Incidental Mutation 'R9239:Ppcs'
ID 700628
Institutional Source Beutler Lab
Gene Symbol Ppcs
Ensembl Gene ENSMUSG00000028636
Gene Name phosphopantothenoylcysteine synthetase
Synonyms 6330579B17Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R9239 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 119275727-119279617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 119276235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 290 (V290M)
Ref Sequence ENSEMBL: ENSMUSP00000030385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030385] [ENSMUST00000063642] [ENSMUST00000094819] [ENSMUST00000106316]
AlphaFold Q8VDG5
Predicted Effect possibly damaging
Transcript: ENSMUST00000030385
AA Change: V290M

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030385
Gene: ENSMUSG00000028636
AA Change: V290M

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 possibly damaging
Transcript: ENSMUST00000106316
AA Change: V117M

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101923
Gene: ENSMUSG00000028636
AA Change: V117M

DomainStartEndE-ValueType
Pfam:DFP 1 107 5.2e-14 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (44/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 A G 2: 164,646,608 (GRCm39) probably null Het
Aldh1l2 A G 10: 83,342,496 (GRCm39) F438S probably damaging Het
Alk T A 17: 72,256,864 (GRCm39) N665I probably benign Het
Anxa4 T A 6: 86,734,812 (GRCm39) T59S probably benign Het
B3gnt8 ACCCC ACCC 7: 25,327,676 (GRCm39) probably null Het
Cabs1 G A 5: 88,127,385 (GRCm39) R12Q probably benign Het
Cep152 A G 2: 125,425,830 (GRCm39) V845A probably benign Het
Dipk1a T C 5: 108,059,572 (GRCm39) E127G possibly damaging Het
Dsg1a T A 18: 20,473,750 (GRCm39) V941E probably damaging Het
Fbxo11 G T 17: 88,316,522 (GRCm39) H284N Het
Fubp1 A G 3: 151,923,486 (GRCm39) E98G probably damaging Het
Fyco1 A G 9: 123,626,637 (GRCm39) I1358T probably damaging Het
Ginm1 T C 10: 7,649,825 (GRCm39) N156S possibly damaging Het
Gm3739 T C 14: 18,505,221 (GRCm39) Y101C probably damaging Het
Ide T C 19: 37,307,898 (GRCm39) N38S Het
Itgb4 T C 11: 115,898,130 (GRCm39) V1644A probably damaging Het
Itpka A G 2: 119,580,023 (GRCm39) D254G probably damaging Het
Kat7 T A 11: 95,197,020 (GRCm39) R6S probably benign Het
Klhl40 A T 9: 121,607,637 (GRCm39) T266S probably benign Het
Lratd1 A G 12: 14,200,185 (GRCm39) W181R probably damaging Het
Mmaa T C 8: 79,995,856 (GRCm39) D289G probably damaging Het
Muc5ac A T 7: 141,353,954 (GRCm39) D851V probably damaging Het
Or1e29 A G 11: 73,667,346 (GRCm39) V269A probably benign Het
Or52n4 G T 7: 104,293,746 (GRCm39) H278N probably damaging Het
Or6b3 T C 1: 92,439,454 (GRCm39) T99A probably benign Het
Pcdh17 T G 14: 84,770,649 (GRCm39) I1042M probably benign Het
Pipox A G 11: 77,774,765 (GRCm39) I106T probably benign Het
Rnasel T A 1: 153,630,097 (GRCm39) N204K probably damaging Het
Runx1 A G 16: 92,402,935 (GRCm39) Y336H probably damaging Het
Sell A G 1: 163,893,176 (GRCm39) I131V possibly damaging Het
Serpina3f A G 12: 104,184,710 (GRCm39) R285G possibly damaging Het
Slc25a2 A T 18: 37,771,169 (GRCm39) M120K possibly damaging Het
Slc47a1 A T 11: 61,250,344 (GRCm39) probably null Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Spats2l A G 1: 57,871,257 (GRCm39) probably benign Het
Spopfm1 T A 3: 94,173,871 (GRCm39) V289E probably benign Het
Taf1b T A 12: 24,606,015 (GRCm39) L431H probably damaging Het
Tectb CT C 19: 55,181,094 (GRCm39) probably null Het
Thsd7b G A 1: 130,087,453 (GRCm39) probably null Het
Tmtc4 A G 14: 123,165,078 (GRCm39) Y594H possibly damaging Het
Trim33 T C 3: 103,237,453 (GRCm39) F599L probably benign Het
Vcl A G 14: 21,072,092 (GRCm39) D819G probably damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r1 G T 3: 64,011,959 (GRCm39) V607L probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- AGAACTGAAGTCCCAGCAGG -3'
(R):5'- GCTCCTAAAGCGTTTGTAGTTTC -3'

Sequencing Primer
(F):5'- TGAAGTCCCAGCAGGCACTTG -3'
(R):5'- AAGCGTTTGTAGTTTCCTTTAAGC -3'
Posted On 2022-02-07