Incidental Mutation 'R5112:Slc6a15'
ID 393947
Institutional Source Beutler Lab
Gene Symbol Slc6a15
Ensembl Gene ENSMUSG00000019894
Gene Name solute carrier family 6 (neurotransmitter transporter), member 15
Synonyms v7-3
MMRRC Submission 042700-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5112 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 103203644-103255238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103225087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 58 (D58E)
Ref Sequence ENSEMBL: ENSMUSP00000151517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074204] [ENSMUST00000179636] [ENSMUST00000217905]
AlphaFold Q8BG16
Predicted Effect probably benign
Transcript: ENSMUST00000074204
AA Change: D58E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: D58E

DomainStartEndE-ValueType
low complexity region 29 38 N/A INTRINSIC
Pfam:SNF 61 644 2.2e-229 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179636
AA Change: D58E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: D58E

DomainStartEndE-ValueType
low complexity region 29 38 N/A INTRINSIC
Pfam:SNF 61 644 2.2e-229 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217905
AA Change: D58E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219936
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. The encoded protein is thought to play a role in neuronal amino acid transport (PMID: 16185194) and may be associated with major depression (PMID: 21521612). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased synaptosome transport activities but exhibit no behavioral abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,328,383 (GRCm39) K846R probably damaging Het
Acsbg3 T A 17: 57,184,465 (GRCm39) M80K probably benign Het
Acsm5 A G 7: 119,136,502 (GRCm39) K358E possibly damaging Het
Adam26a A T 8: 44,021,893 (GRCm39) D532E probably benign Het
Adamts19 C T 18: 59,164,876 (GRCm39) R993* probably null Het
Akr1c13 A G 13: 4,244,151 (GRCm39) K68R possibly damaging Het
Amer3 T A 1: 34,626,157 (GRCm39) M132K possibly damaging Het
Ankrd2 A G 19: 42,028,326 (GRCm39) D38G possibly damaging Het
Ano7 G A 1: 93,325,085 (GRCm39) V546M possibly damaging Het
Aox1 G A 1: 58,349,254 (GRCm39) probably null Het
Apc T A 18: 34,449,162 (GRCm39) C1985* probably null Het
Astn1 C T 1: 158,484,763 (GRCm39) S15F possibly damaging Het
Atp13a4 A T 16: 29,228,686 (GRCm39) N950K possibly damaging Het
Bcl6 A G 16: 23,791,496 (GRCm39) V286A probably benign Het
Brox T A 1: 183,073,541 (GRCm39) T79S probably benign Het
C2cd3 A T 7: 100,092,692 (GRCm39) I512F possibly damaging Het
Camta1 A G 4: 151,158,511 (GRCm39) L542S probably damaging Het
Capn13 GCA G 17: 73,658,501 (GRCm39) probably null Het
Card10 C T 15: 78,686,580 (GRCm39) probably null Het
Cd96 A G 16: 45,919,301 (GRCm39) M240T probably benign Het
Cdc123 A G 2: 5,809,748 (GRCm39) L221P possibly damaging Het
Cdh19 A G 1: 110,882,354 (GRCm39) V46A possibly damaging Het
Clcn3 G A 8: 61,407,586 (GRCm39) H24Y probably benign Het
Col11a2 T C 17: 34,283,062 (GRCm39) probably benign Het
Cpsf3 A T 12: 21,341,785 (GRCm39) M50L probably benign Het
Csf3 T A 11: 98,593,749 (GRCm39) L197Q probably damaging Het
Ctsw T A 19: 5,516,285 (GRCm39) D196V probably damaging Het
Dcun1d3 A T 7: 119,457,250 (GRCm39) I154K probably damaging Het
Ddr1 T C 17: 35,993,377 (GRCm39) T877A probably benign Het
Dnah8 T A 17: 30,950,012 (GRCm39) L1944I probably benign Het
Dpf3 G T 12: 83,417,385 (GRCm39) S29* probably null Het
Ephb1 A G 9: 101,848,378 (GRCm39) I640T probably damaging Het
Fat1 G A 8: 45,477,319 (GRCm39) G2099S probably damaging Het
Fbxo41 G T 6: 85,454,906 (GRCm39) N667K probably damaging Het
Flacc1 T C 1: 58,698,441 (GRCm39) T326A probably benign Het
Gart A T 16: 91,430,933 (GRCm39) D376E probably benign Het
Glyr1 G A 16: 4,836,740 (GRCm39) Q475* probably null Het
Gm28051 G A 12: 102,686,430 (GRCm39) Q77* probably null Het
Gnmt C A 17: 47,037,256 (GRCm39) R176L probably damaging Het
Gpr176 A T 2: 118,110,629 (GRCm39) V210D possibly damaging Het
Gtf2ird1 A T 5: 134,431,038 (GRCm39) D339E probably damaging Het
Hmbox1 A G 14: 65,063,061 (GRCm39) Y372H probably damaging Het
Ier2 G T 8: 85,389,361 (GRCm39) A7E probably damaging Het
Il20ra A G 10: 19,634,691 (GRCm39) T311A possibly damaging Het
Il24 T C 1: 130,811,179 (GRCm39) probably null Het
Insl6 G A 19: 29,298,996 (GRCm39) Q139* probably null Het
Itga2b A T 11: 102,349,017 (GRCm39) I729K probably damaging Het
Itpr2 A T 6: 146,135,489 (GRCm39) M1814K possibly damaging Het
Klhl3 G A 13: 58,166,703 (GRCm39) S429F probably damaging Het
Lipo2 T C 19: 33,725,865 (GRCm39) N129S probably benign Het
Lrba C T 3: 86,132,678 (GRCm39) T28M probably benign Het
Ly86 G T 13: 37,559,013 (GRCm39) G71C probably damaging Het
Maob T C X: 16,582,662 (GRCm39) T400A probably benign Het
Mical2 A G 7: 111,919,818 (GRCm39) S443G probably damaging Het
Mmp17 A G 5: 129,679,229 (GRCm39) H376R possibly damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Myo7b T C 18: 32,116,640 (GRCm39) H989R probably damaging Het
Neil2 A G 14: 63,425,909 (GRCm39) W154R probably damaging Het
Nlrp12 G A 7: 3,289,613 (GRCm39) H300Y possibly damaging Het
Nlrp3 A T 11: 59,439,554 (GRCm39) Y377F probably damaging Het
Notch2 T C 3: 98,008,952 (GRCm39) probably null Het
Nudcd1 A T 15: 44,240,039 (GRCm39) C500* probably null Het
Or5b24 T C 19: 12,912,180 (GRCm39) V26A probably benign Het
Or5d37 A G 2: 87,923,353 (GRCm39) V309A probably damaging Het
Or8g18 A G 9: 39,149,717 (GRCm39) M1T probably null Het
Or8h9 A T 2: 86,789,698 (GRCm39) Y35N probably damaging Het
Pabpc6 T A 17: 9,888,540 (GRCm39) S4C probably damaging Het
Pan2 C T 10: 128,151,464 (GRCm39) R835* probably null Het
Parp9 G A 16: 35,784,683 (GRCm39) V346I probably damaging Het
Pcbp4 C T 9: 106,337,917 (GRCm39) T69M probably damaging Het
Pclo T A 5: 14,727,896 (GRCm39) probably benign Het
Phldb3 A T 7: 24,324,110 (GRCm39) I495F possibly damaging Het
Plce1 G T 19: 38,640,277 (GRCm39) V508F probably benign Het
Pmpca A T 2: 26,285,178 (GRCm39) I468F probably damaging Het
Pmpcb G A 5: 21,961,441 (GRCm39) R399H probably damaging Het
Ptprc A G 1: 138,022,037 (GRCm39) S544P probably damaging Het
Rev3l T A 10: 39,699,326 (GRCm39) D1274E probably benign Het
Ryr3 A T 2: 112,733,010 (GRCm39) V612E probably damaging Het
Scfd2 G T 5: 74,366,982 (GRCm39) H639Q probably benign Het
Sell T A 1: 163,892,887 (GRCm39) H34Q possibly damaging Het
Setd2 A G 9: 110,377,226 (GRCm39) D347G probably benign Het
Sgip1 G A 4: 102,726,966 (GRCm39) D81N probably damaging Het
Slc12a1 A T 2: 125,060,144 (GRCm39) I940F possibly damaging Het
Slc25a34 T A 4: 141,348,769 (GRCm39) I232L probably benign Het
Slc36a3 T A 11: 55,039,399 (GRCm39) K76N probably damaging Het
Slc6a7 T C 18: 61,140,448 (GRCm39) S195G probably null Het
Svep1 G A 4: 58,068,610 (GRCm39) Q3059* probably null Het
Syce1l A C 8: 114,378,274 (GRCm39) H56P probably damaging Het
Tbc1d2 A G 4: 46,606,503 (GRCm39) V814A probably damaging Het
Tbx18 T A 9: 87,597,740 (GRCm39) I265F probably damaging Het
Thbs2 T C 17: 14,890,852 (GRCm39) probably null Het
Ttll1 T C 15: 83,380,597 (GRCm39) H256R probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttyh2 A T 11: 114,587,583 (GRCm39) T195S probably benign Het
Unc119b A G 5: 115,263,553 (GRCm39) L217P probably damaging Het
Unc5a T C 13: 55,151,231 (GRCm39) probably null Het
Usp6nl A G 2: 6,425,714 (GRCm39) K152E probably benign Het
Vcam1 T C 3: 115,910,941 (GRCm39) R486G probably benign Het
Vmn2r1 A C 3: 63,997,544 (GRCm39) Q400P possibly damaging Het
Vmn2r80 T A 10: 79,030,292 (GRCm39) V706D possibly damaging Het
Vmn2r87 A T 10: 130,314,422 (GRCm39) L388Q probably damaging Het
Vwa3a A T 7: 120,383,208 (GRCm39) Y603F probably damaging Het
Zfp850 A T 7: 27,689,658 (GRCm39) C183* probably null Het
Other mutations in Slc6a15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Slc6a15 APN 10 103,225,002 (GRCm39) missense probably benign
IGL01320:Slc6a15 APN 10 103,240,606 (GRCm39) missense probably benign 0.00
IGL01924:Slc6a15 APN 10 103,240,686 (GRCm39) splice site probably null
IGL02066:Slc6a15 APN 10 103,252,519 (GRCm39) missense probably damaging 0.98
IGL02164:Slc6a15 APN 10 103,254,083 (GRCm39) missense probably benign 0.01
IGL02551:Slc6a15 APN 10 103,240,136 (GRCm39) splice site probably benign
IGL02744:Slc6a15 APN 10 103,253,894 (GRCm39) missense probably benign 0.03
R0028:Slc6a15 UTSW 10 103,252,541 (GRCm39) missense probably benign 0.00
R0143:Slc6a15 UTSW 10 103,253,929 (GRCm39) missense probably benign 0.02
R0158:Slc6a15 UTSW 10 103,225,208 (GRCm39) splice site probably benign
R0165:Slc6a15 UTSW 10 103,245,670 (GRCm39) missense probably null 0.04
R0349:Slc6a15 UTSW 10 103,254,086 (GRCm39) missense probably benign 0.06
R0383:Slc6a15 UTSW 10 103,253,914 (GRCm39) missense probably damaging 1.00
R0614:Slc6a15 UTSW 10 103,240,213 (GRCm39) nonsense probably null
R0784:Slc6a15 UTSW 10 103,252,661 (GRCm39) splice site probably benign
R0944:Slc6a15 UTSW 10 103,245,657 (GRCm39) missense probably benign 0.01
R1795:Slc6a15 UTSW 10 103,236,121 (GRCm39) missense probably benign
R1882:Slc6a15 UTSW 10 103,230,925 (GRCm39) missense probably benign 0.20
R2061:Slc6a15 UTSW 10 103,245,595 (GRCm39) missense probably benign 0.20
R2156:Slc6a15 UTSW 10 103,229,269 (GRCm39) missense probably damaging 1.00
R2358:Slc6a15 UTSW 10 103,252,646 (GRCm39) missense probably benign 0.00
R2849:Slc6a15 UTSW 10 103,240,552 (GRCm39) missense probably benign 0.01
R2921:Slc6a15 UTSW 10 103,254,248 (GRCm39) missense probably damaging 0.99
R3709:Slc6a15 UTSW 10 103,229,275 (GRCm39) missense probably benign 0.00
R4532:Slc6a15 UTSW 10 103,245,648 (GRCm39) missense possibly damaging 0.69
R4825:Slc6a15 UTSW 10 103,253,921 (GRCm39) missense probably benign 0.05
R4909:Slc6a15 UTSW 10 103,240,275 (GRCm39) missense probably damaging 1.00
R5320:Slc6a15 UTSW 10 103,244,067 (GRCm39) missense probably damaging 1.00
R5364:Slc6a15 UTSW 10 103,229,369 (GRCm39) missense probably damaging 0.99
R6305:Slc6a15 UTSW 10 103,225,031 (GRCm39) missense probably benign 0.31
R6348:Slc6a15 UTSW 10 103,240,228 (GRCm39) missense probably damaging 1.00
R6729:Slc6a15 UTSW 10 103,229,775 (GRCm39) missense probably damaging 0.99
R6781:Slc6a15 UTSW 10 103,230,928 (GRCm39) missense probably damaging 0.99
R7409:Slc6a15 UTSW 10 103,244,163 (GRCm39) missense probably benign
R7549:Slc6a15 UTSW 10 103,224,998 (GRCm39) missense probably benign
R7660:Slc6a15 UTSW 10 103,229,241 (GRCm39) splice site probably null
R7839:Slc6a15 UTSW 10 103,240,660 (GRCm39) missense probably benign
R7948:Slc6a15 UTSW 10 103,240,156 (GRCm39) missense possibly damaging 0.95
R8278:Slc6a15 UTSW 10 103,229,890 (GRCm39) critical splice donor site probably null
R8379:Slc6a15 UTSW 10 103,225,048 (GRCm39) missense probably benign 0.00
R8685:Slc6a15 UTSW 10 103,245,556 (GRCm39) missense possibly damaging 0.68
R8712:Slc6a15 UTSW 10 103,225,112 (GRCm39) missense probably damaging 1.00
R8719:Slc6a15 UTSW 10 103,240,176 (GRCm39) missense probably damaging 0.99
R8832:Slc6a15 UTSW 10 103,225,179 (GRCm39) missense probably damaging 1.00
R8940:Slc6a15 UTSW 10 103,229,357 (GRCm39) missense probably damaging 1.00
R8978:Slc6a15 UTSW 10 103,230,953 (GRCm39) nonsense probably null
R9050:Slc6a15 UTSW 10 103,252,516 (GRCm39) missense possibly damaging 0.88
R9113:Slc6a15 UTSW 10 103,236,140 (GRCm39) missense probably damaging 1.00
R9242:Slc6a15 UTSW 10 103,229,406 (GRCm39) nonsense probably null
R9493:Slc6a15 UTSW 10 103,229,277 (GRCm39) missense probably benign 0.35
R9529:Slc6a15 UTSW 10 103,240,583 (GRCm39) missense probably benign 0.14
R9532:Slc6a15 UTSW 10 103,240,333 (GRCm39) missense probably damaging 0.98
RF013:Slc6a15 UTSW 10 103,236,077 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAATGCCTAAGAATAGCAAAGTGG -3'
(R):5'- CCCTAGCTTTGTAATGGAATTCAC -3'

Sequencing Primer
(F):5'- TGCCTAAGAATAGCAAAGTGGTAAAG -3'
(R):5'- CTGAAATACAGGATTGCCCTTTACGG -3'
Posted On 2016-06-15