Incidental Mutation 'IGL01942:Slc2a2'
ID 180874
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 # IGL01942
Quality Score
Chromosome 3
Chromosomal Location 28752052-28782510 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28759952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 30 (V30A)
Ref Sequence ENSEMBL: ENSMUSP00000131046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029240] [ENSMUST00000163536]
AlphaFold P14246
Predicted Effect probably damaging
Transcript: ENSMUST00000029240
AA Change: V30A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029240
Gene: ENSMUSG00000027690
AA Change: V30A

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 damaging
Transcript: ENSMUST00000163536
AA Change: V30A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131046
Gene: ENSMUSG00000027690
AA Change: V30A

Pfam:Sugar_tr 13 133 3.9e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167704
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G A 7: 45,635,997 (GRCm39) R1017W possibly damaging Het
Arhgef26 A G 3: 62,247,515 (GRCm39) R200G probably benign Het
Arid4b A T 13: 14,310,749 (GRCm39) probably benign Het
Atp1a2 A C 1: 172,113,876 (GRCm39) S369A probably benign Het
Bag3 T A 7: 128,148,024 (GRCm39) D546E probably benign Het
Bcl6b T A 11: 70,117,569 (GRCm39) Y379F probably damaging Het
Cbln2 T C 18: 86,734,450 (GRCm39) V136A probably benign Het
Ccnf A T 17: 24,461,294 (GRCm39) D120E probably benign Het
Cd14 T A 18: 36,858,693 (GRCm39) H254L possibly damaging Het
Chd3 A G 11: 69,240,931 (GRCm39) probably null Het
Csf2rb G A 15: 78,224,692 (GRCm39) R150H probably benign Het
Dhx35 T C 2: 158,673,784 (GRCm39) L405P probably damaging Het
Dpf1 G A 7: 29,015,927 (GRCm39) C383Y probably damaging Het
Dse T A 10: 34,031,989 (GRCm39) Q345L probably benign Het
Gnaz A G 10: 74,850,706 (GRCm39) M244V probably damaging Het
Gpr65 A T 12: 98,241,974 (GRCm39) Y209F possibly damaging Het
Inpp5f T C 7: 128,269,493 (GRCm39) I281T probably damaging Het
Kntc1 T C 5: 123,916,330 (GRCm39) F721S probably damaging Het
Mapk8ip2 G A 15: 89,341,220 (GRCm39) probably null Het
Med24 G A 11: 98,600,508 (GRCm39) R646W probably damaging Het
Nup98 A T 7: 101,843,918 (GRCm39) F102Y probably damaging Het
Or1n2 A G 2: 36,797,869 (GRCm39) M304V probably benign Het
Or4c35 G T 2: 89,808,322 (GRCm39) V67L probably benign Het
Or8g50 A T 9: 39,648,962 (GRCm39) M284L possibly damaging Het
Pgap3 T C 11: 98,288,780 (GRCm39) Y125C probably damaging Het
Rasl12 T C 9: 65,315,644 (GRCm39) V96A probably damaging Het
Rbm20 G A 19: 53,801,874 (GRCm39) M127I probably damaging Het
Rnf114 T A 2: 167,354,546 (GRCm39) probably null Het
Serpinb1b C T 13: 33,269,294 (GRCm39) T9I possibly damaging Het
Setd1b T A 5: 123,301,489 (GRCm39) F16I possibly damaging Het
Slc25a28 A G 19: 43,652,947 (GRCm39) F238S probably damaging Het
Slc35f4 T C 14: 49,762,962 (GRCm39) probably benign Het
Socs4 T A 14: 47,528,107 (GRCm39) C347* probably null Het
Spock1 C T 13: 57,578,141 (GRCm39) E367K probably damaging Het
Ubap2 C T 4: 41,251,608 (GRCm39) R8H probably benign Het
Vmn1r44 T A 6: 89,870,806 (GRCm39) M41K probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfp575 T C 7: 24,285,240 (GRCm39) T134A possibly 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
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
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 2014-05-07