Mutagenetix > Incidental Mutation

Incidental Mutation 'R9378:Ppcdc'

709791

Institutional Source

Beutler Lab

Gene Symbol

Ppcdc

Ensembl Gene

ENSMUSG00000063849

Gene Name

phosphopantothenoylcysteine decarboxylase

Synonyms

8430432M10Rik, 1810057I13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R9378 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57292378-57347407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57327571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 79 (W79R)

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 damaging
Transcript: ENSMUST00000085709
AA Change: W79R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082856
Gene: ENSMUSG00000063849
AA Change: W79R

Domain	Start	End	E-Value	Type
Pfam:Flavoprotein	18	149	7.9e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213194

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213479
AA Change: W2R

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214065
AA Change: W79R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214144
AA Change: W79R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000214166

Predicted Effect

probably benign
Transcript: ENSMUST00000214339

Predicted Effect

probably benign
Transcript: ENSMUST00000214624

Predicted Effect

probably damaging
Transcript: ENSMUST00000215299
AA Change: W47R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000215883

Predicted Effect

probably damaging
Transcript: ENSMUST00000216365
AA Change: W79R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,735 (GRCm39)	K1047E	possibly damaging	Het
Aadacl2fm1	A	G	3: 59,839,110 (GRCm39)	T11A	possibly damaging	Het
Abca14	A	T	7: 119,807,191 (GRCm39)	Y79F	possibly damaging	Het
Abca2	T	A	2: 25,329,094 (GRCm39)	M978K	probably benign	Het
Adamts3	A	T	5: 89,848,269 (GRCm39)	C684*	probably null	Het
Adnp2	T	C	18: 80,172,637 (GRCm39)	T591A	probably benign	Het
Aff4	A	T	11: 53,263,306 (GRCm39)	T109S	probably damaging	Het
Agmo	A	G	12: 37,293,720 (GRCm39)	I48V	probably benign	Het
Appl1	G	A	14: 26,649,784 (GRCm39)	R581*	probably null	Het
Armc9	A	T	1: 86,189,766 (GRCm39)	M714L	probably benign	Het
Atp6v0d2	T	A	4: 19,922,377 (GRCm39)	T41S	probably benign	Het
Bin1	A	T	18: 32,552,921 (GRCm39)	Q182L	probably damaging	Het
Bmp10	A	G	6: 87,410,684 (GRCm39)	D159G	probably benign	Het
Bsn	G	A	9: 107,984,854 (GRCm39)	P295S	possibly damaging	Het
Cbx6	A	G	15: 79,712,606 (GRCm39)	S274P	probably damaging	Het
Cdc20b	A	G	13: 113,192,631 (GRCm39)	K108R	probably benign	Het
Ces1d	T	A	8: 93,912,724 (GRCm39)	N238I	probably damaging	Het
Col7a1	C	T	9: 108,787,708 (GRCm39)	Q663*	probably null	Het
Cpsf3	T	C	12: 21,358,039 (GRCm39)	I517T	possibly damaging	Het
Cyp2a5	C	A	7: 26,539,879 (GRCm39)	T309N	probably damaging	Het
Cyp2d40	A	G	15: 82,645,802 (GRCm39)	F68L	possibly damaging	Het
Cyp7b1	A	T	3: 18,150,837 (GRCm39)	W301R	probably damaging	Het
Dnah6	T	A	6: 73,189,513 (GRCm39)	N45I	probably benign	Het
Dnah7a	A	T	1: 53,621,776 (GRCm39)	H1116Q	probably benign	Het
Dntt	A	G	19: 41,027,356 (GRCm39)	N141S	probably benign	Het
Fbxl13	T	C	5: 21,790,201 (GRCm39)	N281D	probably damaging	Het
Frem2	A	T	3: 53,559,410 (GRCm39)	L1699H	probably damaging	Het
Gabrr3	T	C	16: 59,282,037 (GRCm39)	V464A	possibly damaging	Het
Gdap1	T	A	1: 17,227,353 (GRCm39)	I160N	probably damaging	Het
Hnrnpll	C	A	17: 80,369,291 (GRCm39)	R44L	unknown	Het
Hsp90ab1	T	C	17: 45,881,680 (GRCm39)	E187G	probably damaging	Het
Ighm	T	A	12: 113,386,210 (GRCm39)	T47S		Het
Itgb7	A	C	15: 102,135,831 (GRCm39)		probably null	Het
Kif16b	A	T	2: 142,461,738 (GRCm39)	C1293*	probably null	Het
Klf11	C	T	12: 24,705,043 (GRCm39)	R166C	probably benign	Het
Lca5l	T	A	16: 95,977,212 (GRCm39)	Q198L	probably damaging	Het
Lnx2	A	T	5: 146,961,180 (GRCm39)	M584K	probably benign	Het
Lpp	A	T	16: 24,540,737 (GRCm39)	M1L	probably benign	Het
Lrig3	A	G	10: 125,832,953 (GRCm39)	T276A	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Megf8	A	T	7: 25,039,840 (GRCm39)		probably null	Het
Myh1	A	C	11: 67,093,259 (GRCm39)	T117P	probably damaging	Het
Neb	C	A	2: 52,134,113 (GRCm39)	R3290L	possibly damaging	Het
Neb	A	C	2: 52,137,304 (GRCm39)	V220G		Het
Nktr	A	T	9: 121,577,264 (GRCm39)	K444I	probably damaging	Het
Nol11	A	T	11: 107,064,505 (GRCm39)	M483K	probably benign	Het
Npy1r	C	A	8: 67,156,861 (GRCm39)	P94T	probably damaging	Het
Nsmaf	T	C	4: 6,440,940 (GRCm39)	T37A	probably benign	Het
Or10ad1b	A	G	15: 98,124,920 (GRCm39)	L204P	possibly damaging	Het
Or2y3	G	A	17: 38,393,056 (GRCm39)	A271V	possibly damaging	Het
Or4c119	T	C	2: 88,987,399 (GRCm39)	N40S	probably damaging	Het
Or51v8	A	T	7: 103,319,389 (GRCm39)	M283K	probably damaging	Het
Or5w14	C	A	2: 87,541,423 (GRCm39)	V276F	possibly damaging	Het
Or8a1b	A	G	9: 37,623,473 (GRCm39)	I34T	probably damaging	Het
Or8b37	G	A	9: 37,958,775 (GRCm39)	V86M	possibly damaging	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Pcdha3	A	G	18: 37,080,284 (GRCm39)	D342G	probably damaging	Het
Pclo	G	A	5: 14,815,877 (GRCm39)	V1266I		Het
Pcnx4	T	C	12: 72,602,664 (GRCm39)	Y309H	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pdzrn3	T	G	6: 101,127,772 (GRCm39)	K965Q	probably damaging	Het
Phldb1	G	A	9: 44,615,425 (GRCm39)	A225V	probably benign	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Plat	A	G	8: 23,265,599 (GRCm39)	Y214C	probably damaging	Het
Plppr1	T	A	4: 49,325,627 (GRCm39)	C274*	probably null	Het
Poglut1	A	G	16: 38,347,133 (GRCm39)	F345L	possibly damaging	Het
Ppara	A	T	15: 85,661,837 (GRCm39)	E26V	possibly damaging	Het
Prdm1	C	T	10: 44,316,150 (GRCm39)	C662Y	probably damaging	Het
Sgms2	G	A	3: 131,136,011 (GRCm39)		probably benign	Het
Slc31a1	T	A	4: 62,306,843 (GRCm39)	M133K	probably damaging	Het
Smg1	G	A	7: 117,777,998 (GRCm39)	Q1309*	probably null	Het
Sos1	T	C	17: 80,761,239 (GRCm39)	I152M	probably damaging	Het
Stk4	A	T	2: 163,952,136 (GRCm39)		probably benign	Het
Syne1	T	G	10: 5,200,954 (GRCm39)	N3538T	probably damaging	Het
Tbc1d16	A	G	11: 119,099,666 (GRCm39)	F236S	probably damaging	Het
Tgs1	T	A	4: 3,595,475 (GRCm39)	M548K	probably benign	Het
Twf1	G	A	15: 94,483,336 (GRCm39)	T124I	probably damaging	Het
Tyro3	G	A	2: 119,642,648 (GRCm39)	G611R	probably damaging	Het
Unc13b	T	A	4: 43,173,282 (GRCm39)	I1370K	unknown	Het
Usp40	A	G	1: 87,885,032 (GRCm39)	W939R	probably damaging	Het
Vamp8	A	T	6: 72,362,554 (GRCm39)	V82E	probably damaging	Het
Vmn2r17	A	G	5: 109,575,732 (GRCm39)	H201R	possibly damaging	Het
Whrn	T	C	4: 63,350,079 (GRCm39)	H546R	probably benign	Het
Yeats2	T	C	16: 20,033,228 (GRCm39)	V1036A	probably benign	Het
Zfp352	T	G	4: 90,112,575 (GRCm39)	N238K	probably benign	Het
Zfp36l3	TCCAGGGGCGAGGGCAGCCCCAGGAGCAAGGGCCGCCCTAGGAATGAGGGCCGCCCCAGG	TCCAGG	X: 52,776,521 (GRCm39)		probably benign	Het
Zfp462	T	A	4: 55,011,510 (GRCm39)	S1159T	probably benign	Het
Zscan4-ps1	A	T	7: 10,800,192 (GRCm39)	H232Q	probably benign	Het

Other mutations in Ppcdc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8944:Ppcdc	UTSW	9	57,342,265 (GRCm39)	missense	probably benign	0.00
R9324:Ppcdc	UTSW	9	57,342,280 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCAGCAGACTGGGAACAAG -3'
(R):5'- AAACATTTCTGGCTGGGCTG -3'

Sequencing Primer
(F):5'- CAAGGCTGGAGAGAACAGACACC -3'
(R):5'- AGAGTTCTTCTACTGGCTTGGACAAC -3'

Posted On

2022-04-18