Incidental Mutation 'R0788:Ppcs'
ID 76338
Institutional Source Beutler Lab
Gene Symbol Ppcs
Ensembl Gene ENSMUSG00000028636
Gene Name phosphopantothenoylcysteine synthetase
Synonyms 6330579B17Rik
MMRRC Submission 038968-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R0788 (G1)
Quality Score 199
Status Validated
Chromosome 4
Chromosomal Location 119275727-119279617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119279375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 59 (N59S)
Ref Sequence ENSEMBL: ENSMUSP00000030385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030385] [ENSMUST00000094819] [ENSMUST00000106316]
AlphaFold Q8VDG5
Predicted Effect probably damaging
Transcript: ENSMUST00000030385
AA Change: N59S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030385
Gene: ENSMUSG00000028636
AA Change: N59S

DomainStartEndE-ValueType
Pfam:DFP 33 96 1.2e-9 PFAM
Pfam:DFP 117 276 8.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094819
SMART Domains Protein: ENSMUSP00000092414
Gene: ENSMUSG00000070806

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000106316
SMART Domains Protein: ENSMUSP00000101923
Gene: ENSMUSG00000028636

DomainStartEndE-ValueType
Pfam:DFP 1 107 5.2e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134147
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140641
Meta Mutation Damage Score 0.8308 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 93.0%
Validation Efficiency 98% (53/54)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,610,468 (GRCm39) Y380* probably null Het
4931406B18Rik C A 7: 43,148,623 (GRCm39) S196I probably damaging Het
Ablim2 T C 5: 36,015,245 (GRCm39) S519P probably benign Het
Adnp2 A C 18: 80,173,219 (GRCm39) C397G probably benign Het
Aldh1l2 A G 10: 83,352,028 (GRCm39) S156P probably damaging Het
Bcl2l15 G T 3: 103,740,794 (GRCm39) probably null Het
Brd9 T A 13: 74,092,986 (GRCm39) probably benign Het
Cars2 A C 8: 11,579,672 (GRCm39) I262R possibly damaging Het
Ccdc106 T C 7: 5,060,533 (GRCm39) probably benign Het
Cdh3 G A 8: 107,268,047 (GRCm39) V361M probably benign Het
Cdhr1 A C 14: 36,809,332 (GRCm39) probably null Het
Cdk5rap2 A G 4: 70,225,468 (GRCm39) I559T possibly damaging Het
Cdkn2aip T A 8: 48,166,798 (GRCm39) Q3L possibly damaging Het
Chd1 G T 17: 15,927,376 (GRCm39) V10F possibly damaging Het
Col4a4 G A 1: 82,502,717 (GRCm39) P356S unknown Het
Col6a4 T C 9: 105,949,197 (GRCm39) K813E probably benign Het
Cttnbp2 G A 6: 18,423,834 (GRCm39) T830I probably damaging Het
Cyp2t4 A G 7: 26,854,588 (GRCm39) M23V probably null Het
Cyp3a16 T C 5: 145,401,886 (GRCm39) K59E probably benign Het
Dpysl5 G A 5: 30,946,185 (GRCm39) probably null Het
E130308A19Rik T A 4: 59,719,847 (GRCm39) Y460N possibly damaging Het
Ear6 T A 14: 52,091,487 (GRCm39) C11* probably null Het
Fat1 C T 8: 45,477,020 (GRCm39) T1999M probably benign Het
Gsdmd T A 15: 75,736,103 (GRCm39) C77* probably null Het
Hsp90ab1 ACTTCTT ACTT 17: 45,880,425 (GRCm39) probably benign Het
Kif28 A T 1: 179,532,788 (GRCm39) probably benign Het
Krt6b A G 15: 101,585,954 (GRCm39) I373T probably damaging Het
Lgr5 T C 10: 115,288,902 (GRCm39) T509A probably damaging Het
Mapkbp1 C T 2: 119,854,482 (GRCm39) P1354S probably benign Het
Nat10 A G 2: 103,573,460 (GRCm39) S346P probably damaging Het
Ncoa2 T C 1: 13,237,113 (GRCm39) probably benign Het
Necap1 C T 6: 122,858,495 (GRCm39) R113W probably damaging Het
Or1l4 T A 2: 37,092,035 (GRCm39) Y261N possibly damaging Het
Orc4 A T 2: 48,827,479 (GRCm39) V38E possibly damaging Het
Per1 G A 11: 68,992,185 (GRCm39) probably benign Het
Polb T C 8: 23,132,354 (GRCm39) D130G probably null Het
Ppp2ca A G 11: 52,003,969 (GRCm39) E42G possibly damaging Het
Ptprf T C 4: 118,083,663 (GRCm39) T807A probably damaging Het
Rapgef2 A C 3: 79,006,502 (GRCm39) F284V possibly damaging Het
Sestd1 A T 2: 77,022,060 (GRCm39) F544I probably damaging Het
Slfn3 G A 11: 83,103,662 (GRCm39) G178S possibly damaging Het
Supt6 G A 11: 78,098,598 (GRCm39) probably benign Het
Tas2r109 T A 6: 132,957,264 (GRCm39) Q222L probably benign Het
Tekt4 A C 17: 25,691,021 (GRCm39) D109A probably damaging Het
Tob2 C A 15: 81,735,903 (GRCm39) R22L probably damaging Het
Ttn T G 2: 76,653,282 (GRCm39) E178D possibly damaging Het
Ube2u C A 4: 100,371,937 (GRCm39) probably benign Het
Uggt2 A G 14: 119,332,812 (GRCm39) probably benign Het
Vstm2a T C 11: 16,209,968 (GRCm39) F65L probably damaging Het
Zfp57 A G 17: 37,317,092 (GRCm39) probably benign Het
Znrf3 G T 11: 5,231,320 (GRCm39) P731Q probably benign Het
Other mutations in Ppcs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02438:Ppcs APN 4 119,278,889 (GRCm39) splice site probably benign
R2285:Ppcs UTSW 4 119,276,174 (GRCm39) missense possibly damaging 0.94
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'- TGCCTCTTGGTAGCTCTGCAATG -3'
(R):5'- TTCGAGCCTTAGCGAGATCAGGAC -3'

Sequencing Primer
(F):5'- TTCGGCCTCCAGACTCAG -3'
(R):5'- CTTAGCGAGATCAGGACCTACTG -3'
Posted On 2013-10-16