Incidental Mutation 'R8769:Pcca'
| ID |
664308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcca
|
| Ensembl Gene |
ENSMUSG00000041650 |
| Gene Name |
propionyl-Coenzyme A carboxylase, alpha polypeptide |
| Synonyms |
C79630 |
| MMRRC Submission |
068624-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8769 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
122771736-123128512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122854260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 184
(K184R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038763
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038374]
[ENSMUST00000135578]
[ENSMUST00000154206]
|
| AlphaFold |
Q91ZA3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038374
AA Change: K184R
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000038763
Gene: ENSMUSG00000041650
AA Change: K184R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CPSase_L_chain
|
58 |
167 |
2.1e-48 |
PFAM |
|
Pfam:ATP-grasp_4
|
169 |
351 |
3.8e-15 |
PFAM |
|
Pfam:RimK
|
170 |
372 |
5.6e-7 |
PFAM |
|
Pfam:CPSase_L_D2
|
172 |
381 |
2.8e-87 |
PFAM |
|
Pfam:ATP-grasp
|
181 |
351 |
9.8e-10 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
192 |
349 |
7.7e-12 |
PFAM |
|
Biotin_carb_C
|
393 |
501 |
4.27e-46 |
SMART |
|
Pfam:Biotin_lipoyl
|
656 |
723 |
1e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135578
AA Change: K128R
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000123422
Gene: ENSMUSG00000041650
AA Change: K128R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CPSase_L_chain
|
58 |
102 |
6.1e-15 |
PFAM |
|
Pfam:CPSase_L_D2
|
116 |
163 |
9.9e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154206
|
| SMART Domains |
Protein: ENSMUSP00000120027
Gene: ENSMUSG00000041650
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CPSase_L_chain
|
43 |
128 |
5.7e-27 |
PFAM |
|
| Predicted Effect |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
97% (57/59) |
| 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 the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mice die 24-36 hours after birth due to accelerated ketoacidosis. Death is preceded by reduced milk intake, poor movement, dehydration, accumulation of propionyl-CoA, ketonuria, increased fat deposition and glycogen consumption in liver, and enlarged kidney collecting ducts. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
T |
A |
2: 68,446,589 (GRCm39) |
N289K |
unknown |
Het |
| Adgrl2 |
T |
C |
3: 148,522,917 (GRCm39) |
I436V |
|
Het |
| Agbl3 |
C |
T |
6: 34,834,549 (GRCm39) |
S911L |
probably damaging |
Het |
| Ampd2 |
C |
T |
3: 107,982,613 (GRCm39) |
M714I |
probably damaging |
Het |
| Asb6 |
T |
C |
2: 30,718,143 (GRCm39) |
D19G |
possibly damaging |
Het |
| Atosa |
C |
A |
9: 74,933,107 (GRCm39) |
L1025I |
probably damaging |
Het |
| Bbx |
T |
C |
16: 50,061,227 (GRCm39) |
Q298R |
probably damaging |
Het |
| Bcl9l |
T |
A |
9: 44,420,263 (GRCm39) |
M1223K |
probably benign |
Het |
| Ccr3 |
T |
A |
9: 123,829,096 (GRCm39) |
F144I |
possibly damaging |
Het |
| Cfap74 |
T |
A |
4: 155,503,105 (GRCm39) |
F32L |
|
Het |
| Clhc1 |
G |
A |
11: 29,511,401 (GRCm39) |
E293K |
probably damaging |
Het |
| Col22a1 |
A |
T |
15: 71,878,571 (GRCm39) |
D195E |
probably benign |
Het |
| Cttnbp2 |
T |
A |
6: 18,376,003 (GRCm39) |
D1512V |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,832,828 (GRCm39) |
T1372A |
possibly damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,857,208 (GRCm39) |
D490E |
possibly damaging |
Het |
| E4f1 |
C |
T |
17: 24,663,574 (GRCm39) |
V626M |
probably damaging |
Het |
| Edc3 |
C |
T |
9: 57,634,678 (GRCm39) |
R232C |
probably damaging |
Het |
| Eppk1 |
A |
G |
15: 75,994,895 (GRCm39) |
I662T |
probably benign |
Het |
| G3bp2 |
C |
T |
5: 92,231,356 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
T |
C |
4: 125,550,166 (GRCm39) |
L397P |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,419,936 (GRCm39) |
N627S |
possibly damaging |
Het |
| Hecw2 |
C |
T |
1: 53,952,507 (GRCm39) |
V909I |
probably benign |
Het |
| Hsd17b12 |
A |
T |
2: 93,945,397 (GRCm39) |
M75K |
probably damaging |
Het |
| Htt |
C |
T |
5: 34,977,633 (GRCm39) |
T809I |
probably benign |
Het |
| Itih1 |
A |
G |
14: 30,655,381 (GRCm39) |
S609P |
probably damaging |
Het |
| Klk1b9 |
T |
A |
7: 43,629,666 (GRCm39) |
C234S |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,389,536 (GRCm39) |
L1963P |
probably benign |
Het |
| Lypd3 |
C |
A |
7: 24,337,932 (GRCm39) |
H99Q |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,751,390 (GRCm39) |
H4593Q |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,297,126 (GRCm39) |
S325G |
probably benign |
Het |
| Muc5ac |
G |
A |
7: 141,372,609 (GRCm39) |
G3452R |
probably damaging |
Het |
| Myrfl |
A |
T |
10: 116,612,696 (GRCm39) |
D884E |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,274,370 (GRCm39) |
H260Q |
probably damaging |
Het |
| Ngef |
A |
G |
1: 87,408,883 (GRCm39) |
L519P |
probably damaging |
Het |
| Or5ac20 |
A |
G |
16: 59,104,194 (GRCm39) |
L222P |
probably damaging |
Het |
| Or5b102 |
T |
A |
19: 13,041,307 (GRCm39) |
C177* |
probably null |
Het |
| Or5w1b |
A |
T |
2: 87,475,960 (GRCm39) |
F169Y |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Ppp6r1 |
A |
T |
7: 4,644,289 (GRCm39) |
V379E |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,842,286 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,100,442 (GRCm39) |
E1982G |
probably damaging |
Het |
| Rad21l |
T |
C |
2: 151,509,838 (GRCm39) |
T88A |
probably benign |
Het |
| Rpgrip1l |
T |
C |
8: 91,979,212 (GRCm39) |
|
probably benign |
Het |
| Sec62 |
T |
C |
3: 30,864,177 (GRCm39) |
|
probably null |
Het |
| Slc22a19 |
C |
T |
19: 7,670,086 (GRCm39) |
R256Q |
possibly damaging |
Het |
| Slc43a2 |
G |
T |
11: 75,434,192 (GRCm39) |
|
probably null |
Het |
| Smarcd3 |
T |
C |
5: 24,803,792 (GRCm39) |
M30V |
probably benign |
Het |
| Tes3-ps |
T |
A |
13: 49,647,356 (GRCm39) |
D77E |
probably benign |
Het |
| Thbs3 |
G |
A |
3: 89,131,937 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
A |
T |
10: 77,768,128 (GRCm39) |
N790K |
probably benign |
Het |
| Ttc13 |
A |
T |
8: 125,405,816 (GRCm39) |
N492K |
possibly damaging |
Het |
| Ttc39c |
T |
C |
18: 12,828,545 (GRCm39) |
L235P |
probably damaging |
Het |
| Tyms |
T |
C |
5: 30,278,360 (GRCm39) |
|
probably benign |
Het |
| Whamm |
A |
T |
7: 81,234,933 (GRCm39) |
K333* |
probably null |
Het |
| Ydjc |
A |
G |
16: 16,968,732 (GRCm39) |
I224V |
probably benign |
Het |
| Zc3hav1 |
C |
T |
6: 38,313,416 (GRCm39) |
D210N |
possibly damaging |
Het |
| Zfp735 |
G |
A |
11: 73,581,127 (GRCm39) |
E55K |
possibly damaging |
Het |
|
| Other mutations in Pcca |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Pcca
|
APN |
14 |
122,820,041 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL00906:Pcca
|
APN |
14 |
122,927,545 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL00975:Pcca
|
APN |
14 |
123,114,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01329:Pcca
|
APN |
14 |
122,927,545 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01353:Pcca
|
APN |
14 |
122,820,029 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01672:Pcca
|
APN |
14 |
122,927,557 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02621:Pcca
|
APN |
14 |
122,922,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02695:Pcca
|
APN |
14 |
122,820,150 (GRCm39) |
splice site |
probably benign |
|
|
IGL02749:Pcca
|
APN |
14 |
122,771,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02971:Pcca
|
APN |
14 |
123,126,945 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03290:Pcca
|
APN |
14 |
122,822,518 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03052:Pcca
|
UTSW |
14 |
123,124,513 (GRCm39) |
missense |
probably benign |
|
|
PIT4812001:Pcca
|
UTSW |
14 |
123,027,794 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0549:Pcca
|
UTSW |
14 |
122,875,789 (GRCm39) |
splice site |
probably benign |
|
|
R0866:Pcca
|
UTSW |
14 |
123,126,957 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1498:Pcca
|
UTSW |
14 |
122,854,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1749:Pcca
|
UTSW |
14 |
122,938,542 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2002:Pcca
|
UTSW |
14 |
123,124,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2020:Pcca
|
UTSW |
14 |
123,050,634 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2086:Pcca
|
UTSW |
14 |
122,923,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3780:Pcca
|
UTSW |
14 |
122,922,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Pcca
|
UTSW |
14 |
123,027,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5643:Pcca
|
UTSW |
14 |
123,124,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5644:Pcca
|
UTSW |
14 |
123,124,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5943:Pcca
|
UTSW |
14 |
122,896,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5966:Pcca
|
UTSW |
14 |
122,905,998 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6295:Pcca
|
UTSW |
14 |
122,896,187 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6317:Pcca
|
UTSW |
14 |
122,820,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6319:Pcca
|
UTSW |
14 |
122,820,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6361:Pcca
|
UTSW |
14 |
122,875,794 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6989:Pcca
|
UTSW |
14 |
122,887,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7243:Pcca
|
UTSW |
14 |
123,114,186 (GRCm39) |
missense |
probably benign |
|
|
R7841:Pcca
|
UTSW |
14 |
122,800,384 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8026:Pcca
|
UTSW |
14 |
122,875,794 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8463:Pcca
|
UTSW |
14 |
122,922,526 (GRCm39) |
splice site |
probably null |
|
|
R8889:Pcca
|
UTSW |
14 |
122,795,123 (GRCm39) |
splice site |
probably benign |
|
|
R8956:Pcca
|
UTSW |
14 |
122,975,324 (GRCm39) |
missense |
probably benign |
|
|
R9287:Pcca
|
UTSW |
14 |
122,854,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9336:Pcca
|
UTSW |
14 |
122,887,738 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9447:Pcca
|
UTSW |
14 |
122,854,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9606:Pcca
|
UTSW |
14 |
122,901,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF024:Pcca
|
UTSW |
14 |
122,922,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Pcca
|
UTSW |
14 |
122,854,203 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCACATCCTTATTTTAGCATTGG -3'
(R):5'- TCACCATCCCCATAGTTTACAG -3'
Sequencing Primer
(F):5'- TTCTTCTCAGGCAGCAGA -3'
(R):5'- TAGTTTACAGCACTAACAACAACTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation