Incidental Mutation 'R2257:Slc2a9'
ID 243437
Institutional Source Beutler Lab
Gene Symbol Slc2a9
Ensembl Gene ENSMUSG00000005107
Gene Name solute carrier family 2 (facilitated glucose transporter), member 9
Synonyms Glut9, SLC2A9B, SLC2a9A
MMRRC Submission 040257-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R2257 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 38506616-38660486 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38610542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 86 (T86A)
Ref Sequence ENSEMBL: ENSMUSP00000117390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005238] [ENSMUST00000067872] [ENSMUST00000067886] [ENSMUST00000122970] [ENSMUST00000129099] [ENSMUST00000143758] [ENSMUST00000147664] [ENSMUST00000155634] [ENSMUST00000156272]
AlphaFold Q3T9X0
Predicted Effect unknown
Transcript: ENSMUST00000005238
AA Change: T71A
SMART Domains Protein: ENSMUSP00000005238
Gene: ENSMUSG00000005107
AA Change: T71A

DomainStartEndE-ValueType
Pfam:MFS_1 20 208 3.5e-10 PFAM
Pfam:Sugar_tr 25 188 1.1e-35 PFAM
Pfam:Sugar_tr 191 373 5.3e-39 PFAM
Pfam:MFS_1 196 397 1.2e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000067872
AA Change: T71A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066872
Gene: ENSMUSG00000005107
AA Change: T71A

DomainStartEndE-ValueType
Pfam:MFS_1 22 329 2.2e-16 PFAM
Pfam:Sugar_tr 25 480 2.5e-103 PFAM
Pfam:MFS_1 321 502 3.3e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000067886
AA Change: T86A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000063352
Gene: ENSMUSG00000005107
AA Change: T86A

DomainStartEndE-ValueType
Pfam:MFS_1 37 344 1.7e-16 PFAM
Pfam:Sugar_tr 40 495 9.8e-107 PFAM
Pfam:MFS_1 328 518 1.3e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122970
AA Change: T86A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117390
Gene: ENSMUSG00000005107
AA Change: T86A

DomainStartEndE-ValueType
Pfam:MFS_1 28 269 7.5e-14 PFAM
Pfam:Sugar_tr 40 260 2e-48 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000129099
AA Change: T71A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122723
Gene: ENSMUSG00000005107
AA Change: T71A

DomainStartEndE-ValueType
Pfam:MFS_1 22 329 2.2e-16 PFAM
Pfam:Sugar_tr 25 480 2.5e-103 PFAM
Pfam:MFS_1 321 502 3.3e-10 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000143758
AA Change: T86A
SMART Domains Protein: ENSMUSP00000118430
Gene: ENSMUSG00000005107
AA Change: T86A

DomainStartEndE-ValueType
Pfam:MFS_1 37 223 4.2e-10 PFAM
Pfam:Sugar_tr 40 203 1.2e-35 PFAM
Pfam:Sugar_tr 206 388 5.8e-39 PFAM
Pfam:MFS_1 209 411 2.2e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000147664
AA Change: T71A

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119586
Gene: ENSMUSG00000005107
AA Change: T71A

DomainStartEndE-ValueType
Pfam:Sugar_tr 25 143 9.8e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000155634
AA Change: T71A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116354
Gene: ENSMUSG00000005107
AA Change: T71A

DomainStartEndE-ValueType
Pfam:MFS_1 22 329 2.2e-16 PFAM
Pfam:Sugar_tr 25 480 2.5e-103 PFAM
Pfam:MFS_1 321 502 3.3e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000156272
AA Change: T86A

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144374
Gene: ENSMUSG00000005107
AA Change: T86A

DomainStartEndE-ValueType
Pfam:Sugar_tr 40 111 4.5e-9 PFAM
transmembrane domain 140 157 N/A INTRINSIC
Meta Mutation Damage Score 0.3302 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 96% (70/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show partial prenatal lethality, polydipsia, hyperuricemia, hyperuricosuria and polyuria, and develop urate nephropathy, characterized by obstructive lithiasis, tubulointerstitial inflammation, cortical fibrosis, renal insufficiency and reduced male weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik A T X: 69,438,012 (GRCm39) W94R probably damaging Het
Abcc3 C T 11: 94,254,420 (GRCm39) V693M probably damaging Het
Acp7 A C 7: 28,313,838 (GRCm39) W399G probably damaging Het
Ap1s1 T C 5: 137,070,633 (GRCm39) Y94C possibly damaging Het
Arhgap32 T C 9: 32,158,793 (GRCm39) I186T probably damaging Het
Atg4a A G X: 139,890,984 (GRCm39) I91V probably benign Het
Atp7b T G 8: 22,488,282 (GRCm39) T1102P probably damaging Het
Cabs1 T C 5: 88,128,074 (GRCm39) S242P probably damaging Het
Cass4 T C 2: 172,269,390 (GRCm39) F493L probably damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cdk14 T A 5: 4,938,924 (GRCm39) M433L probably benign Het
Cep162 C A 9: 87,088,967 (GRCm39) D972Y probably damaging Het
Cfap100 C G 6: 90,390,802 (GRCm39) R184P possibly damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Clasrp A G 7: 19,320,510 (GRCm39) probably benign Het
Copb1 T A 7: 113,853,110 (GRCm39) D29V possibly damaging Het
Cyp2b9 G A 7: 25,873,030 (GRCm39) probably null Het
Dhx36 C T 3: 62,385,064 (GRCm39) G683S probably damaging Het
Dnaaf11 T A 15: 66,309,436 (GRCm39) probably benign Het
Dnah10 T A 5: 124,838,301 (GRCm39) I1110N probably damaging Het
Dnajc3 C G 14: 119,210,114 (GRCm39) P322A probably benign Het
Eml4 A G 17: 83,785,189 (GRCm39) T785A probably damaging Het
Fam228a T C 12: 4,787,775 (GRCm39) probably benign Het
Fam83e A T 7: 45,378,193 (GRCm39) K406* probably null Het
Fam83e A T 7: 45,378,194 (GRCm39) K406M possibly damaging Het
Fam90a1a T A 8: 22,453,533 (GRCm39) L296Q possibly damaging Het
Fat1 A G 8: 45,403,408 (GRCm39) Y53C probably damaging Het
Fcrl2 T C 3: 87,166,928 (GRCm39) I22V probably damaging Het
Fryl T A 5: 73,230,187 (GRCm39) N1657Y possibly damaging Het
Greb1l A G 18: 10,503,307 (GRCm39) M453V possibly damaging Het
Grm8 A T 6: 27,760,224 (GRCm39) C369S probably damaging Het
Hdc G A 2: 126,458,000 (GRCm39) probably null Het
Hsf3 A T X: 95,363,928 (GRCm39) L191* probably null Het
Iqca1l C T 5: 24,757,038 (GRCm39) probably benign Het
Kif4 A T X: 99,769,737 (GRCm39) N1126Y probably benign Het
Lat2 T C 5: 134,631,481 (GRCm39) D191G probably damaging Het
Lipt2 C T 7: 99,808,601 (GRCm39) T38I probably benign Het
Lmo7 T C 14: 102,137,566 (GRCm39) L634P probably damaging Het
Magea2 A T X: 153,810,855 (GRCm39) L243Q probably damaging Het
Mctp2 A G 7: 71,835,568 (GRCm39) L543P probably damaging Het
Mgat4a T C 1: 37,529,394 (GRCm39) N24D probably benign Het
Mical3 A T 6: 121,010,696 (GRCm39) S429T possibly damaging Het
Mrps35 A G 6: 146,972,125 (GRCm39) E256G possibly damaging Het
Mybbp1a T A 11: 72,337,021 (GRCm39) S586T probably benign Het
Myo1e G A 9: 70,285,655 (GRCm39) probably null Het
Nob1 A G 8: 108,143,729 (GRCm39) probably benign Het
Nom1 T A 5: 29,642,750 (GRCm39) V417D probably damaging Het
Nphs1 A T 7: 30,167,417 (GRCm39) I782F possibly damaging Het
Numa1 A G 7: 101,649,998 (GRCm39) E1243G probably damaging Het
Or52e7 A G 7: 104,685,026 (GRCm39) Y207C probably benign Het
Or7g27 A G 9: 19,249,789 (GRCm39) E11G probably benign Het
Padi4 G A 4: 140,487,251 (GRCm39) T217I possibly damaging Het
Pias3 C T 3: 96,606,962 (GRCm39) T75I probably benign Het
Ppp1r37 G T 7: 19,295,943 (GRCm39) probably benign Het
Prrc2a G A 17: 35,380,044 (GRCm39) P185L unknown Het
Prss57 C T 10: 79,623,204 (GRCm39) C81Y probably damaging Het
Psen1 C T 12: 83,761,594 (GRCm39) S132L probably damaging Het
Ranbp6 A G 19: 29,788,949 (GRCm39) S468P possibly damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slco1a6 A T 6: 142,036,742 (GRCm39) M555K probably benign Het
Thoc1 C A 18: 9,993,466 (GRCm39) D608E possibly damaging Het
Tmem121b A T 6: 120,469,030 (GRCm39) Y562* probably null Het
Tmem121b A G 6: 120,469,032 (GRCm39) Y562H probably damaging Het
Tmprss7 A T 16: 45,506,696 (GRCm39) M122K possibly damaging Het
Tmub1 C A 5: 24,651,922 (GRCm39) G14V possibly damaging Het
Uap1 A T 1: 169,986,312 (GRCm39) probably benign Het
Ugdh A T 5: 65,574,458 (GRCm39) probably benign Het
Vmn2r59 A T 7: 41,661,669 (GRCm39) C715* probably null Het
Vps13a G A 19: 16,659,538 (GRCm39) T1663I possibly damaging Het
Vps13c A C 9: 67,860,228 (GRCm39) I2815L possibly damaging Het
Zc3h3 G T 15: 75,711,415 (GRCm39) Q349K possibly damaging Het
Other mutations in Slc2a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02232:Slc2a9 APN 5 38,594,013 (GRCm39) missense probably benign 0.19
IGL02505:Slc2a9 APN 5 38,594,002 (GRCm39) missense possibly damaging 0.69
IGL03096:Slc2a9 APN 5 38,508,572 (GRCm39) missense probably damaging 1.00
transporter9 UTSW 5 38,539,387 (GRCm39) missense probably damaging 1.00
R0121:Slc2a9 UTSW 5 38,556,086 (GRCm39) missense probably benign 0.00
R0395:Slc2a9 UTSW 5 38,610,512 (GRCm39) missense probably damaging 1.00
R0599:Slc2a9 UTSW 5 38,637,487 (GRCm39) start gained probably benign
R0610:Slc2a9 UTSW 5 38,537,285 (GRCm39) missense probably damaging 1.00
R0993:Slc2a9 UTSW 5 38,539,406 (GRCm39) missense probably damaging 1.00
R1166:Slc2a9 UTSW 5 38,539,384 (GRCm39) critical splice donor site probably null
R1710:Slc2a9 UTSW 5 38,539,387 (GRCm39) missense probably damaging 1.00
R2256:Slc2a9 UTSW 5 38,610,542 (GRCm39) missense probably damaging 0.96
R4066:Slc2a9 UTSW 5 38,640,692 (GRCm39) missense probably benign 0.03
R4193:Slc2a9 UTSW 5 38,556,049 (GRCm39) missense probably damaging 1.00
R4502:Slc2a9 UTSW 5 38,556,154 (GRCm39) missense probably benign 0.04
R4734:Slc2a9 UTSW 5 38,539,442 (GRCm39) missense probably damaging 1.00
R4917:Slc2a9 UTSW 5 38,574,603 (GRCm39) missense probably benign 0.01
R5218:Slc2a9 UTSW 5 38,610,524 (GRCm39) missense probably damaging 1.00
R5885:Slc2a9 UTSW 5 38,598,017 (GRCm39) missense probably damaging 1.00
R6313:Slc2a9 UTSW 5 38,610,464 (GRCm39) missense probably benign 0.03
R6983:Slc2a9 UTSW 5 38,549,064 (GRCm39) missense probably damaging 1.00
R7173:Slc2a9 UTSW 5 38,610,214 (GRCm39) splice site probably null
R7286:Slc2a9 UTSW 5 38,610,538 (GRCm39) missense probably damaging 0.99
R7405:Slc2a9 UTSW 5 38,549,167 (GRCm39) missense probably damaging 1.00
R7573:Slc2a9 UTSW 5 38,574,569 (GRCm39) missense probably damaging 1.00
R7594:Slc2a9 UTSW 5 38,508,634 (GRCm39) missense probably benign 0.00
R8212:Slc2a9 UTSW 5 38,637,402 (GRCm39) missense probably benign 0.00
R8508:Slc2a9 UTSW 5 38,539,421 (GRCm39) missense probably damaging 1.00
R9167:Slc2a9 UTSW 5 38,549,092 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCATGCAGTGAAGTCTTTCCAG -3'
(R):5'- GGTGTCAAACATGCCAAGAG -3'

Sequencing Primer
(F):5'- CCAGTTAAACTGTATGAGCTCCTG -3'
(R):5'- ATGCCAAGAGTGCCCTGTACAG -3'
Posted On 2014-10-16