Incidental Mutation 'R1417:G6pc2'
| ID |
159844 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
G6pc2
|
| Ensembl Gene |
ENSMUSG00000005232 |
| Gene Name |
glucose-6-phosphatase, catalytic, 2 |
| Synonyms |
IGRP, islet specific glucose-6-phosphatase, G6pc-rs |
| MMRRC Submission |
039473-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R1417 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
69041417-69058185 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69053312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 122
(V122A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005364]
[ENSMUST00000112317]
|
| AlphaFold |
Q9Z186 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005364
AA Change: V122A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005364
Gene: ENSMUSG00000005232
AA Change: V122A
| 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 damaging
Transcript: ENSMUST00000112317
AA Change: V122A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107936
Gene: ENSMUSG00000005232
AA Change: V122A
| 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 |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.8%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
A |
G |
16: 29,117,053 (GRCm39) |
V565A |
probably benign |
Het |
| Atp6v1b1 |
T |
C |
6: 83,730,862 (GRCm39) |
S196P |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ces1a |
C |
T |
8: 93,749,044 (GRCm39) |
D456N |
probably benign |
Het |
| Clu |
T |
A |
14: 66,212,420 (GRCm39) |
Y124* |
probably null |
Het |
| Cnnm1 |
A |
G |
19: 43,458,162 (GRCm39) |
E658G |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,846,573 (GRCm39) |
E2913G |
probably damaging |
Het |
| Edc4 |
G |
A |
8: 106,614,487 (GRCm39) |
|
probably null |
Het |
| Enox1 |
C |
T |
14: 77,723,445 (GRCm39) |
|
probably benign |
Het |
| Galns |
T |
C |
8: 123,311,652 (GRCm39) |
S453G |
possibly damaging |
Het |
| Gm12185 |
A |
C |
11: 48,798,669 (GRCm39) |
V608G |
probably damaging |
Het |
| Hbq1a |
A |
G |
11: 32,250,722 (GRCm39) |
D135G |
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,244,947 (GRCm39) |
T891A |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,413,993 (GRCm39) |
Y1445C |
probably damaging |
Het |
| Ipo8 |
C |
T |
6: 148,719,550 (GRCm39) |
D132N |
probably benign |
Het |
| Klhl11 |
T |
C |
11: 100,363,115 (GRCm39) |
E147G |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,764,311 (GRCm39) |
V41D |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,894,653 (GRCm39) |
I2306V |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,636,425 (GRCm39) |
V1514A |
probably benign |
Het |
| Lrrtm2 |
A |
T |
18: 35,347,011 (GRCm39) |
I97N |
probably damaging |
Het |
| Mtmr3 |
C |
A |
11: 4,437,923 (GRCm39) |
V844L |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,197,011 (GRCm39) |
E1832G |
probably damaging |
Het |
| Or4n5 |
T |
A |
14: 50,133,020 (GRCm39) |
R80* |
probably null |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,180 (GRCm39) |
T47A |
probably benign |
Het |
| Pfkp |
T |
C |
13: 6,655,755 (GRCm39) |
K293E |
probably benign |
Het |
| Phlpp2 |
G |
T |
8: 110,667,313 (GRCm39) |
E1281* |
probably null |
Het |
| Prss23 |
T |
A |
7: 89,159,392 (GRCm39) |
T226S |
probably damaging |
Het |
| Slc8a1 |
T |
G |
17: 81,715,709 (GRCm39) |
M775L |
probably damaging |
Het |
| Stx12 |
A |
G |
4: 132,587,853 (GRCm39) |
|
probably null |
Het |
| Syt11 |
A |
T |
3: 88,669,289 (GRCm39) |
I201N |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,783,327 (GRCm39) |
N543S |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,037,812 (GRCm39) |
N764S |
probably benign |
Het |
| Xylb |
A |
G |
9: 119,193,606 (GRCm39) |
D100G |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,500,284 (GRCm39) |
|
probably null |
Het |
| Zkscan16 |
T |
C |
4: 58,952,377 (GRCm39) |
V225A |
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 |
|
IGL02674:G6pc2
|
APN |
2 |
69,056,910 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGATGGAATCGTCTGAGGAAATCACAC -3'
(R):5'- TGGAATCCCAAAGGCGTATTTAGCAAG -3'
Sequencing Primer
(F):5'- GTCTCAAACGGACTCAGTTTGTC -3'
(R):5'- TCTGCTACATGGGCTATGAAAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation