Incidental Mutation 'R7795:Pccb'
| ID |
600178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pccb
|
| Ensembl Gene |
ENSMUSG00000032527 |
| Gene Name |
propionyl Coenzyme A carboxylase, beta polypeptide |
| Synonyms |
1300012P06Rik |
| MMRRC Submission |
045851-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7795 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
100864085-100916951 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100881316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 224
(Y224C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035116]
[ENSMUST00000142676]
[ENSMUST00000149322]
|
| AlphaFold |
Q99MN9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035116
AA Change: Y224C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035116
Gene: ENSMUSG00000032527
AA Change: Y224C
| 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: ENSMUST00000142676
AA Change: Y184C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123421
Gene: ENSMUSG00000032527
AA Change: Y184C
| 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 damaging
Transcript: ENSMUST00000149322
AA Change: Y187C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118006
Gene: ENSMUSG00000032527
AA Change: Y187C
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankle1 |
T |
C |
8: 71,861,337 (GRCm39) |
S391P |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,811,570 (GRCm39) |
Q606R |
probably benign |
Het |
| Bmf |
A |
G |
2: 118,377,358 (GRCm39) |
L130P |
probably damaging |
Het |
| Ccdc88c |
G |
A |
12: 100,889,570 (GRCm39) |
T1491I |
probably benign |
Het |
| Cyp2c69 |
G |
A |
19: 39,864,663 (GRCm39) |
R272C |
probably benign |
Het |
| Defa27 |
A |
G |
8: 21,806,354 (GRCm39) |
N78S |
probably benign |
Het |
| Depdc5 |
T |
A |
5: 33,101,447 (GRCm39) |
D912E |
probably damaging |
Het |
| Dsc3 |
C |
T |
18: 20,099,288 (GRCm39) |
D743N |
probably damaging |
Het |
| Epcam |
T |
C |
17: 87,950,983 (GRCm39) |
V190A |
probably benign |
Het |
| Exoc2 |
G |
A |
13: 31,060,756 (GRCm39) |
R583* |
probably null |
Het |
| Extl1 |
T |
A |
4: 134,091,990 (GRCm39) |
I288F |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fcer2a |
T |
A |
8: 3,732,910 (GRCm39) |
Y299F |
probably benign |
Het |
| Frmd4a |
G |
A |
2: 4,595,506 (GRCm39) |
G439R |
probably damaging |
Het |
| Gal3st4 |
T |
C |
5: 138,269,100 (GRCm39) |
H120R |
probably benign |
Het |
| Grid1 |
C |
A |
14: 35,043,642 (GRCm39) |
N332K |
probably damaging |
Het |
| Igkv4-68 |
A |
G |
6: 69,281,896 (GRCm39) |
Y92H |
probably damaging |
Het |
| Itga1 |
T |
C |
13: 115,148,772 (GRCm39) |
E283G |
probably damaging |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lrrc24 |
A |
G |
15: 76,602,248 (GRCm39) |
L169P |
probably benign |
Het |
| Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
| Mettl8 |
T |
C |
2: 70,812,243 (GRCm39) |
T131A |
probably benign |
Het |
| Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
| Nbr1 |
T |
A |
11: 101,460,154 (GRCm39) |
D383E |
probably damaging |
Het |
| Neto1 |
A |
T |
18: 86,479,198 (GRCm39) |
K167N |
probably benign |
Het |
| Nkx6-1 |
A |
T |
5: 101,811,628 (GRCm39) |
L158Q |
unknown |
Het |
| Nlrp5 |
G |
A |
7: 23,118,219 (GRCm39) |
V648M |
possibly damaging |
Het |
| Nvl |
G |
T |
1: 180,924,722 (GRCm39) |
Q811K |
probably benign |
Het |
| Or13a21 |
A |
G |
7: 139,999,027 (GRCm39) |
F220L |
possibly damaging |
Het |
| Or13p3 |
C |
A |
4: 118,566,855 (GRCm39) |
H84N |
possibly damaging |
Het |
| Or1j10 |
A |
G |
2: 36,267,453 (GRCm39) |
T222A |
probably benign |
Het |
| Or3a1c |
T |
A |
11: 74,046,844 (GRCm39) |
L288Q |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,334,657 (GRCm39) |
Y324H |
probably benign |
Het |
| Pecam1 |
C |
A |
11: 106,586,658 (GRCm39) |
E286* |
probably null |
Het |
| Prl7d1 |
A |
T |
13: 27,893,263 (GRCm39) |
L215Q |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,319,729 (GRCm39) |
Y2514* |
probably null |
Het |
| Rgs11 |
A |
G |
17: 26,426,552 (GRCm39) |
H261R |
possibly damaging |
Het |
| Samd15 |
A |
G |
12: 87,247,506 (GRCm39) |
T64A |
probably benign |
Het |
| Shc4 |
T |
A |
2: 125,565,285 (GRCm39) |
S5C |
probably damaging |
Het |
| Shroom3 |
G |
A |
5: 93,067,508 (GRCm39) |
V109M |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,929,291 (GRCm39) |
I283T |
possibly damaging |
Het |
| Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
| Synj2bp |
G |
A |
12: 81,548,922 (GRCm39) |
P106S |
probably benign |
Het |
| Tasor |
T |
C |
14: 27,203,340 (GRCm39) |
S289P |
|
Het |
| Thoc1 |
T |
C |
18: 9,986,300 (GRCm39) |
V344A |
probably damaging |
Het |
| Vmn1r71 |
A |
G |
7: 10,482,136 (GRCm39) |
L184S |
probably damaging |
Het |
| Vps45 |
A |
G |
3: 95,926,936 (GRCm39) |
I537T |
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 |
|
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 |
|
|
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'- GCTGTCAGAGAAGTGGTAGTTT -3'
(R):5'- GCTCTTCTGAGAACAGCGTG -3'
Sequencing Primer
(F):5'- CTGAAGGTCCGGAGTTTAAATCCC -3'
(R):5'- AAACAGTGCTACTCTCTGGTGAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation