Incidental Mutation 'R0945:Ppcdc'
| ID |
82066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppcdc
|
| Ensembl Gene |
ENSMUSG00000063849 |
| Gene Name |
phosphopantothenoylcysteine decarboxylase |
| Synonyms |
8430432M10Rik, 1810057I13Rik |
| MMRRC Submission |
039084-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R0945 (G1)
|
| Quality Score |
181 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
57292378-57347407 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 57327441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085709]
[ENSMUST00000213194]
[ENSMUST00000213479]
[ENSMUST00000214065]
[ENSMUST00000214144]
[ENSMUST00000214166]
[ENSMUST00000214339]
[ENSMUST00000216365]
[ENSMUST00000215299]
[ENSMUST00000215883]
[ENSMUST00000214624]
|
| AlphaFold |
Q8BZB2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000085709
|
| SMART Domains |
Protein: ENSMUSP00000082856
Gene: ENSMUSG00000063849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Flavoprotein
|
18 |
149 |
7.9e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213194
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213479
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000214065
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000214144
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214166
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214339
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216365
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215961
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217255
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215299
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215883
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214519
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.1%
- 20x: 96.8%
|
| Validation Efficiency |
98% (44/45) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
A |
G |
16: 35,110,481 (GRCm39) |
M883V |
probably benign |
Het |
| Allc |
A |
G |
12: 28,609,962 (GRCm39) |
S212P |
probably benign |
Het |
| Anxa10 |
A |
G |
8: 62,513,279 (GRCm39) |
|
probably benign |
Het |
| Apoa2 |
A |
G |
1: 171,053,268 (GRCm39) |
|
probably null |
Het |
| Arfgef2 |
T |
C |
2: 166,668,889 (GRCm39) |
|
probably benign |
Het |
| Arhgap30 |
G |
T |
1: 171,230,854 (GRCm39) |
V204L |
probably damaging |
Het |
| Cd109 |
T |
A |
9: 78,596,223 (GRCm39) |
V852E |
possibly damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,481,269 (GRCm39) |
Y339N |
probably damaging |
Het |
| Chaf1a |
A |
G |
17: 56,374,441 (GRCm39) |
D876G |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,659,630 (GRCm39) |
K197E |
possibly damaging |
Het |
| Cnr2 |
A |
T |
4: 135,644,632 (GRCm39) |
M237L |
probably benign |
Het |
| Dnm2 |
C |
A |
9: 21,416,956 (GRCm39) |
Q830K |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,310,500 (GRCm39) |
L1615P |
probably damaging |
Het |
| Eid1 |
A |
G |
2: 125,515,497 (GRCm39) |
D129G |
probably damaging |
Het |
| Exoc5 |
A |
G |
14: 49,276,799 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,723,803 (GRCm39) |
Y1854C |
probably benign |
Het |
| Il15ra |
T |
A |
2: 11,723,138 (GRCm39) |
V54E |
probably damaging |
Het |
| Il4i1 |
G |
A |
7: 44,489,128 (GRCm39) |
V306M |
probably damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,837,921 (GRCm39) |
D211G |
probably benign |
Het |
| Miga1 |
A |
T |
3: 152,023,300 (GRCm39) |
F250L |
possibly damaging |
Het |
| Myrfl |
C |
T |
10: 116,639,299 (GRCm39) |
|
probably benign |
Het |
| Nell1 |
A |
G |
7: 49,869,333 (GRCm39) |
I203V |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or14j9 |
G |
A |
17: 37,874,278 (GRCm39) |
T308I |
probably benign |
Het |
| Or4a15 |
T |
C |
2: 89,193,599 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or52u1 |
T |
A |
7: 104,237,879 (GRCm39) |
N289K |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,675,296 (GRCm39) |
L345P |
probably damaging |
Het |
| Pex3 |
C |
A |
10: 13,418,420 (GRCm39) |
A79S |
probably benign |
Het |
| Pla2r1 |
A |
C |
2: 60,288,754 (GRCm39) |
L626R |
possibly damaging |
Het |
| Plcb3 |
A |
G |
19: 6,932,246 (GRCm39) |
S1107P |
probably damaging |
Het |
| Rbak |
A |
T |
5: 143,159,334 (GRCm39) |
F573Y |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,436,052 (GRCm39) |
|
probably null |
Het |
| Rpl13 |
C |
T |
8: 123,831,913 (GRCm39) |
A203V |
possibly damaging |
Het |
| Scn8a |
A |
G |
15: 100,913,668 (GRCm39) |
H1020R |
possibly damaging |
Het |
| Slf1 |
A |
G |
13: 77,251,590 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
A |
G |
16: 90,757,333 (GRCm39) |
L905S |
possibly damaging |
Het |
| Tmem59 |
T |
A |
4: 107,044,922 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Uri1 |
A |
T |
7: 37,669,103 (GRCm39) |
D127E |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,269,476 (GRCm39) |
E489G |
probably damaging |
Het |
| Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
| Zfp941 |
C |
T |
7: 140,391,577 (GRCm39) |
R594H |
probably damaging |
Het |
| Zfy1 |
T |
C |
Y: 725,983 (GRCm39) |
D594G |
probably damaging |
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 |
|
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 |
|
|
R9378:Ppcdc
|
UTSW |
9 |
57,327,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGGGGAGCTACTCGATAGACC -3'
(R):5'- TCCTCATGCACATACTGAGAGGGAC -3'
Sequencing Primer
(F):5'- CGATAGACCCGAATCTCATGGTG -3'
(R):5'- ACTGGATTGGTGACCCCATTTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation