Incidental Mutation 'PIT4402001:Pccb'
| ID |
555530 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4402001 (G1)
|
| Quality Score |
136.008 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
100864085-100916951 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 100877645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 286
(D286E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035116]
[ENSMUST00000142676]
[ENSMUST00000149322]
|
| AlphaFold |
Q99MN9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035116
AA Change: D286E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000035116
Gene: ENSMUSG00000032527
AA Change: D286E
| 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
AA Change: D246E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000123421
Gene: ENSMUSG00000032527
AA Change: D246E
| 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: D249E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000118006
Gene: ENSMUSG00000032527
AA Change: D249E
| 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 |
|
| Coding Region Coverage |
- 1x: 92.8%
- 3x: 90.3%
- 10x: 83.2%
- 20x: 68.1%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
G |
14: 59,380,084 (GRCm39) |
L71F |
probably damaging |
Het |
| Adamts9 |
C |
T |
6: 92,849,328 (GRCm39) |
V1044I |
probably benign |
Het |
| Alcam |
T |
C |
16: 52,115,497 (GRCm39) |
Y207C |
probably damaging |
Het |
| Aldh4a1 |
C |
A |
4: 139,369,502 (GRCm39) |
S351* |
probably null |
Het |
| Aoah |
C |
A |
13: 20,978,680 (GRCm39) |
S39R |
probably benign |
Het |
| Arcn1 |
A |
T |
9: 44,656,899 (GRCm39) |
V421E |
possibly damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,306,485 (GRCm39) |
E300G |
possibly damaging |
Het |
| Cdk2ap2 |
C |
A |
19: 4,148,557 (GRCm39) |
R126S |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,668,276 (GRCm39) |
I39V |
probably benign |
Het |
| Fam53b |
A |
T |
7: 132,361,746 (GRCm39) |
I94N |
probably damaging |
Het |
| Fam83g |
A |
G |
11: 61,594,422 (GRCm39) |
H652R |
probably damaging |
Het |
| Fanca |
A |
T |
8: 124,039,803 (GRCm39) |
M157K |
possibly damaging |
Het |
| Flt1 |
A |
T |
5: 147,615,049 (GRCm39) |
I299N |
probably damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gns |
A |
G |
10: 121,212,611 (GRCm39) |
Y191C |
probably damaging |
Het |
| Grin2a |
T |
C |
16: 9,462,063 (GRCm39) |
T690A |
possibly damaging |
Het |
| Gsk3b |
C |
T |
16: 37,909,763 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,233,000 (GRCm39) |
V1911A |
probably benign |
Het |
| Igsf3 |
A |
G |
3: 101,334,393 (GRCm39) |
K157E |
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,091,369 (GRCm39) |
Y118H |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,752,359 (GRCm39) |
V1413A |
unknown |
Het |
| Mettl9 |
T |
A |
7: 120,656,440 (GRCm39) |
V190E |
probably damaging |
Het |
| Mrps9 |
T |
C |
1: 42,935,258 (GRCm39) |
L188P |
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,777,719 (GRCm39) |
R1158S |
possibly damaging |
Het |
| Nacad |
T |
G |
11: 6,548,621 (GRCm39) |
Q1371P |
probably benign |
Het |
| Ncoa1 |
T |
C |
12: 4,344,987 (GRCm39) |
M787V |
probably benign |
Het |
| Noxred1 |
A |
T |
12: 87,273,855 (GRCm39) |
I62K |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,316 (GRCm39) |
H86L |
probably benign |
Het |
| Or2d3b |
T |
A |
7: 106,514,294 (GRCm39) |
D296E |
possibly damaging |
Het |
| Or2y17 |
A |
G |
11: 49,232,226 (GRCm39) |
Y289C |
probably damaging |
Het |
| Or52d1 |
A |
G |
7: 103,755,657 (GRCm39) |
Y57C |
probably damaging |
Het |
| Otud6b |
A |
G |
4: 14,818,185 (GRCm39) |
Y239H |
probably damaging |
Het |
| Pank1 |
A |
G |
19: 34,818,366 (GRCm39) |
Y233H |
probably damaging |
Het |
| Plek |
A |
C |
11: 16,940,121 (GRCm39) |
L196R |
probably benign |
Het |
| Pou6f2 |
T |
C |
13: 18,299,931 (GRCm39) |
H576R |
|
Het |
| Rbm47 |
T |
A |
5: 66,184,354 (GRCm39) |
Y83F |
probably damaging |
Het |
| Rbm6 |
A |
T |
9: 107,665,049 (GRCm39) |
Y787N |
probably damaging |
Het |
| Slc8a2 |
C |
A |
7: 15,868,419 (GRCm39) |
A217E |
probably damaging |
Het |
| Suox |
G |
A |
10: 128,507,164 (GRCm39) |
A288V |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,640,873 (GRCm39) |
I501M |
probably damaging |
Het |
| Tjp2 |
C |
A |
19: 24,075,493 (GRCm39) |
G1042* |
probably null |
Het |
| Tmtc2 |
T |
C |
10: 105,249,268 (GRCm39) |
Y155C |
probably damaging |
Het |
| Usp7 |
T |
C |
16: 8,516,359 (GRCm39) |
N600S |
probably benign |
Het |
| Zer1 |
T |
C |
2: 29,991,132 (GRCm39) |
I699V |
probably damaging |
Het |
| Zfp142 |
A |
G |
1: 74,618,687 (GRCm39) |
F227S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAATCTTGTGGTCTCTCCTGC -3'
(R):5'- CTGGTGAAGCCCATGAACATC -3'
Sequencing Primer
(F):5'- TAGAGCGACCCATCAGAGACTAG -3'
(R):5'- GGTGAAGCCCATGAACATCTACATAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation