Incidental Mutation 'R4467:Slc2a7'
ID 329226
Institutional Source Beutler Lab
Gene Symbol Slc2a7
Ensembl Gene ENSMUSG00000062064
Gene Name solute carrier family 2 (facilitated glucose transporter), member 7
Synonyms OTTMUSG00000010396
MMRRC Submission 041724-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R4467 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 150233429-150252939 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 150247731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 377 (V377A)
Ref Sequence ENSEMBL: ENSMUSP00000059106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059893]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000059893
AA Change: V377A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000059106
Gene: ENSMUSG00000062064
AA Change: V377A

DomainStartEndE-ValueType
Pfam:MFS_1 22 319 2e-15 PFAM
Pfam:Sugar_tr 26 494 7.6e-120 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133379
Meta Mutation Damage Score 0.1229 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 98% (52/53)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Atg4a-ps A G 3: 103,553,171 (GRCm39) Y57H probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bms1 G A 6: 118,360,808 (GRCm39) T1220I probably damaging Het
Brat1 T C 5: 140,690,826 (GRCm39) probably benign Het
Cds2 T A 2: 132,136,366 (GRCm39) Y39* probably null Het
Chrnd T A 1: 87,125,099 (GRCm39) L384Q probably damaging Het
Cpa3 A T 3: 20,282,981 (GRCm39) Y155* probably null Het
Crlf1 G A 8: 70,953,606 (GRCm39) W260* probably null Het
Cux1 C G 5: 136,341,576 (GRCm39) E605D probably damaging Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Dmtf1 T C 5: 9,186,085 (GRCm39) N167S probably damaging Het
Dnaaf9 A G 2: 130,609,567 (GRCm39) I372T probably damaging Het
Dnai7 A T 6: 145,128,944 (GRCm39) probably null Het
Dtx2 T A 5: 136,040,930 (GRCm39) W112R probably damaging Het
Elf3 A G 1: 135,184,582 (GRCm39) I138T probably damaging Het
F11 T A 8: 45,694,511 (GRCm39) I617F probably damaging Het
Fdps A T 3: 89,008,093 (GRCm39) D8E possibly damaging Het
Fzd10 C A 5: 128,678,340 (GRCm39) T20K probably benign Het
Gm9978 T A 10: 78,322,750 (GRCm39) noncoding transcript Het
Gpr158 T A 2: 21,831,810 (GRCm39) M970K probably damaging Het
Has1 C T 17: 18,064,257 (GRCm39) V461M probably benign Het
Hdac3 C T 18: 38,085,566 (GRCm39) G80D probably benign Het
Klk12 A T 7: 43,422,807 (GRCm39) R245W probably damaging Het
Lamp5 A G 2: 135,900,940 (GRCm39) I47V probably damaging Het
Or6c1b T C 10: 129,272,933 (GRCm39) I84T probably benign Het
Ovgp1 A G 3: 105,885,027 (GRCm39) D122G probably benign Het
Piezo1 T C 8: 123,213,135 (GRCm39) E1875G probably benign Het
Pih1d1 A G 7: 44,807,921 (GRCm39) M132V possibly damaging Het
Pon2 C T 6: 5,267,021 (GRCm39) A241T probably benign Het
Prkce A G 17: 86,927,339 (GRCm39) I538V possibly damaging Het
Rab36 C T 10: 74,887,875 (GRCm39) R249* probably null Het
Rps6kl1 C T 12: 85,194,582 (GRCm39) A110T probably damaging Het
Rsad1 T C 11: 94,435,356 (GRCm39) T244A probably benign Het
Slc22a7 T C 17: 46,743,436 (GRCm39) I532V probably benign Het
Slx4 A G 16: 3,806,919 (GRCm39) V508A possibly damaging Het
Stag2 A G X: 41,322,749 (GRCm39) S400G probably benign Het
Stat6 T G 10: 127,487,097 (GRCm39) I201M probably damaging Het
Stim2 T C 5: 54,273,536 (GRCm39) probably null Het
Tbc1d9 A G 8: 83,937,107 (GRCm39) Y63C probably damaging Het
Tctn2 T C 5: 124,758,252 (GRCm39) noncoding transcript Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Ubr5 T A 15: 38,004,580 (GRCm39) T1282S probably damaging Het
Ufl1 A T 4: 25,254,806 (GRCm39) I550N probably damaging Het
Uty A G Y: 1,158,372 (GRCm39) V557A possibly damaging Het
Vmn1r54 T C 6: 90,246,253 (GRCm39) S56P probably damaging Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S probably benign Het
Other mutations in Slc2a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Slc2a7 APN 4 150,242,021 (GRCm39) missense probably damaging 1.00
IGL01990:Slc2a7 APN 4 150,239,141 (GRCm39) missense possibly damaging 0.89
IGL02480:Slc2a7 APN 4 150,244,569 (GRCm39) missense possibly damaging 0.93
IGL02607:Slc2a7 APN 4 150,239,162 (GRCm39) missense probably benign
IGL02716:Slc2a7 APN 4 150,244,467 (GRCm39) splice site probably benign
IGL02861:Slc2a7 APN 4 150,252,836 (GRCm39) missense probably benign 0.16
IGL03343:Slc2a7 APN 4 150,252,797 (GRCm39) missense probably damaging 1.00
anhedonic UTSW 4 150,243,015 (GRCm39) nonsense probably null
Anorectic UTSW 4 150,242,667 (GRCm39) splice site probably null
paunch UTSW 4 150,242,605 (GRCm39) missense probably damaging 1.00
tablemuscle UTSW 4 150,252,797 (GRCm39) missense probably damaging 1.00
R0116:Slc2a7 UTSW 4 150,252,721 (GRCm39) missense probably benign 0.31
R0302:Slc2a7 UTSW 4 150,233,978 (GRCm39) missense probably damaging 0.99
R0309:Slc2a7 UTSW 4 150,242,528 (GRCm39) splice site probably benign
R0367:Slc2a7 UTSW 4 150,250,823 (GRCm39) missense probably benign 0.03
R1485:Slc2a7 UTSW 4 150,250,853 (GRCm39) missense probably damaging 1.00
R1542:Slc2a7 UTSW 4 150,252,928 (GRCm39) missense probably damaging 1.00
R1544:Slc2a7 UTSW 4 150,239,143 (GRCm39) missense probably damaging 1.00
R3973:Slc2a7 UTSW 4 150,242,667 (GRCm39) splice site probably null
R4399:Slc2a7 UTSW 4 150,243,007 (GRCm39) missense probably damaging 1.00
R4712:Slc2a7 UTSW 4 150,252,926 (GRCm39) missense probably benign 0.00
R5066:Slc2a7 UTSW 4 150,244,573 (GRCm39) missense probably damaging 1.00
R5510:Slc2a7 UTSW 4 150,244,551 (GRCm39) missense probably benign 0.00
R5995:Slc2a7 UTSW 4 150,252,797 (GRCm39) missense probably damaging 1.00
R6017:Slc2a7 UTSW 4 150,249,629 (GRCm39) missense probably damaging 0.99
R6062:Slc2a7 UTSW 4 150,252,884 (GRCm39) missense probably benign
R6185:Slc2a7 UTSW 4 150,233,450 (GRCm39) missense probably benign 0.00
R6730:Slc2a7 UTSW 4 150,242,605 (GRCm39) missense probably damaging 1.00
R7753:Slc2a7 UTSW 4 150,239,141 (GRCm39) missense possibly damaging 0.89
R8145:Slc2a7 UTSW 4 150,252,818 (GRCm39) missense probably damaging 1.00
R8203:Slc2a7 UTSW 4 150,243,015 (GRCm39) nonsense probably null
R8512:Slc2a7 UTSW 4 150,247,752 (GRCm39) missense probably benign 0.23
R9066:Slc2a7 UTSW 4 150,250,872 (GRCm39) missense probably damaging 1.00
R9074:Slc2a7 UTSW 4 150,242,625 (GRCm39) missense probably benign 0.44
R9129:Slc2a7 UTSW 4 150,243,001 (GRCm39) missense probably benign 0.31
R9773:Slc2a7 UTSW 4 150,234,044 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- CCCAAGGGTCTGTAAATGACAAAG -3'
(R):5'- GGGACAAGACTGTGTTTGTAAATCAG -3'

Sequencing Primer
(F):5'- GGTCTGTAAATGACAAAGACTGTAG -3'
(R):5'- GTCTACATCAAGTGGATCACAGCTG -3'
Posted On 2015-07-21