Incidental Mutation 'R2495:Gpx5'
ID 251007
Institutional Source Beutler Lab
Gene Symbol Gpx5
Ensembl Gene ENSMUSG00000004344
Gene Name glutathione peroxidase 5
Synonyms Arep
MMRRC Submission 040409-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2495 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 21286429-21292731 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21291440 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 39 (T39S)
Ref Sequence ENSEMBL: ENSMUSP00000106117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110491]
AlphaFold P21765
Predicted Effect probably benign
Transcript: ENSMUST00000004456
AA Change: T39S

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000004456
Gene: ENSMUSG00000004344
AA Change: T39S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:GSHPx 40 153 8e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110491
AA Change: T39S

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106117
Gene: ENSMUSG00000004344
AA Change: T39S

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:GSHPx 56 169 3.4e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117685
Meta Mutation Damage Score 0.0798 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (63/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the glutathione peroxidase family. It is specifically expressed in the epididymis in the mammalian male reproductive tract, and is androgen-regulated. Unlike several other characterized glutathione peroxidases, this enzyme is not a selenoprotein, lacking the selenocysteine residue. Thus, it is selenium-independent, and has been proposed to play a role in protecting the membranes of spermatozoa from the damaging effects of lipid peroxidation and/or preventing premature acrosome reaction. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2016]
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit age-dependent reduced fertility due to increased sensitivity of sperm DNA to oxidative attack. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T C 3: 36,481,960 F125S unknown Het
Abhd17c C T 7: 84,110,676 W290* probably null Het
Acsl5 A T 19: 55,293,599 K536* probably null Het
Adamts14 A T 10: 61,198,970 probably null Het
Agbl3 A G 6: 34,846,764 H788R probably damaging Het
Agrp T C 8: 105,566,776 N126D possibly damaging Het
Ambn T C 5: 88,467,804 I349T probably benign Het
Ank1 T C 8: 23,132,264 W1610R probably damaging Het
Aox3 T C 1: 58,188,408 L1224P probably damaging Het
Arhgef28 A T 13: 98,029,373 probably benign Het
Bcl11b G A 12: 107,915,447 H798Y possibly damaging Het
Capn11 T A 17: 45,638,763 M426L probably damaging Het
Cep95 A G 11: 106,809,282 K290E possibly damaging Het
Cic A G 7: 25,291,776 probably benign Het
Cnbd1 A T 4: 18,860,579 M389K probably damaging Het
Cnksr1 A T 4: 134,232,162 L387Q probably benign Het
Cntrob G T 11: 69,322,923 P14T probably damaging Het
Crmp1 G A 5: 37,246,097 probably null Het
Dido1 A G 2: 180,689,388 V89A probably benign Het
Dnah7a T A 1: 53,605,881 I999F probably damaging Het
Dsp T A 13: 38,193,477 L1746Q possibly damaging Het
Dst T C 1: 34,199,373 S3897P probably damaging Het
Fbxo10 A G 4: 45,040,545 F887L probably benign Het
Gm21961 T A 15: 65,014,873 H11L unknown Het
Gm4559 A T 7: 142,273,820 C182S unknown Het
Gm5724 C A 6: 141,765,777 M69I probably benign Het
Golga3 T A 5: 110,207,596 S939T probably damaging Het
Got2 A G 8: 95,888,290 S6P possibly damaging Het
Gpatch8 A T 11: 102,478,481 H1410Q probably damaging Het
Grin2b T C 6: 135,733,182 Y1122C probably damaging Het
Gsn A C 2: 35,303,193 N538T probably damaging Het
Helz2 A G 2: 181,232,912 S1930P probably damaging Het
Krt6b A T 15: 101,678,322 F286Y probably damaging Het
Lrriq1 G A 10: 103,202,381 R854C probably damaging Het
Mipol1 A T 12: 57,460,990 probably benign Het
Mmp19 A G 10: 128,790,950 probably benign Het
Msc T G 1: 14,755,249 Y167S probably benign Het
Mycbp2 T G 14: 103,200,118 K2103Q probably damaging Het
Myh11 C A 16: 14,205,557 D1586Y probably damaging Het
Nol6 A T 4: 41,118,427 D791E probably damaging Het
Pcm1 A G 8: 41,293,579 T1272A probably benign Het
Phgdh A G 3: 98,339,789 L15P probably damaging Het
Ptprk A T 10: 28,475,078 probably benign Het
Ralgapa2 G T 2: 146,361,400 D1091E possibly damaging Het
Rbbp8nl C A 2: 180,279,102 K496N probably null Het
Rbm26 T C 14: 105,151,312 probably benign Het
Rfx6 A C 10: 51,726,675 probably benign Het
Rras G A 7: 45,018,064 G17R probably damaging Het
Shisa6 G A 11: 66,217,633 P473S probably damaging Het
Slc9a3 A G 13: 74,158,703 K316E probably damaging Het
Spata31d1a A G 13: 59,701,993 S774P possibly damaging Het
Spsb4 T C 9: 96,995,787 Y161C probably damaging Het
Taf3 G T 2: 9,952,833 N174K probably damaging Het
Tectb C G 19: 55,180,999 probably benign Het
Trnt1 T A 6: 106,773,369 V78E possibly damaging Het
Ubox5 A T 2: 130,599,521 C415* probably null Het
Ucn2 C T 9: 108,986,409 P80S possibly damaging Het
Vmn2r10 G A 5: 108,996,095 T663I probably damaging Het
Wdfy1 A T 1: 79,707,505 F337L probably null Het
Zfp287 A T 11: 62,714,633 C483S probably damaging Het
Zyg11b A G 4: 108,244,724 probably null Het
Other mutations in Gpx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01351:Gpx5 APN 13 21287499 missense probably damaging 1.00
R0233:Gpx5 UTSW 13 21287403 missense probably damaging 1.00
R0233:Gpx5 UTSW 13 21287403 missense probably damaging 1.00
R1836:Gpx5 UTSW 13 21287454 missense probably benign
R2356:Gpx5 UTSW 13 21291368 missense possibly damaging 0.92
R5023:Gpx5 UTSW 13 21288745 missense probably damaging 0.97
R5078:Gpx5 UTSW 13 21288711 missense probably damaging 1.00
R5479:Gpx5 UTSW 13 21292635 missense probably benign
R6166:Gpx5 UTSW 13 21289265 missense probably damaging 1.00
R6370:Gpx5 UTSW 13 21288702 critical splice donor site probably null
R6989:Gpx5 UTSW 13 21287499 missense probably damaging 1.00
R7017:Gpx5 UTSW 13 21291391 missense probably damaging 1.00
R7891:Gpx5 UTSW 13 21288748 missense probably damaging 1.00
R8155:Gpx5 UTSW 13 21288747 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCCATTCTTTGCTGATTTAAGAC -3'
(R):5'- AGCATGGAGTCCCACTTTTCG -3'

Sequencing Primer
(F):5'- TTGCTGATTTAAGACATCAGAGAAG -3'
(R):5'- ATGGAGTCCCACTTTTCGGTTTTC -3'
Posted On 2014-12-04