Incidental Mutation 'R4261:Ppcs'
ID 322646
Institutional Source Beutler Lab
Gene Symbol Ppcs
Ensembl Gene ENSMUSG00000028636
Gene Name phosphopantothenoylcysteine synthetase
Synonyms 6330579B17Rik
MMRRC Submission 041074-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R4261 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 119275727-119279617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119279106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 149 (F149L)
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: F149L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030385
Gene: ENSMUSG00000028636
AA Change: F149L

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 0.5726 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 96% (53/55)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,214,066 (GRCm39) S298P probably damaging Het
4930407I10Rik A G 15: 81,947,927 (GRCm39) D608G possibly damaging Het
Actr10 T C 12: 70,999,759 (GRCm39) V185A probably benign Het
Adam9 G A 8: 25,454,923 (GRCm39) Q733* probably null Het
Adamts4 C T 1: 171,086,673 (GRCm39) P822S probably benign Het
Arhgap9 G C 10: 127,164,334 (GRCm39) R537P probably damaging Het
Bsn T A 9: 107,987,883 (GRCm39) probably benign Het
Car5a A T 8: 122,671,488 (GRCm39) H15Q probably benign Het
Disp1 A T 1: 182,870,950 (GRCm39) I490N probably damaging Het
Dlgap5 T G 14: 47,651,245 (GRCm39) Y96S probably damaging Het
Dnah10 T A 5: 124,807,201 (GRCm39) V162D possibly damaging Het
Dock7 A T 4: 98,892,123 (GRCm39) M821K possibly damaging Het
Exoc3l T C 8: 106,017,599 (GRCm39) R528G probably damaging Het
Fam234b G A 6: 135,186,134 (GRCm39) G17E unknown Het
Grhl2 G A 15: 37,361,067 (GRCm39) G617D possibly damaging Het
Herc1 CTGAGGACTCTTTG CTG 9: 66,355,630 (GRCm39) probably null Het
Hoxd9 C A 2: 74,526,031 (GRCm39) probably benign Het
Hspa9 A G 18: 35,072,476 (GRCm39) S550P probably damaging Het
Ide A C 19: 37,306,585 (GRCm39) S63A unknown Het
Kat6b T A 14: 21,719,737 (GRCm39) I1363N probably damaging Het
Ltbp1 T A 17: 75,598,362 (GRCm39) C614* probably null Het
Mphosph8 A G 14: 56,911,922 (GRCm39) D315G probably benign Het
Mthfr-ps1 A C 5: 78,622,330 (GRCm39) noncoding transcript Het
Mug1 A G 6: 121,850,693 (GRCm39) T730A probably benign Het
Myef2 T C 2: 124,957,399 (GRCm39) T119A possibly damaging Het
Pald1 A G 10: 61,179,471 (GRCm39) L466P probably damaging Het
Pcdh15 G A 10: 74,481,512 (GRCm39) V286M probably damaging Het
Pcdhgb2 A G 18: 37,824,950 (GRCm39) D647G probably damaging Het
Pdgfrb A C 18: 61,210,703 (GRCm39) T737P probably benign Het
Pgk2 T G 17: 40,518,274 (GRCm39) T385P probably benign Het
Pkp4 A G 2: 59,135,506 (GRCm39) Y126C probably damaging Het
Plppr1 A G 4: 49,300,993 (GRCm39) I109V probably benign Het
Ppp2r5d G A 17: 46,998,007 (GRCm39) Q219* probably null Het
Raf1 C T 6: 115,600,015 (GRCm39) probably null Het
Rfx7 C T 9: 72,523,925 (GRCm39) R372W probably damaging Het
Robo4 C A 9: 37,316,877 (GRCm39) S397R probably benign Het
Sat1 T C X: 153,998,182 (GRCm39) probably benign Het
Serpina1c T C 12: 103,863,339 (GRCm39) K287R probably benign Het
Sgsm2 T A 11: 74,782,854 (GRCm39) H34L probably damaging Het
Slc38a4 A G 15: 96,896,374 (GRCm39) Y498H probably damaging Het
Ttn T A 2: 76,628,384 (GRCm39) Y14592F probably damaging Het
Ube3b T C 5: 114,536,489 (GRCm39) F245S possibly damaging Het
Ugt3a1 G A 15: 9,335,879 (GRCm39) probably null Het
Wdr91 T A 6: 34,881,457 (GRCm39) S297C possibly damaging Het
Zcwpw2 T C 9: 117,827,982 (GRCm39) noncoding transcript 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
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'- TAACTCGGGTTCCTTGGCTG -3'
(R):5'- TCTGGACAACTTCAGTAGCGGG -3'

Sequencing Primer
(F):5'- CTGTGGGGTAGGCAGCAAG -3'
(R):5'- TTCTTGTACCGAGCGCG -3'
Posted On 2015-06-20