Incidental Mutation 'R7835:Ppcdc'
ID 605926
Institutional Source Beutler Lab
Gene Symbol Ppcdc
Ensembl Gene ENSMUSG00000063849
Gene Name phosphopantothenoylcysteine decarboxylase
Synonyms 8430432M10Rik, 1810057I13Rik
MMRRC Submission 045889-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R7835 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 57292378-57347407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57327559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 83 (S83P)
Ref Sequence ENSEMBL: ENSMUSP00000082856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085709] [ENSMUST00000213194] [ENSMUST00000213479] [ENSMUST00000214065] [ENSMUST00000214144] [ENSMUST00000214166] [ENSMUST00000214339] [ENSMUST00000214624] [ENSMUST00000215299] [ENSMUST00000215883] [ENSMUST00000216365]
AlphaFold Q8BZB2
Predicted Effect probably benign
Transcript: ENSMUST00000085709
AA Change: S83P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000082856
Gene: ENSMUSG00000063849
AA Change: S83P

DomainStartEndE-ValueType
Pfam:Flavoprotein 18 149 7.9e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213194
Predicted Effect probably benign
Transcript: ENSMUST00000213479
AA Change: S6P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000214065
AA Change: S83P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214144
AA Change: S83P

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000214166
Predicted Effect probably benign
Transcript: ENSMUST00000214339
Predicted Effect probably benign
Transcript: ENSMUST00000214624
Predicted Effect possibly damaging
Transcript: ENSMUST00000215299
AA Change: S51P

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000215883
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000216365
AA Change: S83P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (48/49)
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. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, converts phosphopantothenoylcysteine to 4-prime-phosphopantetheine (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
Acan T A 7: 78,749,623 (GRCm39) S1465T probably benign Het
Accsl T A 2: 93,696,329 (GRCm39) K90* probably null Het
Adamts3 A T 5: 89,848,299 (GRCm39) D674E possibly damaging Het
Adap2 T A 11: 80,051,057 (GRCm39) V129D probably benign Het
Ank3 A G 10: 69,823,557 (GRCm39) D742G Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cachd1 G T 4: 100,831,350 (GRCm39) probably null Het
Ccne1 G T 7: 37,802,270 (GRCm39) Q133K probably benign Het
Cers3 C T 7: 66,423,387 (GRCm39) H111Y possibly damaging Het
Chst5 A T 8: 112,617,234 (GRCm39) L129M probably damaging Het
Depdc7 A G 2: 104,558,530 (GRCm39) S164P probably benign Het
Dnah10 G A 5: 124,854,298 (GRCm39) A1966T probably damaging Het
Fcgbp T G 7: 27,816,632 (GRCm39) S2365A possibly damaging Het
Ihh A G 1: 74,985,525 (GRCm39) V320A probably damaging Het
Kdm5d T C Y: 900,558 (GRCm39) V201A possibly damaging Het
Kif13b T A 14: 65,004,901 (GRCm39) H1117Q probably benign Het
Lcn8 C A 2: 25,545,308 (GRCm39) probably null Het
Lrp4 T C 2: 91,325,387 (GRCm39) V1404A possibly damaging Het
Lrrc61 A T 6: 48,545,506 (GRCm39) T110S probably benign Het
Mrpl19 G A 6: 81,939,107 (GRCm39) R232C probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Mzt1 T C 14: 99,283,439 (GRCm39) T21A probably benign Het
Naip6 G T 13: 100,452,512 (GRCm39) A183E probably benign Het
Neb T C 2: 52,040,589 (GRCm39) D6624G probably benign Het
Nup85 A G 11: 115,460,897 (GRCm39) D183G probably benign Het
Olfm5 A T 7: 103,803,652 (GRCm39) Y195* probably null Het
Or7g16 T A 9: 18,727,105 (GRCm39) M162L probably benign Het
Piezo2 A T 18: 63,216,016 (GRCm39) F1216I probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Polr1a T C 6: 71,892,126 (GRCm39) V135A probably benign Het
Prss21 A T 17: 24,088,425 (GRCm39) Q130L possibly damaging Het
Rdx T A 9: 51,977,088 (GRCm39) N112K probably damaging Het
Rgs22 A G 15: 36,082,057 (GRCm39) probably null Het
Rps23rg1 A G 8: 3,630,452 (GRCm39) probably benign Het
Rps26 C T 10: 128,461,995 (GRCm39) V40I probably benign Het
Runx2 A T 17: 44,919,123 (GRCm39) M405K probably damaging Het
Serinc2 A C 4: 130,169,280 (GRCm39) C4G unknown Het
Sh3rf2 C A 18: 42,244,235 (GRCm39) R266S probably benign Het
Slc38a10 A G 11: 120,007,822 (GRCm39) I386T possibly damaging Het
Stab2 G A 10: 86,708,483 (GRCm39) P1694L probably benign Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tasor G T 14: 27,198,600 (GRCm39) G1311C probably damaging Het
Tmem102 A G 11: 69,695,171 (GRCm39) V267A probably damaging Het
Trim65 A G 11: 116,021,755 (GRCm39) L26P probably damaging Het
Vmn1r160 T A 7: 22,571,379 (GRCm39) M244K possibly damaging Het
Vmn1r57 A T 7: 5,224,138 (GRCm39) H221L probably benign Het
Wdr89 C A 12: 75,679,673 (GRCm39) V194F probably damaging Het
Wee1 C A 7: 109,730,085 (GRCm39) Y396* probably null Het
Zfp451 A T 1: 33,812,060 (GRCm39) V885D probably damaging Het
Zfp981 A T 4: 146,622,333 (GRCm39) Q419H probably benign Het
Znfx1 A G 2: 166,881,747 (GRCm39) Y1081H probably damaging Het
Other mutations in Ppcdc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Ppcdc APN 9 57,322,423 (GRCm39) missense probably benign 0.00
R0945:Ppcdc UTSW 9 57,327,441 (GRCm39) splice site probably null
R1666:Ppcdc UTSW 9 57,321,998 (GRCm39) missense possibly damaging 0.91
R3684:Ppcdc UTSW 9 57,328,408 (GRCm39) critical splice donor site probably null
R4223:Ppcdc UTSW 9 57,321,998 (GRCm39) missense possibly damaging 0.91
R4821:Ppcdc UTSW 9 57,342,194 (GRCm39) missense probably benign 0.00
R5121:Ppcdc UTSW 9 57,328,446 (GRCm39) missense possibly damaging 0.56
R5236:Ppcdc UTSW 9 57,321,937 (GRCm39) missense probably benign 0.00
R7034:Ppcdc UTSW 9 57,322,453 (GRCm39) missense probably damaging 1.00
R7303:Ppcdc UTSW 9 57,321,958 (GRCm39) missense probably benign
R7591:Ppcdc UTSW 9 57,342,262 (GRCm39) missense probably damaging 1.00
R8942:Ppcdc UTSW 9 57,342,265 (GRCm39) missense probably benign 0.00
R8944:Ppcdc UTSW 9 57,342,265 (GRCm39) missense probably benign 0.00
R9324:Ppcdc UTSW 9 57,342,280 (GRCm39) missense probably benign
R9378:Ppcdc UTSW 9 57,327,571 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTTCAGCAGACTGGGAAC -3'
(R):5'- CGTTTAAAACATTTCTGGCTGGG -3'

Sequencing Primer
(F):5'- TCAGCAGACTGGGAACAAGGC -3'
(R):5'- AGAGTTCTTCTACTGGCTTGGACAAC -3'
Posted On 2019-12-20