Incidental Mutation 'R4983:Slc5a2'
ID 385736
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 042577-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4983 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127864855-127871602 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to T at 127870982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Cysteine at position 154 (*154C)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033044] [ENSMUST00000033045] [ENSMUST00000118169] [ENSMUST00000126263] [ENSMUST00000137038] [ENSMUST00000205720] [ENSMUST00000206909] [ENSMUST00000153418] [ENSMUST00000142841]
AlphaFold Q923I7
Predicted Effect probably benign
Transcript: ENSMUST00000033044
SMART Domains Protein: ENSMUSP00000033044
Gene: ENSMUSG00000030780

DomainStartEndE-ValueType
Pfam:DUF647 62 301 5.6e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000033045
Predicted Effect probably benign
Transcript: ENSMUST00000118169
AA Change: D574V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112597
Gene: ENSMUSG00000030781
AA Change: D574V

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 noncoding transcript
Transcript: ENSMUST00000124216
Predicted Effect probably benign
Transcript: ENSMUST00000126263
SMART Domains Protein: ENSMUSP00000114673
Gene: ENSMUSG00000030780

DomainStartEndE-ValueType
Pfam:DUF647 61 304 3e-102 PFAM
low complexity region 334 347 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 noncoding transcript
Transcript: ENSMUST00000147091
Predicted Effect unknown
Transcript: ENSMUST00000206716
AA Change: D285V
Predicted Effect probably null
Transcript: ENSMUST00000206703
AA Change: *154C
Predicted Effect probably null
Transcript: ENSMUST00000205720
AA Change: *467C
Predicted Effect probably benign
Transcript: ENSMUST00000206909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139452
Predicted Effect probably benign
Transcript: ENSMUST00000153418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154003
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155177
Predicted Effect probably benign
Transcript: ENSMUST00000142841
SMART Domains Protein: ENSMUSP00000115451
Gene: ENSMUSG00000030781

DomainStartEndE-ValueType
Pfam:SSF 53 276 5.7e-81 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (103/106)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik T G 19: 42,041,515 (GRCm39) S215R possibly damaging Het
Abcc9 T C 6: 142,627,867 (GRCm39) M388V probably benign Het
Acbd6 A C 1: 155,477,275 (GRCm39) T154P probably benign Het
Ago1 T C 4: 126,347,447 (GRCm39) D434G probably damaging Het
Ankib1 A T 5: 3,819,652 (GRCm39) M89K probably benign Het
Arap2 A T 5: 62,833,868 (GRCm39) H866Q probably damaging Het
Armh3 T C 19: 45,939,146 (GRCm39) T335A probably benign Het
Capn12 A T 7: 28,589,795 (GRCm39) H622L probably benign Het
Capns2 T G 8: 93,628,530 (GRCm39) F140V probably damaging Het
Catsper1 T G 19: 5,385,991 (GRCm39) F75V probably benign Het
Ccdc24 T C 4: 117,729,297 (GRCm39) N16S probably benign Het
Cdkn2aip A T 8: 48,165,964 (GRCm39) L114Q probably damaging Het
Cenpe T A 3: 134,940,689 (GRCm39) S649R probably damaging Het
Chgb A T 2: 132,635,602 (GRCm39) R515W probably damaging Het
Chrnb1 A G 11: 69,684,804 (GRCm39) F123S probably damaging Het
Copz2 A T 11: 96,748,377 (GRCm39) probably null Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
Daw1 C A 1: 83,165,719 (GRCm39) A178E probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Epb41l5 T C 1: 119,482,801 (GRCm39) D629G probably benign Het
Erap1 A G 13: 74,838,829 (GRCm39) E925G probably benign Het
Exoc7 A C 11: 116,180,095 (GRCm39) F657V probably damaging Het
Fam210b G C 2: 172,187,585 (GRCm39) A2P probably damaging Homo
Fry A G 5: 150,321,719 (GRCm39) E1018G probably damaging Het
Galc A T 12: 98,209,027 (GRCm39) L15* probably null Het
Gm11232 T A 4: 71,675,138 (GRCm39) K121N possibly damaging Het
Hectd1 A T 12: 51,831,045 (GRCm39) D931E probably benign Het
Hecw2 T C 1: 53,871,830 (GRCm39) H1372R probably benign Het
Ighv3-2 T A 12: 113,997,606 (GRCm39) noncoding transcript Het
Kcns2 T G 15: 34,839,751 (GRCm39) S371R probably damaging Het
Kif23 T C 9: 61,843,985 (GRCm39) K175E probably benign Het
Kmt2c G A 5: 25,500,509 (GRCm39) R436W possibly damaging Het
Lama5 A G 2: 179,835,242 (GRCm39) S1317P probably benign Het
Lce1e T C 3: 92,615,135 (GRCm39) S71G unknown Het
Lrrc37a T A 11: 103,388,444 (GRCm39) E2327V unknown Het
Map3k20 A G 2: 72,232,411 (GRCm39) M356V probably benign Het
Med12l C T 3: 59,169,350 (GRCm39) A1580V probably damaging Het
Metap2 G T 10: 93,725,462 (GRCm39) T30K possibly damaging Het
Mysm1 T A 4: 94,861,207 (GRCm39) T53S probably benign Het
Nasp A T 4: 116,459,382 (GRCm39) D717E probably damaging Het
Ndnf G A 6: 65,680,555 (GRCm39) R278H possibly damaging Het
Neb A T 2: 52,106,273 (GRCm39) N4205K probably damaging Het
Nebl A T 2: 17,380,082 (GRCm39) I764N possibly damaging Het
Nucb1 A G 7: 45,148,313 (GRCm39) Y131H probably damaging Het
Or14c39 A C 7: 86,343,687 (GRCm39) T8P probably benign Het
Or1e22 A G 11: 73,377,623 (GRCm39) I9T probably benign Het
Or5l14 G T 2: 87,793,042 (GRCm39) H65N probably benign Het
Oscp1 T A 4: 125,970,555 (GRCm39) C115S probably benign Het
Paip2 C T 18: 35,746,412 (GRCm39) R59C possibly damaging Het
Pate10 T G 9: 35,653,465 (GRCm39) F90V probably benign Het
Pcdhga4 G A 18: 37,819,572 (GRCm39) D374N probably damaging Het
Pcolce G T 5: 137,603,936 (GRCm39) probably benign Het
Pcyox1l T C 18: 61,832,468 (GRCm39) E193G probably damaging Het
Pde6b A T 5: 108,573,196 (GRCm39) Q522L probably benign Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Phf11a A G 14: 59,521,887 (GRCm39) F95L probably benign Het
Pja2 A C 17: 64,616,053 (GRCm39) S281A probably benign Het
Plekhm2 A G 4: 141,361,687 (GRCm39) F272S probably damaging Het
Pom121l2 T C 13: 22,167,984 (GRCm39) S752P probably benign Het
Ppl T C 16: 4,906,582 (GRCm39) T1238A possibly damaging Het
Prmt7 A G 8: 106,976,995 (GRCm39) Y569C probably damaging Het
Prss37 G A 6: 40,493,070 (GRCm39) T132I probably benign Het
Psmf1 A T 2: 151,571,377 (GRCm39) probably benign Het
Ptprj A C 2: 90,290,876 (GRCm39) I528S probably damaging Het
Reg1 A G 6: 78,405,196 (GRCm39) T140A possibly damaging Het
Rtn4 A G 11: 29,657,217 (GRCm39) N457S probably benign Het
Rusf1 C T 7: 127,875,645 (GRCm39) probably benign Het
Scn9a T C 2: 66,396,614 (GRCm39) K93R probably benign Het
Sec16a A G 2: 26,329,531 (GRCm39) V828A probably benign Het
Sec23b T A 2: 144,423,873 (GRCm39) D507E probably benign Het
Sirt4 A T 5: 115,620,850 (GRCm39) F107L probably benign Het
Slc14a2 A T 18: 78,193,616 (GRCm39) L862Q probably damaging Het
Slc16a4 T C 3: 107,208,176 (GRCm39) S229P probably benign Het
Slc37a3 A T 6: 39,329,651 (GRCm39) C185* probably null Het
Snx17 A G 5: 31,353,138 (GRCm39) S42G possibly damaging Het
Tgm6 T C 2: 129,983,113 (GRCm39) V234A probably damaging Het
Thbs4 A G 13: 92,927,207 (GRCm39) M94T probably benign Het
Thtpa A G 14: 55,309,605 (GRCm39) probably benign Het
Tie1 T C 4: 118,340,952 (GRCm39) E343G probably damaging Het
Tmem145 A G 7: 25,008,027 (GRCm39) I238V probably benign Het
Tmprss11f T C 5: 86,685,858 (GRCm39) S170G probably benign Het
Tnk2 T A 16: 32,499,283 (GRCm39) D865E probably damaging Het
Ttll8 T C 15: 88,809,785 (GRCm39) E337G probably benign Het
Ttn G A 2: 76,697,790 (GRCm39) probably benign Het
Tubgcp6 T C 15: 88,990,494 (GRCm39) E710G probably damaging Het
Txndc2 T A 17: 65,945,055 (GRCm39) H374L probably benign Het
Unc80 G T 1: 66,713,891 (GRCm39) probably null Het
Vmn2r23 G A 6: 123,710,308 (GRCm39) C537Y probably damaging Het
Vmn2r45 A G 7: 8,486,116 (GRCm39) F391L probably damaging Het
Vstm4 A T 14: 32,641,202 (GRCm39) T262S probably benign Het
Zfp180 C T 7: 23,805,503 (GRCm39) R641C probably damaging Het
Zfp979 A T 4: 147,698,371 (GRCm39) S113T possibly damaging Het
Zswim4 C T 8: 84,953,296 (GRCm39) probably null Het
Zswim5 T A 4: 116,842,883 (GRCm39) M876K possibly 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
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
R8710:Slc5a2 UTSW 7 127,864,966 (GRCm39) missense probably damaging 0.96
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'- TGAAGGCAAAGACTGTCCTGG -3'
(R):5'- TCTTGCTCATCCCACAGAAC -3'

Sequencing Primer
(F):5'- CTGTCCTGGAAAGAGGAGTCTG -3'
(R):5'- GAACCAAAGCAGGCACCGG -3'
Posted On 2016-05-10