Mutagenetix > Incidental Mutations

Incidental Mutation 'R0945:Ppcdc'

82066

Institutional Source

Beutler Lab

Gene Symbol

Ppcdc

Ensembl Gene

ENSMUSG00000063849

Gene Name

phosphopantothenoylcysteine decarboxylase

Synonyms

1810057I13Rik, 8430432M10Rik

MMRRC Submission

039084-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R0945 (G1)

Quality Score

181

Status

Validated

Chromosome

Chromosomal Location

57385095-57440124 bp(-) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 57420158 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085709] [ENSMUST00000213194] [ENSMUST00000213479] [ENSMUST00000214065] [ENSMUST00000214144] [ENSMUST00000214166] [ENSMUST00000214339] [ENSMUST00000214624] [ENSMUST00000215299] [ENSMUST00000215883] [ENSMUST00000216365]

Predicted Effect

probably null
Transcript: ENSMUST00000085709

SMART Domains

Protein: ENSMUSP00000082856
Gene: ENSMUSG00000063849

Domain	Start	End	E-Value	Type
Pfam:Flavoprotein	18	149	7.9e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213194

Predicted Effect

probably benign
Transcript: ENSMUST00000213479

Predicted Effect

probably null
Transcript: ENSMUST00000214065

Predicted Effect

probably null
Transcript: ENSMUST00000214144

Predicted Effect

probably benign
Transcript: ENSMUST00000214166

Predicted Effect

probably benign
Transcript: ENSMUST00000214339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214519

Predicted Effect

probably benign
Transcript: ENSMUST00000214624

Predicted Effect

probably benign
Transcript: ENSMUST00000215299

Predicted Effect

probably benign
Transcript: ENSMUST00000215883

Predicted Effect

probably null
Transcript: ENSMUST00000215961

Predicted Effect

probably benign
Transcript: ENSMUST00000216365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217255

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.5%
3x: 99.1%
10x: 98.1%
20x: 96.8%

Validation Efficiency

98% (44/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, converts phosphopantothenoylcysteine to 4-prime-phosphopantetheine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	A	G	16: 35,290,111	M883V	probably benign	Het
Allc	A	G	12: 28,559,963	S212P	probably benign	Het
Anxa10	A	G	8: 62,060,245		probably benign	Het
Apoa2	A	G	1: 171,225,699		probably null	Het
Arfgef2	T	C	2: 166,826,969		probably benign	Het
Arhgap30	G	T	1: 171,403,286	V204L	probably damaging	Het
Cd109	T	A	9: 78,688,941	V852E	possibly damaging	Het
Ceacam5	T	A	7: 17,747,344	Y339N	probably damaging	Het
Chaf1a	A	G	17: 56,067,441	D876G	probably damaging	Het
Chd9	A	G	8: 90,933,002	K197E	possibly damaging	Het
Cnr2	A	T	4: 135,917,321	M237L	probably benign	Het
Dnm2	C	A	9: 21,505,660	Q830K	probably damaging	Het
Dst	T	C	1: 34,271,419	L1615P	probably damaging	Het
Eid1	A	G	2: 125,673,577	D129G	probably damaging	Het
Exoc5	A	G	14: 49,039,342		probably benign	Het
Greb1	T	C	12: 16,673,802	Y1854C	probably benign	Het
Il15ra	T	A	2: 11,718,327	V54E	probably damaging	Het
Il4i1	G	A	7: 44,839,704	V306M	probably damaging	Het
Lrsam1	T	C	2: 32,947,909	D211G	probably benign	Het
Miga1	A	T	3: 152,317,663	F250L	possibly damaging	Het
Myrfl	C	T	10: 116,803,394		probably benign	Het
Nell1	A	G	7: 50,219,585	I203V	probably benign	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr112	G	A	17: 37,563,387	T308I	probably benign	Het
Olfr1234	T	C	2: 89,363,255	Y58C	probably damaging	Het
Olfr654	T	A	7: 104,588,672	N289K	probably damaging	Het
Pdxdc1	A	G	16: 13,857,432	L345P	probably damaging	Het
Pex3	C	A	10: 13,542,676	A79S	probably benign	Het
Pla2r1	A	C	2: 60,458,410	L626R	possibly damaging	Het
Plcb3	A	G	19: 6,954,878	S1107P	probably damaging	Het
Rbak	A	T	5: 143,173,579	F573Y	probably damaging	Het
Rfc1	A	G	5: 65,278,709		probably null	Het
Rpl13	C	T	8: 123,105,174	A203V	possibly damaging	Het
Scn8a	A	G	15: 101,015,787	H1020R	possibly damaging	Het
Slf1	A	G	13: 77,103,471		probably benign	Het
Synj1	A	G	16: 90,960,445	L905S	possibly damaging	Het
Tmem59	T	A	4: 107,187,725		probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Uri1	A	T	7: 37,969,678	D127E	probably damaging	Het
Usp31	T	C	7: 121,670,253	E489G	probably damaging	Het
Zfp329	T	A	7: 12,811,468	N43I	probably benign	Het
Zfp941	C	T	7: 140,811,664	R594H	probably damaging	Het
Zfy1	T	C	Y: 725,983	D594G	probably damaging	Het

Other mutations in Ppcdc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Ppcdc	APN	9	57415140	missense	probably benign	0.00
R1666:Ppcdc	UTSW	9	57414715	missense	possibly damaging	0.91
R3684:Ppcdc	UTSW	9	57421125	critical splice donor site	probably null
R4223:Ppcdc	UTSW	9	57414715	missense	possibly damaging	0.91
R4821:Ppcdc	UTSW	9	57434911	missense	probably benign	0.00
R5121:Ppcdc	UTSW	9	57421163	missense	possibly damaging	0.56
R5236:Ppcdc	UTSW	9	57414654	missense	probably benign	0.00
R7034:Ppcdc	UTSW	9	57415170	missense	probably damaging	1.00
R7303:Ppcdc	UTSW	9	57414675	missense	probably benign
R7591:Ppcdc	UTSW	9	57434979	missense	probably damaging	1.00
R7835:Ppcdc	UTSW	9	57420276	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AACAGGGGAGCTACTCGATAGACC -3'
(R):5'- TCCTCATGCACATACTGAGAGGGAC -3'

Sequencing Primer
(F):5'- CGATAGACCCGAATCTCATGGTG -3'
(R):5'- ACTGGATTGGTGACCCCATTTC -3'

Posted On

2013-11-08