Incidental Mutation 'IGL00939:Pccb'
| ID |
28187 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pccb
|
| Ensembl Gene |
ENSMUSG00000032527 |
| Gene Name |
propionyl Coenzyme A carboxylase, beta polypeptide |
| Synonyms |
1300012P06Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00939
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
100864085-100916951 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100867922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 372
(S372P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035116]
[ENSMUST00000149322]
|
| AlphaFold |
Q99MN9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035116
AA Change: S372P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035116
Gene: ENSMUSG00000032527
AA Change: S372P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:Carboxyl_trans
|
59 |
539 |
6.2e-197 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149322
AA Change: S335P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118006
Gene: ENSMUSG00000032527
AA Change: S335P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:Carboxyl_trans
|
59 |
187 |
2.3e-45 |
PFAM |
|
Pfam:Carboxyl_trans
|
183 |
502 |
2.7e-127 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149998
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
A |
5: 35,981,359 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,942,543 (GRCm39) |
V2061A |
probably damaging |
Het |
| Csnk1a1 |
A |
G |
18: 61,708,521 (GRCm39) |
D194G |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,570,971 (GRCm39) |
S1657T |
possibly damaging |
Het |
| Hcn4 |
A |
G |
9: 58,751,210 (GRCm39) |
I279V |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lamb1 |
T |
C |
12: 31,352,926 (GRCm39) |
S828P |
probably damaging |
Het |
| Morc1 |
G |
A |
16: 48,272,952 (GRCm39) |
C193Y |
probably damaging |
Het |
| Nudt16l1 |
T |
C |
16: 4,757,299 (GRCm39) |
F71L |
probably benign |
Het |
| Nup50 |
T |
G |
15: 84,822,621 (GRCm39) |
L381* |
probably null |
Het |
| Rnf19b |
A |
G |
4: 128,965,582 (GRCm39) |
R227G |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,298,423 (GRCm39) |
I599V |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,191,174 (GRCm39) |
|
probably benign |
Het |
| Sowahb |
A |
T |
5: 93,191,701 (GRCm39) |
D339E |
probably benign |
Het |
| Ssc5d |
C |
T |
7: 4,939,280 (GRCm39) |
T572I |
possibly damaging |
Het |
| Tnn |
A |
G |
1: 159,975,100 (GRCm39) |
L109P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,540,425 (GRCm39) |
Q34187R |
possibly damaging |
Het |
| Ube2j2 |
A |
G |
4: 156,040,904 (GRCm39) |
E177G |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,015,227 (GRCm39) |
T456A |
probably benign |
Het |
| Wdr1 |
T |
C |
5: 38,692,666 (GRCm39) |
T80A |
probably benign |
Het |
|
| Other mutations in Pccb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02101:Pccb
|
APN |
9 |
100,869,894 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02149:Pccb
|
APN |
9 |
100,867,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02938:Pccb
|
APN |
9 |
100,866,449 (GRCm39) |
missense |
probably benign |
0.35 |
|
PIT4402001:Pccb
|
UTSW |
9 |
100,877,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0446:Pccb
|
UTSW |
9 |
100,864,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2128:Pccb
|
UTSW |
9 |
100,867,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2292:Pccb
|
UTSW |
9 |
100,876,685 (GRCm39) |
missense |
probably benign |
|
|
R3056:Pccb
|
UTSW |
9 |
100,912,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4574:Pccb
|
UTSW |
9 |
100,867,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Pccb
|
UTSW |
9 |
100,916,832 (GRCm39) |
missense |
probably benign |
|
|
R5087:Pccb
|
UTSW |
9 |
100,867,296 (GRCm39) |
intron |
probably benign |
|
|
R5219:Pccb
|
UTSW |
9 |
100,867,262 (GRCm39) |
nonsense |
probably null |
|
|
R5586:Pccb
|
UTSW |
9 |
100,867,856 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5724:Pccb
|
UTSW |
9 |
100,869,900 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6813:Pccb
|
UTSW |
9 |
100,905,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6982:Pccb
|
UTSW |
9 |
100,905,349 (GRCm39) |
splice site |
probably null |
|
|
R7253:Pccb
|
UTSW |
9 |
100,913,966 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7535:Pccb
|
UTSW |
9 |
100,876,615 (GRCm39) |
splice site |
probably null |
|
|
R7795:Pccb
|
UTSW |
9 |
100,881,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7822:Pccb
|
UTSW |
9 |
100,909,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8298:Pccb
|
UTSW |
9 |
100,867,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8809:Pccb
|
UTSW |
9 |
100,867,220 (GRCm39) |
nonsense |
probably null |
|
|
R8888:Pccb
|
UTSW |
9 |
100,905,305 (GRCm39) |
splice site |
probably benign |
|
|
R9115:Pccb
|
UTSW |
9 |
100,869,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9260:Pccb
|
UTSW |
9 |
100,877,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9668:Pccb
|
UTSW |
9 |
100,876,634 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Posted On |
2013-04-17 |
Incidental Mutation