Incidental Mutation 'R8009:Ppcs'
ID 616789
Institutional Source Beutler Lab
Gene Symbol Ppcs
Ensembl Gene ENSMUSG00000028636
Gene Name phosphopantothenoylcysteine synthetase
Synonyms 6330579B17Rik
MMRRC Submission 046049-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R8009 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 119275727-119279617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119276262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 281 (S281T)
Ref Sequence ENSEMBL: ENSMUSP00000030385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030385] [ENSMUST00000063642] [ENSMUST00000094819] [ENSMUST00000106316]
AlphaFold Q8VDG5
Predicted Effect probably benign
Transcript: ENSMUST00000030385
AA Change: S281T

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000030385
Gene: ENSMUSG00000028636
AA Change: S281T

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

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
AA Change: S108T

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000101923
Gene: ENSMUSG00000028636
AA Change: S108T

DomainStartEndE-ValueType
Pfam:DFP 1 107 5.2e-14 PFAM
Meta Mutation Damage Score 0.0624 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (54/54)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,878,870 (GRCm39) N751K possibly damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Baz1a A T 12: 54,941,816 (GRCm39) Y1466* probably null Het
Ccng1 G A 11: 40,642,096 (GRCm39) H229Y probably benign Het
Cenpn C A 8: 117,663,976 (GRCm39) T256N probably benign Het
Ciart A G 3: 95,788,629 (GRCm39) V70A possibly damaging Het
Clcc1 A G 3: 108,568,774 (GRCm39) N36S probably damaging Het
Dmrt1 T A 19: 25,523,245 (GRCm39) S199T possibly damaging Het
Dmrt3 T C 19: 25,588,272 (GRCm39) V37A possibly damaging Het
Dock1 T A 7: 134,346,786 (GRCm39) D239E possibly damaging Het
Dyrk3 A G 1: 131,063,995 (GRCm39) probably null Het
Esyt1 T C 10: 128,347,354 (GRCm39) E1057G probably benign Het
Fsip2 A G 2: 82,818,793 (GRCm39) E4842G possibly damaging Het
Gadd45b G A 10: 80,766,984 (GRCm39) V90I probably benign Het
Gfi1 T A 5: 107,871,667 (GRCm39) H79L probably damaging Het
Golm2 T C 2: 121,737,242 (GRCm39) V261A probably benign Het
Idh2 T C 7: 79,748,001 (GRCm39) H233R probably benign Het
Itsn2 G A 12: 4,714,553 (GRCm39) A950T probably benign Het
Kcna5 A G 6: 126,510,517 (GRCm39) L537P probably benign Het
Krtap5-4 C T 7: 141,857,671 (GRCm39) Q114* probably null Het
Loxl3 T C 6: 83,027,790 (GRCm39) F734S possibly damaging Het
Lpcat1 C T 13: 73,659,498 (GRCm39) T420I probably damaging Het
Lrch3 A T 16: 32,826,083 (GRCm39) D720V possibly damaging Het
Lrrk1 T C 7: 65,915,222 (GRCm39) D1622G possibly damaging Het
Meioc G C 11: 102,567,569 (GRCm39) A788P probably damaging Het
Mmp1a A T 9: 7,467,236 (GRCm39) T271S possibly damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Ntrk3 T A 7: 78,103,076 (GRCm39) D408V probably benign Het
Odf1 A G 15: 38,226,840 (GRCm39) I247V unknown Het
Or14j5 A T 17: 38,161,693 (GRCm39) D70V probably damaging Het
Or8k39 A G 2: 86,563,848 (GRCm39) L36P probably damaging Het
Pcsk1 T C 13: 75,274,958 (GRCm39) S516P probably benign Het
Phactr3 A C 2: 177,974,737 (GRCm39) R523S probably damaging Het
Pikfyve A G 1: 65,294,293 (GRCm39) D1411G probably damaging Het
Prkcg A G 7: 3,362,708 (GRCm39) D294G probably benign Het
Psg28 T A 7: 18,156,922 (GRCm39) I438L probably damaging Het
Pspc1 G A 14: 57,009,304 (GRCm39) Q177* probably null Het
Rbm33 G A 5: 28,599,606 (GRCm39) G185R Het
Rps6ka5 T C 12: 100,544,048 (GRCm39) E350G probably damaging Het
Satb2 A G 1: 56,910,917 (GRCm39) S243P probably benign Het
Serinc5 T C 13: 92,797,699 (GRCm39) probably null Het
Sgce T C 6: 4,691,636 (GRCm39) D313G probably damaging Het
Sntg1 C T 1: 8,433,794 (GRCm39) V486I probably damaging Het
Stxbp5 A G 10: 9,692,046 (GRCm39) V366A probably damaging Het
Tep1 A G 14: 51,061,687 (GRCm39) S2610P possibly damaging Het
Tlr3 G A 8: 45,853,819 (GRCm39) T167M not run Het
Tmem200a A G 10: 25,869,904 (GRCm39) S122P probably damaging Het
Tmprss15 C T 16: 78,887,751 (GRCm39) V19M probably damaging Het
Tnks2 T A 19: 36,829,901 (GRCm39) M194K probably benign Het
Trav14d-3-dv8 A C 14: 53,316,224 (GRCm39) Q28P probably damaging Het
Trpm5 T C 7: 142,634,106 (GRCm39) E700G probably benign Het
Ubqln3 T A 7: 103,791,797 (GRCm39) I98L probably benign Het
Uso1 A T 5: 92,314,439 (GRCm39) E115D probably benign Het
Vmn1r28 T C 6: 58,242,178 (GRCm39) V7A probably benign Het
Other mutations in Ppcs
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CTCAGAACTGAAGTCCCAGCAG -3'
(R):5'- TCTGGTCAAAGACTGGGCTC -3'

Sequencing Primer
(F):5'- CACTGTGTTGATCCTTAACAGAGG -3'
(R):5'- TCAAAGACTGGGCTCCTAAAG -3'
Posted On 2020-01-23