Incidental Mutation 'IGL02507:Slc2a2'
ID 296399
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02507
Quality Score
Chromosome 3
Chromosomal Location 28752052-28782510 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28781260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 433 (T433A)
Ref Sequence ENSEMBL: ENSMUSP00000029240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029240] [ENSMUST00000163536]
AlphaFold P14246
Predicted Effect probably benign
Transcript: ENSMUST00000029240
AA Change: T433A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029240
Gene: ENSMUSG00000027690
AA Change: T433A

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 probably benign
Transcript: ENSMUST00000163536
SMART Domains Protein: ENSMUSP00000131046
Gene: ENSMUSG00000027690

Pfam:Sugar_tr 13 133 3.9e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169047
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 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,349,388 (GRCm39) Y3654C probably damaging Het
Aldh1l2 A C 10: 83,328,448 (GRCm39) Y756* probably null Het
Arhgef12 T C 9: 42,903,859 (GRCm39) E733G probably damaging Het
Art5 A T 7: 101,748,699 (GRCm39) M1K probably null Het
Atp1a2 A T 1: 172,113,338 (GRCm39) D448E probably damaging Het
Atp6v1b1 C T 6: 83,733,837 (GRCm39) T356I possibly damaging Het
Celsr1 A G 15: 85,784,889 (GRCm39) probably benign Het
Cep89 A G 7: 35,134,990 (GRCm39) Y686C probably damaging Het
Cgrrf1 T A 14: 47,090,901 (GRCm39) Y212* probably null Het
Chrnb1 T C 11: 69,675,916 (GRCm39) Y442C probably damaging Het
Clcn1 T C 6: 42,284,007 (GRCm39) probably benign Het
Clcn7 G A 17: 25,363,443 (GRCm39) V40M probably damaging Het
Cntn1 A G 15: 92,148,860 (GRCm39) Y369C possibly damaging Het
Csmd1 T C 8: 17,584,992 (GRCm39) probably benign Het
Dpy19l2 A T 9: 24,542,563 (GRCm39) C446S probably benign Het
Edem3 G A 1: 151,687,407 (GRCm39) E782K probably benign Het
Efcab15 T A 11: 103,090,275 (GRCm39) Q287L probably damaging Het
Ephb3 T A 16: 21,039,389 (GRCm39) probably benign Het
Fndc4 T C 5: 31,452,090 (GRCm39) D109G probably damaging Het
Fras1 T C 5: 96,805,267 (GRCm39) V1303A possibly damaging Het
Gcn1 T C 5: 115,723,940 (GRCm39) L532P probably benign Het
Gm5150 A G 3: 16,017,485 (GRCm39) L262P probably damaging Het
Hbb-bs T C 7: 103,477,091 (GRCm39) probably benign Het
Krt74 A G 15: 101,669,059 (GRCm39) noncoding transcript Het
Myo1a T C 10: 127,548,478 (GRCm39) V375A probably damaging Het
Nup160 A T 2: 90,560,079 (GRCm39) Q1268L probably benign Het
Or4k42 G A 2: 111,319,768 (GRCm39) T245M possibly damaging Het
Or51ag1 G T 7: 103,155,925 (GRCm39) S76* probably null Het
Or5d16 G A 2: 87,773,262 (GRCm39) R237* probably null Het
Or9s27 T C 1: 92,516,648 (GRCm39) S199P possibly damaging Het
Pan3 T C 5: 147,463,406 (GRCm39) S497P probably damaging Het
Pex5 T C 6: 124,390,264 (GRCm39) T138A probably benign Het
Pik3ap1 A G 19: 41,270,451 (GRCm39) probably benign Het
Ptchd4 A T 17: 42,627,764 (GRCm39) H75L possibly damaging Het
Rag2 A T 2: 101,461,055 (GRCm39) H455L probably damaging Het
Rergl T A 6: 139,470,351 (GRCm39) E159V probably damaging Het
Rrn3 A G 16: 13,606,721 (GRCm39) N109S probably benign Het
Scn1a A T 2: 66,108,157 (GRCm39) V1523D probably damaging Het
Sec23a A G 12: 59,053,884 (GRCm39) V38A probably benign Het
Slc15a2 G A 16: 36,602,021 (GRCm39) T92M possibly damaging Het
Sptan1 A G 2: 29,906,067 (GRCm39) D1671G probably damaging Het
Stab1 A G 14: 30,861,167 (GRCm39) probably benign Het
Stau2 A T 1: 16,556,293 (GRCm39) I22N possibly damaging Het
Strn3 A T 12: 51,708,410 (GRCm39) Y123* probably null Het
Tmem205 A G 9: 21,837,607 (GRCm39) V13A possibly damaging Het
Trub1 G A 19: 57,472,009 (GRCm39) probably benign Het
Ttn A G 2: 76,568,699 (GRCm39) V27398A possibly damaging Het
Vill A G 9: 118,899,845 (GRCm39) E343G possibly damaging Het
Zgpat T C 2: 181,008,029 (GRCm39) F189L probably damaging Het
Other mutations in Slc2a2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R1292:Slc2a2 UTSW 3 28,771,637 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16