Mutagenetix > Incidental Mutation

Incidental Mutation 'R2285:Ppcs'

243270

Institutional Source

Beutler Lab

Gene Symbol

Ppcs

Ensembl Gene

ENSMUSG00000028636

Gene Name

phosphopantothenoylcysteine synthetase

Synonyms

6330579B17Rik

MMRRC Submission

040284-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R2285 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119275727-119279617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119276174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 137 (K137I)

Ref Sequence

ENSEMBL: ENSMUSP00000101923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030385] [ENSMUST00000063642] [ENSMUST00000094819] [ENSMUST00000106316]

AlphaFold

Q8VDG5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030385
AA Change: K310I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030385
Gene: ENSMUSG00000028636
AA Change: K310I

Domain	Start	End	E-Value	Type
Pfam:DFP	33	96	1.2e-9	PFAM
Pfam:DFP	117	276	8.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063642

SMART Domains

Protein: ENSMUSP00000070621
Gene: ENSMUSG00000028637

Domain	Start	End	E-Value	Type
Pfam:DUF4686	170	547	5.1e-155	PFAM
low complexity region	555	568	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094819

SMART Domains

Protein: ENSMUSP00000092414
Gene: ENSMUSG00000070806

Domain	Start	End	E-Value	Type
Pfam:zf-MYND	17	54	1.2e-10	PFAM
low complexity region	70	87	N/A	INTRINSIC
Blast:TPR	88	121	2e-14	BLAST
Pfam:TPR_8	130	157	3.9e-3	PFAM
Pfam:TPR_8	172	196	1.5e-2	PFAM
Blast:TPR	214	247	2e-13	BLAST
low complexity region	305	319	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106316
AA Change: K137I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101923
Gene: ENSMUSG00000028636
AA Change: K137I

Domain	Start	End	E-Value	Type
Pfam:DFP	1	107	5.2e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134147

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140641

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

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. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,087,037 (GRCm39)	Y532H	probably damaging	Het
Bbs9	T	G	9: 22,590,230 (GRCm39)	L656W	probably damaging	Het
Cibar2	T	C	8: 120,895,276 (GRCm39)	N209D	probably benign	Het
Clu	T	C	14: 66,218,408 (GRCm39)	S423P	probably benign	Het
Cnpy4	A	G	5: 138,191,087 (GRCm39)		probably null	Het
Col28a1	A	T	6: 8,097,078 (GRCm39)	V440E	probably damaging	Het
Colgalt2	A	G	1: 152,344,301 (GRCm39)	N121S	probably benign	Het
Cpa5	G	T	6: 30,615,063 (GRCm39)	V67L	probably benign	Het
Emilin1	G	A	5: 31,075,544 (GRCm39)	R595H	probably damaging	Het
Fat3	G	T	9: 16,287,469 (GRCm39)	Q685K	probably damaging	Het
Gfra4	C	T	2: 130,883,651 (GRCm39)	R34H	probably damaging	Het
Gp2	C	T	7: 119,049,308 (GRCm39)	V410M	possibly damaging	Het
Ints9	T	C	14: 65,245,446 (GRCm39)	F235L	possibly damaging	Het
Kcnh3	A	T	15: 99,139,873 (GRCm39)	I920F	probably benign	Het
Mipep	T	C	14: 61,024,843 (GRCm39)	S95P	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nxpe3	C	T	16: 55,686,588 (GRCm39)	G140D	probably damaging	Het
Or6c66b	A	G	10: 129,376,537 (GRCm39)	I44V	probably benign	Het
Tmc1	A	G	19: 20,767,163 (GRCm39)	M731T	probably damaging	Het
Tubgcp6	A	T	15: 89,006,677 (GRCm39)	V115D	probably damaging	Het
Usp54	G	A	14: 20,611,246 (GRCm39)	T1190I	possibly damaging	Het
Zfp51	T	A	17: 21,684,137 (GRCm39)	F251I	probably damaging	Het

Other mutations in Ppcs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02438:Ppcs	APN	4	119,278,889 (GRCm39)	splice site	probably benign
R0788:Ppcs	UTSW	4	119,279,375 (GRCm39)	missense	probably damaging	1.00
R4260:Ppcs	UTSW	4	119,279,106 (GRCm39)	missense	probably damaging	1.00
R4261:Ppcs	UTSW	4	119,279,106 (GRCm39)	missense	probably damaging	1.00
R4817:Ppcs	UTSW	4	119,276,343 (GRCm39)	missense	probably benign	0.34
R5061:Ppcs	UTSW	4	119,276,412 (GRCm39)	missense	probably damaging	1.00
R6774:Ppcs	UTSW	4	119,276,285 (GRCm39)	missense	probably damaging	0.96
R6962:Ppcs	UTSW	4	119,279,375 (GRCm39)	missense	probably damaging	1.00
R7961:Ppcs	UTSW	4	119,276,262 (GRCm39)	missense	probably benign	0.15
R8009:Ppcs	UTSW	4	119,276,262 (GRCm39)	missense	probably benign	0.15
R8818:Ppcs	UTSW	4	119,279,330 (GRCm39)	missense	probably damaging	1.00
R9233:Ppcs	UTSW	4	119,279,397 (GRCm39)	nonsense	probably null
R9239:Ppcs	UTSW	4	119,276,235 (GRCm39)	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- CACTTTCCAGATCCAGGAGAG -3'
(R):5'- ATAATCAGTCGGGCTCGGAATG -3'

Sequencing Primer
(F):5'- AGAGCGTCCAGTGTTTCAC -3'
(R):5'- CTTTGGAAGTTTACCAGCATCAGG -3'

Posted On

2014-10-16