Incidental Mutation 'IGL03124:Pck2'
| ID |
410112 |
| 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 # |
IGL03124
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55777721-55787477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55782790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 373
(T373I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154736
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048781]
[ENSMUST00000226352]
[ENSMUST00000226519]
[ENSMUST00000228240]
|
| AlphaFold |
Q8BH04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048781
AA Change: T408I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038555
Gene: ENSMUSG00000040618
AA Change: T408I
| 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 damaging
Transcript: ENSMUST00000226352
AA Change: T381I
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226514
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226519
AA Change: T381I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000226650
AA Change: T371I
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228240
AA Change: T373I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
C |
A |
8: 122,268,449 (GRCm39) |
|
probably benign |
Het |
| 4931414P19Rik |
A |
G |
14: 54,832,596 (GRCm39) |
V193A |
probably benign |
Het |
| Acap3 |
T |
C |
4: 155,989,490 (GRCm39) |
S645P |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,655,401 (GRCm39) |
I3316V |
probably benign |
Het |
| Apc |
T |
G |
18: 34,433,038 (GRCm39) |
H424Q |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,202,537 (GRCm39) |
|
probably null |
Het |
| Car13 |
C |
T |
3: 14,722,000 (GRCm39) |
P182L |
possibly damaging |
Het |
| Ccdc87 |
T |
G |
19: 4,891,082 (GRCm39) |
S525A |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 94,002,012 (GRCm39) |
N39D |
probably benign |
Het |
| Cyp2j13 |
C |
A |
4: 95,950,159 (GRCm39) |
A281S |
possibly damaging |
Het |
| Cyp4f15 |
G |
A |
17: 32,904,786 (GRCm39) |
|
probably null |
Het |
| Fat4 |
C |
A |
3: 39,035,701 (GRCm39) |
R3118S |
possibly damaging |
Het |
| Glg1 |
C |
T |
8: 111,926,803 (GRCm39) |
V171M |
probably damaging |
Het |
| Hivep1 |
G |
T |
13: 42,312,380 (GRCm39) |
G1540V |
possibly damaging |
Het |
| Ighm |
T |
C |
12: 113,385,258 (GRCm39) |
D234G |
unknown |
Het |
| Igsf10 |
T |
C |
3: 59,227,086 (GRCm39) |
T2196A |
probably benign |
Het |
| Kctd19 |
T |
A |
8: 106,113,702 (GRCm39) |
Q657L |
possibly damaging |
Het |
| Klhl40 |
T |
A |
9: 121,609,751 (GRCm39) |
I512N |
probably damaging |
Het |
| Lima1 |
A |
T |
15: 99,694,615 (GRCm39) |
|
probably benign |
Het |
| Map2k4 |
A |
C |
11: 65,581,617 (GRCm39) |
I365S |
probably damaging |
Het |
| Mast4 |
T |
A |
13: 102,874,753 (GRCm39) |
K1346N |
probably damaging |
Het |
| Met |
T |
A |
6: 17,492,077 (GRCm39) |
F280I |
probably benign |
Het |
| Ncapg |
A |
G |
5: 45,828,551 (GRCm39) |
T101A |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,886,452 (GRCm39) |
F605L |
probably benign |
Het |
| Odr4 |
A |
G |
1: 150,262,176 (GRCm39) |
V88A |
probably benign |
Het |
| Or51k1 |
G |
T |
7: 103,661,001 (GRCm39) |
Q303K |
probably benign |
Het |
| Or5ae2 |
T |
A |
7: 84,505,931 (GRCm39) |
M118K |
probably damaging |
Het |
| Or7e177 |
T |
A |
9: 20,212,459 (GRCm39) |
M322K |
probably benign |
Het |
| Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
| Pecr |
A |
C |
1: 72,316,499 (GRCm39) |
S69A |
probably benign |
Het |
| Pgap6 |
G |
A |
17: 26,335,808 (GRCm39) |
R65Q |
probably damaging |
Het |
| Pitpnb |
A |
G |
5: 111,478,696 (GRCm39) |
E6G |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Plbd2 |
A |
T |
5: 120,631,142 (GRCm39) |
F212I |
possibly damaging |
Het |
| Rfk |
T |
A |
19: 17,375,959 (GRCm39) |
H84Q |
possibly damaging |
Het |
| Scp2 |
T |
A |
4: 107,921,103 (GRCm39) |
I36F |
probably damaging |
Het |
| Slc9a4 |
A |
G |
1: 40,619,895 (GRCm39) |
T74A |
probably damaging |
Het |
| Spmip6 |
T |
C |
4: 41,507,287 (GRCm39) |
N170D |
possibly damaging |
Het |
| St6galnac1 |
G |
A |
11: 116,666,125 (GRCm39) |
A35V |
probably benign |
Het |
| Tasor2 |
A |
T |
13: 3,624,704 (GRCm39) |
Y1749N |
probably benign |
Het |
| Trav17 |
T |
C |
14: 54,044,106 (GRCm39) |
V4A |
probably benign |
Het |
| Vmn1r57 |
A |
T |
7: 5,224,021 (GRCm39) |
H182L |
possibly damaging |
Het |
| Vwa8 |
A |
T |
14: 79,296,255 (GRCm39) |
|
probably benign |
Het |
| Zgpat |
A |
G |
2: 181,007,973 (GRCm39) |
Y170C |
probably benign |
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 |
|
|
IGL02435:Pck2
|
APN |
14 |
55,781,847 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation