Mutagenetix > Incidental Mutation

Incidental Mutation 'R8050:Pcyox1'

618993

Institutional Source

Beutler Lab

Gene Symbol

Pcyox1

Ensembl Gene

ENSMUSG00000029998

Gene Name

prenylcysteine oxidase 1

Synonyms

1200015P13Rik, PCL1, Pcly

MMRRC Submission

067487-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8050 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86362988-86374132 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86366128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 362 (K362M)

Ref Sequence

ENSEMBL: ENSMUSP00000032065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032065] [ENSMUST00000153723] [ENSMUST00000204116]

AlphaFold

Q9CQF9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032065
AA Change: K362M

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032065
Gene: ENSMUSG00000029998
AA Change: K362M

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

SMART Domains

Protein: ENSMUSP00000122602
Gene: ENSMUSG00000029998
AA Change: K144M

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: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,677 (GRCm39)	V194E	possibly damaging	Het
Adgrv1	T	C	13: 81,561,296 (GRCm39)	N5406S	probably damaging	Het
Arhgef38	T	A	3: 132,843,323 (GRCm39)	R416*	probably null	Het
Asb7	T	A	7: 66,328,932 (GRCm39)	Q36L	probably benign	Het
Bbof1	G	A	12: 84,457,991 (GRCm39)	M85I	probably benign	Het
Bin1	T	G	18: 32,539,198 (GRCm39)	F44V	probably damaging	Het
Bnc2	C	A	4: 84,210,573 (GRCm39)	V599L	probably benign	Het
Bnip3l	A	G	14: 67,226,651 (GRCm39)	S181P	probably damaging	Het
Btnl9	A	G	11: 49,066,442 (GRCm39)	L374P	probably benign	Het
Cd109	T	C	9: 78,571,633 (GRCm39)	I424T	probably benign	Het
Cdhr2	G	A	13: 54,882,035 (GRCm39)	V1162M	probably damaging	Het
Dgkb	G	A	12: 38,174,216 (GRCm39)	E181K	probably benign	Het
Dnase1	A	T	16: 3,855,861 (GRCm39)	D64V	probably damaging	Het
E130308A19Rik	T	C	4: 59,719,767 (GRCm39)	I433T	probably damaging	Het
Ecsit	C	T	9: 21,987,592 (GRCm39)	R149H	probably benign	Het
Eif1ad8	G	A	12: 87,563,911 (GRCm39)	R82Q	possibly damaging	Het
Enpep	A	T	3: 129,099,165 (GRCm39)	V437E	probably damaging	Het
Esrp1	A	T	4: 11,338,767 (GRCm39)	V679D	probably damaging	Het
Fa2h	T	A	8: 112,074,817 (GRCm39)		probably null	Het
Fabp1	G	A	6: 71,176,956 (GRCm39)	E16K	probably damaging	Het
Fstl5	T	A	3: 76,614,810 (GRCm39)	S624T	probably benign	Het
Gemin5	G	A	11: 58,019,686 (GRCm39)	R1128W	probably benign	Het
H2bc8	T	C	13: 23,755,841 (GRCm39)	S79P	probably damaging	Het
Hps3	T	C	3: 20,057,492 (GRCm39)	H896R	probably benign	Het
Hsf1	T	A	15: 76,382,481 (GRCm39)	I284K	probably benign	Het
Igkv3-2	T	A	6: 70,675,988 (GRCm39)	I99N	probably damaging	Het
Iqub	T	A	6: 24,503,784 (GRCm39)	I163F	possibly damaging	Het
Jak2	T	C	19: 29,275,732 (GRCm39)	I724T	probably damaging	Het
Kbtbd3	A	T	9: 4,330,408 (GRCm39)	T261S	probably benign	Het
Kctd20	G	T	17: 29,171,732 (GRCm39)		probably null	Het
Kif28	C	T	1: 179,537,014 (GRCm39)	V490M	probably benign	Het
Kif9	T	C	9: 110,348,208 (GRCm39)	L677P	probably damaging	Het
Klhl18	T	C	9: 110,257,829 (GRCm39)	Y537C	probably damaging	Het
Mmut	T	A	17: 41,254,784 (GRCm39)	I331K	probably benign	Het
Myo5a	T	A	9: 75,089,228 (GRCm39)	S1119R	probably damaging	Het
Napepld	C	A	5: 21,870,319 (GRCm39)	E366D	probably benign	Het
Nbea	A	G	3: 55,895,402 (GRCm39)	V1540A	probably damaging	Het
Neb	T	A	2: 52,111,738 (GRCm39)	I130L	probably benign	Het
Opcml	T	C	9: 28,724,640 (GRCm39)	V146A	probably damaging	Het
Or2g7	T	C	17: 38,378,370 (GRCm39)	S103P	probably damaging	Het
Or2r11	A	T	6: 42,437,764 (GRCm39)	L63H	probably damaging	Het
Or7e178	C	T	9: 20,225,941 (GRCm39)	D92N	probably damaging	Het
Pappa2	A	C	1: 158,675,970 (GRCm39)	C925W	probably damaging	Het
Parp12	T	A	6: 39,066,038 (GRCm39)	N562Y	probably damaging	Het
Patj	C	A	4: 98,427,201 (GRCm39)	H1198Q	probably benign	Het
Pcyt2	T	C	11: 120,501,765 (GRCm39)	Y350C	probably benign	Het
Pkd1	A	T	17: 24,784,617 (GRCm39)	T388S	probably benign	Het
Prl3d1	T	A	13: 27,284,011 (GRCm39)	Y193*	probably null	Het
Psme1	A	T	14: 55,817,056 (GRCm39)	D15V	possibly damaging	Het
Qrsl1	G	A	10: 43,750,631 (GRCm39)	R476C	probably damaging	Het
Ranbp2	A	G	10: 58,315,441 (GRCm39)	N2054D	probably damaging	Het
Serpinb1c	T	A	13: 33,066,052 (GRCm39)	K298*	probably null	Het
Slc22a27	A	T	19: 7,857,532 (GRCm39)	M355K	probably benign	Het
Spp1	T	A	5: 104,588,280 (GRCm39)	H227Q	probably benign	Het
Stam2	T	A	2: 52,609,785 (GRCm39)	N75I	probably damaging	Het
Tacc1	T	C	8: 25,659,230 (GRCm39)	T579A	probably benign	Het
Tbx3	A	G	5: 119,821,132 (GRCm39)	D734G	probably benign	Het
Tmem233	G	T	5: 116,221,141 (GRCm39)	S35*	probably null	Het
Trim43c	A	T	9: 88,722,390 (GRCm39)	E12V	probably damaging	Het
Trio	A	G	15: 27,891,540 (GRCm39)	S463P	unknown	Het
Uggt2	A	T	14: 119,263,834 (GRCm39)	D1065E	probably damaging	Het
Usp1	A	G	4: 98,817,150 (GRCm39)	N114S	probably benign	Het
Usp34	A	G	11: 23,396,787 (GRCm39)	E2377G		Het
Virma	T	A	4: 11,528,643 (GRCm39)	H1243Q	probably benign	Het
Vmn2r3	A	T	3: 64,178,714 (GRCm39)	V517D	probably damaging	Het
Zfp931	T	C	2: 177,709,889 (GRCm39)	K166E	probably damaging	Het
Zp3	T	A	5: 136,011,604 (GRCm39)	Y141N	probably damaging	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
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
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'- ATGGCTTCCGCACAGCATAATC -3'
(R):5'- CAGGATCTGAGACCCATTCTG -3'

Sequencing Primer
(F):5'- GCTTCCGCACAGCATAATCATAGG -3'
(R):5'- AGGATCTGAGACCCATTCTGACTTC -3'

Posted On

2020-01-23