Mutagenetix > Incidental Mutation

Incidental Mutation 'R6774:Ppcs'

532277

Institutional Source

Beutler Lab

Gene Symbol

Ppcs

Ensembl Gene

ENSMUSG00000028636

Gene Name

phosphopantothenoylcysteine synthetase

Synonyms

6330579B17Rik

MMRRC Submission

044890-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R6774 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119275727-119279617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119276285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 100 (D100G)

Ref Sequence

ENSEMBL: ENSMUSP00000101923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030385] [ENSMUST00000063642] [ENSMUST00000094819] [ENSMUST00000106316]

AlphaFold

Q8VDG5

Predicted Effect

probably damaging
Transcript: ENSMUST00000030385
AA Change: D273G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030385
Gene: ENSMUSG00000028636
AA Change: D273G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000106316
AA Change: D100G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101923
Gene: ENSMUSG00000028636
AA Change: D100G

Domain	Start	End	E-Value	Type
Pfam:DFP	1	107	5.2e-14	PFAM

Meta Mutation Damage Score

0.4281

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

98% (53/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,163,908 (GRCm39)	I822N	probably damaging	Het
9930111J21Rik1	A	G	11: 48,838,143 (GRCm39)	S815P	possibly damaging	Het
A430033K04Rik	A	G	5: 138,644,712 (GRCm39)	Y199C	probably benign	Het
Adam34l	T	A	8: 44,078,220 (GRCm39)	H668L	probably benign	Het
Afap1l1	A	T	18: 61,888,732 (GRCm39)	V113E	probably benign	Het
Ahnak2	C	T	12: 112,740,172 (GRCm39)	C494Y	possibly damaging	Het
Atr	A	T	9: 95,809,266 (GRCm39)	E1981D	probably benign	Het
Bmp7	A	G	2: 172,714,751 (GRCm39)	Y353H	probably damaging	Het
Capn11	C	T	17: 45,968,256 (GRCm39)		probably benign	Het
Ccdc103	T	C	11: 102,773,519 (GRCm39)	F47S	probably damaging	Het
Cmas	A	G	6: 142,710,147 (GRCm39)	Y130C	possibly damaging	Het
Cntn5	T	C	9: 10,144,222 (GRCm39)	Y149C	probably damaging	Het
Col12a1	A	C	9: 79,613,619 (GRCm39)	S75R	possibly damaging	Het
Crat	G	A	2: 30,303,195 (GRCm39)	H31Y	probably damaging	Het
Dnah7a	A	G	1: 53,737,810 (GRCm39)	V41A	probably benign	Het
F5	C	T	1: 164,014,447 (GRCm39)	R573C	probably damaging	Het
Gcc2	A	G	10: 58,117,261 (GRCm39)	N1170S	possibly damaging	Het
Gm29666	A	T	15: 84,798,260 (GRCm39)	C100*	probably null	Het
Gm3573	A	T	14: 42,009,472 (GRCm39)	Y158N	possibly damaging	Het
Gtf3c1	G	T	7: 125,240,793 (GRCm39)	A1968E	possibly damaging	Het
Heg1	C	A	16: 33,558,638 (GRCm39)	T815K	probably damaging	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Kif17	A	G	4: 138,002,306 (GRCm39)	Y170C	probably damaging	Het
Kti12	G	A	4: 108,705,652 (GRCm39)	G189R	probably benign	Het
Lrp4	G	A	2: 91,341,849 (GRCm39)	A1821T	probably benign	Het
Mamdc4	T	C	2: 25,456,948 (GRCm39)	I610V	probably benign	Het
Mmp1b	T	C	9: 7,387,914 (GRCm39)	K27E	probably benign	Het
Mob4	A	G	1: 55,187,588 (GRCm39)		probably null	Het
Myc	G	A	15: 61,860,128 (GRCm39)		probably null	Het
Myo5c	A	T	9: 75,196,468 (GRCm39)	I1305F	probably benign	Het
Nprl3	A	G	11: 32,187,381 (GRCm39)	V292A	probably damaging	Het
Ntng2	T	C	2: 29,087,102 (GRCm39)	T373A	probably damaging	Het
Or1f19	T	A	16: 3,410,380 (GRCm39)	V40D	probably damaging	Het
Or4a67	C	T	2: 88,598,228 (GRCm39)	V144I	probably benign	Het
Or5p50	T	A	7: 107,422,395 (GRCm39)	T94S	probably benign	Het
Or7e171-ps1	A	T	9: 19,853,070 (GRCm39)	L222H	unknown	Het
Pard3	T	C	8: 128,137,228 (GRCm39)	L859P	probably damaging	Het
Prkdc	G	T	16: 15,543,325 (GRCm39)		probably null	Het
Pwwp2b	T	C	7: 138,835,903 (GRCm39)	V448A	probably benign	Het
Rapgef4	A	G	2: 72,056,119 (GRCm39)	K624R	probably benign	Het
Spata31e5	A	T	1: 28,815,974 (GRCm39)	I686N	probably benign	Het
Synj2	C	T	17: 6,088,290 (GRCm39)	S1447L	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tnxb	C	A	17: 34,928,606 (GRCm39)	Y2673*	probably null	Het
Trim27	T	A	13: 21,376,624 (GRCm39)	H457Q	probably damaging	Het
Trim72	T	G	7: 127,609,558 (GRCm39)	F453L	probably damaging	Het
Ubr5	A	T	15: 38,015,379 (GRCm39)	M877K	probably damaging	Het
Usp10	T	C	8: 120,678,711 (GRCm39)	L564P	probably benign	Het
Usp54	A	G	14: 20,627,296 (GRCm39)	V454A	probably damaging	Het
Uspl1	T	A	5: 149,150,904 (GRCm39)	D701E	probably benign	Het
Vmn2r103	A	G	17: 19,993,773 (GRCm39)	H50R	probably benign	Het
Zfp35	G	A	18: 24,136,015 (GRCm39)	V120I	possibly damaging	Het
Zfp712	T	C	13: 67,189,568 (GRCm39)	T320A	probably benign	Het

Other mutations in Ppcs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TGCACACCGCGTTTACTATC -3'
(R):5'- GCCAAAGATGCTTTCCCCTC -3'

Sequencing Primer
(F):5'- CACTGTGTTGATCCTTAACAGAGG -3'
(R):5'- TCTGGTCAAAGACTGGGCTC -3'

Posted On

2018-08-29