Mutagenetix > Incidental Mutation

Incidental Mutation 'R7445:Pcyox1'

577220

Institutional Source

Beutler Lab

Gene Symbol

Pcyox1

Ensembl Gene

ENSMUSG00000029998

Gene Name

prenylcysteine oxidase 1

Synonyms

1200015P13Rik, Pcly, PCL1

MMRRC Submission

045521-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7445 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86386006-86397154 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86391679 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 286 (T286A)

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: T286A

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032065
Gene: ENSMUSG00000029998
AA Change: T286A

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

Meta Mutation Damage Score

0.3172

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,619 (GRCm38)	S233T	probably damaging	Het
1700034E13Rik	T	A	18: 52,660,481 (GRCm38)	C29S	probably damaging	Het
1700061G19Rik	G	A	17: 56,882,973 (GRCm38)	R333Q	possibly damaging	Het
9130409I23Rik	A	G	1: 181,055,012 (GRCm38)	N113S	possibly damaging	Het
Ank3	A	G	10: 69,992,124 (GRCm38)	T2208A		Het
Ap4s1	T	C	12: 51,738,641 (GRCm38)	L132P	probably damaging	Het
Ascl4	C	T	10: 85,928,500 (GRCm38)	R4C	probably benign	Het
Brd7	A	T	8: 88,361,708 (GRCm38)	Y18N	probably damaging	Het
Cacna2d3	A	G	14: 29,058,618 (GRCm38)	S648P	possibly damaging	Het
Camta1	C	T	4: 151,144,291 (GRCm38)	E695K	possibly damaging	Het
Ccdc28b	A	G	4: 129,622,607 (GRCm38)	F53L	probably benign	Het
Chaf1a	A	G	17: 56,062,170 (GRCm38)	D467G	possibly damaging	Het
Cnnm1	G	A	19: 43,440,821 (GRCm38)	R126H	possibly damaging	Het
Cog5	T	G	12: 31,919,672 (GRCm38)	S730R	possibly damaging	Het
Col11a1	A	T	3: 114,193,929 (GRCm38)	E1374D	unknown	Het
Csmd1	A	G	8: 16,158,254 (GRCm38)	I1229T	possibly damaging	Het
Dnajc30	T	C	5: 135,064,378 (GRCm38)	L43P	probably damaging	Het
Eif3f	C	T	7: 108,934,658 (GRCm38)	T76M	unknown	Het
Ermap	G	A	4: 119,188,710 (GRCm38)	T42I	unknown	Het
Gpd1l	C	T	9: 114,920,674 (GRCm38)	G25S	probably damaging	Het
Heatr1	G	T	13: 12,431,038 (GRCm38)	W1632L	possibly damaging	Het
Ice1	T	C	13: 70,596,167 (GRCm38)	D29G		Het
Ipo8	T	C	6: 148,789,817 (GRCm38)	D685G	probably benign	Het
Klra10	T	C	6: 130,275,856 (GRCm38)	T152A	probably benign	Het
Lmntd1	T	A	6: 145,429,967 (GRCm38)	S82C	probably damaging	Het
Maip1	T	C	1: 57,407,031 (GRCm38)	S87P	possibly damaging	Het
Mapkapk2	A	G	1: 131,097,519 (GRCm38)	S3P	unknown	Het
Mei4	A	G	9: 81,890,239 (GRCm38)	Y35C	possibly damaging	Het
Ms4a14	T	G	19: 11,302,972 (GRCm38)	K741Q	probably benign	Het
Naip2	A	C	13: 100,161,782 (GRCm38)	I582S	probably benign	Het
Ncapg2	A	G	12: 116,419,268 (GRCm38)	I240V	possibly damaging	Het
Ncbp1	T	A	4: 46,149,914 (GRCm38)	M145K	probably damaging	Het
Nmur2	A	G	11: 56,032,940 (GRCm38)	F263L	probably damaging	Het
Ntrk2	A	G	13: 58,846,762 (GRCm38)	E164G	probably benign	Het
Olfr48	T	A	2: 89,844,272 (GRCm38)	T234S	probably damaging	Het
Olfr705	A	G	7: 106,873,342 (GRCm38)	L301S	possibly damaging	Het
Olfr785	A	T	10: 129,409,885 (GRCm38)	D173V	probably benign	Het
P3h2	T	A	16: 25,985,065 (GRCm38)	Y317F	probably damaging	Het
Pcmtd1	C	T	1: 7,120,420 (GRCm38)	R38C	probably damaging	Het
Pdxk	T	C	10: 78,447,967 (GRCm38)	D131G	probably benign	Het
Ppl	T	C	16: 5,089,068 (GRCm38)	D1121G	probably damaging	Het
Prkra	T	C	2: 76,633,598 (GRCm38)	D240G	probably benign	Het
Ptgs1	C	A	2: 36,245,210 (GRCm38)	N395K	probably benign	Het
Ptprq	A	T	10: 107,590,959 (GRCm38)	Y1572N	probably damaging	Het
Pyroxd1	A	T	6: 142,358,501 (GRCm38)	H326L	probably benign	Het
Rapgef5	A	G	12: 117,755,969 (GRCm38)	D778G	probably benign	Het
Rbm46	T	A	3: 82,864,210 (GRCm38)	E366V	probably damaging	Het
Rnd1	G	T	15: 98,670,669 (GRCm38)	H209Q	probably benign	Het
Rnf122	A	T	8: 31,118,500 (GRCm38)	D32V	possibly damaging	Het
Samd4b	G	A	7: 28,406,456 (GRCm38)	P446S	probably benign	Het
Slco1a5	C	A	6: 142,259,008 (GRCm38)	A187S	possibly damaging	Het
Smarca4	G	A	9: 21,686,247 (GRCm38)	V1436M	probably damaging	Het
Smok2a	G	A	17: 13,226,639 (GRCm38)	G368R	possibly damaging	Het
Smok3c	T	A	5: 138,064,495 (GRCm38)	H81Q	probably damaging	Het
Soga3	T	C	10: 29,197,003 (GRCm38)	S764P	possibly damaging	Het
Stk16	T	C	1: 75,213,652 (GRCm38)	V245A	probably damaging	Het
Svep1	A	T	4: 58,094,122 (GRCm38)	N1505K	possibly damaging	Het
Tigd4	G	A	3: 84,595,164 (GRCm38)	A463T	probably benign	Het
Tmem117	T	C	15: 94,714,918 (GRCm38)	F112L	probably benign	Het
Tmem72	A	G	6: 116,698,330 (GRCm38)	I67T	probably benign	Het
Tnik	A	G	3: 28,663,909 (GRCm38)		probably null	Het
Trav14-2	A	G	14: 53,641,058 (GRCm38)	Q66R	probably damaging	Het
Trpv6	T	A	6: 41,621,342 (GRCm38)	D677V	probably damaging	Het
Vgll4	C	T	6: 114,862,196 (GRCm38)	S278N	unknown	Het
Wdfy4	C	T	14: 33,070,618 (GRCm38)	W2157*	probably null	Het

Other mutations in Pcyox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01722:Pcyox1	APN	6	86,388,753 (GRCm38)	missense	probably damaging	1.00
IGL02008:Pcyox1	APN	6	86,392,268 (GRCm38)	missense	probably benign	0.01
IGL02655:Pcyox1	APN	6	86,389,344 (GRCm38)	missense	probably damaging	1.00
R0690:Pcyox1	UTSW	6	86,394,442 (GRCm38)	missense	probably damaging	1.00
R4631:Pcyox1	UTSW	6	86,389,230 (GRCm38)	missense	possibly damaging	0.96
R4631:Pcyox1	UTSW	6	86,389,143 (GRCm38)	missense	probably benign	0.00
R4976:Pcyox1	UTSW	6	86,388,726 (GRCm38)	missense	probably damaging	1.00
R5227:Pcyox1	UTSW	6	86,391,744 (GRCm38)	missense	probably damaging	0.98
R5288:Pcyox1	UTSW	6	86,392,354 (GRCm38)	splice site	probably null
R5408:Pcyox1	UTSW	6	86,392,298 (GRCm38)	missense	probably damaging	1.00
R5862:Pcyox1	UTSW	6	86,391,674 (GRCm38)	critical splice donor site	probably null
R6002:Pcyox1	UTSW	6	86,392,182 (GRCm38)	missense	probably benign	0.02
R6123:Pcyox1	UTSW	6	86,388,928 (GRCm38)	missense	possibly damaging	0.88
R6290:Pcyox1	UTSW	6	86,388,899 (GRCm38)	missense	probably benign	0.24
R6766:Pcyox1	UTSW	6	86,394,408 (GRCm38)	critical splice donor site	probably null
R7047:Pcyox1	UTSW	6	86,388,909 (GRCm38)	missense	probably damaging	1.00
R7066:Pcyox1	UTSW	6	86,394,496 (GRCm38)	missense	probably damaging	1.00
R7139:Pcyox1	UTSW	6	86,394,537 (GRCm38)	missense	possibly damaging	0.50
R7268:Pcyox1	UTSW	6	86,391,731 (GRCm38)	missense	possibly damaging	0.69
R7870:Pcyox1	UTSW	6	86,392,341 (GRCm38)	missense	probably damaging	1.00
R8050:Pcyox1	UTSW	6	86,389,146 (GRCm38)	missense	possibly damaging	0.88
R8253:Pcyox1	UTSW	6	86,389,062 (GRCm38)	missense	probably benign
R9296:Pcyox1	UTSW	6	86,391,753 (GRCm38)	missense	probably damaging	1.00
R9301:Pcyox1	UTSW	6	86,392,259 (GRCm38)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- GTGGAACTTGACATCAAATCTCCAC -3'
(R):5'- TTTTGCACCCTCCTGACAGG -3'

Sequencing Primer
(F):5'- CTAGTCCACACAGTGAGTTCTAGG -3'
(R):5'- ACAGGGGCGGTGTCATTGAC -3'

Posted On

2019-10-07