Incidental Mutation 'R4495:Prdx1'
ID 330923
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 041583-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.643) question?
Stock # R4495 (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 C at 116556416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 188 (V188A)
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: V188A

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102078
Gene: ENSMUSG00000028691
AA Change: V188A

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: V188A

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114159
Gene: ENSMUSG00000028691
AA Change: V188A

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Calcr A T 6: 3,708,484 (GRCm39) probably null Het
Cdh4 T C 2: 179,422,182 (GRCm39) V102A probably damaging Het
Cmya5 T C 13: 93,230,573 (GRCm39) E1505G probably benign Het
Cyp2b9 T A 7: 25,900,180 (GRCm39) D329E probably benign Het
Ddx47 T C 6: 134,998,429 (GRCm39) F375S possibly damaging Het
Dnah7b T G 1: 46,124,792 (GRCm39) S154A probably benign Het
Fry G T 5: 150,233,928 (GRCm39) E133D probably damaging Het
Hydin T C 8: 111,322,034 (GRCm39) L4562P probably damaging Het
Ifnlr1 A T 4: 135,433,079 (GRCm39) E505V probably damaging Het
Igfn1 T C 1: 135,897,416 (GRCm39) E1050G possibly damaging Het
Kidins220 T A 12: 25,088,301 (GRCm39) probably null Het
Klra10 T G 6: 130,256,311 (GRCm39) E114D probably benign Het
Lyst G A 13: 13,809,968 (GRCm39) R546H probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mrgpra3 T C 7: 47,239,813 (GRCm39) I38V probably benign Het
Nfkb2 A G 19: 46,296,878 (GRCm39) D316G probably damaging Het
Nrxn2 A T 19: 6,581,429 (GRCm39) T412S probably benign Het
Or4k37 T A 2: 111,159,365 (GRCm39) N200K probably benign Het
Palm3 C T 8: 84,753,495 (GRCm39) R97C probably damaging Het
Pdcd11 T C 19: 47,099,445 (GRCm39) V848A probably benign Het
Prep T C 10: 44,996,915 (GRCm39) F398L probably benign Het
Prlhr A T 19: 60,455,519 (GRCm39) M349K probably benign Het
Rwdd2b T C 16: 87,231,450 (GRCm39) T235A probably benign Het
Scn1a T C 2: 66,111,146 (GRCm39) probably null Het
Sidt1 C T 16: 44,102,841 (GRCm39) V295M probably damaging Het
Sla T C 15: 66,673,361 (GRCm39) T10A probably benign Het
Slc22a20 A G 19: 6,034,952 (GRCm39) S170P probably benign Het
Syt6 C A 3: 103,494,876 (GRCm39) C280* probably null Het
Thbs2 A G 17: 14,891,675 (GRCm39) I954T probably damaging Het
Tmprss11b T A 5: 86,812,922 (GRCm39) K125* probably null Het
Ugt1a6a T A 1: 88,066,905 (GRCm39) L237H probably damaging Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Wdr53 A G 16: 32,070,969 (GRCm39) T105A probably benign Het
Xkrx T C X: 133,051,745 (GRCm39) N302S possibly damaging Het
Zfp704 T A 3: 9,536,137 (GRCm39) S128C probably benign Het
Zfp759 A G 13: 67,286,989 (GRCm39) probably null Het
Zfyve16 A T 13: 92,625,075 (GRCm39) D1494E probably benign 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
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
R5630:Prdx1 UTSW 4 116,556,414 (GRCm39) missense probably benign 0.00
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'- TGTGGAATTTGGCCAAGATAGG -3'
(R):5'- GGAAGAAAGGCTATCCATCCCC -3'

Sequencing Primer
(F):5'- CCAAGATAGGTCTCACTTGGCTAG -3'
(R):5'- CAGCCCTGTAGGAAAGGCTTATCTG -3'
Posted On 2015-07-21