Incidental Mutation 'R1237:Prdx6b'
ID 152450
Institutional Source Beutler Lab
Gene Symbol Prdx6b
Ensembl Gene ENSMUSG00000050114
Gene Name peroxiredoxin 6B
Synonyms Aop2-rs1, 4930414C22Rik, Prdx6-ps1, 1-cysPrx-P1
MMRRC Submission 039304-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R1237 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 80122816-80125700 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80123520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 110 (I110V)
Ref Sequence ENSEMBL: ENSMUSP00000133276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057072]
AlphaFold Q8BG37
Predicted Effect probably benign
Transcript: ENSMUST00000057072
AA Change: I110V

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000133276
Gene: ENSMUSG00000050114
AA Change: I110V

DomainStartEndE-ValueType
Pfam:Redoxin 6 164 6.9e-10 PFAM
Pfam:AhpC-TSA 7 146 3.7e-30 PFAM
Pfam:1-cysPrx_C 166 205 4.2e-14 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.8%
Validation Efficiency 98% (40/41)
MGI Phenotype FUNCTION: This intronless gene is similar to the multi-exon peroxiredoxin 6 gene located on chromosome 1. It is transcribed and the ORF is intact compared to that of the peroxiredoxin 6 gene. This gene could be considered a transcribed pseudogene based on a failure to detect the protein in vivo in PMID:14644414. However, NCBI is representing the protein due to mass spectrometry data in PMID:18614015, which detected at least one peptide that is specific for this protein. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T C 5: 105,096,223 (GRCm39) T500A probably damaging Het
Amz1 A T 5: 140,727,039 (GRCm39) M1L probably damaging Het
Angptl1 T A 1: 156,686,154 (GRCm39) N413K probably damaging Het
Ankrd13b T C 11: 77,365,400 (GRCm39) T70A probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Ccdc174 C T 6: 91,867,768 (GRCm39) probably benign Het
Ccnc T A 4: 21,730,457 (GRCm39) F31L probably benign Het
Celsr1 A C 15: 85,788,175 (GRCm39) S2692R probably benign Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Ddhd1 A T 14: 45,839,107 (GRCm39) D65E probably benign Het
Dync1h1 A G 12: 110,632,393 (GRCm39) N4504S probably benign Het
Enthd1 A G 15: 80,418,799 (GRCm39) S167P probably damaging Het
Fat1 A T 8: 45,497,316 (GRCm39) Y4267F probably damaging Het
Hectd4 C T 5: 121,459,570 (GRCm39) A813V possibly damaging Het
Ibtk T C 9: 85,602,801 (GRCm39) S735G probably benign Het
Itga4 A G 2: 79,109,490 (GRCm39) I230V probably null Het
Kcnh8 A T 17: 53,200,988 (GRCm39) Q474L probably damaging Het
Kcnh8 G T 17: 53,200,989 (GRCm39) Q474H probably damaging Het
Mib1 C T 18: 10,768,149 (GRCm39) T466I probably damaging Het
Or12d12 T A 17: 37,611,156 (GRCm39) R52S probably benign Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Or2l5 A C 16: 19,334,375 (GRCm39) Y4D probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Prf1 A C 10: 61,139,428 (GRCm39) D462A probably benign Het
Rps6ka5 T C 12: 100,541,964 (GRCm39) D391G possibly damaging Het
Scn7a A T 2: 66,510,639 (GRCm39) N1254K probably damaging Het
Skor2 A T 18: 76,963,827 (GRCm39) K924* probably null Het
Slc22a21 A G 11: 53,870,598 (GRCm39) I29T probably benign Het
Tas2r140 T C 6: 133,032,171 (GRCm39) T196A probably benign Het
Thrap3 A G 4: 126,073,862 (GRCm39) S295P probably benign Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,465,042 (GRCm39) probably benign Het
Ubtd2 C T 11: 32,466,125 (GRCm39) R115W probably damaging Het
Unc93b1 A G 19: 3,985,228 (GRCm39) E12G possibly damaging Het
Vgll3 T A 16: 65,636,459 (GRCm39) Y203* probably null Het
Vmn1r212 G A 13: 23,067,638 (GRCm39) Q232* probably null Het
Vmn2r107 T A 17: 20,576,947 (GRCm39) L315* probably null Het
Vmn2r84 T A 10: 130,223,725 (GRCm39) probably null Het
Washc5 A G 15: 59,210,757 (GRCm39) probably benign Het
Other mutations in Prdx6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Prdx6b APN 2 80,123,539 (GRCm39) missense probably damaging 1.00
IGL01710:Prdx6b APN 2 80,123,490 (GRCm39) missense probably damaging 1.00
R0410:Prdx6b UTSW 2 80,123,373 (GRCm39) missense probably damaging 1.00
R0530:Prdx6b UTSW 2 80,123,659 (GRCm39) missense probably damaging 1.00
R1797:Prdx6b UTSW 2 80,123,546 (GRCm39) missense possibly damaging 0.94
R2136:Prdx6b UTSW 2 80,123,507 (GRCm39) missense probably damaging 0.99
R4707:Prdx6b UTSW 2 80,123,404 (GRCm39) missense probably damaging 1.00
R7440:Prdx6b UTSW 2 80,123,560 (GRCm39) missense probably damaging 0.99
R7565:Prdx6b UTSW 2 80,123,334 (GRCm39) missense probably damaging 0.99
R7724:Prdx6b UTSW 2 80,123,746 (GRCm39) missense probably benign 0.01
R7814:Prdx6b UTSW 2 80,123,304 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- AGAACTTGGTAGAGCTGCAAAGCTG -3'
(R):5'- CCCTTCTTCCAATCAACTGGGGTG -3'

Sequencing Primer
(F):5'- GTGTTGAGGATCATCTTGCCTG -3'
(R):5'- ATCAACTGGGGTGGCAACC -3'
Posted On 2014-01-29