Incidental Mutation 'R2277:Slc23a2'
ID242842
Institutional Source Beutler Lab
Gene Symbol Slc23a2
Ensembl Gene ENSMUSG00000027340
Gene Namesolute carrier family 23 (nucleobase transporters), member 2
SynonymsSlc23a1, SVCT2, YSPL3
MMRRC Submission 040276-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R2277 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location132052496-132145108 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 132091259 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 93 (I93T)
Ref Sequence ENSEMBL: ENSMUSP00000028815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028815] [ENSMUST00000128899]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028815
AA Change: I93T

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000028815
Gene: ENSMUSG00000027340
AA Change: I93T

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13d T C 19: 4,280,984 H165R probably benign Het
Arhgap21 T C 2: 20,863,226 I829V possibly damaging Het
Atxn1 T C 13: 45,557,068 N796S probably damaging Het
Bdp1 C A 13: 100,061,330 S849I probably benign Het
Bdp1 T A 13: 100,061,339 E846V probably damaging Het
Cdh4 C A 2: 179,797,524 H155N possibly damaging Het
Cela3a T C 4: 137,405,876 I62V possibly damaging Het
Cr2 T C 1: 195,157,368 R960G possibly damaging Het
Ddx42 T A 11: 106,242,939 D580E probably damaging Het
Dnah17 T C 11: 118,096,561 K1308E possibly damaging Het
Dnajc28 G A 16: 91,616,867 T187M probably damaging Het
Gh T C 11: 106,300,787 E143G probably damaging Het
Hcn3 C A 3: 89,147,861 R693L probably benign Het
Hdlbp G A 1: 93,408,178 R1199* probably null Het
Hook2 C T 8: 85,002,931 Q667* probably null Het
Ibtk T C 9: 85,703,151 I1147V probably benign Het
Itpk1 T C 12: 102,570,260 T376A probably benign Het
Lars C T 18: 42,235,502 V425I probably benign Het
Lgi4 T G 7: 31,060,612 L78V probably damaging Het
Madd A T 2: 91,143,683 C1419S possibly damaging Het
Mamld1 ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA X: 71,118,815 probably benign Het
Mpp2 T C 11: 102,064,301 E166G probably damaging Het
Mrgprb5 A G 7: 48,168,831 L52P probably damaging Het
Nlrp2 T C 7: 5,328,129 T423A probably benign Het
Nphs1 T A 7: 30,467,564 L732* probably null Het
Pcdhb10 T C 18: 37,412,624 I251T possibly damaging Het
Plcg1 T A 2: 160,755,805 M789K possibly damaging Het
Pom121l2 T C 13: 21,984,247 I896T probably benign Het
Ptpn4 T C 1: 119,684,591 D24G probably damaging Het
Rbm28 T C 6: 29,135,514 probably null Het
Rbp3 C T 14: 33,956,018 T641M probably damaging Het
Rhebl1 A T 15: 98,878,286 D162E probably benign Het
Runx1t1 T C 4: 13,771,501 V15A probably benign Het
Serpina10 T A 12: 103,626,743 I291F probably benign Het
Slc25a29 T C 12: 108,826,926 E242G probably benign Het
Sulf1 A C 1: 12,796,794 R67S probably benign Het
Syne2 A G 12: 75,927,466 E1146G possibly damaging Het
Tmem45a A T 16: 56,823,519 L89Q probably damaging Het
Top3a A C 11: 60,745,874 V655G possibly damaging Het
Ttc23l A G 15: 10,523,592 I347T possibly damaging Het
Other mutations in Slc23a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Slc23a2 APN 2 132101500 missense probably benign 0.00
IGL01123:Slc23a2 APN 2 132056816 missense probably benign 0.02
IGL03115:Slc23a2 APN 2 132091265 missense probably damaging 1.00
R0352:Slc23a2 UTSW 2 132060796 missense probably benign 0.03
R0446:Slc23a2 UTSW 2 132078433 missense probably benign 0.06
R0499:Slc23a2 UTSW 2 132072017 missense probably damaging 1.00
R1252:Slc23a2 UTSW 2 132062197 splice site probably null
R1663:Slc23a2 UTSW 2 132065464 missense probably damaging 1.00
R1768:Slc23a2 UTSW 2 132075641 missense probably benign
R1914:Slc23a2 UTSW 2 132056766 missense probably damaging 0.99
R2326:Slc23a2 UTSW 2 132094195 missense possibly damaging 0.72
R2385:Slc23a2 UTSW 2 132089201 missense probably benign 0.01
R4049:Slc23a2 UTSW 2 132060683 missense probably benign 0.00
R4084:Slc23a2 UTSW 2 132091217 nonsense probably null
R4497:Slc23a2 UTSW 2 132056782 nonsense probably null
R4710:Slc23a2 UTSW 2 132056709 missense probably benign
R4873:Slc23a2 UTSW 2 132056880 missense possibly damaging 0.75
R4875:Slc23a2 UTSW 2 132056880 missense possibly damaging 0.75
R5008:Slc23a2 UTSW 2 132101494 missense probably damaging 0.99
R5164:Slc23a2 UTSW 2 132075450 intron probably benign
R5236:Slc23a2 UTSW 2 132075584 missense probably damaging 0.97
R6587:Slc23a2 UTSW 2 132078481 missense possibly damaging 0.70
R6738:Slc23a2 UTSW 2 132078436 missense probably benign 0.10
R6960:Slc23a2 UTSW 2 132091253 missense probably damaging 1.00
R7000:Slc23a2 UTSW 2 132094203 missense possibly damaging 0.93
R7062:Slc23a2 UTSW 2 132091269 missense probably damaging 0.99
R7293:Slc23a2 UTSW 2 132089106 missense probably benign 0.02
R7324:Slc23a2 UTSW 2 132089123 missense probably damaging 1.00
R8077:Slc23a2 UTSW 2 132089172 missense possibly damaging 0.51
R8794:Slc23a2 UTSW 2 132060709 missense probably benign 0.01
X0011:Slc23a2 UTSW 2 132091263 missense possibly damaging 0.64
X0018:Slc23a2 UTSW 2 132066806 missense probably benign 0.30
Z1176:Slc23a2 UTSW 2 132060788 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CCCTGCTGTTCGGAAATTAATG -3'
(R):5'- TCAAAGGACAGAATGGCTACAC -3'

Sequencing Primer
(F):5'- TGGAGTTCAGTTCCCAGAAC -3'
(R):5'- TAACATCTTTCCGGGCAG -3'
Posted On2014-10-16