Incidental Mutation 'R6932:Slc2a2'
ID 554304
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 045047-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6932 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 28752052-28782510 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28771668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 158 (S158P)
Ref Sequence ENSEMBL: ENSMUSP00000131046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029240] [ENSMUST00000163536]
AlphaFold P14246
Predicted Effect silent
Transcript: ENSMUST00000029240
SMART Domains Protein: ENSMUSP00000029240
Gene: ENSMUSG00000027690

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
AA Change: S158P

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131046
Gene: ENSMUSG00000027690
AA Change: S158P

DomainStartEndE-ValueType
Pfam:Sugar_tr 13 133 3.9e-19 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 98% (80/82)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads A T 5: 115,250,331 (GRCm39) F198I probably damaging Het
Acy1 A G 9: 106,314,826 (GRCm39) probably null Het
Adk A G 14: 21,126,376 (GRCm39) M1V probably null Het
Ahi1 A G 10: 20,839,590 (GRCm39) D167G probably benign Het
Ankrd16 T C 2: 11,791,054 (GRCm39) V290A possibly damaging Het
Arhgef5 T A 6: 43,251,351 (GRCm39) S701T possibly damaging Het
Atp13a5 C A 16: 29,100,769 (GRCm39) M673I probably damaging Het
BC005624 T C 2: 30,868,940 (GRCm39) D78G possibly damaging Het
Bcat2 C T 7: 45,238,745 (GRCm39) H347Y probably damaging Het
Bpifb4 A G 2: 153,784,547 (GRCm39) Y85C possibly damaging Het
Cdc42 T A 4: 137,049,932 (GRCm39) probably null Het
Cep170 G A 1: 176,589,003 (GRCm39) L541F possibly damaging Het
Cfap97d2 CA CAA 8: 13,784,865 (GRCm39) probably null Het
Cgrrf1 T A 14: 47,091,179 (GRCm39) N234K probably benign Het
Ctrc C T 4: 141,568,879 (GRCm39) C108Y probably damaging Het
Cyp2u1 C T 3: 131,091,945 (GRCm39) V192M possibly damaging Het
Dhx38 A T 8: 110,279,307 (GRCm39) L1013Q probably damaging Het
Dnah1 T A 14: 31,009,733 (GRCm39) N1945I probably damaging Het
Dnah10 C G 5: 124,898,514 (GRCm39) N3765K possibly damaging Het
Dnah17 C A 11: 117,950,905 (GRCm39) R2906L possibly damaging Het
Dnajc10 C T 2: 80,161,680 (GRCm39) T306I probably benign Het
Efemp2 T A 19: 5,530,273 (GRCm39) C287S probably damaging Het
Efna1 T C 3: 89,180,091 (GRCm39) R143G probably benign Het
Emilin1 A C 5: 31,074,421 (GRCm39) N221H probably damaging Het
Epg5 A G 18: 77,991,824 (GRCm39) T174A probably benign Het
Fam184b T A 5: 45,690,243 (GRCm39) probably null Het
Fchsd2 T A 7: 100,926,621 (GRCm39) C570* probably null Het
Gm4787 A T 12: 81,425,974 (GRCm39) D61E probably benign Het
Gm7356 C T 17: 14,221,925 (GRCm39) G35R probably damaging Het
Gm8220 A G 14: 44,525,645 (GRCm39) T20A probably damaging Het
Hivep2 C T 10: 14,004,245 (GRCm39) T281M probably damaging Het
Ighv2-9-1 A G 12: 113,733,692 (GRCm39) V43A probably damaging Het
Klhl33 A T 14: 51,129,373 (GRCm39) C619S probably benign Het
Kmt2a A T 9: 44,740,558 (GRCm39) probably benign Het
Lax1 A G 1: 133,607,896 (GRCm39) C282R probably benign Het
Lrrd1 A G 5: 3,901,395 (GRCm39) K567E probably benign Het
Luzp1 C T 4: 136,268,124 (GRCm39) R116* probably null Het
Lypd3 G C 7: 24,337,858 (GRCm39) G75R probably damaging Het
Macrod2 A T 2: 140,261,833 (GRCm39) N38I probably damaging Het
Map3k14 A T 11: 103,132,958 (GRCm39) I80N probably damaging Het
Mcm9 A G 10: 53,496,299 (GRCm39) S368P probably benign Het
Mfge8 T C 7: 78,793,049 (GRCm39) D139G probably benign Het
Mmp19 A T 10: 128,627,523 (GRCm39) I54F probably benign Het
Myo15a G T 11: 60,390,320 (GRCm39) W2114L probably damaging Het
Myo1a G T 10: 127,546,327 (GRCm39) V277L probably benign Het
Myoc A G 1: 162,466,915 (GRCm39) D28G probably damaging Het
Myrf G T 19: 10,196,924 (GRCm39) N487K probably damaging Het
Omd T A 13: 49,743,710 (GRCm39) F253L probably damaging Het
Or2ag19 G T 7: 106,444,009 (GRCm39) G64* probably null Het
Or5t5 C G 2: 86,616,499 (GRCm39) L142V probably damaging Het
Or6n1 G A 1: 173,917,316 (GRCm39) A237T probably damaging Het
Papss1 T G 3: 131,305,732 (GRCm39) I238S probably damaging Het
Pkhd1 A T 1: 20,632,675 (GRCm39) F580Y probably benign Het
Polk T A 13: 96,653,189 (GRCm39) K70N probably damaging Het
Ppig T A 2: 69,562,755 (GRCm39) D31E probably benign Het
Ppp6r1 G T 7: 4,636,291 (GRCm39) S766R possibly damaging Het
Rab11fip5 T C 6: 85,318,540 (GRCm39) D783G probably benign Het
Reln T C 5: 22,190,855 (GRCm39) I1511V probably benign Het
Rnh1 T C 7: 140,743,096 (GRCm39) N268S probably damaging Het
Rpia A G 6: 70,750,424 (GRCm39) V236A probably benign Het
Rpl10a G T 17: 28,548,424 (GRCm39) V80L probably benign Het
Sap130 T G 18: 31,799,407 (GRCm39) S295A possibly damaging Het
Sgms1 C T 19: 32,120,193 (GRCm39) V238I probably benign Het
Sh3tc1 A G 5: 35,864,778 (GRCm39) S470P probably benign Het
Slc25a32 A G 15: 38,960,984 (GRCm39) V233A possibly damaging Het
Slc6a2 A G 8: 93,722,653 (GRCm39) Y550C probably benign Het
Slc7a9 C A 7: 35,151,936 (GRCm39) T77K probably benign Het
Snd1 A T 6: 28,626,100 (GRCm39) D385V probably benign Het
Ssh3 A T 19: 4,314,448 (GRCm39) F369I probably damaging Het
Syk A G 13: 52,766,495 (GRCm39) probably null Het
Tbc1d16 A G 11: 119,099,742 (GRCm39) S211P probably damaging Het
Ttc3 A G 16: 94,244,312 (GRCm39) T1439A probably benign Het
Usp18 A G 6: 121,229,473 (GRCm39) M31V probably benign Het
Vav1 G T 17: 57,609,330 (GRCm39) E415D possibly damaging Het
Vps13a A T 19: 16,655,439 (GRCm39) V1863D probably benign Het
Xdh T A 17: 74,229,557 (GRCm39) I299F probably damaging Het
Zc3h14 A G 12: 98,737,336 (GRCm39) probably benign Het
Zfp345 G A 2: 150,315,331 (GRCm39) H69Y probably damaging Het
Zfp652 G T 11: 95,654,667 (GRCm39) V357L probably benign Het
Zfp712 A T 13: 67,188,891 (GRCm39) Y545* probably null Het
Zgrf1 T C 3: 127,353,281 (GRCm39) probably null 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
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
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'- GGGGACATCTGAAGTATGACTTTC -3'
(R):5'- TGAGGAGTGGAAATAAGTCACCTC -3'

Sequencing Primer
(F):5'- GGGCTAATTTCAGGACTG -3'
(R):5'- TGGAAATAAGTCACCTCTGAGC -3'
Posted On 2019-05-17