Incidental Mutation 'R0256:Slc28a3'
ID 34751
Institutional Source Beutler Lab
Gene Symbol Slc28a3
Ensembl Gene ENSMUSG00000021553
Gene Name solute carrier family 28 (sodium-coupled nucleoside transporter), member 3
Synonyms Cnt3
MMRRC Submission 038487-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0256 (G1)
Quality Score 85
Status Validated
Chromosome 13
Chromosomal Location 58701121-58758691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58721314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 284 (T284A)
Ref Sequence ENSEMBL: ENSMUSP00000022036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022036]
AlphaFold Q9ERH8
Predicted Effect probably benign
Transcript: ENSMUST00000022036
AA Change: T284A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022036
Gene: ENSMUSG00000021553
AA Change: T284A

DomainStartEndE-ValueType
transmembrane domain 119 141 N/A INTRINSIC
transmembrane domain 146 163 N/A INTRINSIC
transmembrane domain 184 206 N/A INTRINSIC
Pfam:Nucleos_tra2_N 221 292 3.5e-27 PFAM
Pfam:Gate 300 401 4.9e-11 PFAM
Pfam:Nucleos_tra2_C 403 627 4.1e-83 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224906
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.6%
  • 10x: 95.8%
  • 20x: 92.8%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell surface receptors, and transport and metabolism of nucleoside drugs. SLC28A3 shows broad specificity for pyrimidine and purine nucleosides (Ritzel et al., 2001 [PubMed 11032837]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik G T 10: 29,098,252 (GRCm39) L186F probably damaging Het
Abce1 A C 8: 80,412,572 (GRCm39) probably null Het
Acvrl1 A T 15: 101,035,002 (GRCm39) N254Y probably damaging Het
Apip T A 2: 102,918,916 (GRCm39) M72K possibly damaging Het
Arg1 A G 10: 24,792,356 (GRCm39) Y188H probably benign Het
Armc3 A T 2: 19,274,027 (GRCm39) N354Y probably damaging Het
Arrdc5 A G 17: 56,601,382 (GRCm39) F248L probably damaging Het
Atp8b5 T C 4: 43,302,576 (GRCm39) probably benign Het
Bltp1 G T 3: 36,971,922 (GRCm39) V552L probably benign Het
Ccdc154 C T 17: 25,389,606 (GRCm39) A490V probably benign Het
Cdh6 T C 15: 13,053,868 (GRCm39) probably benign Het
Chmp2b G T 16: 65,337,078 (GRCm39) T193K probably benign Het
Clca3a1 A T 3: 144,436,640 (GRCm39) N814K probably damaging Het
Cmtr1 T C 17: 29,916,098 (GRCm39) L576P probably damaging Het
Fhl5 T C 4: 25,213,624 (GRCm39) H104R probably benign Het
Foxk1 A G 5: 142,439,436 (GRCm39) probably benign Het
Gm11596 T A 11: 99,683,542 (GRCm39) T193S unknown Het
Gm15217 A T 14: 46,617,853 (GRCm39) probably benign Het
Hic2 A G 16: 17,075,377 (GRCm39) I69V probably benign Het
Ivl T C 3: 92,479,150 (GRCm39) D305G probably damaging Het
Kcnn2 A G 18: 45,725,472 (GRCm39) T323A probably damaging Het
Krt7 C T 15: 101,321,190 (GRCm39) Q336* probably null Het
Krt73 T G 15: 101,710,371 (GRCm39) D121A probably damaging Het
Mok T C 12: 110,774,539 (GRCm39) D216G probably damaging Het
Muc17 A G 5: 137,175,539 (GRCm39) C44R probably damaging Het
Muc5b A G 7: 141,395,132 (GRCm39) Y46C unknown Het
Muc5b T C 7: 141,396,995 (GRCm39) F223L unknown Het
Noct A G 3: 51,157,895 (GRCm39) D411G probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5j1 T C 2: 86,879,400 (GRCm39) Y60C probably damaging Het
Or6c76b A T 10: 129,692,906 (GRCm39) D173V probably damaging Het
Pigv T C 4: 133,393,062 (GRCm39) H36R probably damaging Het
Plscr3 A G 11: 69,740,880 (GRCm39) K239E probably damaging Het
Prkag3 T C 1: 74,780,330 (GRCm39) D445G probably benign Het
Ramp1 A T 1: 91,124,641 (GRCm39) probably benign Het
Ror1 T A 4: 100,266,942 (GRCm39) H214Q probably benign Het
Selenbp2 A T 3: 94,607,008 (GRCm39) H156L probably benign Het
Slc35a1 T C 4: 34,668,962 (GRCm39) T284A probably benign Het
Smco2 A T 6: 146,763,244 (GRCm39) I184F probably damaging Het
Son A G 16: 91,453,472 (GRCm39) M740V possibly damaging Het
Stil T A 4: 114,880,882 (GRCm39) N475K possibly damaging Het
Sval3 A G 6: 41,949,839 (GRCm39) D122G probably damaging Het
Tnks A G 8: 35,328,701 (GRCm39) M623T probably benign Het
Zfp142 A G 1: 74,617,317 (GRCm39) V235A probably benign Het
Zfp423 A T 8: 88,500,262 (GRCm39) C1053* probably null Het
Zfp648 T A 1: 154,081,414 (GRCm39) D524E probably benign Het
Other mutations in Slc28a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Slc28a3 APN 13 58,722,114 (GRCm39) missense probably benign 0.05
IGL00432:Slc28a3 APN 13 58,717,225 (GRCm39) splice site probably null
IGL00553:Slc28a3 APN 13 58,710,823 (GRCm39) splice site probably null
IGL01725:Slc28a3 APN 13 58,726,324 (GRCm39) missense probably benign 0.30
IGL02068:Slc28a3 APN 13 58,706,411 (GRCm39) missense probably damaging 1.00
IGL02270:Slc28a3 APN 13 58,728,398 (GRCm39) missense probably benign 0.00
IGL02271:Slc28a3 APN 13 58,706,451 (GRCm39) missense probably benign 0.21
IGL02373:Slc28a3 APN 13 58,726,218 (GRCm39) critical splice donor site probably null
IGL02542:Slc28a3 APN 13 58,721,284 (GRCm39) missense probably damaging 1.00
IGL03242:Slc28a3 APN 13 58,722,063 (GRCm39) nonsense probably null
R0323:Slc28a3 UTSW 13 58,711,866 (GRCm39) nonsense probably null
R0391:Slc28a3 UTSW 13 58,717,229 (GRCm39) splice site probably benign
R0838:Slc28a3 UTSW 13 58,736,083 (GRCm39) missense probably benign 0.00
R1433:Slc28a3 UTSW 13 58,710,920 (GRCm39) missense probably damaging 1.00
R1437:Slc28a3 UTSW 13 58,706,389 (GRCm39) nonsense probably null
R3499:Slc28a3 UTSW 13 58,721,253 (GRCm39) splice site probably benign
R3822:Slc28a3 UTSW 13 58,706,092 (GRCm39) missense probably benign 0.00
R3948:Slc28a3 UTSW 13 58,710,824 (GRCm39) splice site probably null
R4011:Slc28a3 UTSW 13 58,714,064 (GRCm39) missense probably benign 0.06
R4028:Slc28a3 UTSW 13 58,758,570 (GRCm39) missense probably benign 0.27
R4073:Slc28a3 UTSW 13 58,707,104 (GRCm39) missense probably benign 0.01
R4745:Slc28a3 UTSW 13 58,722,077 (GRCm39) missense possibly damaging 0.69
R4939:Slc28a3 UTSW 13 58,706,395 (GRCm39) missense probably benign 0.44
R5416:Slc28a3 UTSW 13 58,724,607 (GRCm39) missense probably damaging 0.99
R5421:Slc28a3 UTSW 13 58,722,079 (GRCm39) missense possibly damaging 0.87
R5426:Slc28a3 UTSW 13 58,710,968 (GRCm39) missense probably damaging 1.00
R5688:Slc28a3 UTSW 13 58,706,463 (GRCm39) missense probably damaging 0.96
R6066:Slc28a3 UTSW 13 58,726,301 (GRCm39) missense probably benign 0.00
R6790:Slc28a3 UTSW 13 58,730,464 (GRCm39) missense probably benign 0.00
R6919:Slc28a3 UTSW 13 58,721,257 (GRCm39) critical splice donor site probably null
R7009:Slc28a3 UTSW 13 58,758,618 (GRCm39) missense probably benign 0.28
R7102:Slc28a3 UTSW 13 58,736,028 (GRCm39) missense probably benign 0.04
R7305:Slc28a3 UTSW 13 58,714,045 (GRCm39) missense possibly damaging 0.65
R7307:Slc28a3 UTSW 13 58,710,986 (GRCm39) missense probably damaging 1.00
R7464:Slc28a3 UTSW 13 58,710,835 (GRCm39) nonsense probably null
R7864:Slc28a3 UTSW 13 58,726,217 (GRCm39) critical splice donor site probably null
R7963:Slc28a3 UTSW 13 58,724,580 (GRCm39) missense probably damaging 1.00
R8477:Slc28a3 UTSW 13 58,724,609 (GRCm39) missense possibly damaging 0.60
R8758:Slc28a3 UTSW 13 58,720,424 (GRCm39) missense probably benign 0.01
R8833:Slc28a3 UTSW 13 58,707,077 (GRCm39) missense probably damaging 1.00
R8987:Slc28a3 UTSW 13 58,719,254 (GRCm39) splice site probably benign
R9127:Slc28a3 UTSW 13 58,724,581 (GRCm39) missense probably benign 0.00
R9566:Slc28a3 UTSW 13 58,758,653 (GRCm39) start gained probably benign
R9629:Slc28a3 UTSW 13 58,717,187 (GRCm39) nonsense probably null
R9789:Slc28a3 UTSW 13 58,724,664 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTGACATGGGATGCCCATAACTGAC -3'
(R):5'- CGCCTATGGCTTATTGGAGCCAAC -3'

Sequencing Primer
(F):5'- CATGCCAGGACAATTTGTGC -3'
(R):5'- GGGATGACTTAAACCAAGATTCTCAG -3'
Posted On 2013-05-09