Incidental Mutation 'R5784:Slc2a3'
ID 447915
Institutional Source Beutler Lab
Gene Symbol Slc2a3
Ensembl Gene ENSMUSG00000003153
Gene Name solute carrier family 2 (facilitated glucose transporter), member 3
Synonyms Glut-3, Glut3
MMRRC Submission 043381-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5784 (G1)
Quality Score 216
Status Validated
Chromosome 6
Chromosomal Location 122704768-122778599 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to T at 122712376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032476] [ENSMUST00000165884] [ENSMUST00000166135] [ENSMUST00000168801] [ENSMUST00000170724] [ENSMUST00000171541]
AlphaFold P32037
Predicted Effect probably null
Transcript: ENSMUST00000032476
SMART Domains Protein: ENSMUSP00000032476
Gene: ENSMUSG00000003153

DomainStartEndE-ValueType
Pfam:Sugar_tr 13 465 5.9e-165 PFAM
Pfam:MFS_1 16 385 7.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165884
SMART Domains Protein: ENSMUSP00000129925
Gene: ENSMUSG00000003153

DomainStartEndE-ValueType
Pfam:MFS_1 13 163 3.6e-12 PFAM
Pfam:Sugar_tr 15 163 6.9e-49 PFAM
Pfam:MFS_2 43 148 1.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166135
SMART Domains Protein: ENSMUSP00000132586
Gene: ENSMUSG00000003153

DomainStartEndE-ValueType
Pfam:Sugar_tr 13 63 9.8e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168704
Predicted Effect probably benign
Transcript: ENSMUST00000168801
SMART Domains Protein: ENSMUSP00000129604
Gene: ENSMUSG00000003153

DomainStartEndE-ValueType
Pfam:Sugar_tr 13 70 1.8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169979
Predicted Effect probably benign
Transcript: ENSMUST00000170724
SMART Domains Protein: ENSMUSP00000128076
Gene: ENSMUSG00000003153

DomainStartEndE-ValueType
Pfam:Sugar_tr 13 89 5.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171541
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (51/52)
MGI Phenotype PHENOTYPE: Homozygous null mutations cause embryonic lethality. Heterozygotes for a null allele show partial perinatal lethality and impaired placental transport. Heterozygotes for a gene trap allele show abnormal brain wave patterns, increased startle reflex, reduced prepulse inhibition and increased anxiety. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,441 (GRCm39) R292G possibly damaging Het
4932416K20Rik T A 8: 105,524,261 (GRCm39) noncoding transcript Het
Aox3 A G 1: 58,192,658 (GRCm39) D544G probably benign Het
Atg2a C A 19: 6,311,535 (GRCm39) A1830D probably damaging Het
Casp1 T C 9: 5,299,337 (GRCm39) I22T probably damaging Het
Ccdc141 A C 2: 76,859,671 (GRCm39) L990W probably damaging Het
Cnbd2 A G 2: 156,180,577 (GRCm39) T125A probably damaging Het
Cnep1r1 T A 8: 88,857,354 (GRCm39) probably benign Het
Dhx38 G T 8: 110,286,245 (GRCm39) Y348* probably null Het
Dnah7c A T 1: 46,563,228 (GRCm39) I593L possibly damaging Het
Dpep3 T C 8: 106,705,375 (GRCm39) D125G probably benign Het
Eif1ad10 T A 12: 88,216,525 (GRCm39) N116Y probably damaging Het
Epb41l4b A C 4: 57,086,003 (GRCm39) S191A probably damaging Het
Etl4 A G 2: 20,811,016 (GRCm39) Y1033C possibly damaging Het
Fam193a T C 5: 34,623,567 (GRCm39) L32P probably damaging Het
Grin2c T C 11: 115,149,121 (GRCm39) E159G possibly damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hdhd2 A T 18: 77,054,841 (GRCm39) D205V probably damaging Het
Helz T A 11: 107,561,307 (GRCm39) N774K unknown Het
Idh3b A G 2: 130,121,591 (GRCm39) V71A probably damaging Het
Lars1 T C 18: 42,352,964 (GRCm39) M818V probably benign Het
Ltbp2 A G 12: 84,915,513 (GRCm39) V162A probably damaging Het
Ltk G A 2: 119,584,840 (GRCm39) Q136* probably null Het
Mafb A T 2: 160,208,461 (GRCm39) C46S probably damaging Het
Map1s T C 8: 71,367,002 (GRCm39) S636P probably damaging Het
Map3k13 A G 16: 21,717,391 (GRCm39) K209E possibly damaging Het
Mppe1 T C 18: 67,361,098 (GRCm39) N220D probably benign Het
Mydgf T C 17: 56,485,254 (GRCm39) probably benign Het
Myh6 T C 14: 55,190,521 (GRCm39) K999E possibly damaging Het
Nemp1 T A 10: 127,513,067 (GRCm39) V34D possibly damaging Het
Npr2 A G 4: 43,632,801 (GRCm39) E206G probably benign Het
Or10x4 G A 1: 174,218,965 (GRCm39) C110Y probably damaging Het
Or13g1 T C 7: 85,955,743 (GRCm39) N193D probably damaging Het
Or9q2 A T 19: 13,772,710 (GRCm39) H88Q probably benign Het
Papln A G 12: 83,828,754 (GRCm39) N820S probably benign Het
Pcdh10 T G 3: 45,335,075 (GRCm39) F463C probably damaging Het
Pde7a A G 3: 19,319,009 (GRCm39) V12A probably benign Het
Radil G T 5: 142,473,268 (GRCm39) H804Q possibly damaging Het
Rbfox1 A T 16: 7,042,203 (GRCm39) D39V probably damaging Het
Rims2 T G 15: 39,399,383 (GRCm39) probably null Het
Rnf121 A G 7: 101,684,583 (GRCm39) F110S probably benign Het
Saxo2 C T 7: 82,284,082 (GRCm39) V259I probably benign Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Traf2 A T 2: 25,429,049 (GRCm39) V6E probably benign Het
Trim43c A T 9: 88,729,696 (GRCm39) N379I probably benign Het
Ubr4 C G 4: 139,152,529 (GRCm39) C1973W probably damaging Het
Unc13a G T 8: 72,108,310 (GRCm39) D514E possibly damaging Het
Wdr27 T A 17: 15,146,495 (GRCm39) T167S probably damaging Het
Zfp174 A T 16: 3,672,438 (GRCm39) E329V probably benign Het
Zfp422 A T 6: 116,603,771 (GRCm39) I76N probably damaging Het
Other mutations in Slc2a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01661:Slc2a3 APN 6 122,706,915 (GRCm39) missense probably benign
IGL02056:Slc2a3 APN 6 122,712,437 (GRCm39) missense probably damaging 0.99
IGL02267:Slc2a3 APN 6 122,716,931 (GRCm39) missense probably benign 0.00
IGL02873:Slc2a3 APN 6 122,717,373 (GRCm39) missense probably damaging 0.98
IGL03275:Slc2a3 APN 6 122,713,701 (GRCm39) critical splice acceptor site probably null
R1014:Slc2a3 UTSW 6 122,708,525 (GRCm39) missense possibly damaging 0.77
R1464:Slc2a3 UTSW 6 122,714,269 (GRCm39) splice site probably benign
R1920:Slc2a3 UTSW 6 122,713,700 (GRCm39) missense probably damaging 0.99
R1990:Slc2a3 UTSW 6 122,713,694 (GRCm39) missense probably damaging 1.00
R3809:Slc2a3 UTSW 6 122,709,388 (GRCm39) missense probably benign 0.03
R4094:Slc2a3 UTSW 6 122,712,527 (GRCm39) missense probably benign 0.23
R4537:Slc2a3 UTSW 6 122,714,063 (GRCm39) missense probably damaging 1.00
R5093:Slc2a3 UTSW 6 122,714,196 (GRCm39) missense probably damaging 0.99
R5186:Slc2a3 UTSW 6 122,712,542 (GRCm39) missense probably damaging 1.00
R9087:Slc2a3 UTSW 6 122,717,408 (GRCm39) missense probably benign 0.35
R9403:Slc2a3 UTSW 6 122,713,569 (GRCm39) missense probably damaging 1.00
R9636:Slc2a3 UTSW 6 122,709,362 (GRCm39) missense probably damaging 0.98
R9639:Slc2a3 UTSW 6 122,714,199 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGAAGCTTTTCAAACTAACAGATTC -3'
(R):5'- ACGTGGTCCAGGAGATCCAG -3'

Sequencing Primer
(F):5'- TACCAAAGGGCTTCATGTGC -3'
(R):5'- TCCAGGAGATCCAGGAGATG -3'
Posted On 2016-12-15