Incidental Mutation 'R1116:Pck2'
| ID |
97339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pck2
|
| Ensembl Gene |
ENSMUSG00000040618 |
| Gene Name |
phosphoenolpyruvate carboxykinase 2 (mitochondrial) |
| Synonyms |
1810010O14Rik, 9130022B02Rik |
| MMRRC Submission |
039189-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R1116 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55777721-55787477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55782823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 392
(D392G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048781]
[ENSMUST00000226352]
[ENSMUST00000226519]
[ENSMUST00000228240]
|
| AlphaFold |
Q8BH04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048781
AA Change: D419G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000038555
Gene: ENSMUSG00000040618
AA Change: D419G
| 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
AA Change: D392G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226514
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226519
AA Change: D392G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228240
AA Change: D384G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000226650
AA Change: D382G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228283
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226770
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228921
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226664
|
| Meta Mutation Damage Score |
0.1288 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.8%
|
| Validation Efficiency |
100% (49/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
C |
16: 56,506,792 (GRCm39) |
|
probably benign |
Het |
| Acacb |
C |
T |
5: 114,349,017 (GRCm39) |
P1028S |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,768,814 (GRCm39) |
F717S |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,314,172 (GRCm39) |
Y705N |
probably benign |
Het |
| Adm |
A |
G |
7: 110,227,501 (GRCm39) |
I6V |
probably benign |
Het |
| Agps |
T |
G |
2: 75,692,269 (GRCm39) |
|
probably benign |
Het |
| Atr |
C |
T |
9: 95,749,689 (GRCm39) |
Q501* |
probably null |
Het |
| Cacna2d3 |
A |
G |
14: 28,786,278 (GRCm39) |
|
probably benign |
Het |
| Ccnt1 |
G |
A |
15: 98,442,219 (GRCm39) |
R350W |
probably damaging |
Het |
| Cfap74 |
G |
A |
4: 155,518,453 (GRCm39) |
E564K |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,717,554 (GRCm39) |
E1250G |
probably damaging |
Het |
| Cryz |
A |
C |
3: 154,327,240 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
C |
A |
14: 31,029,824 (GRCm39) |
V494F |
probably benign |
Het |
| Dpep3 |
G |
T |
8: 106,705,461 (GRCm39) |
D96E |
probably damaging |
Het |
| Dyrk3 |
G |
A |
1: 131,056,919 (GRCm39) |
A418V |
probably damaging |
Het |
| Ehf |
T |
A |
2: 103,097,354 (GRCm39) |
N231I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,819,086 (GRCm39) |
|
probably null |
Het |
| Ergic3 |
G |
A |
2: 155,858,707 (GRCm39) |
V278M |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam178b |
A |
T |
1: 36,617,669 (GRCm39) |
C82* |
probably null |
Het |
| Gm1647 |
C |
T |
3: 69,064,205 (GRCm39) |
Q31* |
probably null |
Het |
| Got1 |
T |
A |
19: 43,491,413 (GRCm39) |
K346* |
probably null |
Het |
| Grid2ip |
G |
A |
5: 143,368,669 (GRCm39) |
G656D |
possibly damaging |
Het |
| Grm2 |
A |
G |
9: 106,525,126 (GRCm39) |
Y530H |
probably damaging |
Het |
| Hyou1 |
T |
C |
9: 44,295,978 (GRCm39) |
I381T |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Marchf11 |
T |
C |
15: 26,409,381 (GRCm39) |
L360P |
probably damaging |
Het |
| Mettl17 |
T |
C |
14: 52,127,055 (GRCm39) |
V281A |
probably benign |
Het |
| Micu2 |
A |
T |
14: 58,191,657 (GRCm39) |
D131E |
probably benign |
Het |
| Mug1 |
G |
C |
6: 121,847,604 (GRCm39) |
V661L |
probably benign |
Het |
| Myo18b |
A |
T |
5: 112,951,145 (GRCm39) |
D1488E |
probably damaging |
Het |
| Nkg7 |
G |
A |
7: 43,086,878 (GRCm39) |
V51I |
probably benign |
Het |
| Nlgn1 |
A |
C |
3: 25,488,038 (GRCm39) |
S766A |
probably benign |
Het |
| Or4d2b |
T |
A |
11: 87,780,234 (GRCm39) |
M163L |
probably benign |
Het |
| Otog |
T |
C |
7: 45,950,025 (GRCm39) |
|
probably benign |
Het |
| Pax2 |
T |
C |
19: 44,745,863 (GRCm39) |
S11P |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,943,966 (GRCm39) |
|
probably null |
Het |
| Prkdc |
A |
G |
16: 15,600,943 (GRCm39) |
D2868G |
probably benign |
Het |
| Prl3d2 |
T |
C |
13: 27,309,985 (GRCm39) |
L149P |
probably damaging |
Het |
| Purg |
A |
T |
8: 33,876,773 (GRCm39) |
H137L |
probably benign |
Het |
| Slc38a8 |
A |
T |
8: 120,222,872 (GRCm39) |
L150Q |
probably damaging |
Het |
| Tifab |
T |
A |
13: 56,324,025 (GRCm39) |
R139S |
possibly damaging |
Het |
| Txndc16 |
T |
C |
14: 45,400,442 (GRCm39) |
H353R |
probably benign |
Het |
| Ulbp3 |
A |
T |
10: 3,070,180 (GRCm39) |
|
noncoding transcript |
Het |
| Upk2 |
A |
G |
9: 44,365,086 (GRCm39) |
|
probably null |
Het |
| Zdhhc25 |
G |
A |
15: 88,484,823 (GRCm39) |
V53I |
probably benign |
Het |
| Zfp738 |
T |
A |
13: 67,818,362 (GRCm39) |
|
probably null |
Het |
| Zfp810 |
C |
T |
9: 22,190,381 (GRCm39) |
E176K |
probably benign |
Het |
| Zfp846 |
T |
A |
9: 20,504,559 (GRCm39) |
W140R |
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 |
|
|
IGL02435:Pck2
|
APN |
14 |
55,781,847 (GRCm39) |
splice site |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATCAACCCTGAGAATGGCTTC -3'
(R):5'- CAAATGTTACTGGCCCAATTCCTGC -3'
Sequencing Primer
(F):5'- ACCCTGAGAATGGCTTCTTTGG -3'
(R):5'- gctcacaaccgtctgtaattc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation