Incidental Mutation 'R0446:Slc23a2'
ID 39353
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 038647-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0446 (G1)
Quality Score 212
Status Not validated
Chromosome 2
Chromosomal Location 131894416-131987028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131920353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 184 (K184R)
Ref Sequence ENSEMBL: ENSMUSP00000028815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028815]
AlphaFold Q9EPR4
Predicted Effect probably benign
Transcript: ENSMUST00000028815
AA Change: K184R

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000028815
Gene: ENSMUSG00000027340
AA Change: K184R

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,971,766 (GRCm39) T42A probably benign Het
Actr3b T A 5: 26,036,730 (GRCm39) I181K probably damaging Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
B3galt4 T C 17: 34,169,992 (GRCm39) E82G probably benign Het
Bag1 G A 4: 40,936,609 (GRCm39) T349I probably benign Het
Brip1 A T 11: 86,048,427 (GRCm39) L305Q probably damaging Het
Cdipt A G 7: 126,577,436 (GRCm39) T61A probably damaging Het
Cmya5 T A 13: 93,230,164 (GRCm39) R1641S probably benign Het
Cog7 T C 7: 121,536,295 (GRCm39) D515G probably benign Het
Cpsf4 T A 5: 145,114,054 (GRCm39) L171Q probably damaging Het
Cstpp1 G A 2: 91,135,109 (GRCm39) T20I possibly damaging Het
Cuzd1 A T 7: 130,918,009 (GRCm39) probably null Het
Dapk1 T A 13: 60,873,101 (GRCm39) probably null Het
Diaph1 A G 18: 37,986,643 (GRCm39) V1114A possibly damaging Het
Emx2 A T 19: 59,452,348 (GRCm39) K211* probably null Het
Fam170a T A 18: 50,413,699 (GRCm39) C55S possibly damaging Het
Fbxw26 A G 9: 109,572,788 (GRCm39) S119P probably benign Het
Fhip2a G A 19: 57,369,839 (GRCm39) D461N probably benign Het
Fryl G A 5: 73,254,760 (GRCm39) T894M possibly damaging Het
Gad1-ps C A 10: 99,281,383 (GRCm39) noncoding transcript Het
Gss T C 2: 155,409,665 (GRCm39) E257G probably benign Het
Klhdc1 A C 12: 69,330,082 (GRCm39) S404R probably benign Het
Kmt2e T A 5: 23,702,532 (GRCm39) probably null Het
Krt20 G A 11: 99,328,602 (GRCm39) Q108* probably null Het
Lmnb1 T A 18: 56,876,331 (GRCm39) S480T probably benign Het
Lyst T A 13: 13,812,633 (GRCm39) M1015K probably benign Het
Mdm1 T G 10: 117,987,961 (GRCm39) S290A probably benign Het
Mkln1 T A 6: 31,426,439 (GRCm39) F238I probably damaging Het
Mrgprb3 A G 7: 48,292,984 (GRCm39) V189A probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Neurod6 C T 6: 55,656,614 (GRCm39) E8K probably benign Het
Nlrp12 T C 7: 3,282,659 (GRCm39) I747V probably benign Het
Notch4 C T 17: 34,784,337 (GRCm39) R43W possibly damaging Het
Obscn A T 11: 58,886,238 (GRCm39) probably benign Het
Or10d3 A T 9: 39,461,747 (GRCm39) I140N probably damaging Het
Or5p57 A T 7: 107,665,932 (GRCm39) Y24* probably null Het
Or5w20 T C 2: 87,727,199 (GRCm39) Y219H possibly damaging Het
Or6ae1 A T 7: 139,742,384 (GRCm39) S160T probably damaging Het
Or6z5 T C 7: 6,478,024 (GRCm39) V305A probably benign Het
Or8b53 G T 9: 38,667,114 (GRCm39) L43F probably damaging Het
Orc5 C T 5: 22,751,455 (GRCm39) V85I probably benign Het
Pccb T C 9: 100,864,850 (GRCm39) D468G probably damaging Het
Pdzd2 A T 15: 12,375,110 (GRCm39) V1675E probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pltp A T 2: 164,696,320 (GRCm39) N97K probably damaging Het
Polr1a T C 6: 71,927,648 (GRCm39) probably null Het
Prss42 G A 9: 110,628,341 (GRCm39) V162I possibly damaging Het
Rbfox2 A T 15: 76,983,455 (GRCm39) Y269N probably damaging Het
Rftn2 A T 1: 55,253,354 (GRCm39) I83K probably damaging Het
S1pr4 A T 10: 81,334,823 (GRCm39) I217N probably damaging Het
Slc6a19 T C 13: 73,839,814 (GRCm39) N156S probably benign Het
Svep1 C T 4: 58,088,280 (GRCm39) G1723D probably damaging Het
Tbc1d32 T A 10: 56,068,994 (GRCm39) H358L possibly damaging Het
Tex55 G A 16: 38,649,064 (GRCm39) T15I probably benign Het
Tigit G T 16: 43,482,634 (GRCm39) N33K probably damaging Het
Tmem25 T C 9: 44,707,878 (GRCm39) Y139C probably damaging Het
Trmt13 G A 3: 116,376,275 (GRCm39) T372M probably damaging Het
Ubr2 A T 17: 47,294,224 (GRCm39) M303K probably damaging Het
Usp34 A G 11: 23,417,207 (GRCm39) E2952G probably damaging Het
Zan T A 5: 137,389,920 (GRCm39) I4851F unknown Het
Zfand4 C T 6: 116,265,015 (GRCm39) T160I probably benign Het
Zfp1005 A G 2: 150,109,993 (GRCm39) T228A 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
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'- CTGATGCAGCGAGAGAGTGACTATG -3'
(R):5'- TGTGCTGTCAGAGGTCTTCACAGAG -3'

Sequencing Primer
(F):5'- GCTTCATTGGCAAACAAGGTC -3'
(R):5'- CAGAGGTCTTCACAGAGTTTCTTTAC -3'
Posted On 2013-05-23