Incidental Mutation 'R6902:Slc2a6'
ID 538568
Institutional Source Beutler Lab
Gene Symbol Slc2a6
Ensembl Gene ENSMUSG00000036067
Gene Name solute carrier family 2 (facilitated glucose transporter), member 6
Synonyms Glut6, F630103L12Rik
MMRRC Submission 045032-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R6902 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 26911375-26918010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 26913172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 374 (V374M)
Ref Sequence ENSEMBL: ENSMUSP00000049103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045702] [ENSMUST00000102890] [ENSMUST00000114003] [ENSMUST00000114006] [ENSMUST00000114007] [ENSMUST00000153388]
AlphaFold Q3UDF0
Predicted Effect probably benign
Transcript: ENSMUST00000045702
AA Change: V374M

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000049103
Gene: ENSMUSG00000036067
AA Change: V374M

DomainStartEndE-ValueType
Pfam:MFS_1 37 439 4.1e-25 PFAM
Pfam:Sugar_tr 39 488 8.4e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102890
SMART Domains Protein: ENSMUSP00000099954
Gene: ENSMUSG00000036067

DomainStartEndE-ValueType
Pfam:MFS_1 37 382 5.3e-22 PFAM
Pfam:Sugar_tr 39 341 3.4e-61 PFAM
Pfam:Sugar_tr 337 434 1.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114003
SMART Domains Protein: ENSMUSP00000109636
Gene: ENSMUSG00000015488

DomainStartEndE-ValueType
Cg6151-P 1 80 6.19e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114006
SMART Domains Protein: ENSMUSP00000109639
Gene: ENSMUSG00000015488

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
Cg6151-P 33 142 2.87e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114007
SMART Domains Protein: ENSMUSP00000109640
Gene: ENSMUSG00000015488

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
Cg6151-P 33 142 2.87e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153388
SMART Domains Protein: ENSMUSP00000122054
Gene: ENSMUSG00000036067

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.6%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hexose transport into mammalian cells is catalyzed by a family of membrane proteins, including SLC2A6, that contain 12 transmembrane domains and a number of critical conserved residues.[supplied by OMIM, Jul 2002]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik C G 13: 119,624,680 (GRCm39) probably benign Het
Abcc9 T A 6: 142,624,953 (GRCm39) S481C probably damaging Het
Adgrl3 C A 5: 81,837,434 (GRCm39) S773R probably damaging Het
Alkbh5 G A 11: 60,429,381 (GRCm39) A45T probably benign Het
Ankrd6 C A 4: 32,806,419 (GRCm39) Q576H probably damaging Het
Ankrd6 T A 4: 32,806,420 (GRCm39) Q576L probably damaging Het
Carmil1 T C 13: 24,299,528 (GRCm39) N332S possibly damaging Het
Cc2d2b A G 19: 40,804,733 (GRCm39) Q1250R possibly damaging Het
Chd9 A C 8: 91,769,579 (GRCm39) N2539T probably damaging Het
Clec4b2 C T 6: 123,177,987 (GRCm39) Q101* probably null Het
Clstn2 A T 9: 97,351,875 (GRCm39) F517I probably damaging Het
Cog2 A G 8: 125,273,430 (GRCm39) K590E probably damaging Het
Coq9 G A 8: 95,577,180 (GRCm39) E182K probably benign Het
Fcgbpl1 C T 7: 27,836,638 (GRCm39) R186C probably damaging Het
Focad C T 4: 88,148,713 (GRCm39) R477C unknown Het
Gja10 G T 4: 32,601,905 (GRCm39) H160N probably damaging Het
Gpr132 T A 12: 112,815,830 (GRCm39) Y332F probably benign Het
Herc2 A G 7: 55,785,234 (GRCm39) T1495A probably benign Het
Hivep3 T A 4: 119,953,192 (GRCm39) S503T possibly damaging Het
Ifi44 A T 3: 151,451,536 (GRCm39) I190N possibly damaging Het
Igf1r T A 7: 67,653,911 (GRCm39) C150S probably damaging Het
Ighv1-42 T A 12: 114,901,155 (GRCm39) N4Y possibly damaging Het
Klra9 T A 6: 130,156,003 (GRCm39) I251F probably benign Het
Krt79 T C 15: 101,840,314 (GRCm39) N294S probably benign Het
Lama2 T G 10: 26,857,625 (GRCm39) T3075P probably damaging Het
Lrfn1 T G 7: 28,159,238 (GRCm39) C386G probably benign Het
Lrp2 T C 2: 69,289,847 (GRCm39) D3664G probably damaging Het
Mfsd3 T A 15: 76,587,349 (GRCm39) M344K probably damaging Het
Mier2 C A 10: 79,376,673 (GRCm39) probably benign Het
Mmp2 G A 8: 93,563,545 (GRCm39) V340M probably damaging Het
Mrgprb3 T A 7: 48,293,447 (GRCm39) I35F probably benign Het
Myo5b A T 18: 74,809,756 (GRCm39) I613F possibly damaging Het
Nicol1 G A 5: 34,140,923 (GRCm39) probably benign Het
Or14c43 T A 7: 86,114,995 (GRCm39) C125* probably null Het
Or51f1e A T 7: 102,747,562 (GRCm39) I205F probably benign Het
Or7d11 A T 9: 19,966,670 (GRCm39) L30M possibly damaging Het
Or8g30 C A 9: 39,230,315 (GRCm39) L198F probably damaging Het
Pan2 A G 10: 128,151,506 (GRCm39) T867A probably benign Het
Papolb T A 5: 142,513,906 (GRCm39) H579L probably benign Het
Pcf11 C A 7: 92,307,507 (GRCm39) G887V probably damaging Het
Pdzd8 A G 19: 59,289,829 (GRCm39) S524P possibly damaging Het
Pole3 T C 4: 62,442,300 (GRCm39) probably benign Het
Prdm14 C T 1: 13,192,645 (GRCm39) V365I probably benign Het
Shank1 T A 7: 44,006,239 (GRCm39) F1985L probably benign Het
Slc13a1 T C 6: 24,097,665 (GRCm39) I421V possibly damaging Het
Spata1 A T 3: 146,181,078 (GRCm39) N293K possibly damaging Het
Stk40 T A 4: 126,031,605 (GRCm39) D366E probably benign Het
Tas2r117 T C 6: 132,780,288 (GRCm39) L142S probably damaging Het
Tomm70a T C 16: 56,958,444 (GRCm39) S266P probably damaging Het
Trgv1 T C 13: 19,524,190 (GRCm39) L2P probably benign Het
Vipr2 A T 12: 116,102,819 (GRCm39) T310S possibly damaging Het
Vti1a A T 19: 55,487,673 (GRCm39) probably null Het
Zfp961 A G 8: 72,722,522 (GRCm39) K345R probably damaging Het
Other mutations in Slc2a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01788:Slc2a6 APN 2 26,914,227 (GRCm39) nonsense probably null
IGL02892:Slc2a6 APN 2 26,914,305 (GRCm39) missense probably benign 0.08
English UTSW 2 26,913,143 (GRCm39) nonsense probably null
R6368:Slc2a6 UTSW 2 26,914,599 (GRCm39) missense possibly damaging 0.69
R6501:Slc2a6 UTSW 2 26,913,143 (GRCm39) nonsense probably null
R6944:Slc2a6 UTSW 2 26,916,076 (GRCm39) missense probably damaging 1.00
R6993:Slc2a6 UTSW 2 26,917,255 (GRCm39) missense probably damaging 1.00
R6999:Slc2a6 UTSW 2 26,916,047 (GRCm39) frame shift probably null
R7597:Slc2a6 UTSW 2 26,917,195 (GRCm39) missense possibly damaging 0.91
R7629:Slc2a6 UTSW 2 26,914,214 (GRCm39) missense probably benign 0.00
R8195:Slc2a6 UTSW 2 26,917,838 (GRCm39) missense probably benign
R8469:Slc2a6 UTSW 2 26,914,347 (GRCm39) missense probably benign 0.05
R9139:Slc2a6 UTSW 2 26,914,334 (GRCm39) missense possibly damaging 0.93
Z1088:Slc2a6 UTSW 2 26,911,999 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGGTCCTATTGTCCAACTCC -3'
(R):5'- TCAATGGTGTGGCAGGAGAC -3'

Sequencing Primer
(F):5'- CCCAACTCTTTAGGCTACCCAGG -3'
(R):5'- AGACCGTGAGCTTGCCCTTC -3'
Posted On 2018-11-06