Incidental Mutation 'IGL02101:Pccb'
ID |
279751 |
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 # |
IGL02101
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
100864085-100916951 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100869894 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 346
(F346L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035116
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035116]
[ENSMUST00000149322]
|
AlphaFold |
Q99MN9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035116
AA Change: F346L
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000035116 Gene: ENSMUSG00000032527 AA Change: F346L
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 benign
Transcript: ENSMUST00000149322
AA Change: F309L
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000118006 Gene: ENSMUSG00000032527 AA Change: F309L
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd163 |
T |
A |
6: 124,284,246 (GRCm39) |
C139* |
probably null |
Het |
Ces2g |
A |
G |
8: 105,691,769 (GRCm39) |
|
probably null |
Het |
Ckap5 |
T |
C |
2: 91,402,885 (GRCm39) |
|
probably benign |
Het |
Cmtm7 |
T |
C |
9: 114,592,336 (GRCm39) |
H87R |
probably damaging |
Het |
Dennd3 |
A |
G |
15: 73,399,794 (GRCm39) |
D220G |
possibly damaging |
Het |
Dpp10 |
T |
C |
1: 123,339,555 (GRCm39) |
Y324C |
probably damaging |
Het |
Dsc3 |
C |
T |
18: 20,134,963 (GRCm39) |
R7Q |
probably benign |
Het |
Ezh1 |
T |
C |
11: 101,086,392 (GRCm39) |
K598E |
possibly damaging |
Het |
Ighv7-3 |
A |
G |
12: 114,117,045 (GRCm39) |
L39P |
probably damaging |
Het |
Il1rap |
T |
A |
16: 26,442,932 (GRCm39) |
S9R |
possibly damaging |
Het |
Mrgpra3 |
A |
G |
7: 47,239,300 (GRCm39) |
C209R |
probably damaging |
Het |
Oc90 |
G |
T |
15: 65,769,638 (GRCm39) |
P73Q |
probably damaging |
Het |
Or2m12 |
T |
C |
16: 19,105,363 (GRCm39) |
I43M |
probably benign |
Het |
Or3a1b |
G |
A |
11: 74,012,571 (GRCm39) |
W152* |
probably null |
Het |
Pdxdc1 |
A |
G |
16: 13,687,720 (GRCm39) |
I225T |
probably damaging |
Het |
Pold3 |
A |
T |
7: 99,749,703 (GRCm39) |
M154K |
probably damaging |
Het |
Polr1a |
T |
G |
6: 71,927,786 (GRCm39) |
C846G |
probably benign |
Het |
Ppip5k1 |
C |
A |
2: 121,162,089 (GRCm39) |
R978L |
possibly damaging |
Het |
Ptpn4 |
A |
G |
1: 119,615,408 (GRCm39) |
V582A |
probably damaging |
Het |
Sez6l |
G |
T |
5: 112,620,612 (GRCm39) |
Q323K |
probably damaging |
Het |
Slc27a5 |
A |
T |
7: 12,727,270 (GRCm39) |
I384N |
possibly damaging |
Het |
Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
Slc7a2 |
T |
C |
8: 41,355,631 (GRCm39) |
F227L |
probably benign |
Het |
Smad4 |
C |
A |
18: 73,791,723 (GRCm39) |
A273S |
probably benign |
Het |
Spata17 |
T |
C |
1: 186,849,657 (GRCm39) |
I84V |
probably benign |
Het |
Sphkap |
T |
C |
1: 83,268,708 (GRCm39) |
T95A |
probably damaging |
Het |
Tie1 |
T |
C |
4: 118,329,995 (GRCm39) |
D1076G |
probably benign |
Het |
|
Other mutations in Pccb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00939:Pccb
|
APN |
9 |
100,867,922 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |