Incidental Mutation 'R5105:Gpx3'
ID 401994
Institutional Source Beutler Lab
Gene Symbol Gpx3
Ensembl Gene ENSMUSG00000018339
Gene Name glutathione peroxidase 3
Synonyms extracellular GPx, GPx, EGPx, plasma GPx
MMRRC Submission 042693-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R5105 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 54793680-54801213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54797980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 39 (T39S)
Ref Sequence ENSEMBL: ENSMUSP00000119882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018482] [ENSMUST00000082430] [ENSMUST00000102730] [ENSMUST00000102731] [ENSMUST00000108885] [ENSMUST00000108886] [ENSMUST00000149324] [ENSMUST00000125094] [ENSMUST00000108889]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000018482
SMART Domains Protein: ENSMUSP00000018482
Gene: ENSMUSG00000020400

DomainStartEndE-ValueType
coiled coil region 42 71 N/A INTRINSIC
low complexity region 102 115 N/A INTRINSIC
coiled coil region 215 266 N/A INTRINSIC
low complexity region 284 296 N/A INTRINSIC
SCOP:d1bg1a1 342 511 2e-4 SMART
low complexity region 519 543 N/A INTRINSIC
low complexity region 560 577 N/A INTRINSIC
low complexity region 586 599 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000082430
AA Change: T39S

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000081011
Gene: ENSMUSG00000018339
AA Change: T39S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:GSHPx 40 153 4.8e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102730
SMART Domains Protein: ENSMUSP00000099791
Gene: ENSMUSG00000020400

DomainStartEndE-ValueType
coiled coil region 42 71 N/A INTRINSIC
low complexity region 102 115 N/A INTRINSIC
coiled coil region 215 266 N/A INTRINSIC
low complexity region 284 296 N/A INTRINSIC
SCOP:d1bg1a1 342 511 3e-4 SMART
low complexity region 519 543 N/A INTRINSIC
low complexity region 560 577 N/A INTRINSIC
low complexity region 586 599 N/A INTRINSIC
low complexity region 627 640 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102731
SMART Domains Protein: ENSMUSP00000099792
Gene: ENSMUSG00000020400

DomainStartEndE-ValueType
coiled coil region 42 71 N/A INTRINSIC
low complexity region 102 115 N/A INTRINSIC
coiled coil region 215 266 N/A INTRINSIC
low complexity region 284 296 N/A INTRINSIC
SCOP:d1bg1a1 342 511 2e-4 SMART
low complexity region 519 543 N/A INTRINSIC
low complexity region 560 577 N/A INTRINSIC
low complexity region 586 599 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108885
SMART Domains Protein: ENSMUSP00000104513
Gene: ENSMUSG00000020400

DomainStartEndE-ValueType
low complexity region 49 62 N/A INTRINSIC
coiled coil region 162 213 N/A INTRINSIC
low complexity region 231 243 N/A INTRINSIC
SCOP:d1bg1a1 289 458 5e-4 SMART
low complexity region 466 490 N/A INTRINSIC
low complexity region 507 524 N/A INTRINSIC
low complexity region 533 546 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108886
SMART Domains Protein: ENSMUSP00000104514
Gene: ENSMUSG00000020400

DomainStartEndE-ValueType
low complexity region 49 62 N/A INTRINSIC
coiled coil region 162 213 N/A INTRINSIC
low complexity region 231 243 N/A INTRINSIC
SCOP:d1bg1a1 289 458 5e-4 SMART
low complexity region 466 490 N/A INTRINSIC
low complexity region 507 524 N/A INTRINSIC
low complexity region 533 546 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000149324
AA Change: T39S

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119882
Gene: ENSMUSG00000018339
AA Change: T39S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:GSHPx 40 83 1e-13 PFAM
Pfam:GSHPx 99 185 7.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125094
AA Change: T39S

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000119165
Gene: ENSMUSG00000018339
AA Change: T39S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:GSHPx 40 153 1.6e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124304
Predicted Effect probably benign
Transcript: ENSMUST00000108889
SMART Domains Protein: ENSMUSP00000104517
Gene: ENSMUSG00000020400

DomainStartEndE-ValueType
coiled coil region 42 71 N/A INTRINSIC
low complexity region 102 115 N/A INTRINSIC
coiled coil region 215 266 N/A INTRINSIC
low complexity region 284 296 N/A INTRINSIC
SCOP:d1bg1a1 342 511 2e-4 SMART
low complexity region 519 543 N/A INTRINSIC
low complexity region 560 577 N/A INTRINSIC
low complexity region 586 599 N/A INTRINSIC
Meta Mutation Damage Score 0.1046 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 96% (52/54)
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is secreted and is highly expressed in mouse kidney, which appears to be the major source of the enzyme in plasma. It has a role in mouse organogenesis, and dysregulation of this isozyme has been associated with obesity-related metabolic complications, platelet-dependent thrombosis, colitis-associated carcinoma, and thermosensitive phenotype. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced glutathione peroxidase activity, increase plasma selenium levels when mice are fed a selenium supplemented diet, and reduced kidney selenium levels regardless of selenium supplementation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btbd8 T G 5: 107,658,337 (GRCm39) S1124A possibly damaging Het
Camsap1 A G 2: 25,830,941 (GRCm39) S445P probably damaging Het
Ccdc92 G A 5: 124,912,858 (GRCm39) P224S probably damaging Het
Cep135 T C 5: 76,741,939 (GRCm39) V125A probably benign Het
Cep192 T A 18: 67,999,612 (GRCm39) C2159S probably benign Het
Col1a1 G T 11: 94,833,211 (GRCm39) R404L unknown Het
Col6a3 A T 1: 90,725,862 (GRCm39) M1382K possibly damaging Het
Cyp4a12b T C 4: 115,290,958 (GRCm39) S329P probably damaging Het
Dclk1 T G 3: 55,163,360 (GRCm39) S151A probably benign Het
Ddhd1 A T 14: 45,894,864 (GRCm39) V202E probably benign Het
Dlx6 AGG AG 6: 6,865,180 (GRCm39) probably null Het
Dnah10 A G 5: 124,888,546 (GRCm39) E3050G probably benign Het
Dync1h1 T A 12: 110,584,366 (GRCm39) F590I probably damaging Het
Eif4b T C 15: 101,992,631 (GRCm39) Y63H probably benign Het
Fscb T C 12: 64,520,110 (GRCm39) E452G possibly damaging Het
Grin2b T A 6: 135,709,439 (GRCm39) Y1369F probably benign Het
Kank4 A T 4: 98,667,396 (GRCm39) N350K probably benign Het
Kdm5d A G Y: 941,752 (GRCm39) K1318E probably benign Het
Large1 A T 8: 73,578,872 (GRCm39) Y444* probably null Het
Lhx3 TCCTACGGGCCGGCCC TCC 2: 26,091,435 (GRCm39) probably null Het
Lrrc47 A G 4: 154,096,673 (GRCm39) Q156R probably damaging Het
Lrriq4 T C 3: 30,704,632 (GRCm39) L220P probably damaging Het
Matn2 A G 15: 34,355,814 (GRCm39) D273G possibly damaging Het
Myo18b T A 5: 112,988,644 (GRCm39) I981F probably damaging Het
Or1q1 G A 2: 36,887,469 (GRCm39) probably null Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or5aq1 A G 2: 86,966,554 (GRCm39) I37T probably benign Het
Or6b13 A G 7: 139,782,462 (GRCm39) Y74H probably damaging Het
Or8d6 T C 9: 39,853,694 (GRCm39) V46A probably benign Het
Pkdrej T C 15: 85,700,585 (GRCm39) T1784A probably damaging Het
Ppp3cb A G 14: 20,559,490 (GRCm39) V422A possibly damaging Het
Rlf G A 4: 121,007,564 (GRCm39) T472I probably damaging Het
Scaf11 T C 15: 96,318,313 (GRCm39) E417G probably damaging Het
Shisa2 A T 14: 59,867,263 (GRCm39) T172S possibly damaging Het
Siglec1 T A 2: 130,922,320 (GRCm39) Q585L possibly damaging Het
Sorcs1 A T 19: 50,213,579 (GRCm39) M716K possibly damaging Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Stxbp5l C A 16: 36,962,734 (GRCm39) V774F probably benign Het
Tcaf3 A G 6: 42,568,259 (GRCm39) F699S probably damaging Het
Tmem87b T C 2: 128,673,509 (GRCm39) V251A probably damaging Het
Trpc6 T A 9: 8,649,471 (GRCm39) N560K probably benign Het
Trpv4 T A 5: 114,764,981 (GRCm39) I678F probably damaging Het
Ttc3 A T 16: 94,267,793 (GRCm39) H1935L possibly damaging Het
Vmn2r59 T A 7: 41,696,529 (GRCm39) Y71F probably benign Het
Wdfy3 A G 5: 102,003,415 (GRCm39) I2900T probably damaging Het
Zfp184 A G 13: 22,143,799 (GRCm39) T502A possibly damaging Het
Zmym6 A G 4: 127,017,551 (GRCm39) I1019V probably benign Het
Other mutations in Gpx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02125:Gpx3 APN 11 54,798,068 (GRCm39) missense probably damaging 1.00
IGL02600:Gpx3 APN 11 54,800,433 (GRCm39) missense possibly damaging 0.84
R0589:Gpx3 UTSW 11 54,800,329 (GRCm39) missense probably benign 0.00
R0969:Gpx3 UTSW 11 54,799,852 (GRCm39) splice site probably benign
R1344:Gpx3 UTSW 11 54,800,422 (GRCm39) missense probably damaging 0.99
R1418:Gpx3 UTSW 11 54,800,422 (GRCm39) missense probably damaging 0.99
R5390:Gpx3 UTSW 11 54,800,375 (GRCm39) missense probably damaging 0.98
R6476:Gpx3 UTSW 11 54,798,025 (GRCm39) missense probably damaging 1.00
R8494:Gpx3 UTSW 11 54,793,846 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TACTGGGTCCTCAAGTATCTCAG -3'
(R):5'- CCAAAAGACAGAGTTGGGTCC -3'

Sequencing Primer
(F):5'- GAATTAGGAGACCTCAGGTTTAGTCC -3'
(R):5'- GGTCCAGATTTAGTAGCAAGTCC -3'
Posted On 2016-07-22