Incidental Mutation 'R2292:Pccb'
ID |
245044 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pccb
|
Ensembl Gene |
ENSMUSG00000032527 |
Gene Name |
propionyl Coenzyme A carboxylase, beta polypeptide |
Synonyms |
1300012P06Rik |
MMRRC Submission |
040291-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2292 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
100864085-100916951 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100876685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 266
(E266G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118006
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035116]
[ENSMUST00000142676]
[ENSMUST00000149322]
|
AlphaFold |
Q99MN9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035116
AA Change: E303G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000035116 Gene: ENSMUSG00000032527 AA Change: E303G
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: ENSMUST00000142676
|
SMART Domains |
Protein: ENSMUSP00000123421 Gene: ENSMUSG00000032527
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
Pfam:Carboxyl_trans
|
52 |
256 |
3.2e-79 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149322
AA Change: E266G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118006 Gene: ENSMUSG00000032527 AA Change: E266G
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 |
|
Meta Mutation Damage Score |
0.1742 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
Validation Efficiency |
100% (44/44) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
C |
2: 68,562,483 (GRCm39) |
I370T |
probably benign |
Het |
A2m |
A |
G |
6: 121,650,518 (GRCm39) |
T1209A |
possibly damaging |
Het |
Als2 |
T |
C |
1: 59,226,544 (GRCm39) |
Q920R |
probably damaging |
Het |
Arhgap20 |
T |
A |
9: 51,760,743 (GRCm39) |
Y829N |
possibly damaging |
Het |
Arhgap35 |
A |
T |
7: 16,297,476 (GRCm39) |
F530I |
probably damaging |
Het |
Arid4a |
G |
T |
12: 71,108,315 (GRCm39) |
G40V |
probably damaging |
Het |
Ascc2 |
T |
C |
11: 4,629,352 (GRCm39) |
|
probably benign |
Het |
Cacna1b |
C |
T |
2: 24,496,632 (GRCm39) |
V2312I |
probably benign |
Het |
Dctn6 |
T |
C |
8: 34,559,679 (GRCm39) |
T159A |
probably benign |
Het |
Ddx55 |
G |
T |
5: 124,706,140 (GRCm39) |
A522S |
probably benign |
Het |
Dnah6 |
G |
A |
6: 72,998,092 (GRCm39) |
T4110I |
probably damaging |
Het |
Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
Dym |
A |
G |
18: 75,332,283 (GRCm39) |
T504A |
possibly damaging |
Het |
E130308A19Rik |
T |
C |
4: 59,690,579 (GRCm39) |
Y138H |
probably damaging |
Het |
Fgd4 |
A |
T |
16: 16,253,864 (GRCm39) |
C568S |
possibly damaging |
Het |
Fkbp4 |
A |
C |
6: 128,413,625 (GRCm39) |
V6G |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,127,984 (GRCm39) |
S2299C |
unknown |
Het |
Gdf2 |
A |
T |
14: 33,667,145 (GRCm39) |
N289I |
possibly damaging |
Het |
Gpr182 |
A |
G |
10: 127,586,051 (GRCm39) |
I300T |
possibly damaging |
Het |
Iqcg |
A |
G |
16: 32,870,253 (GRCm39) |
V80A |
probably benign |
Het |
Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
Lyst |
T |
G |
13: 13,915,080 (GRCm39) |
F3258C |
probably damaging |
Het |
Map3k12 |
T |
C |
15: 102,408,574 (GRCm39) |
E870G |
probably damaging |
Het |
Mphosph10 |
G |
A |
7: 64,035,519 (GRCm39) |
P384L |
probably damaging |
Het |
Ncoa4 |
T |
G |
14: 31,895,413 (GRCm39) |
L179R |
probably damaging |
Het |
Nlrp1c-ps |
A |
G |
11: 71,137,188 (GRCm39) |
|
noncoding transcript |
Het |
Nwd2 |
A |
T |
5: 63,962,917 (GRCm39) |
M834L |
probably benign |
Het |
Or10a49 |
A |
T |
7: 108,468,223 (GRCm39) |
M46K |
probably benign |
Het |
Or2w6 |
A |
G |
13: 21,843,001 (GRCm39) |
M164T |
probably damaging |
Het |
Pcdhb2 |
T |
A |
18: 37,430,297 (GRCm39) |
|
probably null |
Het |
Pramel25 |
T |
C |
4: 143,520,446 (GRCm39) |
I66T |
probably benign |
Het |
Prdm13 |
A |
C |
4: 21,683,914 (GRCm39) |
I119S |
unknown |
Het |
Tchh |
A |
G |
3: 93,349,689 (GRCm39) |
Y18C |
probably damaging |
Het |
Tmem192 |
T |
C |
8: 65,411,998 (GRCm39) |
V59A |
probably damaging |
Het |
Trak2 |
A |
T |
1: 58,974,916 (GRCm39) |
F92Y |
probably damaging |
Het |
Trappc11 |
C |
T |
8: 47,958,771 (GRCm39) |
G40D |
probably damaging |
Het |
Ttc23 |
A |
T |
7: 67,319,535 (GRCm39) |
I132F |
probably benign |
Het |
Ttc9b |
A |
G |
7: 27,355,405 (GRCm39) |
D225G |
probably benign |
Het |
Ubr3 |
G |
T |
2: 69,727,604 (GRCm39) |
|
probably benign |
Het |
Vmn2r75 |
A |
C |
7: 85,798,144 (GRCm39) |
C556W |
probably damaging |
Het |
Zbtb41 |
T |
C |
1: 139,368,097 (GRCm39) |
V595A |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGCAAACGTTGAGACCAAG -3'
(R):5'- CCATTCTGGAAGGGCAAAGG -3'
Sequencing Primer
(F):5'- ACGTTGAGACCAAGCTGAAC -3'
(R):5'- TTCTGGAAGGGCAAAGGCAAAC -3'
|
Posted On |
2014-10-30 |