Incidental Mutation 'IGL03323:Slc2a2'
ID 416544
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 # IGL03323
Quality Score
Status
Chromosome 3
Chromosomal Location 28752052-28782510 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 28780439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 375 (M375I)
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: M375I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029240
Gene: ENSMUSG00000027690
AA Change: M375I

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 A T 14: 103,292,730 (GRCm39) D418V probably damaging Het
Ahdc1 G A 4: 132,792,739 (GRCm39) G1327S probably benign Het
Bcl2l15 A T 3: 103,740,719 (GRCm39) I62L probably benign Het
Ccdc7a A T 8: 129,785,244 (GRCm39) D105E probably benign Het
Cldn12 C A 5: 5,558,421 (GRCm39) G2V probably damaging Het
Eapp G T 12: 54,720,400 (GRCm39) H272N probably damaging Het
Fcrla A G 1: 170,755,114 (GRCm39) probably benign Het
Fmnl3 C T 15: 99,219,162 (GRCm39) G787S probably damaging Het
Fmo5 G T 3: 97,546,323 (GRCm39) probably null Het
Golgb1 G T 16: 36,733,815 (GRCm39) E1021* probably null Het
Hspa4 A T 11: 53,155,960 (GRCm39) N648K probably benign Het
Iigp1 T C 18: 60,522,896 (GRCm39) F5L probably benign Het
Lad1 T A 1: 135,758,712 (GRCm39) probably null Het
Man2b2 T C 5: 36,975,858 (GRCm39) D399G probably benign Het
Mc5r C T 18: 68,472,286 (GRCm39) T215I probably benign Het
Mx2 A G 16: 97,347,575 (GRCm39) S156G probably damaging Het
Necap2 A T 4: 140,795,533 (GRCm39) I242N possibly damaging Het
Nme8 C T 13: 19,873,120 (GRCm39) E175K probably benign Het
Notch4 T A 17: 34,801,445 (GRCm39) C1098S probably damaging Het
Or1j16 T A 2: 36,530,153 (GRCm39) M34K possibly damaging Het
Or7a42 T C 10: 78,791,434 (GRCm39) Y132H probably benign Het
Osbpl9 A G 4: 108,919,656 (GRCm39) probably benign Het
Prag1 T C 8: 36,607,162 (GRCm39) S968P probably damaging Het
Qsox2 A G 2: 26,110,991 (GRCm39) S125P probably benign Het
Rptn A G 3: 93,304,460 (GRCm39) T598A probably benign Het
Tmed9 C T 13: 55,744,691 (GRCm39) T173I probably damaging Het
Trank1 A G 9: 111,181,184 (GRCm39) D402G probably damaging Het
Ttc21a G T 9: 119,769,602 (GRCm39) probably benign Het
Vmn2r58 T C 7: 41,511,295 (GRCm39) M503V probably benign 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
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
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 2016-08-02