Incidental Mutation 'R0968:Slc5a2'
ID 83950
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 039097-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0968 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127864855-127871602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 127869803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Proline at position 412 (R412P)
Ref Sequence ENSEMBL: ENSMUSP00000112597 (fasta)
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 damaging
Transcript: ENSMUST00000118169
AA Change: R412P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112597
Gene: ENSMUSG00000030781
AA Change: R412P

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: 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 noncoding transcript
Transcript: ENSMUST00000136345
Predicted Effect probably benign
Transcript: ENSMUST00000137038
SMART Domains Protein: ENSMUSP00000124318
Gene: ENSMUSG00000030781

DomainStartEndE-ValueType
Pfam:SSF 1 103 3.3e-41 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000206716
AA Change: R195P
Predicted Effect unknown
Transcript: ENSMUST00000206703
AA Change: R19P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154003
Predicted Effect probably benign
Transcript: ENSMUST00000205720
Predicted Effect probably benign
Transcript: ENSMUST00000206909
Predicted Effect probably benign
Transcript: ENSMUST00000153418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147091
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146735
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 0.9202 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.0%
  • 20x: 96.7%
Validation Efficiency 94% (34/36)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,772,967 (GRCm39) V719M probably damaging Het
Abca13 A G 11: 9,248,016 (GRCm39) S2588G probably benign Het
Acaca C T 11: 84,129,859 (GRCm39) Q405* probably null Het
Brms1l G A 12: 55,912,798 (GRCm39) D264N possibly damaging Het
Cabcoco1 T C 10: 68,272,202 (GRCm39) M254V probably benign Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Coro7 G C 16: 4,487,919 (GRCm39) probably benign Het
Cylc2 A G 4: 51,216,706 (GRCm39) M1V probably null Het
Cyp3a11 G A 5: 145,799,324 (GRCm39) probably benign Het
Dnah10 C T 5: 124,906,641 (GRCm39) T4224M probably damaging Het
Dnah2 T C 11: 69,339,345 (GRCm39) E3054G possibly damaging Het
Dnm3 A G 1: 161,847,388 (GRCm39) probably benign Het
Efcab5 G A 11: 77,031,749 (GRCm39) R42W probably damaging Het
Fgf12 T C 16: 27,981,185 (GRCm39) N177S probably null Het
Flt3 C T 5: 147,278,037 (GRCm39) V846I possibly damaging Het
Gm11569 A T 11: 99,689,250 (GRCm39) probably benign Het
Gm12695 A C 4: 96,650,303 (GRCm39) V181G probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Lars1 C A 18: 42,351,648 (GRCm39) R852L probably benign Het
Lca5 T C 9: 83,305,222 (GRCm39) T195A probably benign Het
Lrrc40 G A 3: 157,742,426 (GRCm39) D14N probably damaging Het
Map4k2 T C 19: 6,395,487 (GRCm39) S327P probably damaging Het
Mpp4 A G 1: 59,169,249 (GRCm39) F397L probably damaging Het
Mtus2 T C 5: 148,014,994 (GRCm39) S596P probably benign Het
Myo3a T A 2: 22,448,301 (GRCm39) N25K probably damaging Het
Nadsyn1 T C 7: 143,359,770 (GRCm39) T401A probably benign Het
Pde6a A T 18: 61,386,809 (GRCm39) E395D probably damaging Het
Plekhm2 A G 4: 141,357,243 (GRCm39) V743A probably benign Het
Pzp A T 6: 128,502,108 (GRCm39) D80E probably benign Het
Rp1 A T 1: 4,415,575 (GRCm39) C1846S probably benign Het
Shbg A G 11: 69,508,014 (GRCm39) L117P probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Supt20 A G 3: 54,615,821 (GRCm39) probably benign Het
Vcpip1 A T 1: 9,816,604 (GRCm39) I593N 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
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
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'- AGGGCTGGAAATGGATTGCCCTTG -3'
(R):5'- GAATGTAATCGAAGAGCTGCCCACC -3'

Sequencing Primer
(F):5'- GGAGGGTCACCTCACCAAC -3'
(R):5'- TGAGCTGCCTGCACCAC -3'
Posted On 2013-11-08