Mutagenetix > Incidental Mutation

Incidental Mutation 'R7835:Ppcdc'

605926

Institutional Source

Beutler Lab

Gene Symbol

Ppcdc

Ensembl Gene

ENSMUSG00000063849

Gene Name

phosphopantothenoylcysteine decarboxylase

Synonyms

1810057I13Rik, 8430432M10Rik

MMRRC Submission

045889-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7835 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57385095-57440124 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57420276 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 83 (S83P)

Ref Sequence

ENSEMBL: ENSMUSP00000082856 (fasta)

Gene Model

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

AlphaFold

Q8BZB2

Predicted Effect

probably benign
Transcript: ENSMUST00000085709
AA Change: S83P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000082856
Gene: ENSMUSG00000063849
AA Change: S83P

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
AA Change: S6P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000214065
AA Change: S83P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214144
AA Change: S83P

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000214166

Predicted Effect

probably benign
Transcript: ENSMUST00000214339

Predicted Effect

probably benign
Transcript: ENSMUST00000214624

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215299
AA Change: S51P

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000215883

Predicted Effect

probably benign
Transcript: ENSMUST00000216365
AA Change: S83P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (48/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 79,099,875 (GRCm38)	S1465T	probably benign	Het
Accsl	T	A	2: 93,865,984 (GRCm38)	K90*	probably null	Het
Adamts3	A	T	5: 89,700,440 (GRCm38)	D674E	possibly damaging	Het
Adap2	T	A	11: 80,160,231 (GRCm38)	V129D	probably benign	Het
Ank3	A	G	10: 69,987,727 (GRCm38)	D742G		Het
C1ra	G	A	6: 124,517,725 (GRCm38)	E316K	probably benign	Het
C330021F23Rik	A	G	8: 3,580,452 (GRCm38)		probably benign	Het
Cachd1	G	T	4: 100,974,153 (GRCm38)		probably null	Het
Ccne1	G	T	7: 38,102,845 (GRCm38)	Q133K	probably benign	Het
Cers3	C	T	7: 66,773,639 (GRCm38)	H111Y	possibly damaging	Het
Chst5	A	T	8: 111,890,602 (GRCm38)	L129M	probably damaging	Het
Depdc7	A	G	2: 104,728,185 (GRCm38)	S164P	probably benign	Het
Dnah10	G	A	5: 124,777,234 (GRCm38)	A1966T	probably damaging	Het
Fam208a	G	T	14: 27,476,643 (GRCm38)	G1311C	probably damaging	Het
Fcgbp	T	G	7: 28,117,207 (GRCm38)	S2365A	possibly damaging	Het
Ihh	A	G	1: 74,946,366 (GRCm38)	V320A	probably damaging	Het
Kdm5d	T	C	Y: 900,558 (GRCm38)	V201A	possibly damaging	Het
Kif13b	T	A	14: 64,767,452 (GRCm38)	H1117Q	probably benign	Het
Lcn8	C	A	2: 25,655,296 (GRCm38)		probably null	Het
Lrp4	T	C	2: 91,495,042 (GRCm38)	V1404A	possibly damaging	Het
Lrrc61	A	T	6: 48,568,572 (GRCm38)	T110S	probably benign	Het
Mrpl19	G	A	6: 81,962,126 (GRCm38)	R232C	probably damaging	Het
Muc5ac	G	C	7: 141,809,303 (GRCm38)	G2117A	unknown	Het
Mzt1	T	C	14: 99,046,003 (GRCm38)	T21A	probably benign	Het
Naip6	G	T	13: 100,316,004 (GRCm38)	A183E	probably benign	Het
Neb	T	C	2: 52,150,577 (GRCm38)	D6624G	probably benign	Het
Nup85	A	G	11: 115,570,071 (GRCm38)	D183G	probably benign	Het
Olfm5	A	T	7: 104,154,445 (GRCm38)	Y195*	probably null	Het
Olfr828	T	A	9: 18,815,809 (GRCm38)	M162L	probably benign	Het
Piezo2	A	T	18: 63,082,945 (GRCm38)	F1216I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195 (GRCm38)		probably benign	Het
Polr1a	T	C	6: 71,915,142 (GRCm38)	V135A	probably benign	Het
Prss21	A	T	17: 23,869,451 (GRCm38)	Q130L	possibly damaging	Het
Rdx	T	A	9: 52,065,788 (GRCm38)	N112K	probably damaging	Het
Rgs22	A	G	15: 36,081,911 (GRCm38)		probably null	Het
Rps26	C	T	10: 128,626,126 (GRCm38)	V40I	probably benign	Het
Runx2	A	T	17: 44,608,236 (GRCm38)	M405K	probably damaging	Het
Serinc2	A	C	4: 130,275,487 (GRCm38)	C4G	unknown	Het
Sh3rf2	C	A	18: 42,111,170 (GRCm38)	R266S	probably benign	Het
Slc38a10	A	G	11: 120,116,996 (GRCm38)	I386T	possibly damaging	Het
Stab2	G	A	10: 86,872,619 (GRCm38)	P1694L	probably benign	Het
Taf4	G	A	2: 179,932,029 (GRCm38)	T682M	probably damaging	Het
Tmem102	A	G	11: 69,804,345 (GRCm38)	V267A	probably damaging	Het
Trim65	A	G	11: 116,130,929 (GRCm38)	L26P	probably damaging	Het
Vmn1r160	T	A	7: 22,871,954 (GRCm38)	M244K	possibly damaging	Het
Vmn1r57	A	T	7: 5,221,139 (GRCm38)	H221L	probably benign	Het
Wdr89	C	A	12: 75,632,899 (GRCm38)	V194F	probably damaging	Het
Wee1	C	A	7: 110,130,878 (GRCm38)	Y396*	probably null	Het
Zfp451	A	T	1: 33,772,979 (GRCm38)	V885D	probably damaging	Het
Zfp981	A	T	4: 146,537,876 (GRCm38)	Q419H	probably benign	Het
Znfx1	A	G	2: 167,039,827 (GRCm38)	Y1081H	probably damaging	Het

Other mutations in Ppcdc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Ppcdc	APN	9	57,415,140 (GRCm38)	missense	probably benign	0.00
R0945:Ppcdc	UTSW	9	57,420,158 (GRCm38)	splice site	probably null
R1666:Ppcdc	UTSW	9	57,414,715 (GRCm38)	missense	possibly damaging	0.91
R3684:Ppcdc	UTSW	9	57,421,125 (GRCm38)	critical splice donor site	probably null
R4223:Ppcdc	UTSW	9	57,414,715 (GRCm38)	missense	possibly damaging	0.91
R4821:Ppcdc	UTSW	9	57,434,911 (GRCm38)	missense	probably benign	0.00
R5121:Ppcdc	UTSW	9	57,421,163 (GRCm38)	missense	possibly damaging	0.56
R5236:Ppcdc	UTSW	9	57,414,654 (GRCm38)	missense	probably benign	0.00
R7034:Ppcdc	UTSW	9	57,415,170 (GRCm38)	missense	probably damaging	1.00
R7303:Ppcdc	UTSW	9	57,414,675 (GRCm38)	missense	probably benign
R7591:Ppcdc	UTSW	9	57,434,979 (GRCm38)	missense	probably damaging	1.00
R8942:Ppcdc	UTSW	9	57,434,982 (GRCm38)	missense	probably benign	0.00
R8944:Ppcdc	UTSW	9	57,434,982 (GRCm38)	missense	probably benign	0.00
R9324:Ppcdc	UTSW	9	57,434,997 (GRCm38)	missense	probably benign
R9378:Ppcdc	UTSW	9	57,420,288 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTTCAGCAGACTGGGAAC -3'
(R):5'- CGTTTAAAACATTTCTGGCTGGG -3'

Sequencing Primer
(F):5'- TCAGCAGACTGGGAACAAGGC -3'
(R):5'- AGAGTTCTTCTACTGGCTTGGACAAC -3'

Posted On

2019-12-20