)		probably benign	Het
Phf14	A	G	6: 11,962,657 (GRCm39)	S435G	probably damaging	Het
Plekhg1	T	A	10: 3,913,564 (GRCm39)	H1095Q	probably damaging	Het
Plekhh2	A	G	17: 84,893,907 (GRCm39)		probably null	Het
Plekho1	T	G	3: 95,899,497 (GRCm39)	N99H	probably damaging	Het
Plxnc1	T	A	10: 94,742,395 (GRCm39)	K457N	probably benign	Het
Ppp1r3a	T	C	6: 14,718,322 (GRCm39)	E864G	probably benign	Het
Prkab2	T	A	3: 97,574,715 (GRCm39)	L237Q	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptger3	T	A	3: 157,273,207 (GRCm39)	C185S	probably damaging	Het
Ptprk	T	C	10: 28,230,709 (GRCm39)	Y267H	probably damaging	Het
Pum2	A	G	12: 8,794,654 (GRCm39)	I715V	probably benign	Het
R3hdm1	T	C	1: 128,114,573 (GRCm39)	V518A	probably damaging	Het
Rab3d	T	C	9: 21,827,147 (GRCm39)	I28V	probably damaging	Het
Rad54b	T	C	4: 11,606,272 (GRCm39)	L560P	probably damaging	Het
Rgs20	A	G	1: 5,140,370 (GRCm39)		probably null	Het
Sesn1	T	A	10: 41,781,315 (GRCm39)	L460H	probably damaging	Het
Slc39a14	A	G	14: 70,553,885 (GRCm39)		probably null	Het
Slco6c1	T	A	1: 96,990,201 (GRCm39)	H663L	probably benign	Het
Snx13	T	A	12: 35,132,926 (GRCm39)	C63S	probably benign	Het
Spmip4	T	A	6: 50,560,959 (GRCm39)	D212V	probably damaging	Het
Strip2	T	C	6: 29,941,940 (GRCm39)		probably null	Het
Syncrip	A	G	9: 88,361,620 (GRCm39)		probably benign	Het
Taf15	A	G	11: 83,395,579 (GRCm39)		probably benign	Het
Tbc1d8	T	C	1: 39,444,368 (GRCm39)		probably null	Het
Tgm4	T	A	9: 122,877,614 (GRCm39)	C205*	probably null	Het
Tmem212	A	T	3: 27,940,628 (GRCm39)	L63Q	possibly damaging	Het
Tmem63a	G	A	1: 180,790,054 (GRCm39)		probably null	Het
Trpm5	C	A	7: 142,636,298 (GRCm39)	V525L	probably benign	Het
Ttn	A	G	2: 76,537,171 (GRCm39)	L34919P	probably damaging	Het
Ttn	T	C	2: 76,694,619 (GRCm39)		probably benign	Het
Tuba4a	T	C	1: 75,194,069 (GRCm39)	I4V	possibly damaging	Het
Ubr4	A	G	4: 139,200,853 (GRCm39)	D4679G	possibly damaging	Het
Usp2	T	G	9: 44,003,445 (GRCm39)	V448G	probably damaging	Het
Usp3	A	G	9: 66,453,024 (GRCm39)		probably null	Het
Zfp341	T	A	2: 154,470,721 (GRCm39)	V246E	probably damaging	Het

Other mutations in Gstm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TTCACACAAAACGCAGGGTG -3'
(R):5'- CTGTGTCTGAAAGTGGTGACAG -3'

Sequencing Primer
(F):5'- TGAACACAGTTCCATGCTTAAC -3'
(R):5'- ACAGTTGTTTTCTGCTTCAGGAG -3'

Posted On

2014-11-12