Incidental Mutation 'R8944:Ppcdc'
ID 681173
Institutional Source Beutler Lab
Gene Symbol Ppcdc
Ensembl Gene ENSMUSG00000063849
Gene Name phosphopantothenoylcysteine decarboxylase
Synonyms 8430432M10Rik, 1810057I13Rik
MMRRC Submission 068783-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R8944 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 57292378-57347407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57342265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 19 (R19H)
Ref Sequence ENSEMBL: ENSMUSP00000150210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085709] [ENSMUST00000213194] [ENSMUST00000214065] [ENSMUST00000214144] [ENSMUST00000214166] [ENSMUST00000214339] [ENSMUST00000214624] [ENSMUST00000215299] [ENSMUST00000215883] [ENSMUST00000216365]
AlphaFold Q8BZB2
Predicted Effect probably benign
Transcript: ENSMUST00000085709
AA Change: R19H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082856
Gene: ENSMUSG00000063849
AA Change: R19H

DomainStartEndE-ValueType
Pfam:Flavoprotein 18 149 7.9e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213194
AA Change: R19H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000214065
AA Change: R19H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000214144
AA Change: R19H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000214166
AA Change: R19H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000214339
AA Change: R19H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000214624
AA Change: R19H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215299
AA Change: R19H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000215883
AA Change: R19H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000216365
AA Change: R19H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (88/88)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A T 11: 72,049,851 (GRCm39) probably benign Het
A830018L16Rik A T 1: 11,484,706 (GRCm39) probably benign Het
Acox1 C T 11: 116,066,040 (GRCm39) R454H probably damaging Het
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Adam18 A G 8: 25,164,703 (GRCm39) L4P probably damaging Het
AI182371 A C 2: 34,990,622 (GRCm39) L25R probably damaging Het
Ankrd12 A C 17: 66,277,195 (GRCm39) Y2026* probably null Het
Atad5 C T 11: 79,986,524 (GRCm39) T537M possibly damaging Het
Atosa A G 9: 74,911,562 (GRCm39) Y11C probably damaging Het
Avil G T 10: 126,846,455 (GRCm39) G420V probably damaging Het
Bche A T 3: 73,608,008 (GRCm39) F473I probably damaging Het
Borcs5 T C 6: 134,621,437 (GRCm39) probably null Het
C4b T C 17: 34,961,913 (GRCm39) Q111R probably benign Het
Carmil2 T A 8: 106,417,437 (GRCm39) I565N probably damaging Het
Cd74 T C 18: 60,943,127 (GRCm39) M155T probably damaging Het
Chrnd G T 1: 87,119,997 (GRCm39) R105L probably damaging Het
Clpp G T 17: 57,300,553 (GRCm39) E217* probably null Het
Cpq T A 15: 33,594,269 (GRCm39) Y427N probably damaging Het
Crxos G A 7: 15,636,900 (GRCm39) E54K possibly damaging Het
Dcaf13 A G 15: 39,001,612 (GRCm39) R307G possibly damaging Het
Ddx55 A G 5: 124,706,788 (GRCm39) D595G probably damaging Het
Dld T A 12: 31,390,868 (GRCm39) I193F possibly damaging Het
Dnah11 T G 12: 118,091,381 (GRCm39) E917A possibly damaging Het
Dnai2 T A 11: 114,641,302 (GRCm39) Y376N possibly damaging Het
Dock7 A G 4: 98,829,243 (GRCm39) Y2078H probably damaging Het
Dusp4 A T 8: 35,274,941 (GRCm39) N20I probably benign Het
Dzank1 A G 2: 144,333,729 (GRCm39) L367P probably benign Het
Eea1 T A 10: 95,832,822 (GRCm39) D222E probably damaging Het
Erich3 G C 3: 154,462,692 (GRCm39) R742S Het
Erich6 C T 3: 58,537,275 (GRCm39) M246I probably benign Het
Galnt16 T G 12: 80,623,314 (GRCm39) I158S probably damaging Het
Gm28363 A G 1: 117,655,080 (GRCm39) T100A possibly damaging Het
Gm8257 A T 14: 44,893,849 (GRCm39) Y36N probably damaging Het
Gmpr2 T C 14: 55,913,149 (GRCm39) V142A possibly damaging Het
Grid2ip T C 5: 143,366,260 (GRCm39) probably null Het
Hamp2 A G 7: 30,622,001 (GRCm39) F63L possibly damaging Het
Hmga2 T C 10: 120,309,159 (GRCm39) K66E probably damaging Het
Hspa1a T C 17: 35,190,019 (GRCm39) T295A probably benign Het
Ift74 G A 4: 94,510,128 (GRCm39) G53D probably damaging Het
Ighv6-7 T C 12: 114,419,703 (GRCm39) M1V probably null Het
Ints4 T A 7: 97,183,593 (GRCm39) D769E probably benign Het
Kif7 G A 7: 79,360,005 (GRCm39) R411C probably damaging Het
Klhl30 T A 1: 91,287,174 (GRCm39) Y487N probably damaging Het
Kras T C 6: 145,170,853 (GRCm39) E174G probably benign Het
Krt84 T C 15: 101,437,183 (GRCm39) I327V probably benign Het
Lamb3 T A 1: 193,014,525 (GRCm39) C561* probably null Het
Lmbrd1 A G 1: 24,767,407 (GRCm39) probably benign Het
Lmnb1 T A 18: 56,876,331 (GRCm39) S480T probably benign Het
Lrp2 C T 2: 69,341,348 (GRCm39) G944D probably damaging Het
Mta3 G A 17: 84,083,146 (GRCm39) E280K probably damaging Het
Muc5b A T 7: 141,421,115 (GRCm39) I4236F Het
Myh9 T C 15: 77,655,432 (GRCm39) T1175A probably benign Het
Myt1l T A 12: 29,861,564 (GRCm39) D115E unknown Het
Naa25 A G 5: 121,552,573 (GRCm39) N167D probably benign Het
Ncam1 G A 9: 49,431,493 (GRCm39) P648L probably damaging Het
Or2t26 T C 11: 49,039,266 (GRCm39) Y61H probably damaging Het
Or2t44 A T 11: 58,677,519 (GRCm39) D153V probably damaging Het
P3h3 G T 6: 124,832,196 (GRCm39) A230E possibly damaging Het
Pacs2 A G 12: 113,020,476 (GRCm39) E253G probably damaging Het
Pbld1 A T 10: 62,901,648 (GRCm39) D57V probably benign Het
Pcsk5 T C 19: 17,452,275 (GRCm39) T1077A probably damaging Het
Pou4f2 T A 8: 79,161,932 (GRCm39) M224L Het
Ppp1r10 T A 17: 36,241,018 (GRCm39) M640K probably benign Het
Prdx6 A T 1: 161,069,432 (GRCm39) probably benign Het
Rab40b A G 11: 121,250,384 (GRCm39) probably null Het
Rassf9 T A 10: 102,381,329 (GRCm39) M237K probably benign Het
Rbbp8nl G T 2: 179,919,769 (GRCm39) Y604* probably null Het
Reep2 G T 18: 34,975,929 (GRCm39) W42L possibly damaging Het
Serpinb6e A T 13: 34,017,261 (GRCm39) M253K probably damaging Het
Shank2 A G 7: 143,623,927 (GRCm39) Q304R probably damaging Het
Slk T C 19: 47,600,057 (GRCm39) M120T probably damaging Het
Spata31e5 T C 1: 28,816,155 (GRCm39) I626V probably benign Het
Sphkap T A 1: 83,256,927 (GRCm39) H274L probably benign Het
Stc1 T G 14: 69,269,884 (GRCm39) F155V possibly damaging Het
Tbc1d12 A G 19: 38,899,510 (GRCm39) T477A probably damaging Het
Tmem19 T A 10: 115,183,671 (GRCm39) I54F possibly damaging Het
Tmem62 G A 2: 120,817,316 (GRCm39) probably null Het
Ttc6 A T 12: 57,689,826 (GRCm39) R505S Het
Ttn G T 2: 76,623,184 (GRCm39) R15418S probably damaging Het
Ugt2a3 C A 5: 87,473,417 (GRCm39) C500F possibly damaging Het
Ugt2b35 T C 5: 87,149,310 (GRCm39) F187S probably benign Het
Ung T A 5: 114,269,456 (GRCm39) I56N probably damaging Het
Vmn1r17 G T 6: 57,338,142 (GRCm39) F25L probably benign Het
Vmn1r29 C A 6: 58,284,274 (GRCm39) probably benign Het
Vps26c T A 16: 94,302,481 (GRCm39) I242F probably benign Het
Wdhd1 T C 14: 47,504,470 (GRCm39) D368G probably benign Het
Wdr3 A T 3: 100,057,259 (GRCm39) I448N probably damaging Het
Wdr47 T A 3: 108,550,480 (GRCm39) M835K possibly damaging Het
Wt1 G A 2: 104,957,584 (GRCm39) G10D possibly damaging Het
Zdhhc19 G A 16: 32,316,500 (GRCm39) G85D 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
R7835:Ppcdc UTSW 9 57,327,559 (GRCm39) missense probably benign 0.02
R8942: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'- GGATCTCCTTCTATACAGACCAGG -3'
(R):5'- TGGGACTTTTAAAGCCCACAG -3'

Sequencing Primer
(F):5'- CCTTCTATACAGACCAGGATTAAGGG -3'
(R):5'- GCAACTCCGGCATTTAGATG -3'
Posted On 2021-08-31