Incidental Mutation 'IGL02232:Slc2a9'
ID285782
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc2a9
Ensembl Gene ENSMUSG00000005107
Gene Namesolute carrier family 2 (facilitated glucose transporter), member 9
SynonymsSLC2a9A, Glut9, SLC2A9B
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL02232
Quality Score
Status
Chromosome5
Chromosomal Location38349273-38503143 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 38436670 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 150 (A150V)
Ref Sequence ENSEMBL: ENSMUSP00000005238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005238] [ENSMUST00000067872] [ENSMUST00000067886] [ENSMUST00000122970] [ENSMUST00000129099] [ENSMUST00000143758] [ENSMUST00000147664] [ENSMUST00000155634] [ENSMUST00000156272]
Predicted Effect probably benign
Transcript: ENSMUST00000005238
AA Change: A150V

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000005238
Gene: ENSMUSG00000005107
AA Change: A150V

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 probably benign
Transcript: ENSMUST00000067872
AA Change: A150V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000066872
Gene: ENSMUSG00000005107
AA Change: A150V

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 probably benign
Transcript: ENSMUST00000067886
AA Change: A165V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000063352
Gene: ENSMUSG00000005107
AA Change: A165V

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 benign
Transcript: ENSMUST00000122970
AA Change: A165V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000117390
Gene: ENSMUSG00000005107
AA Change: A165V

DomainStartEndE-ValueType
Pfam:MFS_1 28 269 7.5e-14 PFAM
Pfam:Sugar_tr 40 260 2e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129099
AA Change: A150V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000122723
Gene: ENSMUSG00000005107
AA Change: A150V

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 probably benign
Transcript: ENSMUST00000143758
AA Change: A165V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000118430
Gene: ENSMUSG00000005107
AA Change: A165V

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 noncoding transcript
Transcript: ENSMUST00000144290
Predicted Effect probably benign
Transcript: ENSMUST00000147664
SMART Domains Protein: ENSMUSP00000119586
Gene: ENSMUSG00000005107

DomainStartEndE-ValueType
Pfam:Sugar_tr 25 143 9.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155634
AA Change: A150V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000116354
Gene: ENSMUSG00000005107
AA Change: A150V

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 probably benign
Transcript: ENSMUST00000156272
SMART Domains Protein: ENSMUSP00000144374
Gene: ENSMUSG00000005107

DomainStartEndE-ValueType
Pfam:Sugar_tr 40 111 4.5e-9 PFAM
transmembrane domain 140 157 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik A G X: 12,664,525 V199A possibly damaging Het
Aco1 T C 4: 40,175,996 M210T probably damaging Het
Actr10 G A 12: 70,943,515 E114K probably benign Het
Adam6b T C 12: 113,491,144 M527T probably benign Het
Ahi1 C T 10: 20,981,375 T623M probably damaging Het
Aldh8a1 T C 10: 21,395,646 W424R probably damaging Het
Apeh A T 9: 108,091,872 S299T probably benign Het
Bbs5 A C 2: 69,655,551 I147L probably benign Het
Bmp2k T G 5: 97,031,250 probably benign Het
C2cd6 A G 1: 59,062,492 F336S probably damaging Het
Ccdc129 A G 6: 55,967,937 T548A unknown Het
Cd274 T A 19: 29,382,538 L248M probably damaging Het
Chsy3 T A 18: 59,409,311 M507K possibly damaging Het
Clip2 T C 5: 134,503,130 N572S probably damaging Het
Commd9 A G 2: 101,900,979 T170A probably benign Het
Cpt1c G A 7: 44,960,156 S674L probably damaging Het
Dhx33 C A 11: 70,987,204 R671L probably damaging Het
Dnah5 G A 15: 28,299,240 E1583K probably damaging Het
Eed G T 7: 89,972,285 N51K probably damaging Het
Efcab14 A G 4: 115,760,064 probably benign Het
Ephb2 A C 4: 136,657,451 M884R probably damaging Het
Foxn2 G T 17: 88,463,051 A109S probably benign Het
Fut1 A T 7: 45,619,447 D220V probably damaging Het
Gm6468 C T 5: 95,281,207 noncoding transcript Het
Gm7964 A T 7: 83,756,307 noncoding transcript Het
Gm9772 C T 17: 22,007,050 probably benign Het
Golph3 G T 15: 12,349,492 M199I probably benign Het
Itpr1 A G 6: 108,417,923 N1666D probably damaging Het
Kif12 C T 4: 63,166,495 E529K probably benign Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Lrrc52 T A 1: 167,466,380 N112I probably damaging Het
Msi1 T A 5: 115,441,447 probably null Het
Nasp T G 4: 116,604,800 E170A probably damaging Het
Necab2 T A 8: 119,462,652 V187E probably damaging Het
Obscn T C 11: 59,038,978 E5790G probably damaging Het
Olfr461 A G 6: 40,544,046 L311P probably damaging Het
Olfr872 A T 9: 20,260,215 D125V probably damaging Het
Pard3b C T 1: 62,166,382 T445I probably damaging Het
Pcdh10 A G 3: 45,380,942 I564V probably benign Het
Pcdhb22 T A 18: 37,520,549 L690Q probably damaging Het
Pemt T A 11: 59,976,854 T115S probably damaging Het
Plcl2 A G 17: 50,606,641 N226S possibly damaging Het
Ppp6r1 A G 7: 4,633,342 S750P probably damaging Het
Prtg T C 9: 72,851,489 V375A probably damaging Het
Psd3 A C 8: 67,904,145 M673R probably damaging Het
Ptprt T C 2: 161,530,517 I1392V probably damaging Het
Rlf G A 4: 121,182,614 T200I probably benign Het
Robo1 G A 16: 72,971,984 G479D possibly damaging Het
Rpe65 A G 3: 159,604,351 D87G possibly damaging Het
Sema3g T C 14: 31,221,224 V148A probably damaging Het
Sgms2 G A 3: 131,323,184 P341S probably benign Het
Skint7 A T 4: 111,982,028 Q173L possibly damaging Het
Slc35c2 A G 2: 165,282,881 L58P probably damaging Het
Slc7a6 G A 8: 106,196,574 C495Y possibly damaging Het
Smurf1 G A 5: 144,886,438 P458L probably damaging Het
Spag1 C T 15: 36,221,564 T601I probably benign Het
Spink8 A T 9: 109,820,597 Q49L possibly damaging Het
Spout1 A T 2: 30,175,254 Y284N probably damaging Het
Srrm1 A T 4: 135,353,116 M1K probably null Het
Stxbp5l A G 16: 37,329,895 L116P probably damaging Het
Tlr9 T C 9: 106,224,937 F476L probably damaging Het
Tmem41b A G 7: 109,978,753 V108A probably damaging Het
Tra2b A G 16: 22,249,040 probably benign Het
Trio G T 15: 27,902,561 H271Q probably benign Het
Ttn A G 2: 76,892,919 probably benign Het
Usp51 A T X: 153,008,673 H421L probably damaging Het
Vmn2r29 A T 7: 7,241,811 W355R probably damaging Het
Vpreb1 T C 16: 16,868,739 N96D possibly damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zp3r C A 1: 130,596,667 C213F probably damaging Het
Other mutations in Slc2a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02505:Slc2a9 APN 5 38436659 missense possibly damaging 0.69
IGL03096:Slc2a9 APN 5 38351229 missense probably damaging 1.00
transporter9 UTSW 5 38382044 missense probably damaging 1.00
R0121:Slc2a9 UTSW 5 38398743 missense probably benign 0.00
R0395:Slc2a9 UTSW 5 38453169 missense probably damaging 1.00
R0599:Slc2a9 UTSW 5 38480144 start gained probably benign
R0610:Slc2a9 UTSW 5 38379942 missense probably damaging 1.00
R0993:Slc2a9 UTSW 5 38382063 missense probably damaging 1.00
R1166:Slc2a9 UTSW 5 38382041 critical splice donor site probably null
R1710:Slc2a9 UTSW 5 38382044 missense probably damaging 1.00
R2256:Slc2a9 UTSW 5 38453199 missense probably damaging 0.96
R2257:Slc2a9 UTSW 5 38453199 missense probably damaging 0.96
R4066:Slc2a9 UTSW 5 38483349 missense probably benign 0.03
R4193:Slc2a9 UTSW 5 38398706 missense probably damaging 1.00
R4502:Slc2a9 UTSW 5 38398811 missense probably benign 0.04
R4734:Slc2a9 UTSW 5 38382099 missense probably damaging 1.00
R4917:Slc2a9 UTSW 5 38417260 missense probably benign 0.01
R5218:Slc2a9 UTSW 5 38453181 missense probably damaging 1.00
R5885:Slc2a9 UTSW 5 38440674 missense probably damaging 1.00
R6313:Slc2a9 UTSW 5 38453121 missense probably benign 0.03
R6983:Slc2a9 UTSW 5 38391721 missense probably damaging 1.00
R7173:Slc2a9 UTSW 5 38452871 intron probably null
R7286:Slc2a9 UTSW 5 38453195 missense probably damaging 0.99
R7405:Slc2a9 UTSW 5 38391824 missense probably damaging 1.00
R7573:Slc2a9 UTSW 5 38417226 missense probably damaging 1.00
R7594:Slc2a9 UTSW 5 38351291 missense probably benign 0.00
Posted On2015-04-16