Mutagenetix > Incidental Mutation

Incidental Mutation 'R7047:Pcyox1'

547369

Institutional Source

Beutler Lab

Gene Symbol

Pcyox1

Ensembl Gene

ENSMUSG00000029998

Gene Name

prenylcysteine oxidase 1

Synonyms

1200015P13Rik, PCL1, Pcly

MMRRC Submission

045145-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86362988-86374132 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 86365891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 441 (P441H)

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: P441H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032065
Gene: ENSMUSG00000029998
AA Change: P441H

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Prenylcys_lyase	1	73	6.1e-25	PFAM
Pfam:Prenylcys_lyase	69	197	7.1e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153723

SMART Domains

Protein: ENSMUSP00000119449
Gene: ENSMUSG00000029998

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (53/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,382,131 (GRCm39)	I1278N	possibly damaging	Het
Adcy5	T	A	16: 35,087,585 (GRCm39)	L482Q	probably damaging	Het
Adora2a	A	G	10: 75,162,145 (GRCm39)	I95V	probably damaging	Het
Anapc1	A	C	2: 128,457,350 (GRCm39)	C1887G	probably damaging	Het
Arfgef2	T	A	2: 166,693,865 (GRCm39)		probably null	Het
Capn11	G	T	17: 45,949,622 (GRCm39)	S448*	probably null	Het
Capn7	C	T	14: 31,058,642 (GRCm39)		probably benign	Het
Cep55	T	A	19: 38,048,539 (GRCm39)	V65D	possibly damaging	Het
Col5a1	A	G	2: 27,818,096 (GRCm39)	K107R	unknown	Het
Dbh	T	A	2: 27,055,622 (GRCm39)	I32N	possibly damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dzip3	A	T	16: 48,802,489 (GRCm39)	N13K	probably benign	Het
Emilin1	A	G	5: 31,074,422 (GRCm39)	N221S	probably benign	Het
Ext2	A	G	2: 93,570,002 (GRCm39)	F470L	probably damaging	Het
Filip1	T	A	9: 79,760,916 (GRCm39)	Q206L	probably damaging	Het
Garin1b	T	A	6: 29,323,809 (GRCm39)	L178H	probably damaging	Het
Gpr63	G	T	4: 25,007,320 (GRCm39)	A15S	probably benign	Het
Grhl3	T	C	4: 135,276,551 (GRCm39)		probably null	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Ift172	G	T	5: 31,433,238 (GRCm39)	Y193*	probably null	Het
Ints1	A	C	5: 139,744,226 (GRCm39)	L1512*	probably null	Het
Kat2b	A	G	17: 53,970,597 (GRCm39)	Q661R	probably benign	Het
Kat6a	A	G	8: 23,428,554 (GRCm39)	N1303S	possibly damaging	Het
L3mbtl4	G	T	17: 68,768,561 (GRCm39)	R223L	probably benign	Het
Maml2	T	C	9: 13,532,177 (GRCm39)		probably benign	Het
Mixl1	A	G	1: 180,524,183 (GRCm39)		probably null	Het
Mocs1	T	C	17: 49,759,887 (GRCm39)		probably null	Het
Ms4a15	T	G	19: 10,962,236 (GRCm39)	N36T	probably damaging	Het
Msr1	G	A	8: 40,095,657 (GRCm39)	T2I	possibly damaging	Het
Nlgn1	A	C	3: 25,490,199 (GRCm39)	Y509*	probably null	Het
Nsmce1	C	A	7: 125,090,606 (GRCm39)	G4C	probably benign	Het
Or4c113	A	T	2: 88,885,490 (GRCm39)	F93L	probably damaging	Het
Or51v15-ps1	A	G	7: 103,278,918 (GRCm39)	V83A	probably damaging	Het
Pan3	G	A	5: 147,483,175 (GRCm39)	G452D	probably damaging	Het
Phf12	T	C	11: 77,904,099 (GRCm39)	V273A	probably damaging	Het
Plcd4	A	G	1: 74,591,148 (GRCm39)	E181G	possibly damaging	Het
Ptgfr	A	T	3: 151,541,178 (GRCm39)	I110N	possibly damaging	Het
Rab40c	A	C	17: 26,138,458 (GRCm39)	V8G	probably damaging	Het
Rasal3	T	A	17: 32,615,458 (GRCm39)	Y460F	probably damaging	Het
Rhbdf2	A	G	11: 116,494,477 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,839,286 (GRCm39)	N496Y	possibly damaging	Het
Sacs	A	T	14: 61,450,451 (GRCm39)	I4166F	probably damaging	Het
Sh2d3c	T	C	2: 32,611,172 (GRCm39)	M1T	probably null	Het
Smarca2	C	T	19: 26,646,555 (GRCm39)	S651L	possibly damaging	Het
Sned1	A	T	1: 93,213,540 (GRCm39)	R1204S	possibly damaging	Het
Spata31d1b	T	C	13: 59,860,249 (GRCm39)	Y41H	probably damaging	Het
Stab2	C	T	10: 86,694,016 (GRCm39)	C2075Y	probably damaging	Het
Tcte1	A	T	17: 45,844,294 (GRCm39)	Q90L	possibly damaging	Het
Tll2	C	T	19: 41,074,679 (GRCm39)	G945S	probably damaging	Het
Tmbim7	A	T	5: 3,720,112 (GRCm39)	T116S	probably benign	Het
Tnfrsf19	A	T	14: 61,242,667 (GRCm39)	C72*	probably null	Het
Usp17le	T	A	7: 104,417,640 (GRCm39)	T501S	probably benign	Het
Wnt5b	T	A	6: 119,425,217 (GRCm39)		probably benign	Het

Other mutations in Pcyox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AGCCTTTCATACAGGTCGTC -3'
(R):5'- TCGGCAATTCTTGTCACTGATG -3'

Sequencing Primer
(F):5'- AGGTCGTCCTGATCAATCATG -3'
(R):5'- AACAGTCTGTCCATTGTGGC -3'

Posted On

2019-05-13