Incidental Mutation 'R5630:Prdx1'
ID 442045
Institutional Source Beutler Lab
Gene Symbol Prdx1
Ensembl Gene ENSMUSG00000028691
Gene Name peroxiredoxin 1
Synonyms Paga, Trx dependent peroxide reductase 2, osteoblast specific factor 3, Prx I, macrophase stress protein 22kDa, macrophage 23kDa stress protein, PAG, Tdpx2, PrxI, thioredoxin dependent peroxide reductase 2, TDX2, OSF-3, MSP23, prx1
MMRRC Submission 043281-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.643) question?
Stock # R5630 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 116542796-116557196 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 116556414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 187 (D187E)
Ref Sequence ENSEMBL: ENSMUSP00000114159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030453] [ENSMUST00000030454] [ENSMUST00000106470] [ENSMUST00000135573]
AlphaFold P35700
Predicted Effect probably benign
Transcript: ENSMUST00000030453
SMART Domains Protein: ENSMUSP00000030453
Gene: ENSMUSG00000028690

DomainStartEndE-ValueType
Pfam:MMACHC 20 234 9.5e-102 PFAM
low complexity region 243 257 N/A INTRINSIC
low complexity region 268 277 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000030454
SMART Domains Protein: ENSMUSP00000030454
Gene: ENSMUSG00000028691

DomainStartEndE-ValueType
Pfam:Redoxin 7 158 1.1e-18 PFAM
Pfam:AhpC-TSA 8 142 9e-44 PFAM
Pfam:1-cysPrx_C 162 176 8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106470
AA Change: D187E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102078
Gene: ENSMUSG00000028691
AA Change: D187E

DomainStartEndE-ValueType
Pfam:Redoxin 7 157 2.7e-17 PFAM
Pfam:AhpC-TSA 8 142 6.1e-42 PFAM
Pfam:1-cysPrx_C 162 197 2.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135573
AA Change: D187E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114159
Gene: ENSMUSG00000028691
AA Change: D187E

DomainStartEndE-ValueType
Pfam:Redoxin 7 158 3.8e-18 PFAM
Pfam:AhpC-TSA 8 142 2.8e-43 PFAM
Pfam:1-cysPrx_C 162 197 2.1e-17 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 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.] This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Four transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mutant mice exhibit defects in antioxidant defense that manifest as hemolytic anemia and malignancies. The phenotype is more severe in homozygous mutant mice which die prematurely. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3s2 A T 7: 79,559,647 (GRCm39) V94E probably damaging Het
Aven T A 2: 112,344,890 (GRCm39) Y109* probably null Het
Cad T C 5: 31,217,917 (GRCm39) S401P probably damaging Het
Ccdc122 A T 14: 77,330,216 (GRCm39) I189F probably damaging Het
Cdkal1 A T 13: 29,961,198 (GRCm39) probably null Het
Clock G A 5: 76,378,185 (GRCm39) P572S probably benign Het
Cnih4 C G 1: 180,989,748 (GRCm39) F120L probably benign Het
Cntnap5b A G 1: 99,999,794 (GRCm39) D184G probably damaging Het
Cpa2 T A 6: 30,550,731 (GRCm39) probably null Het
Cpne5 T C 17: 29,445,190 (GRCm39) D38G probably damaging Het
Dst GGAATCGTGCACTCGAA GGAA 1: 34,227,866 (GRCm39) probably null Het
E330034G19Rik A G 14: 24,358,336 (GRCm39) probably benign Het
Flrt1 A T 19: 7,073,830 (GRCm39) I239N probably damaging Het
Foxb1 T A 9: 69,667,402 (GRCm39) I43F probably damaging Het
Kcnq3 A G 15: 65,896,971 (GRCm39) W310R probably damaging Het
Klrb1a A T 6: 128,595,573 (GRCm39) D60E probably benign Het
Lbr A G 1: 181,644,529 (GRCm39) probably null Het
Lsm8 T A 6: 18,851,672 (GRCm39) I41N probably damaging Het
Mroh7 T C 4: 106,577,764 (GRCm39) M305V possibly damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Or5p4 T A 7: 107,680,323 (GRCm39) F107L probably benign Het
Or8c10 T C 9: 38,279,402 (GRCm39) Y177H probably damaging Het
Or8g20 T A 9: 39,396,247 (GRCm39) M98L probably benign Het
Pcdhb5 A T 18: 37,454,208 (GRCm39) D196V possibly damaging Het
Pcmt1 A G 10: 7,524,857 (GRCm39) Y84H probably damaging Het
Pcnx2 A T 8: 126,587,697 (GRCm39) I877K probably damaging Het
Pcsk5 A G 19: 17,553,195 (GRCm39) Y662H probably benign Het
Ranbp2 T G 10: 58,314,898 (GRCm39) Y1873D probably damaging Het
Rcor2 A T 19: 7,248,416 (GRCm39) R144W probably damaging Het
Rptor T G 11: 119,647,075 (GRCm39) I222S probably benign Het
Rrp8 C A 7: 105,382,608 (GRCm39) R448L possibly damaging Het
Ryr2 A T 13: 11,616,691 (GRCm39) I3909N probably damaging Het
Scn2a T G 2: 65,556,709 (GRCm39) V1147G probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Smox C T 2: 131,366,786 (GRCm39) Q582* probably null Het
Sqor T A 2: 122,651,277 (GRCm39) L180H possibly damaging Het
Stox2 T C 8: 47,644,925 (GRCm39) D845G probably damaging Het
Szt2 T C 4: 118,250,102 (GRCm39) I469V possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tox C CTGGAGT 4: 6,688,835 (GRCm39) probably benign Het
Trgc2 A G 13: 19,489,279 (GRCm39) F151S possibly damaging Het
Upf2 T C 2: 6,032,112 (GRCm39) V141A probably damaging Het
Usp54 A G 14: 20,615,125 (GRCm39) L772P probably damaging Het
Vmn2r83 A T 10: 79,327,785 (GRCm39) T798S possibly damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Zfp143 C T 7: 109,687,980 (GRCm39) T473I probably damaging Het
Other mutations in Prdx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Prdx1 APN 4 116,550,147 (GRCm39) missense probably benign 0.01
IGL00654:Prdx1 APN 4 116,550,162 (GRCm39) missense probably benign 0.03
IGL00769:Prdx1 APN 4 116,550,162 (GRCm39) missense probably benign 0.03
IGL00851:Prdx1 APN 4 116,550,147 (GRCm39) missense probably benign 0.01
IGL02224:Prdx1 APN 4 116,549,064 (GRCm39) missense probably damaging 1.00
R1891:Prdx1 UTSW 4 116,556,451 (GRCm39) makesense probably null
R2568:Prdx1 UTSW 4 116,550,997 (GRCm39) missense probably benign 0.00
R4495:Prdx1 UTSW 4 116,556,416 (GRCm39) missense probably benign 0.13
R4971:Prdx1 UTSW 4 116,549,128 (GRCm39) critical splice donor site probably null
R5610:Prdx1 UTSW 4 116,550,124 (GRCm39) missense probably damaging 1.00
R5828:Prdx1 UTSW 4 116,551,006 (GRCm39) missense probably damaging 1.00
R7861:Prdx1 UTSW 4 116,550,935 (GRCm39) missense probably benign
R8312:Prdx1 UTSW 4 116,556,398 (GRCm39) missense possibly damaging 0.83
Z1176:Prdx1 UTSW 4 116,544,678 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TAGCCTGTGGAATTTGGCC -3'
(R):5'- GAAAGGCTATCCATCCCCAG -3'

Sequencing Primer
(F):5'- CCAAGATAGGTCTCACTTGGCTAG -3'
(R):5'- CAGCCCTGTAGGAAAGGCTTATCTG -3'
Posted On 2016-11-08