Incidental Mutation 'R6587:Slc23a2'
ID 524459
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 044711-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6587 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 131894416-131987028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 131920401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 168 (S168N)
Ref Sequence ENSEMBL: ENSMUSP00000028815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028815]
AlphaFold Q9EPR4
Predicted Effect possibly damaging
Transcript: ENSMUST00000028815
AA Change: S168N

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028815
Gene: ENSMUSG00000027340
AA Change: S168N

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 noncoding transcript
Transcript: ENSMUST00000154009
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc2 TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG 2: 25,162,550 (GRCm39) probably benign Het
Ank3 G T 10: 69,825,982 (GRCm39) probably benign Het
Ano3 C A 2: 110,628,249 (GRCm39) probably null Het
Arhgap39 A G 15: 76,621,699 (GRCm39) S301P probably damaging Het
Atad2 G T 15: 57,984,444 (GRCm39) Q295K probably benign Het
Camkmt T C 17: 85,421,243 (GRCm39) V115A possibly damaging Het
Cenpf T C 1: 189,390,571 (GRCm39) E1087G probably damaging Het
Cfhr2 T A 1: 139,738,596 (GRCm39) I322F probably benign Het
Chil6 T C 3: 106,312,197 (GRCm39) M35V probably benign Het
Cyp3a44 T C 5: 145,742,569 (GRCm39) T11A probably benign Het
Fiz1 C T 7: 5,011,400 (GRCm39) A373T possibly damaging Het
Ghitm A T 14: 36,847,146 (GRCm39) Y309* probably null Het
Klhl18 T C 9: 110,284,494 (GRCm39) H64R probably damaging Het
Krt78 T C 15: 101,860,704 (GRCm39) K201R probably benign Het
Lpar3 T C 3: 145,946,918 (GRCm39) F199L probably damaging Het
Mindy3 G A 2: 12,352,927 (GRCm39) Q425* probably null Het
Or5b114-ps1 A T 19: 13,352,977 (GRCm39) Y217F unknown Het
P2rx7 A C 5: 122,802,613 (GRCm39) N207T probably damaging Het
Pcdhb7 T G 18: 37,477,156 (GRCm39) L764R probably benign Het
Pgap6 G A 17: 26,340,538 (GRCm39) V641I probably benign Het
Sbf2 T C 7: 110,040,182 (GRCm39) Y378C probably damaging Het
Tmem260 A G 14: 48,733,913 (GRCm39) probably null Het
Tmprss15 T G 16: 78,868,317 (GRCm39) L198F probably benign Het
Tulp4 C T 17: 6,282,146 (GRCm39) T725I possibly damaging Het
Tut4 C A 4: 108,336,646 (GRCm39) N123K probably benign Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zp3 A G 5: 136,016,352 (GRCm39) D318G 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
R2326:Slc23a2 UTSW 2 131,936,115 (GRCm39) missense possibly damaging 0.72
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
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'- GAGCATTCTAAGCTGCTTACG -3'
(R):5'- AACTAGTGGCTCCAGCTATGTG -3'

Sequencing Primer
(F):5'- CATTCTAAGCTGCTTACGGGATG -3'
(R):5'- GCTGTCAGAGGTCTTCACAGAG -3'
Posted On 2018-06-22