Incidental Mutation 'R3508:Pck1'
| ID |
267450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pck1
|
| Ensembl Gene |
ENSMUSG00000027513 |
| Gene Name |
phosphoenolpyruvate carboxykinase 1, cytosolic |
| Synonyms |
Pck-1, PEPCK |
| MMRRC Submission |
040664-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3508 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
172994866-173001067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 173000177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 536
(V536A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029017]
|
| AlphaFold |
Q9Z2V4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029017
AA Change: V536A
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029017
Gene: ENSMUSG00000027513
AA Change: V536A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PEPCK
|
29 |
619 |
3.2e-275 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136885
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150629
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151269
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit early postnatal lethality, decreased body fat, decreased glycogen levels in the liver, and altered blood chemistry. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,953,991 (GRCm39) |
F816L |
probably benign |
Het |
| Adgrl3 |
C |
A |
5: 81,872,103 (GRCm39) |
N932K |
probably damaging |
Het |
| Apol8 |
T |
C |
15: 77,633,643 (GRCm39) |
E311G |
probably damaging |
Het |
| Atad2b |
G |
A |
12: 5,000,595 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
A |
G |
13: 24,203,659 (GRCm39) |
|
probably benign |
Het |
| Cdc20b |
T |
C |
13: 113,217,576 (GRCm39) |
S332P |
possibly damaging |
Het |
| Cep162 |
A |
G |
9: 87,114,030 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
A |
10: 92,721,286 (GRCm39) |
S2482C |
unknown |
Het |
| Cnpy1 |
T |
C |
5: 28,412,365 (GRCm39) |
E107G |
probably damaging |
Het |
| Crtac1 |
C |
T |
19: 42,293,180 (GRCm39) |
V310I |
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Elmo1 |
T |
C |
13: 20,789,402 (GRCm39) |
I706T |
probably damaging |
Het |
| F12 |
T |
C |
13: 55,568,872 (GRCm39) |
T297A |
probably benign |
Het |
| Fanci |
A |
G |
7: 79,083,220 (GRCm39) |
I736V |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,148,247 (GRCm39) |
N2667S |
probably benign |
Het |
| Flt4 |
T |
C |
11: 49,524,941 (GRCm39) |
S596P |
probably damaging |
Het |
| Fndc1 |
G |
A |
17: 7,983,940 (GRCm39) |
R1329* |
probably null |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| H2-M10.1 |
T |
G |
17: 36,636,506 (GRCm39) |
R99S |
possibly damaging |
Het |
| Homer3 |
T |
A |
8: 70,744,005 (GRCm39) |
V243D |
probably benign |
Het |
| Hspa14 |
A |
G |
2: 3,492,045 (GRCm39) |
S437P |
probably damaging |
Het |
| Inpp1 |
A |
T |
1: 52,838,550 (GRCm39) |
I33N |
probably damaging |
Het |
| Ipo5 |
T |
A |
14: 121,176,956 (GRCm39) |
Y714N |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,461,026 (GRCm39) |
E898G |
possibly damaging |
Het |
| Klhdc7b |
T |
A |
15: 89,271,095 (GRCm39) |
M1K |
probably null |
Het |
| Krt87 |
A |
G |
15: 101,386,039 (GRCm39) |
Y241H |
probably benign |
Het |
| Mfsd4b1 |
A |
G |
10: 39,878,715 (GRCm39) |
I394T |
probably benign |
Het |
| Micall1 |
A |
G |
15: 79,006,965 (GRCm39) |
D264G |
probably damaging |
Het |
| Mms22l |
T |
G |
4: 24,586,224 (GRCm39) |
D905E |
probably benign |
Het |
| Musk |
A |
G |
4: 58,327,347 (GRCm39) |
D217G |
probably damaging |
Het |
| Napb |
T |
C |
2: 148,540,880 (GRCm39) |
T236A |
probably benign |
Het |
| Nbn |
T |
A |
4: 15,962,387 (GRCm39) |
D38E |
probably damaging |
Het |
| Ncaph |
T |
C |
2: 126,969,113 (GRCm39) |
N87D |
probably benign |
Het |
| Or4a78 |
A |
G |
2: 89,497,816 (GRCm39) |
V138A |
probably benign |
Het |
| Pcdhb13 |
T |
A |
18: 37,576,204 (GRCm39) |
V194E |
probably damaging |
Het |
| Pld5 |
C |
T |
1: 175,821,603 (GRCm39) |
G188S |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,590,179 (GRCm39) |
V48A |
probably damaging |
Het |
| Pnkd |
A |
G |
1: 74,389,793 (GRCm39) |
T306A |
probably benign |
Het |
| Ppm1k |
T |
C |
6: 57,491,975 (GRCm39) |
E279G |
probably damaging |
Het |
| Ppm1l |
G |
T |
3: 69,456,813 (GRCm39) |
K243N |
possibly damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,838,801 (GRCm39) |
T26A |
probably damaging |
Het |
| Rtel1 |
T |
C |
2: 180,964,202 (GRCm39) |
V67A |
probably benign |
Het |
| Rxfp4 |
T |
C |
3: 88,559,899 (GRCm39) |
E184G |
probably damaging |
Het |
| Scp2d1 |
A |
G |
2: 144,665,918 (GRCm39) |
I86V |
probably benign |
Het |
| Sec16a |
G |
T |
2: 26,315,862 (GRCm39) |
P1718Q |
probably damaging |
Het |
| Sgcg |
T |
A |
14: 61,459,195 (GRCm39) |
T245S |
probably benign |
Het |
| Slc18a2 |
A |
G |
19: 59,261,989 (GRCm39) |
T215A |
probably benign |
Het |
| Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
| Sox17 |
G |
T |
1: 4,562,378 (GRCm39) |
P146Q |
probably damaging |
Het |
| Spata31d1e |
A |
T |
13: 59,890,319 (GRCm39) |
Y500* |
probably null |
Het |
| Stimate |
C |
T |
14: 30,594,537 (GRCm39) |
L217F |
probably damaging |
Het |
| Sybu |
T |
A |
15: 44,536,478 (GRCm39) |
E616V |
probably damaging |
Het |
| Tk2 |
C |
T |
8: 104,957,825 (GRCm39) |
V174I |
probably benign |
Het |
| Tmc5 |
G |
A |
7: 118,244,618 (GRCm39) |
V499I |
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,523,956 (GRCm39) |
T15A |
probably benign |
Het |
| Ttll12 |
A |
G |
15: 83,464,831 (GRCm39) |
I448T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,584,101 (GRCm39) |
S22336P |
probably damaging |
Het |
| Ubap1 |
C |
A |
4: 41,379,163 (GRCm39) |
H126N |
probably damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,226,777 (GRCm39) |
N354D |
probably damaging |
Het |
| Vpreb3 |
A |
C |
10: 75,785,037 (GRCm39) |
H45P |
probably benign |
Het |
| Zc3h13 |
T |
A |
14: 75,546,380 (GRCm39) |
Y160* |
probably null |
Het |
|
| Other mutations in Pck1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00496:Pck1
|
APN |
2 |
172,995,911 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00817:Pck1
|
APN |
2 |
172,995,225 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02476:Pck1
|
APN |
2 |
173,000,075 (GRCm39) |
missense |
probably benign |
|
|
IGL02803:Pck1
|
APN |
2 |
172,997,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02874:Pck1
|
APN |
2 |
172,997,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02886:Pck1
|
APN |
2 |
172,996,649 (GRCm39) |
missense |
probably benign |
0.43 |
|
Limestone
|
UTSW |
2 |
173,000,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
limpet
|
UTSW |
2 |
172,995,805 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0041:Pck1
|
UTSW |
2 |
172,997,003 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0125:Pck1
|
UTSW |
2 |
172,997,874 (GRCm39) |
nonsense |
probably null |
|
|
R0238:Pck1
|
UTSW |
2 |
172,998,861 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0238:Pck1
|
UTSW |
2 |
172,998,861 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0373:Pck1
|
UTSW |
2 |
172,995,183 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R0595:Pck1
|
UTSW |
2 |
172,998,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1338:Pck1
|
UTSW |
2 |
173,000,203 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1623:Pck1
|
UTSW |
2 |
172,996,511 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1752:Pck1
|
UTSW |
2 |
172,998,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2107:Pck1
|
UTSW |
2 |
172,995,861 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2376:Pck1
|
UTSW |
2 |
172,998,909 (GRCm39) |
missense |
probably benign |
|
|
R2883:Pck1
|
UTSW |
2 |
173,000,368 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4718:Pck1
|
UTSW |
2 |
172,997,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4853:Pck1
|
UTSW |
2 |
172,996,507 (GRCm39) |
nonsense |
probably null |
|
|
R4907:Pck1
|
UTSW |
2 |
172,998,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4950:Pck1
|
UTSW |
2 |
172,996,620 (GRCm39) |
missense |
probably benign |
|
|
R5073:Pck1
|
UTSW |
2 |
172,998,770 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5134:Pck1
|
UTSW |
2 |
172,995,282 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5213:Pck1
|
UTSW |
2 |
172,997,878 (GRCm39) |
nonsense |
probably null |
|
|
R5244:Pck1
|
UTSW |
2 |
172,996,656 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5654:Pck1
|
UTSW |
2 |
173,000,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5831:Pck1
|
UTSW |
2 |
172,998,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Pck1
|
UTSW |
2 |
172,996,650 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6030:Pck1
|
UTSW |
2 |
172,996,650 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6143:Pck1
|
UTSW |
2 |
172,995,805 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6276:Pck1
|
UTSW |
2 |
172,999,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Pck1
|
UTSW |
2 |
172,998,860 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7860:Pck1
|
UTSW |
2 |
172,997,743 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8076:Pck1
|
UTSW |
2 |
172,997,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8187:Pck1
|
UTSW |
2 |
172,997,033 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8523:Pck1
|
UTSW |
2 |
172,999,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8729:Pck1
|
UTSW |
2 |
172,997,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8982:Pck1
|
UTSW |
2 |
172,999,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9124:Pck1
|
UTSW |
2 |
172,997,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9245:Pck1
|
UTSW |
2 |
172,996,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9520:Pck1
|
UTSW |
2 |
172,997,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9705:Pck1
|
UTSW |
2 |
173,000,170 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCATGCACGACCCCTTTG -3'
(R):5'- CAATTTCGTAAGGGAGGTCGG -3'
Sequencing Primer
(F):5'- GACCCCTTTGCCATGCGAC -3'
(R):5'- GGTCCTCCAGATACCTGTCG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation