Incidental Mutation 'IGL02674:G6pc2'
| ID |
303066 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
G6pc2
|
| Ensembl Gene |
ENSMUSG00000005232 |
| Gene Name |
glucose-6-phosphatase, catalytic, 2 |
| Synonyms |
IGRP, islet specific glucose-6-phosphatase, G6pc-rs |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL02674
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
69041417-69058185 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 69056910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005364]
[ENSMUST00000112317]
|
| AlphaFold |
Q9Z186 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000005364
|
| SMART Domains |
Protein: ENSMUSP00000005364
Gene: ENSMUSG00000005232
| Domain | Start | End | E-Value | Type |
|---|
|
acidPPc
|
53 |
194 |
7.83e-21 |
SMART |
|
transmembrane domain
|
212 |
234 |
N/A |
INTRINSIC |
|
transmembrane domain
|
254 |
273 |
N/A |
INTRINSIC |
|
transmembrane domain
|
319 |
341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112317
|
| SMART Domains |
Protein: ENSMUSP00000107936
Gene: ENSMUSG00000005232
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1d2ta_
|
6 |
126 |
5e-13 |
SMART |
|
Blast:acidPPc
|
53 |
147 |
1e-65 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129288
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151953
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes an enzyme that belongs to the glucose-6-phosphatase catalytic subunit family. Members of this family catalyze the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, to release glucose into the bloodstream. The family member encoded by this gene is found specifically in pancreatic islets but has not been shown to have phosphotransferase or phosphatase activity exhibited by a similar liver enzyme. The non-obese diabetic (NOD) mouse is a model for human type 1 diabetes, an autoimmune disease in which T lymphocytes attack and destroy insulin-producing pancreatic beta cells. In NOD mice, the protein encoded by this gene is a major target of cell-mediated autoimmunity. Variations in the human and mouse genes are associated with lower fasting plasma glucose levels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a disruption of this gene show a significant drop in fasting blood glucose. Females also show a significant drop in plasma triacylglycerol. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
T |
C |
15: 72,983,643 (GRCm39) |
R689G |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
| Akna |
A |
T |
4: 63,289,181 (GRCm39) |
C1247* |
probably null |
Het |
| Appl1 |
T |
G |
14: 26,671,418 (GRCm39) |
T345P |
possibly damaging |
Het |
| Chga |
A |
G |
12: 102,529,160 (GRCm39) |
D379G |
probably damaging |
Het |
| Chrna6 |
C |
T |
8: 27,896,879 (GRCm39) |
A333T |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,282,178 (GRCm39) |
G813E |
unknown |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,370,688 (GRCm39) |
Q4656R |
probably benign |
Het |
| Dock9 |
A |
C |
14: 121,833,023 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
G |
3: 39,037,486 (GRCm39) |
N3713D |
probably benign |
Het |
| Fsd1 |
A |
T |
17: 56,303,483 (GRCm39) |
T452S |
probably benign |
Het |
| Gfus |
T |
C |
15: 75,798,238 (GRCm39) |
D178G |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,874,913 (GRCm39) |
T288A |
probably benign |
Het |
| Kcnh4 |
C |
A |
11: 100,637,720 (GRCm39) |
V646L |
possibly damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,753 (GRCm39) |
Y120H |
probably damaging |
Het |
| L3mbtl3 |
C |
T |
10: 26,158,711 (GRCm39) |
E646K |
unknown |
Het |
| Lrrc4c |
T |
C |
2: 97,460,120 (GRCm39) |
W249R |
probably damaging |
Het |
| Meox1 |
A |
T |
11: 101,784,767 (GRCm39) |
L22H |
probably damaging |
Het |
| Mrgpra4 |
C |
T |
7: 47,630,690 (GRCm39) |
V304M |
probably benign |
Het |
| Ncaph |
T |
C |
2: 126,955,496 (GRCm39) |
Y554C |
probably damaging |
Het |
| Nfx1 |
T |
C |
4: 40,999,717 (GRCm39) |
|
probably null |
Het |
| Or10p1 |
A |
C |
10: 129,443,939 (GRCm39) |
M137R |
possibly damaging |
Het |
| Or8g37 |
A |
G |
9: 39,730,934 (GRCm39) |
|
probably null |
Het |
| Otol1 |
C |
T |
3: 69,926,077 (GRCm39) |
P84L |
probably benign |
Het |
| Pcdhb11 |
T |
C |
18: 37,556,667 (GRCm39) |
S666P |
probably damaging |
Het |
| Pou2f3 |
T |
C |
9: 43,050,628 (GRCm39) |
K244R |
probably damaging |
Het |
| Ppp6r1 |
T |
C |
7: 4,649,812 (GRCm39) |
N51S |
probably damaging |
Het |
| Prdm4 |
A |
T |
10: 85,729,263 (GRCm39) |
L715M |
probably damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rsc1a1 |
G |
T |
4: 141,411,406 (GRCm39) |
P502Q |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 97,954,840 (GRCm39) |
E448G |
probably damaging |
Het |
| Shd |
A |
G |
17: 56,278,554 (GRCm39) |
D39G |
possibly damaging |
Het |
| Skint5 |
A |
C |
4: 113,487,582 (GRCm39) |
|
probably benign |
Het |
| Tmprss15 |
T |
G |
16: 78,798,682 (GRCm39) |
T667P |
possibly damaging |
Het |
| Vps13b |
A |
T |
15: 35,640,104 (GRCm39) |
M1325L |
probably benign |
Het |
| Zfp263 |
T |
C |
16: 3,564,629 (GRCm39) |
|
probably benign |
Het |
| Zfp786 |
A |
G |
6: 47,797,427 (GRCm39) |
F504L |
probably benign |
Het |
|
| Other mutations in G6pc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01571:G6pc2
|
APN |
2 |
69,053,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02031:G6pc2
|
APN |
2 |
69,053,335 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02504:G6pc2
|
APN |
2 |
69,056,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03339:G6pc2
|
APN |
2 |
69,051,239 (GRCm39) |
splice site |
probably benign |
|
|
R0011:G6pc2
|
UTSW |
2 |
69,056,909 (GRCm39) |
splice site |
probably benign |
|
|
R1113:G6pc2
|
UTSW |
2 |
69,050,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1308:G6pc2
|
UTSW |
2 |
69,050,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1417:G6pc2
|
UTSW |
2 |
69,053,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1441:G6pc2
|
UTSW |
2 |
69,051,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1658:G6pc2
|
UTSW |
2 |
69,057,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:G6pc2
|
UTSW |
2 |
69,051,186 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1768:G6pc2
|
UTSW |
2 |
69,053,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3161:G6pc2
|
UTSW |
2 |
69,050,456 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5487:G6pc2
|
UTSW |
2 |
69,056,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5623:G6pc2
|
UTSW |
2 |
69,056,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5686:G6pc2
|
UTSW |
2 |
69,051,128 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7493:G6pc2
|
UTSW |
2 |
69,053,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7733:G6pc2
|
UTSW |
2 |
69,050,527 (GRCm39) |
nonsense |
probably null |
|
|
R8492:G6pc2
|
UTSW |
2 |
69,050,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8534:G6pc2
|
UTSW |
2 |
69,050,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8749:G6pc2
|
UTSW |
2 |
69,057,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8797:G6pc2
|
UTSW |
2 |
69,050,441 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0040:G6pc2
|
UTSW |
2 |
69,053,354 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Posted On |
2015-04-16 |
Incidental Mutation