Incidental Mutation 'IGL02095:Pck2'
ID |
279586 |
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 # |
IGL02095
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
55777721-55787477 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 55779967 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 72
(R72Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038555
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048781]
[ENSMUST00000226352]
[ENSMUST00000226519]
[ENSMUST00000228240]
|
AlphaFold |
Q8BH04 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048781
AA Change: R72Q
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000038555 Gene: ENSMUSG00000040618 AA Change: R72Q
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: R45Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226514
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226519
AA Change: R45Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000226650
AA Change: R35Q
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228240
AA Change: R37Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000228921
AA Change: R35Q
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228283
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226770
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226714
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226664
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228843
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,383,583 (GRCm39) |
Q794L |
probably benign |
Het |
Acrbp |
C |
A |
6: 125,030,919 (GRCm39) |
Y313* |
probably null |
Het |
Adam9 |
A |
G |
8: 25,486,745 (GRCm39) |
S178P |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,727,909 (GRCm39) |
I244V |
possibly damaging |
Het |
Atad5 |
A |
G |
11: 79,985,533 (GRCm39) |
S207G |
probably benign |
Het |
Atp10a |
A |
G |
7: 58,457,141 (GRCm39) |
D880G |
probably damaging |
Het |
Cadps2 |
A |
G |
6: 23,427,309 (GRCm39) |
I573T |
probably benign |
Het |
Camsap3 |
A |
G |
8: 3,653,845 (GRCm39) |
D494G |
probably damaging |
Het |
Cbfa2t3 |
T |
C |
8: 123,360,232 (GRCm39) |
E438G |
probably damaging |
Het |
Cisd2 |
T |
C |
3: 135,116,980 (GRCm39) |
D37G |
possibly damaging |
Het |
Cndp2 |
T |
C |
18: 84,699,157 (GRCm39) |
E36G |
possibly damaging |
Het |
Ddx54 |
G |
A |
5: 120,761,856 (GRCm39) |
G544D |
possibly damaging |
Het |
Dok2 |
G |
T |
14: 71,015,301 (GRCm39) |
G343W |
possibly damaging |
Het |
Dscaml1 |
A |
G |
9: 45,359,001 (GRCm39) |
N87D |
probably damaging |
Het |
Ehf |
T |
C |
2: 103,097,336 (GRCm39) |
Y237C |
probably damaging |
Het |
Exoc3 |
T |
C |
13: 74,328,655 (GRCm39) |
T569A |
probably damaging |
Het |
Fam151a |
T |
C |
4: 106,605,072 (GRCm39) |
V478A |
probably damaging |
Het |
Fam227b |
T |
A |
2: 125,942,924 (GRCm39) |
H291L |
probably damaging |
Het |
Fmn2 |
A |
G |
1: 174,330,167 (GRCm39) |
T186A |
unknown |
Het |
Ggnbp2 |
T |
C |
11: 84,723,954 (GRCm39) |
Y660C |
probably damaging |
Het |
Ggt5 |
G |
A |
10: 75,444,637 (GRCm39) |
M318I |
probably benign |
Het |
Gprc5d |
A |
G |
6: 135,093,175 (GRCm39) |
I244T |
probably damaging |
Het |
Gucy2e |
A |
G |
11: 69,123,613 (GRCm39) |
S429P |
possibly damaging |
Het |
Igf2r |
T |
C |
17: 12,920,892 (GRCm39) |
D1341G |
probably damaging |
Het |
Kcnq4 |
T |
C |
4: 120,557,224 (GRCm39) |
|
probably benign |
Het |
Krt40 |
T |
C |
11: 99,432,497 (GRCm39) |
D173G |
probably damaging |
Het |
Lrrc27 |
C |
T |
7: 138,810,169 (GRCm39) |
T380I |
probably benign |
Het |
Lrrc4c |
A |
G |
2: 97,459,749 (GRCm39) |
N125S |
probably benign |
Het |
Mtor |
C |
T |
4: 148,628,998 (GRCm39) |
R2217C |
probably damaging |
Het |
Nfrkb |
C |
T |
9: 31,322,527 (GRCm39) |
R866W |
probably damaging |
Het |
Or10s1 |
T |
A |
9: 39,985,967 (GRCm39) |
Y125* |
probably null |
Het |
Or4d10b |
C |
A |
19: 12,036,913 (GRCm39) |
V68F |
probably benign |
Het |
P2ry6 |
T |
A |
7: 100,588,071 (GRCm39) |
D96V |
probably damaging |
Het |
Pcdh18 |
A |
T |
3: 49,710,605 (GRCm39) |
S237T |
probably benign |
Het |
Pik3c2a |
C |
T |
7: 115,945,423 (GRCm39) |
R1461Q |
probably damaging |
Het |
Polr3a |
A |
G |
14: 24,504,678 (GRCm39) |
V1130A |
possibly damaging |
Het |
Ppm1d |
T |
A |
11: 85,217,832 (GRCm39) |
D198E |
probably benign |
Het |
Rasa1 |
T |
A |
13: 85,364,274 (GRCm39) |
E1022D |
probably benign |
Het |
Rbm25 |
T |
C |
12: 83,718,748 (GRCm39) |
Y507H |
probably damaging |
Het |
Rbm26 |
A |
T |
14: 105,381,696 (GRCm39) |
I488K |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,774,645 (GRCm39) |
E1170D |
probably damaging |
Het |
Sdk2 |
T |
G |
11: 113,725,656 (GRCm39) |
T1198P |
probably damaging |
Het |
Sema3g |
C |
T |
14: 30,949,781 (GRCm39) |
T654I |
probably benign |
Het |
Spag9 |
A |
T |
11: 93,999,408 (GRCm39) |
H1108L |
probably damaging |
Het |
Trgc2 |
T |
A |
13: 19,491,580 (GRCm39) |
|
probably benign |
Het |
Ubap2 |
T |
C |
4: 41,229,709 (GRCm39) |
N142S |
probably benign |
Het |
Usp33 |
T |
C |
3: 152,087,431 (GRCm39) |
F699L |
possibly damaging |
Het |
Ythdc2 |
A |
G |
18: 45,006,207 (GRCm39) |
|
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 |
|
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 |
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 |