Incidental Mutation 'R8710:Slc5a2'
ID 669502
Institutional Source Beutler Lab
Gene Symbol Slc5a2
Ensembl Gene ENSMUSG00000030781
Gene Name solute carrier family 5 (sodium/glucose cotransporter), member 2
Synonyms Sglt2
MMRRC Submission 068564-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8710 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 127864855-127871602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127864966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 33 (L33P)
Ref Sequence ENSEMBL: ENSMUSP00000112597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033045] [ENSMUST00000118169] [ENSMUST00000137038] [ENSMUST00000142841] [ENSMUST00000153418] [ENSMUST00000205720] [ENSMUST00000206909]
AlphaFold Q923I7
Predicted Effect probably benign
Transcript: ENSMUST00000033045
Predicted Effect probably damaging
Transcript: ENSMUST00000118169
AA Change: L33P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112597
Gene: ENSMUSG00000030781
AA Change: L33P

DomainStartEndE-ValueType
Pfam:SSF 53 490 7e-170 PFAM
transmembrane domain 524 546 N/A INTRINSIC
low complexity region 566 577 N/A INTRINSIC
low complexity region 615 635 N/A INTRINSIC
transmembrane domain 650 669 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137038
SMART Domains Protein: ENSMUSP00000124318
Gene: ENSMUSG00000030781

DomainStartEndE-ValueType
Pfam:SSF 1 103 3.3e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142841
AA Change: L33P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115451
Gene: ENSMUSG00000030781
AA Change: L33P

DomainStartEndE-ValueType
Pfam:SSF 53 276 5.7e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153418
Predicted Effect probably damaging
Transcript: ENSMUST00000205720
AA Change: L33P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000206703
Predicted Effect probably benign
Transcript: ENSMUST00000206716
Predicted Effect probably damaging
Transcript: ENSMUST00000206909
AA Change: L33P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (68/69)
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 sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. Two transcript variants, one protein-coding and one not, have been found for this gene. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit increased urine glucose, increased eating and drinking behaviors, increased circulating renin activity, decreased urine osmolality, decreased serum aldosterone levels, polyuria, and decreased glucose renal reabsorption. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A G 5: 9,005,495 (GRCm39) N1126S probably damaging Het
Ablim2 C T 5: 36,030,518 (GRCm39) A581V possibly damaging Het
Agpat5 T A 8: 18,928,105 (GRCm39) D223E possibly damaging Het
Anks3 A C 16: 4,775,976 (GRCm39) Y75* probably null Het
Ano5 T G 7: 51,243,419 (GRCm39) D847E probably damaging Het
Asb6 G T 2: 30,717,072 (GRCm39) T51K probably benign Het
Bahcc1 A G 11: 120,174,953 (GRCm39) E1702G probably damaging Het
Bend7 A G 2: 4,767,925 (GRCm39) M294V probably benign Het
Cadm1 T A 9: 47,759,466 (GRCm39) D392E probably damaging Het
Camkmt T C 17: 85,421,277 (GRCm39) probably benign Het
Cd300a A G 11: 114,785,501 (GRCm39) T149A probably benign Het
Cd69 A T 6: 129,246,573 (GRCm39) W153R possibly damaging Het
Cdc25c T A 18: 34,882,666 (GRCm39) probably benign Het
Clnk A C 5: 38,931,940 (GRCm39) C40W possibly damaging Het
Cthrc1 T A 15: 38,947,821 (GRCm39) L180Q probably damaging Het
Cyld A G 8: 89,436,523 (GRCm39) N271S probably damaging Het
Dnah14 T C 1: 181,517,876 (GRCm39) I2070T probably benign Het
Dnah17 A C 11: 117,932,973 (GRCm39) L3595R probably damaging Het
Edrf1 A G 7: 133,245,495 (GRCm39) Y211C probably damaging Het
Efcab6 A G 15: 83,902,849 (GRCm39) I167T probably benign Het
Elavl3 A T 9: 21,937,849 (GRCm39) Y148N probably damaging Het
Ermardl2 A T 17: 15,209,194 (GRCm39) N342I probably damaging Het
Fam83c A G 2: 155,671,642 (GRCm39) S598P probably benign Het
Gm38119 ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA 3: 92,645,197 (GRCm39) probably benign Het
Helb A G 10: 119,941,872 (GRCm39) L272P probably damaging Het
Iars2 A C 1: 185,027,783 (GRCm39) V715G probably benign Het
Iqgap2 T G 13: 95,796,756 (GRCm39) N1133H probably benign Het
Kifc5b T A 17: 27,139,880 (GRCm39) M43K probably damaging Het
Krtap7-1 T A 16: 89,305,008 (GRCm39) Y48F possibly damaging Het
Lag3 G A 6: 124,885,408 (GRCm39) T324I probably damaging Het
Mapkapk2 C A 1: 130,986,448 (GRCm39) A97S possibly damaging Het
Mettl4 A G 17: 95,041,072 (GRCm39) S361P probably damaging Het
Myh4 A G 11: 67,143,158 (GRCm39) T1029A probably benign Het
Nsl1 C A 1: 190,795,420 (GRCm39) A62D probably benign Het
Oas1e T A 5: 120,930,027 (GRCm39) K164* probably null Het
Obsl1 A G 1: 75,469,326 (GRCm39) F1205S probably benign Het
Or14j2 G T 17: 37,885,540 (GRCm39) A258E probably benign Het
Or1e1b-ps1 G A 11: 73,845,694 (GRCm39) M59I possibly damaging Het
Or8c15 C T 9: 38,121,066 (GRCm39) A237V possibly damaging Het
Or8g18 T A 9: 39,149,306 (GRCm39) Y138F probably benign Het
Pald1 A G 10: 61,183,232 (GRCm39) F334S probably benign Het
Pikfyve A G 1: 65,255,155 (GRCm39) E325G possibly damaging Het
Plekha8 A G 6: 54,599,245 (GRCm39) T215A probably benign Het
Ptprq T C 10: 107,411,919 (GRCm39) R1816G possibly damaging Het
Ralgps1 G A 2: 33,035,433 (GRCm39) L472F probably damaging Het
Rasal1 A T 5: 120,801,002 (GRCm39) T221S probably benign Het
Rfx6 A G 10: 51,601,501 (GRCm39) T607A probably damaging Het
Rnf214 T A 9: 45,778,748 (GRCm39) probably benign Het
Rtca A T 3: 116,291,303 (GRCm39) Y226N probably benign Het
Sash1 T A 10: 8,656,285 (GRCm39) N236Y possibly damaging Het
Skint11 A G 4: 114,051,951 (GRCm39) I100V probably benign Het
Skint5 A T 4: 113,483,787 (GRCm39) S948R unknown Het
Slc25a13 A T 6: 6,114,238 (GRCm39) Y279N probably benign Het
Slco1a5 A T 6: 142,198,828 (GRCm39) V279E probably benign Het
Ssh3 G T 19: 4,313,833 (GRCm39) H475Q probably benign Het
Tapt1 A G 5: 44,351,743 (GRCm39) S107P probably benign Het
Tjp2 T C 19: 24,072,796 (GRCm39) E1166G probably damaging Het
Tll1 A G 8: 64,577,940 (GRCm39) L89P possibly damaging Het
Tmc4 G T 7: 3,678,463 (GRCm39) T123N probably benign Het
Tmem139 A G 6: 42,241,021 (GRCm39) D202G probably damaging Het
Trim35 T C 14: 66,545,367 (GRCm39) S313P probably damaging Het
Ttc23l A G 15: 10,540,021 (GRCm39) I154T probably damaging Het
Ttc9c T C 19: 8,795,860 (GRCm39) T60A probably benign Het
Wdfy3 G T 5: 102,030,349 (GRCm39) N2386K probably damaging Het
Wdpcp C A 11: 21,610,924 (GRCm39) Q49K probably benign Het
Xrn1 A T 9: 95,884,285 (GRCm39) Y867F Het
Zfp423 C T 8: 88,507,549 (GRCm39) E932K possibly damaging Het
Zfp592 T C 7: 80,673,321 (GRCm39) F95S probably damaging Het
Zfp644 T G 5: 106,782,997 (GRCm39) N1095H probably damaging Het
Zfp983 A T 17: 21,880,234 (GRCm39) N54I probably damaging Het
Other mutations in Slc5a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Slc5a2 APN 7 127,869,794 (GRCm39) missense probably benign 0.07
IGL03084:Slc5a2 APN 7 127,865,776 (GRCm39) missense probably benign 0.25
dregs UTSW 7 127,866,677 (GRCm39) splice site probably null
jimbee UTSW 7 0 () large deletion
R0026:Slc5a2 UTSW 7 127,869,225 (GRCm39) missense probably damaging 1.00
R0395:Slc5a2 UTSW 7 127,866,654 (GRCm39) missense probably damaging 1.00
R0544:Slc5a2 UTSW 7 127,869,171 (GRCm39) missense probably damaging 1.00
R0762:Slc5a2 UTSW 7 127,866,654 (GRCm39) missense probably damaging 1.00
R0966:Slc5a2 UTSW 7 127,869,803 (GRCm39) missense probably damaging 1.00
R0968:Slc5a2 UTSW 7 127,869,803 (GRCm39) missense probably damaging 1.00
R1382:Slc5a2 UTSW 7 127,869,803 (GRCm39) missense probably damaging 1.00
R1383:Slc5a2 UTSW 7 127,869,803 (GRCm39) missense probably damaging 1.00
R1385:Slc5a2 UTSW 7 127,869,803 (GRCm39) missense probably damaging 1.00
R1467:Slc5a2 UTSW 7 127,870,428 (GRCm39) unclassified probably benign
R4836:Slc5a2 UTSW 7 127,866,677 (GRCm39) splice site probably null
R4983:Slc5a2 UTSW 7 127,870,982 (GRCm39) makesense probably null
R5703:Slc5a2 UTSW 7 127,869,787 (GRCm39) missense possibly damaging 0.77
R6185:Slc5a2 UTSW 7 127,870,349 (GRCm39) missense probably damaging 0.98
R6696:Slc5a2 UTSW 7 127,869,215 (GRCm39) missense probably damaging 1.00
R6969:Slc5a2 UTSW 7 127,871,249 (GRCm39) missense probably benign 0.00
R7062:Slc5a2 UTSW 7 127,869,212 (GRCm39) missense probably damaging 0.99
R7576:Slc5a2 UTSW 7 127,864,977 (GRCm39) missense probably damaging 1.00
R7747:Slc5a2 UTSW 7 127,865,567 (GRCm39) splice site probably null
R7802:Slc5a2 UTSW 7 127,870,970 (GRCm39) missense possibly damaging 0.80
R7915:Slc5a2 UTSW 7 127,864,966 (GRCm39) missense probably damaging 0.96
R8027:Slc5a2 UTSW 7 127,869,718 (GRCm39) missense probably damaging 1.00
R8194:Slc5a2 UTSW 7 127,870,328 (GRCm39) missense probably benign 0.33
R9210:Slc5a2 UTSW 7 127,867,939 (GRCm39) missense probably damaging 1.00
R9212:Slc5a2 UTSW 7 127,867,939 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGGCCTTGATAGATCCTGATTC -3'
(R):5'- TTGCACAATCCAGAAGGTACG -3'

Sequencing Primer
(F):5'- ACTTGTCGGCTCAGTGC -3'
(R):5'- GCACAATCCAGAAGGTACGAAGAC -3'
Posted On 2021-04-30