Incidental Mutation 'R5227:Pcyox1'
ID 402671
Institutional Source Beutler Lab
Gene Symbol Pcyox1
Ensembl Gene ENSMUSG00000029998
Gene Name prenylcysteine oxidase 1
Synonyms 1200015P13Rik, PCL1, Pcly
MMRRC Submission 042800-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5227 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 86362988-86374132 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 86368726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 264 (A264G)
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: A264G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032065
Gene: ENSMUSG00000029998
AA Change: A264G

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 noncoding transcript
Transcript: ENSMUST00000129650
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 possibly damaging
Transcript: ENSMUST00000153723
AA Change: A195G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119449
Gene: ENSMUSG00000029998
AA Change: A195G

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Prenylcys_lyase 59 181 5.5e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203960
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
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.2%
  • 20x: 97.2%
Validation Efficiency
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
Abcg8 T C 17: 84,999,249 (GRCm39) L115P probably damaging Het
Adgrb3 A C 1: 25,133,033 (GRCm39) M481R possibly damaging Het
Adgrd1 C A 5: 129,199,647 (GRCm39) N161K probably benign Het
Alx4 T A 2: 93,507,725 (GRCm39) V340D probably damaging Het
Arid1a A G 4: 133,407,716 (GRCm39) S2264P unknown Het
Azi2 A T 9: 117,876,526 (GRCm39) H14L probably damaging Het
Camsap2 A G 1: 136,202,629 (GRCm39) probably benign Het
Ccpg1 T A 9: 72,919,354 (GRCm39) L323* probably null Het
Cpsf1 A T 15: 76,483,148 (GRCm39) I943N probably damaging Het
Crebrf T A 17: 26,978,739 (GRCm39) Y476N probably damaging Het
Defb10 T A 8: 22,351,894 (GRCm39) Y46* probably null Het
Dock3 A G 9: 106,863,269 (GRCm39) L703P probably damaging Het
Ebf2 A T 14: 67,484,518 (GRCm39) I181F probably damaging Het
Eif3e T A 15: 43,114,917 (GRCm39) M420L probably benign Het
Emilin3 T A 2: 160,751,185 (GRCm39) Q188L probably damaging Het
Fbxl4 C T 4: 22,376,840 (GRCm39) T92M probably damaging Het
Fer1l6 C T 15: 58,453,752 (GRCm39) Q687* probably null Het
Fkrp T C 7: 16,544,635 (GRCm39) E409G possibly damaging Het
Fzd9 T C 5: 135,278,460 (GRCm39) D475G probably benign Het
Gabbr1 C T 17: 37,380,958 (GRCm39) T767I possibly damaging Het
Gdf2 G A 14: 33,663,451 (GRCm39) probably null Het
Gpatch1 T C 7: 35,008,776 (GRCm39) N82D probably benign Het
Heg1 T A 16: 33,583,961 (GRCm39) L1256Q probably damaging Het
Ireb2 T A 9: 54,803,885 (GRCm39) probably null Het
Kansl1 T G 11: 104,247,640 (GRCm39) H570P probably benign Het
Kcna10 T G 3: 107,101,744 (GRCm39) M125R probably damaging Het
Lrp1b T G 2: 40,741,805 (GRCm39) I3041L possibly damaging Het
Mbtd1 T C 11: 93,815,474 (GRCm39) F354S possibly damaging Het
Mideas A T 12: 84,199,661 (GRCm39) F1020I probably benign Het
Mov10 T C 3: 104,709,894 (GRCm39) T331A probably benign Het
Ms4a8a A T 19: 11,045,780 (GRCm39) S243T probably damaging Het
Ndufa11 T C 17: 57,024,867 (GRCm39) S10P probably benign Het
Olfml3 A G 3: 103,643,737 (GRCm39) Y215H possibly damaging Het
Or2t45 T A 11: 58,669,705 (GRCm39) F251I possibly damaging Het
Or56b2j A G 7: 104,353,529 (GRCm39) I252V possibly damaging Het
Pclo T C 5: 14,763,574 (GRCm39) S4016P probably benign Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Pnisr A G 4: 21,874,587 (GRCm39) probably benign Het
Prc1 T C 7: 79,962,927 (GRCm39) S574P probably damaging Het
Ranbp3l T A 15: 9,037,186 (GRCm39) V16D probably damaging Het
Rfx1 T C 8: 84,800,687 (GRCm39) V96A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfmbt1 T C 14: 30,537,211 (GRCm39) probably null Het
Siglecf T C 7: 43,001,364 (GRCm39) Y111H probably damaging Het
Snx14 G A 9: 88,280,347 (GRCm39) T536I possibly damaging Het
Spindoc A G 19: 7,351,512 (GRCm39) V204A probably benign Het
Sptbn5 A G 2: 119,915,812 (GRCm39) probably benign Het
Swt1 G A 1: 151,278,727 (GRCm39) Q227* probably null Het
Tg A G 15: 66,631,416 (GRCm39) I562V possibly damaging Het
Trip11 T A 12: 101,851,179 (GRCm39) I677F probably damaging Het
Vmn1r49 G A 6: 90,049,753 (GRCm39) T83I probably benign Het
Vmn1r90 T C 7: 14,295,601 (GRCm39) K166E possibly damaging Het
Vmn2r124 T C 17: 18,269,819 (GRCm39) I25T possibly damaging Het
Vps13d A T 4: 144,907,777 (GRCm39) probably null Het
Zfp106 T C 2: 120,354,449 (GRCm39) I170V probably benign 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
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
R9296:Pcyox1 UTSW 6 86,368,735 (GRCm39) missense probably damaging 1.00
R9301:Pcyox1 UTSW 6 86,369,241 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- TGGAACTTGACATCAAATCTCCAC -3'
(R):5'- GGGGCAGAGTATCTAAGTGGTC -3'

Sequencing Primer
(F):5'- CTAGTCCACACAGTGAGTTCTAGG -3'
(R):5'- TCAGGAGAGAGTGATTTACCTGACC -3'
Posted On 2016-07-22