Incidental Mutation 'R9296:Pcyox1'
ID 704599
Institutional Source Beutler Lab
Gene Symbol Pcyox1
Ensembl Gene ENSMUSG00000029998
Gene Name prenylcysteine oxidase 1
Synonyms 1200015P13Rik, PCL1, Pcly
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9296 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 86362988-86374132 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86368735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 261 (L261P)
Ref Sequence ENSEMBL: ENSMUSP00000032065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032065] [ENSMUST00000153723] [ENSMUST00000204116]
AlphaFold Q9CQF9
Predicted Effect probably damaging
Transcript: ENSMUST00000032065
AA Change: L261P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032065
Gene: ENSMUSG00000029998
AA Change: L261P

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:NAD_binding_8 39 106 8.2e-13 PFAM
Pfam:Amino_oxidase 44 346 7.1e-9 PFAM
Pfam:Prenylcys_lyase 128 501 8.1e-157 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131500
SMART Domains Protein: ENSMUSP00000122602
Gene: ENSMUSG00000029998

DomainStartEndE-ValueType
Pfam:Prenylcys_lyase 1 73 6.1e-25 PFAM
Pfam:Prenylcys_lyase 69 197 7.1e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153723
AA Change: L192P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119449
Gene: ENSMUSG00000029998
AA Change: L192P

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Prenylcys_lyase 59 181 5.5e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204116
SMART Domains Protein: ENSMUSP00000145474
Gene: ENSMUSG00000029998

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:NAD_binding_8 39 106 4.9e-12 PFAM
Pfam:Amino_oxidase 44 136 3.3e-7 PFAM
Meta Mutation Damage Score 0.9494 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Prenylcysteine is released during the degradation of prenylated proteins. PCYOX1 catalyzes the degradation of prenylcysteine to yield free cysteines and a hydrophobic isoprenoid product (Tschantz et al., 1999 [PubMed 10585463]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and free of obvious pathology despite a striking accumulation of both farnesylcysteine and geranylgeranylcysteine in brain and liver. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxr1 T G 6: 87,114,409 (GRCm39) probably benign Het
Aox1 A T 1: 58,124,612 (GRCm39) Y951F probably damaging Het
Arhgap44 G T 11: 64,957,933 (GRCm39) A83E probably damaging Het
Bmpr2 T C 1: 59,906,502 (GRCm39) S532P probably damaging Het
Brd7 T C 8: 89,059,560 (GRCm39) I617V possibly damaging Het
Brsk2 A C 7: 141,552,375 (GRCm39) S620R probably benign Het
C3 T C 17: 57,511,291 (GRCm39) M1604V probably benign Het
Cacna2d1 G A 5: 16,564,068 (GRCm39) R917H probably damaging Het
Ccdc17 T A 4: 116,456,586 (GRCm39) F452I probably damaging Het
Cfap221 T C 1: 119,883,467 (GRCm39) I235V probably null Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Ciita G A 16: 10,321,812 (GRCm39) probably null Het
Cxcl10 T C 5: 92,495,997 (GRCm39) K47E probably damaging Het
Cyp2d12 C T 15: 82,440,435 (GRCm39) Q75* probably null Het
Cyp4f18 C T 8: 72,756,301 (GRCm39) V92M probably benign Het
D930020B18Rik A G 10: 121,497,011 (GRCm39) R149G possibly damaging Het
Dlgap4 G T 2: 156,546,514 (GRCm39) R394L possibly damaging Het
Dmtf1 A C 5: 9,190,467 (GRCm39) D82E probably benign Het
Dnah1 T C 14: 30,996,011 (GRCm39) probably null Het
Eps15 T G 4: 109,173,089 (GRCm39) D183E possibly damaging Het
Fbln5 A T 12: 101,780,853 (GRCm39) I7K probably benign Het
Fermt3 C T 19: 6,980,865 (GRCm39) E289K possibly damaging Het
Gm10762 T A 2: 128,809,149 (GRCm39) R67W unknown Het
Gm5089 A G 14: 122,673,554 (GRCm39) S56P unknown Het
H2-T5 C T 17: 36,479,169 (GRCm39) G27R unknown Het
Itih1 A G 14: 30,653,251 (GRCm39) F730L probably benign Het
Macf1 T C 4: 123,400,246 (GRCm39) H683R probably damaging Het
Mapk3 T A 7: 126,363,518 (GRCm39) F297L Het
Mfap3l G A 8: 61,124,615 (GRCm39) V286I possibly damaging Het
Myh4 A G 11: 67,146,130 (GRCm39) K1396R possibly damaging Het
Mylk3 A T 8: 86,085,561 (GRCm39) S324R probably benign Het
Ndufv3 T C 17: 31,739,197 (GRCm39) S4P probably benign Het
Nebl A T 2: 17,429,451 (GRCm39) probably benign Het
Nol4 A T 18: 22,956,388 (GRCm39) S119T Het
Or6k4 A T 1: 173,964,835 (GRCm39) H175L probably benign Het
Pcdhgb4 T A 18: 37,853,777 (GRCm39) S57R probably benign Het
Plekhm3 G T 1: 64,961,639 (GRCm39) H206N probably benign Het
Polr2a T C 11: 69,625,562 (GRCm39) T1863A probably benign Het
Prl7c1 T A 13: 27,962,812 (GRCm39) I64L probably benign Het
Psg17 A T 7: 18,553,991 (GRCm39) N86K probably benign Het
Rab37 A G 11: 115,045,065 (GRCm39) E14G probably benign Het
Rad54l2 T A 9: 106,579,942 (GRCm39) K976N probably damaging Het
Rnf213 A T 11: 119,334,621 (GRCm39) probably benign Het
Sdha A T 13: 74,472,062 (GRCm39) D602E probably damaging Het
Slc22a30 T A 19: 8,364,119 (GRCm39) T186S probably benign Het
Slc22a4 A T 11: 53,888,217 (GRCm39) C270* probably null Het
Slc6a4 T C 11: 76,909,110 (GRCm39) V374A probably benign Het
Spg11 T C 2: 121,945,175 (GRCm39) D115G probably benign Het
Susd1 T C 4: 59,427,865 (GRCm39) probably benign Het
Tor1a A T 2: 30,851,104 (GRCm39) M286K probably damaging Het
Trim12c G T 7: 103,994,185 (GRCm39) A223D Het
Usp32 A G 11: 84,908,478 (GRCm39) I1076T probably damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vmn2r101 G A 17: 19,810,047 (GRCm39) D278N probably damaging Het
Zan C T 5: 137,387,138 (GRCm39) V4972I unknown Het
Other mutations in Pcyox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01722:Pcyox1 APN 6 86,365,735 (GRCm39) missense probably damaging 1.00
IGL02008:Pcyox1 APN 6 86,369,250 (GRCm39) missense probably benign 0.01
IGL02655:Pcyox1 APN 6 86,366,326 (GRCm39) missense probably damaging 1.00
R0690:Pcyox1 UTSW 6 86,371,424 (GRCm39) missense probably damaging 1.00
R4631:Pcyox1 UTSW 6 86,366,212 (GRCm39) missense possibly damaging 0.96
R4631:Pcyox1 UTSW 6 86,366,125 (GRCm39) missense probably benign 0.00
R4976:Pcyox1 UTSW 6 86,365,708 (GRCm39) missense probably damaging 1.00
R5227:Pcyox1 UTSW 6 86,368,726 (GRCm39) missense probably damaging 0.98
R5288:Pcyox1 UTSW 6 86,369,336 (GRCm39) splice site probably null
R5408:Pcyox1 UTSW 6 86,369,280 (GRCm39) missense probably damaging 1.00
R5862:Pcyox1 UTSW 6 86,368,656 (GRCm39) critical splice donor site probably null
R6002:Pcyox1 UTSW 6 86,369,164 (GRCm39) missense probably benign 0.02
R6123:Pcyox1 UTSW 6 86,365,910 (GRCm39) missense possibly damaging 0.88
R6290:Pcyox1 UTSW 6 86,365,881 (GRCm39) missense probably benign 0.24
R6766:Pcyox1 UTSW 6 86,371,390 (GRCm39) critical splice donor site probably null
R7047:Pcyox1 UTSW 6 86,365,891 (GRCm39) missense probably damaging 1.00
R7066:Pcyox1 UTSW 6 86,371,478 (GRCm39) missense probably damaging 1.00
R7139:Pcyox1 UTSW 6 86,371,519 (GRCm39) missense possibly damaging 0.50
R7268:Pcyox1 UTSW 6 86,368,713 (GRCm39) missense possibly damaging 0.69
R7445:Pcyox1 UTSW 6 86,368,661 (GRCm39) missense possibly damaging 0.83
R7870:Pcyox1 UTSW 6 86,369,323 (GRCm39) missense probably damaging 1.00
R8050:Pcyox1 UTSW 6 86,366,128 (GRCm39) missense possibly damaging 0.88
R8253:Pcyox1 UTSW 6 86,366,044 (GRCm39) missense probably benign
R9301:Pcyox1 UTSW 6 86,369,241 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- TGGAACTTGACATCAAATCTCCAC -3'
(R):5'- AGGCATTTGGGGCAGAGTATC -3'

Sequencing Primer
(F):5'- CTAGTCCACACAGTGAGTTCTAGG -3'
(R):5'- GGGCAGAGTATCTAAGTGGTC -3'
Posted On 2022-03-25