Incidental Mutation 'R0352:Slc23a2'
ID 29682
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 038558-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0352 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 131894416-131987028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 131902716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 495 (M495I)
Ref Sequence ENSEMBL: ENSMUSP00000028815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028815]
AlphaFold Q9EPR4
Predicted Effect probably benign
Transcript: ENSMUST00000028815
AA Change: M495I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000028815
Gene: ENSMUSG00000027340
AA Change: M495I

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: ENSMUST00000137910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148749
Meta Mutation Damage Score 0.2009 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.4%
  • 20x: 90.0%
Validation Efficiency 100% (70/70)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C T 12: 71,184,804 (GRCm39) T64M possibly damaging Het
3110040N11Rik G T 7: 81,438,208 (GRCm39) N49K probably benign Het
Adrb1 T A 19: 56,711,293 (GRCm39) F164I probably damaging Het
Aplf C T 6: 87,630,866 (GRCm39) V190I probably benign Het
Aqr A G 2: 114,000,533 (GRCm39) Y50H probably damaging Het
Arfgef3 A C 10: 18,537,135 (GRCm39) I182R probably benign Het
Cacna1b G A 2: 24,515,244 (GRCm39) probably benign Het
Casp9 A G 4: 141,532,841 (GRCm39) T246A probably damaging Het
Clcn6 A G 4: 148,099,063 (GRCm39) S427P probably damaging Het
Cnga1 T C 5: 72,761,846 (GRCm39) N556S possibly damaging Het
Cntnap2 G A 6: 45,969,018 (GRCm39) probably null Het
Col11a2 T G 17: 34,261,501 (GRCm39) V120G probably benign Het
Cux2 A C 5: 122,022,802 (GRCm39) probably benign Het
Dmrt2 T C 19: 25,656,026 (GRCm39) S542P probably damaging Het
Dnah7b A G 1: 46,316,286 (GRCm39) H3133R probably damaging Het
Drosha G A 15: 12,837,374 (GRCm39) R286Q unknown Het
Eipr1 A G 12: 28,816,784 (GRCm39) D47G probably damaging Het
Fras1 T G 5: 96,874,399 (GRCm39) Y2275D probably damaging Het
Grm4 C T 17: 27,670,865 (GRCm39) probably benign Het
Hebp1 A G 6: 135,129,918 (GRCm39) V100A possibly damaging Het
Hivep2 G A 10: 14,019,039 (GRCm39) V1937I possibly damaging Het
Hs3st6 T C 17: 24,977,168 (GRCm39) V216A probably damaging Het
Hsd17b4 T C 18: 50,324,851 (GRCm39) I688T probably benign Het
Hydin T C 8: 111,296,533 (GRCm39) probably null Het
Iws1 A G 18: 32,217,258 (GRCm39) E426G probably damaging Het
Klrb1f T C 6: 129,030,680 (GRCm39) S64P probably damaging Het
Lacc1 C T 14: 77,272,629 (GRCm39) G56R probably damaging Het
Lcmt2 A G 2: 120,969,377 (GRCm39) S569P probably benign Het
Lipm C T 19: 34,090,275 (GRCm39) probably benign Het
Lum A G 10: 97,404,471 (GRCm39) H122R probably damaging Het
Magi2 A G 5: 20,270,664 (GRCm39) Y15C probably damaging Het
Mal A T 2: 127,482,286 (GRCm39) I39N probably damaging Het
Mgme1 A G 2: 144,118,319 (GRCm39) H197R probably benign Het
Mmrn1 A T 6: 60,921,955 (GRCm39) K137N probably benign Het
Myh3 T A 11: 66,981,254 (GRCm39) C706S possibly damaging Het
Myo18b A T 5: 113,022,389 (GRCm39) probably benign Het
Myom1 A G 17: 71,352,744 (GRCm39) E356G possibly damaging Het
Nfib A G 4: 82,422,954 (GRCm39) probably benign Het
Npc1l1 T C 11: 6,173,076 (GRCm39) M788V probably benign Het
Or9a2 C T 6: 41,749,058 (GRCm39) M58I probably damaging Het
Pdha2 A G 3: 140,917,457 (GRCm39) V17A probably benign Het
Pgap1 A T 1: 54,525,617 (GRCm39) probably benign Het
Polr1a G T 6: 71,897,747 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Pramel20 A T 4: 143,297,878 (GRCm39) probably benign Het
Pramel21 A T 4: 143,342,559 (GRCm39) D222V possibly damaging Het
Prmt2 A T 10: 76,044,337 (GRCm39) V405D possibly damaging Het
Psg26 T A 7: 18,209,181 (GRCm39) Y409F probably benign Het
Psme3ip1 A G 8: 95,314,639 (GRCm39) F73S probably damaging Het
Ptges G T 2: 30,793,144 (GRCm39) Y29* probably null Het
Ptrhd1 A G 12: 4,286,399 (GRCm39) T97A probably benign Het
Ripk3 T A 14: 56,024,200 (GRCm39) probably benign Het
Rnf114 A T 2: 167,353,136 (GRCm39) I136F probably benign Het
Serinc5 A G 13: 92,844,497 (GRCm39) probably null Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc52a3 T A 2: 151,849,433 (GRCm39) L360* probably null Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Syt5 A G 7: 4,544,170 (GRCm39) V290A probably benign Het
Szt2 G A 4: 118,239,790 (GRCm39) A1931V unknown Het
Tasp1 A G 2: 139,793,378 (GRCm39) probably null Het
Tcp10a C A 17: 7,593,805 (GRCm39) D43E probably damaging Het
Tnfsf11 A T 14: 78,516,408 (GRCm39) Y187N probably benign Het
Tppp2 T A 14: 52,156,807 (GRCm39) N61K possibly damaging Het
Wwtr1 A T 3: 57,482,548 (GRCm39) W100R probably damaging Het
Zfp623 A G 15: 75,820,433 (GRCm39) D463G probably benign Het
Zfp990 A G 4: 145,263,174 (GRCm39) I57M probably damaging Het
Zmat5 G A 11: 4,672,413 (GRCm39) C10Y probably 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
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
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'- CAAAGCAGTGAGACCTTAGCCATCC -3'
(R):5'- AGCTGAACCATTGCCTGTCTACTTG -3'

Sequencing Primer
(F):5'- CTGGTGGCTTCCAGAGAAATAATC -3'
(R):5'- CATTGCCTGTCTACTTGATTCAAAG -3'
Posted On 2013-04-24