Incidental Mutation 'R2326:Slc23a2'
ID 244905
Institutional Source Beutler Lab
Gene Symbol Slc23a2
Ensembl Gene ENSMUSG00000027340
Gene Name solute carrier family 23 (nucleobase transporters), member 2
Synonyms YSPL3, SVCT2, Slc23a1
MMRRC Submission 040317-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2326 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 131894416-131987028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 131936115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 52 (E52K)
Ref Sequence ENSEMBL: ENSMUSP00000028815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028815] [ENSMUST00000128899]
AlphaFold Q9EPR4
Predicted Effect possibly damaging
Transcript: ENSMUST00000028815
AA Change: E52K

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028815
Gene: ENSMUSG00000027340
AA Change: E52K

DomainStartEndE-ValueType
Pfam:Xan_ur_permease 101 534 1.7e-93 PFAM
transmembrane domain 547 566 N/A INTRINSIC
low complexity region 578 592 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127724
Predicted Effect probably benign
Transcript: ENSMUST00000128899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133407
Meta Mutation Damage Score 0.1352 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (31/31)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die within minutes of birth from respiratory distress. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bglap3 G C 3: 88,276,819 (GRCm39) probably benign Het
Cdh3 A G 8: 107,237,940 (GRCm39) T45A probably benign Het
Cdyl2 A G 8: 117,350,537 (GRCm39) V198A probably benign Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cyp7a1 A T 4: 6,268,396 (GRCm39) I443K probably benign Het
Dazap1 T A 10: 80,120,067 (GRCm39) M234K possibly damaging Het
Dnmt1 A T 9: 20,835,442 (GRCm39) probably benign Het
Dusp8 A G 7: 141,643,800 (GRCm39) Y38H probably damaging Het
Ewsr1 A G 11: 5,041,857 (GRCm39) probably null Het
Fem1b T C 9: 62,704,285 (GRCm39) H325R probably damaging Het
Flrt3 C A 2: 140,503,311 (GRCm39) V106F possibly damaging Het
Foxp2 T A 6: 15,409,938 (GRCm39) S513T possibly damaging Het
Gm5600 G T 7: 113,307,041 (GRCm39) noncoding transcript Het
Haspin A G 11: 73,026,911 (GRCm39) I726T probably benign Het
Lama4 T A 10: 38,918,563 (GRCm39) probably null Het
Lrrc7 A T 3: 157,876,298 (GRCm39) H597Q probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Plcb4 C T 2: 135,781,893 (GRCm39) T238M probably damaging Het
Plekhd1 A G 12: 80,768,873 (GRCm39) probably null Het
Prph C G 15: 98,953,163 (GRCm39) probably benign Het
Rassf2 C T 2: 131,842,352 (GRCm39) probably null Het
Saal1 A G 7: 46,342,235 (GRCm39) F403L probably benign Het
Serpina3a C T 12: 104,082,758 (GRCm39) T177I probably benign Het
Stab2 T A 10: 86,790,338 (GRCm39) probably null Het
Syne3 T A 12: 104,935,493 (GRCm39) E95V probably damaging Het
Vmn1r58 G T 7: 5,413,939 (GRCm39) T97N probably damaging Het
Vmn2r61 T G 7: 41,916,287 (GRCm39) L300W probably damaging Het
Vps13a T C 19: 16,720,421 (GRCm39) E388G possibly damaging Het
Other mutations in Slc23a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Slc23a2 APN 2 131,943,420 (GRCm39) missense probably benign 0.00
IGL01123:Slc23a2 APN 2 131,898,736 (GRCm39) missense probably benign 0.02
IGL03115:Slc23a2 APN 2 131,933,185 (GRCm39) missense probably damaging 1.00
R0352:Slc23a2 UTSW 2 131,902,716 (GRCm39) missense probably benign 0.03
R0446:Slc23a2 UTSW 2 131,920,353 (GRCm39) missense probably benign 0.06
R0499:Slc23a2 UTSW 2 131,913,937 (GRCm39) missense probably damaging 1.00
R1252:Slc23a2 UTSW 2 131,904,117 (GRCm39) splice site probably null
R1663:Slc23a2 UTSW 2 131,907,384 (GRCm39) missense probably damaging 1.00
R1768:Slc23a2 UTSW 2 131,917,561 (GRCm39) missense probably benign
R1914:Slc23a2 UTSW 2 131,898,686 (GRCm39) missense probably damaging 0.99
R2277:Slc23a2 UTSW 2 131,933,179 (GRCm39) missense possibly damaging 0.54
R2385:Slc23a2 UTSW 2 131,931,121 (GRCm39) missense probably benign 0.01
R4049:Slc23a2 UTSW 2 131,902,603 (GRCm39) missense probably benign 0.00
R4084:Slc23a2 UTSW 2 131,933,137 (GRCm39) nonsense probably null
R4497:Slc23a2 UTSW 2 131,898,702 (GRCm39) nonsense probably null
R4710:Slc23a2 UTSW 2 131,898,629 (GRCm39) missense probably benign
R4873:Slc23a2 UTSW 2 131,898,800 (GRCm39) missense possibly damaging 0.75
R4875:Slc23a2 UTSW 2 131,898,800 (GRCm39) missense possibly damaging 0.75
R5008:Slc23a2 UTSW 2 131,943,414 (GRCm39) missense probably damaging 0.99
R5164:Slc23a2 UTSW 2 131,917,370 (GRCm39) intron probably benign
R5236:Slc23a2 UTSW 2 131,917,504 (GRCm39) missense probably damaging 0.97
R6587:Slc23a2 UTSW 2 131,920,401 (GRCm39) missense possibly damaging 0.70
R6738:Slc23a2 UTSW 2 131,920,356 (GRCm39) missense probably benign 0.10
R6960:Slc23a2 UTSW 2 131,933,173 (GRCm39) missense probably damaging 1.00
R7000:Slc23a2 UTSW 2 131,936,123 (GRCm39) missense possibly damaging 0.93
R7062:Slc23a2 UTSW 2 131,933,189 (GRCm39) missense probably damaging 0.99
R7293:Slc23a2 UTSW 2 131,931,026 (GRCm39) missense probably benign 0.02
R7324:Slc23a2 UTSW 2 131,931,043 (GRCm39) missense probably damaging 1.00
R8077:Slc23a2 UTSW 2 131,931,092 (GRCm39) missense possibly damaging 0.51
R8794:Slc23a2 UTSW 2 131,902,629 (GRCm39) missense probably benign 0.01
R8839:Slc23a2 UTSW 2 131,943,392 (GRCm39) splice site silent
R8882:Slc23a2 UTSW 2 131,933,159 (GRCm39) missense possibly damaging 0.82
R9129:Slc23a2 UTSW 2 131,920,332 (GRCm39) critical splice donor site probably null
R9252:Slc23a2 UTSW 2 131,913,842 (GRCm39) missense probably damaging 1.00
R9597:Slc23a2 UTSW 2 131,904,098 (GRCm39) missense probably damaging 1.00
R9728:Slc23a2 UTSW 2 131,900,130 (GRCm39) missense probably damaging 1.00
X0011:Slc23a2 UTSW 2 131,933,183 (GRCm39) missense possibly damaging 0.64
X0018:Slc23a2 UTSW 2 131,908,726 (GRCm39) missense probably benign 0.30
Z1176:Slc23a2 UTSW 2 131,902,708 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGCCAAGGCTTTTACAAATACCTAG -3'
(R):5'- CGCTGCGATATGTAATGCGC -3'

Sequencing Primer
(F):5'- ACCTAGTAATTATGACTCTTCC -3'
(R):5'- AATGCGCAGTTTAGGGCTCTC -3'
Posted On 2014-10-30