Incidental Mutation 'R1292:Slc2a2'
| ID |
150806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc2a2
|
| Ensembl Gene |
ENSMUSG00000027690 |
| Gene Name |
solute carrier family 2 (facilitated glucose transporter), member 2 |
| Synonyms |
liver-type glucose transporter, Glut2, Glut-2 |
| MMRRC Submission |
039358-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1292 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
28752052-28782510 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 28771637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 189
(T189I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029240]
[ENSMUST00000163536]
|
| AlphaFold |
P14246 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029240
AA Change: T189I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029240
Gene: ENSMUSG00000027690
AA Change: T189I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
9 |
442 |
4.2e-23 |
PFAM |
|
Pfam:Sugar_tr
|
13 |
498 |
2.4e-165 |
PFAM |
|
Pfam:Folate_carrier
|
187 |
458 |
5.3e-12 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000163536
|
| SMART Domains |
Protein: ENSMUSP00000131046
Gene: ENSMUSG00000027690
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
13 |
133 |
3.9e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167704
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169047
|
| Meta Mutation Damage Score |
0.3177 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
97% (31/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous null mice are hyperglycemic with hypoinsulinemia and die within 2-3 weeks of life displaying increased plasma levels of glucagon, free fatty acids and beta-hydroxybutyrate, abnormal glucose tolerance, and altered postnatal development of pancreatic islets. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
T |
A |
9: 53,336,919 (GRCm39) |
D74E |
probably benign |
Het |
| Abcb1a |
A |
T |
5: 8,763,343 (GRCm39) |
T624S |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,704,092 (GRCm39) |
Y342C |
probably damaging |
Het |
| Clcnka |
A |
G |
4: 141,122,903 (GRCm39) |
|
probably benign |
Het |
| Cma2 |
C |
T |
14: 56,211,199 (GRCm39) |
R164C |
probably damaging |
Het |
| Cnga1 |
T |
C |
5: 72,762,026 (GRCm39) |
D496G |
probably damaging |
Het |
| Ctbp2 |
T |
A |
7: 132,616,918 (GRCm39) |
R6W |
probably damaging |
Het |
| Cyp3a11 |
T |
C |
5: 145,802,804 (GRCm39) |
T230A |
probably benign |
Het |
| Defb40 |
A |
C |
8: 19,028,080 (GRCm39) |
I18S |
probably benign |
Het |
| Fcgbpl1 |
A |
C |
7: 27,842,219 (GRCm39) |
|
probably benign |
Het |
| Gm10036 |
T |
G |
18: 15,966,368 (GRCm39) |
I173S |
possibly damaging |
Het |
| Herc2 |
A |
T |
7: 55,846,951 (GRCm39) |
I3634L |
probably benign |
Het |
| Igfbp1 |
A |
G |
11: 7,150,863 (GRCm39) |
N218S |
probably damaging |
Het |
| Jag1 |
C |
G |
2: 136,925,393 (GRCm39) |
V1070L |
possibly damaging |
Het |
| Kmt2a |
A |
T |
9: 44,725,991 (GRCm39) |
|
probably benign |
Het |
| Ly9 |
T |
C |
1: 171,416,671 (GRCm39) |
|
probably null |
Het |
| Mmut |
C |
A |
17: 41,252,298 (GRCm39) |
A280E |
probably damaging |
Het |
| Or5k16 |
C |
T |
16: 58,736,134 (GRCm39) |
R290K |
probably damaging |
Het |
| Or6k6 |
A |
G |
1: 173,945,420 (GRCm39) |
F54S |
probably benign |
Het |
| Pcdhb13 |
T |
C |
18: 37,576,885 (GRCm39) |
V421A |
probably benign |
Het |
| Pik3ca |
T |
A |
3: 32,508,569 (GRCm39) |
L779Q |
probably damaging |
Het |
| Plxnd1 |
T |
C |
6: 115,939,644 (GRCm39) |
|
probably benign |
Het |
| Prss16 |
T |
A |
13: 22,193,691 (GRCm39) |
K35* |
probably null |
Het |
| Rhbdl2 |
G |
A |
4: 123,723,435 (GRCm39) |
A280T |
possibly damaging |
Het |
| Srsf6 |
C |
T |
2: 162,776,403 (GRCm39) |
|
probably benign |
Het |
| Tacr1 |
A |
G |
6: 82,531,856 (GRCm39) |
I251V |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,534,578 (GRCm39) |
|
probably null |
Het |
| Vdac3-ps1 |
T |
C |
13: 18,205,880 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp458 |
A |
T |
13: 67,404,754 (GRCm39) |
C562S |
probably damaging |
Het |
|
| Other mutations in Slc2a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00836:Slc2a2
|
APN |
3 |
28,772,890 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01582:Slc2a2
|
APN |
3 |
28,762,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01762:Slc2a2
|
APN |
3 |
28,771,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01942:Slc2a2
|
APN |
3 |
28,759,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02128:Slc2a2
|
APN |
3 |
28,773,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02218:Slc2a2
|
APN |
3 |
28,752,174 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02278:Slc2a2
|
APN |
3 |
28,771,604 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02507:Slc2a2
|
APN |
3 |
28,781,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02649:Slc2a2
|
APN |
3 |
28,772,885 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03323:Slc2a2
|
APN |
3 |
28,780,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03147:Slc2a2
|
UTSW |
3 |
28,773,519 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0063:Slc2a2
|
UTSW |
3 |
28,771,589 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0063:Slc2a2
|
UTSW |
3 |
28,771,589 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0365:Slc2a2
|
UTSW |
3 |
28,762,828 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0494:Slc2a2
|
UTSW |
3 |
28,781,426 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0519:Slc2a2
|
UTSW |
3 |
28,772,965 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1755:Slc2a2
|
UTSW |
3 |
28,767,811 (GRCm39) |
splice site |
probably null |
|
|
R1965:Slc2a2
|
UTSW |
3 |
28,773,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Slc2a2
|
UTSW |
3 |
28,773,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1982:Slc2a2
|
UTSW |
3 |
28,771,590 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2937:Slc2a2
|
UTSW |
3 |
28,772,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3121:Slc2a2
|
UTSW |
3 |
28,775,898 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3721:Slc2a2
|
UTSW |
3 |
28,781,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Slc2a2
|
UTSW |
3 |
28,771,681 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5206:Slc2a2
|
UTSW |
3 |
28,762,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6829:Slc2a2
|
UTSW |
3 |
28,781,590 (GRCm39) |
nonsense |
probably null |
|
|
R6864:Slc2a2
|
UTSW |
3 |
28,775,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Slc2a2
|
UTSW |
3 |
28,771,668 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7178:Slc2a2
|
UTSW |
3 |
28,773,631 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7599:Slc2a2
|
UTSW |
3 |
28,752,166 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R7616:Slc2a2
|
UTSW |
3 |
28,781,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8879:Slc2a2
|
UTSW |
3 |
28,767,951 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCCATGTTTGGGGACAAGG -3'
(R):5'- TCGTATTGCCAATCCCACCAGC -3'
Sequencing Primer
(F):5'- GGGGACATCTGAAGTATGACTTTC -3'
(R):5'- TGGAAATAAGTCACCTCTGAGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation