Incidental Mutation 'IGL02435:Pck2'
| ID |
293266 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pck2
|
| Ensembl Gene |
ENSMUSG00000040618 |
| Gene Name |
phosphoenolpyruvate carboxykinase 2 (mitochondrial) |
| Synonyms |
1810010O14Rik, 9130022B02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
IGL02435
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55777721-55787477 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 55781847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048781]
[ENSMUST00000226352]
[ENSMUST00000226519]
[ENSMUST00000228240]
|
| AlphaFold |
Q8BH04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048781
|
| SMART Domains |
Protein: ENSMUSP00000038555
Gene: ENSMUSG00000040618
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
Pfam:PEPCK
|
73 |
664 |
1.9e-276 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226231
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226270
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226295
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226352
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226514
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226519
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226650
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226664
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228283
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228921
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226770
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228240
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
A |
G |
13: 19,323,333 (GRCm39) |
|
probably benign |
Het |
| Ankrd12 |
G |
T |
17: 66,294,151 (GRCm39) |
S427R |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,416,482 (GRCm39) |
T420A |
probably benign |
Het |
| Braf |
C |
T |
6: 39,623,700 (GRCm39) |
S414N |
probably benign |
Het |
| C1rl |
T |
C |
6: 124,485,832 (GRCm39) |
L401P |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,830,325 (GRCm39) |
|
probably benign |
Het |
| Elmo1 |
A |
T |
13: 20,773,826 (GRCm39) |
D612V |
probably damaging |
Het |
| Fbxo15 |
T |
C |
18: 84,977,351 (GRCm39) |
S88P |
probably damaging |
Het |
| Glrx3 |
A |
G |
7: 137,063,125 (GRCm39) |
N132S |
possibly damaging |
Het |
| Hamp |
G |
T |
7: 30,643,324 (GRCm39) |
Q29K |
probably benign |
Het |
| Igfbp2 |
G |
A |
1: 72,891,245 (GRCm39) |
R281Q |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,637,711 (GRCm39) |
A483T |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,253,671 (GRCm39) |
Q231* |
probably null |
Het |
| Nif3l1 |
A |
G |
1: 58,487,020 (GRCm39) |
T69A |
possibly damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,696,039 (GRCm39) |
F157S |
probably benign |
Het |
| Or2ag1b |
A |
G |
7: 106,288,710 (GRCm39) |
V76A |
probably benign |
Het |
| Or4a72 |
A |
G |
2: 89,405,890 (GRCm39) |
F60S |
probably damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,391 (GRCm39) |
I251N |
probably damaging |
Het |
| Pdgfrb |
T |
C |
18: 61,197,998 (GRCm39) |
|
probably null |
Het |
| Ric8b |
A |
G |
10: 84,815,940 (GRCm39) |
N194S |
probably benign |
Het |
| Rlbp1 |
A |
G |
7: 79,031,414 (GRCm39) |
F105L |
probably damaging |
Het |
| Sde2 |
G |
T |
1: 180,693,717 (GRCm39) |
K402N |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,250,860 (GRCm39) |
H461R |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,889,760 (GRCm39) |
I210F |
possibly damaging |
Het |
| Szt2 |
G |
A |
4: 118,248,020 (GRCm39) |
R735W |
probably damaging |
Het |
| Tspan6 |
T |
C |
X: 132,793,493 (GRCm39) |
Y186C |
probably benign |
Het |
| Ugt8a |
A |
G |
3: 125,660,969 (GRCm39) |
S508P |
probably benign |
Het |
| Zfp217 |
T |
C |
2: 169,961,373 (GRCm39) |
D318G |
possibly damaging |
Het |
|
| Other mutations in Pck2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Pck2
|
APN |
14 |
55,780,098 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL00430:Pck2
|
APN |
14 |
55,781,401 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL00814:Pck2
|
APN |
14 |
55,785,756 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01012:Pck2
|
APN |
14 |
55,781,526 (GRCm39) |
splice site |
probably benign |
|
|
IGL02095:Pck2
|
APN |
14 |
55,779,967 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02227:Pck2
|
APN |
14 |
55,781,323 (GRCm39) |
missense |
probably benign |
|
|
IGL03124:Pck2
|
APN |
14 |
55,782,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0271:Pck2
|
UTSW |
14 |
55,782,041 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1014:Pck2
|
UTSW |
14 |
55,779,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1116:Pck2
|
UTSW |
14 |
55,782,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1640:Pck2
|
UTSW |
14 |
55,786,041 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1793:Pck2
|
UTSW |
14 |
55,781,422 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1965:Pck2
|
UTSW |
14 |
55,779,964 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1983:Pck2
|
UTSW |
14 |
55,781,525 (GRCm39) |
splice site |
probably null |
|
|
R3196:Pck2
|
UTSW |
14 |
55,781,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Pck2
|
UTSW |
14 |
55,780,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Pck2
|
UTSW |
14 |
55,782,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5960:Pck2
|
UTSW |
14 |
55,786,004 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6134:Pck2
|
UTSW |
14 |
55,781,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6276:Pck2
|
UTSW |
14 |
55,780,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:Pck2
|
UTSW |
14 |
55,785,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Pck2
|
UTSW |
14 |
55,786,169 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7516:Pck2
|
UTSW |
14 |
55,779,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8066:Pck2
|
UTSW |
14 |
55,781,858 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9210:Pck2
|
UTSW |
14 |
55,779,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9257:Pck2
|
UTSW |
14 |
55,782,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Pck2
|
UTSW |
14 |
55,785,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9499:Pck2
|
UTSW |
14 |
55,780,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9552:Pck2
|
UTSW |
14 |
55,780,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Pck2
|
UTSW |
14 |
55,785,520 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Pck2
|
UTSW |
14 |
55,782,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation