Incidental Mutation 'IGL00763:Slc23a2'
ID 14061
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc23a2
Ensembl Gene ENSMUSG00000027340
Gene Name solute carrier family 23 (nucleobase transporters), member 2
Synonyms YSPL3, SVCT2, Slc23a1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00763
Quality Score
Status
Chromosome 2
Chromosomal Location 131894416-131987028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 131943420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 27 (A27E)
Ref Sequence ENSEMBL: ENSMUSP00000116640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028815] [ENSMUST00000128899]
AlphaFold Q9EPR4
Predicted Effect probably benign
Transcript: ENSMUST00000028815
AA Change: A27E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000028815
Gene: ENSMUSG00000027340
AA Change: A27E

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: ENSMUST00000121434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127724
Predicted Effect probably benign
Transcript: ENSMUST00000128899
AA Change: A27E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmp3 A C 5: 99,020,238 (GRCm39) R220S possibly damaging Het
Bms1 A G 6: 118,395,363 (GRCm39) probably benign Het
Ccdc138 T A 10: 58,411,537 (GRCm39) F635Y probably damaging Het
Ccdc81 T C 7: 89,518,823 (GRCm39) probably benign Het
Cntnap5a T C 1: 116,045,407 (GRCm39) I341T possibly damaging Het
Cog5 C T 12: 31,715,531 (GRCm39) probably benign Het
Dcaf4 G A 12: 83,586,107 (GRCm39) R358H probably damaging Het
Ddx10 A C 9: 53,071,326 (GRCm39) probably benign Het
Fgf15 T A 7: 144,453,629 (GRCm39) F201I probably damaging Het
Galp A G 7: 6,211,499 (GRCm39) Y40C probably damaging Het
Ints6 A G 14: 62,938,314 (GRCm39) probably benign Het
Iqcb1 A T 16: 36,676,649 (GRCm39) probably benign Het
Kif19a G A 11: 114,657,994 (GRCm39) V18I probably benign Het
Lypd8l T G 11: 58,503,707 (GRCm39) probably benign Het
Morc1 A C 16: 48,432,689 (GRCm39) Q719P probably damaging Het
Pla2g4a T C 1: 149,727,076 (GRCm39) D568G probably damaging Het
Plscr4 A G 9: 92,366,998 (GRCm39) E204G probably null Het
Rasgrf1 A G 9: 89,853,073 (GRCm39) T403A probably benign Het
Sec16b A G 1: 157,356,827 (GRCm39) T12A probably benign Het
Slc12a7 A T 13: 73,942,201 (GRCm39) N359I possibly damaging Het
Slc14a2 G T 18: 78,235,453 (GRCm39) D241E probably damaging Het
Slc38a8 T C 8: 120,220,958 (GRCm39) I200M probably benign Het
Thrap3 C T 4: 126,059,371 (GRCm39) G892S probably benign Het
Tmc6 A G 11: 117,669,872 (GRCm39) L20P probably damaging Het
Tnfsfm13 T C 11: 69,575,536 (GRCm39) D256G probably benign Het
Tonsl C T 15: 76,518,068 (GRCm39) A605T probably damaging Het
Usp28 A G 9: 48,939,463 (GRCm39) T240A probably benign Het
Zap70 A T 1: 36,818,333 (GRCm39) D340V possibly damaging Het
Zfp512b A T 2: 181,231,944 (GRCm39) F100I probably damaging Het
Other mutations in Slc23a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06