Incidental Mutation 'IGL02649:Slc2a2'
ID302057
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc2a2
Ensembl Gene ENSMUSG00000027690
Gene Namesolute carrier family 2 (facilitated glucose transporter), member 2
SynonymsGlut2, liver-type glucose transporter, Glut-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02649
Quality Score
Status
Chromosome3
Chromosomal Location28697903-28731359 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 28718736 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 226 (V226E)
Ref Sequence ENSEMBL: ENSMUSP00000029240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029240] [ENSMUST00000163536]
Predicted Effect probably damaging
Transcript: ENSMUST00000029240
AA Change: V226E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029240
Gene: ENSMUSG00000027690
AA Change: V226E

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat A T 11: 116,595,646 I4F probably benign Het
Adamts17 T G 7: 66,849,878 probably benign Het
Adcy1 A T 11: 7,167,156 M1008L probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atrnl1 T G 19: 57,650,441 probably benign Het
Brd3 T A 2: 27,454,350 E456V probably damaging Het
Cabin1 A T 10: 75,737,418 L712H probably damaging Het
Ccna1 T A 3: 55,054,386 T38S probably damaging Het
Chadl T A 15: 81,695,858 I59F probably benign Het
Chmp3 T C 6: 71,552,433 M27T possibly damaging Het
Clcn1 C T 6: 42,298,829 T295I probably damaging Het
Col6a6 A G 9: 105,727,170 probably null Het
Dennd2a T A 6: 39,470,356 H776L probably benign Het
Dimt1 G A 13: 106,948,711 R55K probably benign Het
Dlg5 T A 14: 24,146,251 D1626V probably damaging Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Hectd4 T C 5: 121,349,402 S3487P possibly damaging Het
Hivep1 T C 13: 42,157,311 V1009A possibly damaging Het
Ifna12 A T 4: 88,602,854 V152E probably damaging Het
Igf2r A T 17: 12,712,087 C903S possibly damaging Het
Ipo9 T C 1: 135,385,934 D1002G possibly damaging Het
Isyna1 T C 8: 70,596,254 S328P probably damaging Het
Lamc1 G A 1: 153,247,042 T764I possibly damaging Het
Lta4h T C 10: 93,472,969 V377A probably benign Het
Lyz2 C T 10: 117,282,185 V20I probably benign Het
Myo3a A T 2: 22,323,607 L329F probably benign Het
Nlgn2 T C 11: 69,825,802 T638A probably benign Het
Oasl2 A G 5: 114,897,692 T10A probably damaging Het
Olfr173 T A 16: 58,797,350 R165S probably damaging Het
Olfr761 A T 17: 37,952,973 F17Y probably damaging Het
Pde10a A T 17: 8,953,772 N296I probably damaging Het
Plb1 A G 5: 32,362,568 I1385M probably benign Het
Pld1 T C 3: 28,087,229 V647A probably damaging Het
Pnp T C 14: 50,947,846 probably benign Het
Ppl A T 16: 5,087,463 I1656K probably damaging Het
Rimbp3 G T 16: 17,209,608 E299* probably null Het
Sbsn C A 7: 30,753,258 A566D probably damaging Het
Sh3rf1 T A 8: 61,363,191 M494K probably damaging Het
Smarca2 T A 19: 26,640,586 I339N possibly damaging Het
Ssfa2 T C 2: 79,641,959 probably benign Het
Tenm2 G T 11: 36,207,085 S445R possibly damaging Het
Tmem136 C A 9: 43,111,488 K190N probably benign Het
Tnip2 A T 5: 34,513,731 L56Q probably damaging Het
Trpv1 C T 11: 73,250,786 S485F probably damaging Het
Vmn2r23 T C 6: 123,704,478 M115T probably benign Het
Zbtb38 G A 9: 96,686,619 T804I probably damaging Het
Zfhx3 T C 8: 108,793,535 S430P possibly damaging Het
Other mutations in Slc2a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Slc2a2 APN 3 28718741 missense possibly damaging 0.86
IGL01582:Slc2a2 APN 3 28708488 missense probably benign 0.01
IGL01762:Slc2a2 APN 3 28717472 missense probably damaging 1.00
IGL01942:Slc2a2 APN 3 28705803 missense probably damaging 1.00
IGL02128:Slc2a2 APN 3 28719401 missense probably damaging 1.00
IGL02218:Slc2a2 APN 3 28698025 missense possibly damaging 0.94
IGL02278:Slc2a2 APN 3 28717455 missense probably damaging 0.99
IGL02507:Slc2a2 APN 3 28727111 missense probably benign 0.00
IGL03323:Slc2a2 APN 3 28726290 missense probably damaging 1.00
IGL03147:Slc2a2 UTSW 3 28719370 missense possibly damaging 0.56
R0063:Slc2a2 UTSW 3 28717440 missense probably damaging 0.98
R0063:Slc2a2 UTSW 3 28717440 missense probably damaging 0.98
R0365:Slc2a2 UTSW 3 28708679 critical splice donor site probably null
R0494:Slc2a2 UTSW 3 28727277 missense probably benign 0.01
R0519:Slc2a2 UTSW 3 28718816 missense possibly damaging 0.54
R1292:Slc2a2 UTSW 3 28717488 missense probably damaging 1.00
R1755:Slc2a2 UTSW 3 28713662 splice site probably null
R1965:Slc2a2 UTSW 3 28719485 missense probably damaging 1.00
R1966:Slc2a2 UTSW 3 28719485 missense probably damaging 1.00
R1982:Slc2a2 UTSW 3 28717441 missense probably benign 0.36
R2937:Slc2a2 UTSW 3 28718771 missense probably damaging 1.00
R3121:Slc2a2 UTSW 3 28721749 missense probably benign 0.01
R3721:Slc2a2 UTSW 3 28727152 missense probably damaging 1.00
R4799:Slc2a2 UTSW 3 28717532 critical splice donor site probably null
R5206:Slc2a2 UTSW 3 28708607 missense probably damaging 1.00
R6829:Slc2a2 UTSW 3 28727441 nonsense probably null
R6864:Slc2a2 UTSW 3 28721725 missense probably damaging 1.00
R6932:Slc2a2 UTSW 3 28717519 missense probably benign 0.40
R7178:Slc2a2 UTSW 3 28719482 missense possibly damaging 0.90
R7599:Slc2a2 UTSW 3 28698017 start codon destroyed probably null 0.02
R7616:Slc2a2 UTSW 3 28727111 missense probably benign 0.00
Posted On2015-04-16