Incidental Mutation 'R1542:Slc2a7'
ID171800
Institutional Source Beutler Lab
Gene Symbol Slc2a7
Ensembl Gene ENSMUSG00000062064
Gene Namesolute carrier family 2 (facilitated glucose transporter), member 7
SynonymsOTTMUSG00000010396
MMRRC Submission 039581-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #R1542 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location150148972-150168482 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 150168471 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 523 (T523S)
Ref Sequence ENSEMBL: ENSMUSP00000059106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059893]
Predicted Effect probably damaging
Transcript: ENSMUST00000059893
AA Change: T523S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000059106
Gene: ENSMUSG00000062064
AA Change: T523S

DomainStartEndE-ValueType
Pfam:MFS_1 22 319 2e-15 PFAM
Pfam:Sugar_tr 26 494 7.6e-120 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC2A7 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Li et al., 2004). This family of transporters shows conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,414,406 M208T possibly damaging Het
Acsbg2 T A 17: 56,849,791 I416F probably damaging Het
Adam6b G A 12: 113,490,939 D459N possibly damaging Het
Adprh A T 16: 38,445,924 D285E probably damaging Het
Aggf1 A T 13: 95,370,942 C112S probably benign Het
Als2cl T C 9: 110,894,034 V602A probably benign Het
Angptl2 G T 2: 33,228,885 V224F probably benign Het
Ap3b2 A T 7: 81,478,077 probably null Het
Aqp2 A C 15: 99,583,842 I206L probably benign Het
Asap2 A G 12: 21,265,997 D930G probably damaging Het
Cacna1e T A 1: 154,477,779 M682L probably benign Het
Ccdc18 A G 5: 108,212,188 N1146S probably benign Het
Ccr4 G A 9: 114,492,005 H331Y probably benign Het
Cd33 A G 7: 43,532,106 L210P probably damaging Het
Cep85l T C 10: 53,301,584 E351G probably damaging Het
Cntn6 C A 6: 104,848,100 T867K probably damaging Het
Cpeb2 C T 5: 43,285,875 R970C probably damaging Het
Cul7 T A 17: 46,663,190 L1467H probably damaging Het
Dscaml1 T A 9: 45,749,440 I1693K possibly damaging Het
Ebf4 A T 2: 130,365,498 M621L probably benign Het
Elp4 G T 2: 105,794,609 T313N probably benign Het
Epas1 T A 17: 86,824,490 I373N possibly damaging Het
Etnk1 A T 6: 143,180,641 M71L probably benign Het
Fry C T 5: 150,404,966 T1257I probably benign Het
Gm21834 A G 17: 57,741,951 F90S possibly damaging Het
Gm8674 T A 13: 49,900,003 noncoding transcript Het
Gna11 T C 10: 81,533,328 T134A probably benign Het
Golga5 C T 12: 102,474,720 S238F probably damaging Het
Grin2a T A 16: 9,579,203 N1007Y probably damaging Het
Hist1h3e A G 13: 23,562,164 F68L probably damaging Het
Ifnar2 G A 16: 91,399,265 V253M possibly damaging Het
Insl5 A T 4: 103,018,185 S123T probably damaging Het
Itgb2 T C 10: 77,559,486 S474P probably benign Het
Kcnb2 A G 1: 15,710,788 H628R probably benign Het
L3mbtl2 G A 15: 81,682,151 D392N probably null Het
Lrp1b G T 2: 41,123,712 T1813K probably damaging Het
Map3k4 A G 17: 12,235,906 L1399P probably damaging Het
Mbtps1 A C 8: 119,546,247 probably null Het
Mettl25 A T 10: 105,826,120 S330T probably benign Het
Mical2 T C 7: 112,309,468 L211P probably damaging Het
Mmrn1 T A 6: 60,945,118 S186R probably damaging Het
Mob3b C A 4: 35,084,046 V48L possibly damaging Het
Mpp6 A G 6: 50,198,326 Y539C probably damaging Het
Napsa A T 7: 44,581,689 H114L probably damaging Het
Nsmce4a A T 7: 130,545,893 probably null Het
Nup62 A G 7: 44,829,929 K456R possibly damaging Het
Nwd2 T A 5: 63,806,975 W1301R probably damaging Het
Olfr1141 A G 2: 87,753,318 V225A probably damaging Het
Olfr118 A T 17: 37,672,251 E76V probably damaging Het
Olfr15 T A 16: 3,839,832 N286K probably damaging Het
Olfr364-ps1 T A 2: 37,146,966 S251R probably damaging Het
Oprm1 G T 10: 6,788,960 W29L probably damaging Het
Pcnt T G 10: 76,389,387 N1761T probably benign Het
Pcnt C T 10: 76,401,386 M1355I probably benign Het
Pde11a A T 2: 76,046,855 S757T probably benign Het
Pde6a T A 18: 61,257,045 I490N possibly damaging Het
Pgap1 A G 1: 54,492,090 V742A probably benign Het
Pik3c2b T C 1: 133,090,034 L915P probably damaging Het
Pkd1l1 A G 11: 8,874,179 C1129R possibly damaging Het
Pkhd1l1 A T 15: 44,528,191 H1551L probably benign Het
Plxnb2 C T 15: 89,165,921 C491Y probably damaging Het
Ppt1 C A 4: 122,857,609 H300N probably benign Het
Prpf3 T A 3: 95,836,470 Q457L probably benign Het
Ranbp17 C T 11: 33,264,672 V914I probably benign Het
Rasal2 T C 1: 157,175,851 I413V possibly damaging Het
Rb1cc1 G A 1: 6,244,249 V382I possibly damaging Het
Rere T A 4: 150,615,942 F1125I probably damaging Het
Rprd2 A T 3: 95,765,676 V805E possibly damaging Het
Sept10 T G 10: 59,166,606 E162A probably damaging Het
Sept12 G T 16: 4,992,295 D125E probably benign Het
Serpina6 A G 12: 103,654,473 Y6H probably benign Het
Serpinb3c T C 1: 107,272,787 M209V probably damaging Het
Smdt1 T C 15: 82,346,175 V31A possibly damaging Het
Snrnp48 T C 13: 38,220,704 I245T probably damaging Het
Spink2 G A 5: 77,206,965 T33I probably damaging Het
Sptan1 A G 2: 30,027,127 T2204A probably damaging Het
Synj2 A G 17: 6,025,017 D306G probably benign Het
Tas2r109 A G 6: 132,980,910 I19T possibly damaging Het
Tbk1 C T 10: 121,559,935 V418M probably benign Het
Tcerg1 A G 18: 42,553,430 E684G probably damaging Het
Tenm2 T C 11: 36,300,220 N308S probably damaging Het
Tfb2m A T 1: 179,537,861 probably null Het
Tmc1 T A 19: 20,816,122 L558F probably damaging Het
Tmprss5 T A 9: 49,109,134 I80N possibly damaging Het
Trappc2l G A 8: 122,615,407 V131M probably damaging Het
Trpm7 A C 2: 126,822,599 Y953* probably null Het
Ttn T C 2: 76,753,515 R22383G probably damaging Het
Ugt1a6b G A 1: 88,107,261 G107D probably benign Het
Vmn1r197 A T 13: 22,328,350 Y147F probably benign Het
Zfp507 A T 7: 35,794,801 N272K possibly damaging Het
Zfp526 G A 7: 25,226,262 E649K probably benign Het
Zswim6 G A 13: 107,727,234 noncoding transcript Het
Other mutations in Slc2a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Slc2a7 APN 4 150157564 missense probably damaging 1.00
IGL01990:Slc2a7 APN 4 150154684 missense possibly damaging 0.89
IGL02480:Slc2a7 APN 4 150160112 missense possibly damaging 0.93
IGL02607:Slc2a7 APN 4 150154705 missense probably benign
IGL02716:Slc2a7 APN 4 150160010 splice site probably benign
IGL02861:Slc2a7 APN 4 150168379 missense probably benign 0.16
IGL03343:Slc2a7 APN 4 150168340 missense probably damaging 1.00
R0116:Slc2a7 UTSW 4 150168264 missense probably benign 0.31
R0302:Slc2a7 UTSW 4 150149521 missense probably damaging 0.99
R0309:Slc2a7 UTSW 4 150158071 splice site probably benign
R0367:Slc2a7 UTSW 4 150166366 missense probably benign 0.03
R1485:Slc2a7 UTSW 4 150166396 missense probably damaging 1.00
R1544:Slc2a7 UTSW 4 150154686 missense probably damaging 1.00
R3973:Slc2a7 UTSW 4 150158210 splice site probably null
R4399:Slc2a7 UTSW 4 150158550 missense probably damaging 1.00
R4467:Slc2a7 UTSW 4 150163274 missense possibly damaging 0.95
R4712:Slc2a7 UTSW 4 150168469 missense probably benign 0.00
R5066:Slc2a7 UTSW 4 150160116 missense probably damaging 1.00
R5510:Slc2a7 UTSW 4 150160094 missense probably benign 0.00
R5995:Slc2a7 UTSW 4 150168340 missense probably damaging 1.00
R6017:Slc2a7 UTSW 4 150165172 missense probably damaging 0.99
R6062:Slc2a7 UTSW 4 150168427 missense probably benign
R6185:Slc2a7 UTSW 4 150148993 missense probably benign 0.00
R6730:Slc2a7 UTSW 4 150158148 missense probably damaging 1.00
R7753:Slc2a7 UTSW 4 150154684 missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- GCCATGAAGAAAGTCCCTGTGACTC -3'
(R):5'- TGTTTAGCCTTGAAGCCAACACCC -3'

Sequencing Primer
(F):5'- CAAAGGCACCAAGTGTATTGTCTG -3'
(R):5'- CTGCCAAGTAAACCGGGG -3'
Posted On2014-04-13