Incidental Mutation 'R6102:Slc18a2'
ID 485347
Institutional Source Beutler Lab
Gene Symbol Slc18a2
Ensembl Gene ENSMUSG00000025094
Gene Name solute carrier family 18 (vesicular monoamine), member 2
Synonyms Vmat2, 1110037L13Rik
MMRRC Submission 044252-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6102 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 59260878-59296012 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59293878 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 506 (Y506H)
Ref Sequence ENSEMBL: ENSMUSP00000026084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026084] [ENSMUST00000099274]
AlphaFold Q8BRU6
Predicted Effect probably benign
Transcript: ENSMUST00000026084
AA Change: Y506H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000026084
Gene: ENSMUSG00000025094
AA Change: Y506H

Pfam:MFS_1 22 428 6.8e-40 PFAM
Pfam:Sugar_tr 26 284 5.9e-10 PFAM
Pfam:MFS_2 127 457 4.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099274
SMART Domains Protein: ENSMUSP00000096880
Gene: ENSMUSG00000074746

transmembrane domain 2 24 N/A INTRINSIC
low complexity region 75 90 N/A INTRINSIC
PDZ 374 448 2.02e-10 SMART
low complexity region 582 596 N/A INTRINSIC
low complexity region 802 814 N/A INTRINSIC
C1 834 884 8.31e-8 SMART
coiled coil region 1021 1057 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 97% (65/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The vesicular monoamine transporter acts to accumulate cytosolic monoamines into synaptic vesicles, using the proton gradient maintained across the synaptic vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (summary by Peter et al., 1993 [PubMed 7905859]). See also SLC18A1 (MIM 193002).[supplied by OMIM, Jan 2011]
PHENOTYPE: Nullizygous mice exhibit early postnatal death accompanied by reduced body size, hypokinesia, and reduced brain monoamine levels. Hypomorphic mutants show impaired olfaction, gastroparesis, altered sleep latency, neuron degeneration, enhanced MPTP sensitivity, anxiety- and depressive-like behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e A G 11: 70,320,023 (GRCm38) I290T possibly damaging Het
Apeh T A 9: 108,086,439 (GRCm38) D559V probably damaging Het
Aspm T A 1: 139,477,459 (GRCm38) Y1361* probably null Het
Atad5 G T 11: 80,111,572 (GRCm38) probably null Het
Ccr4 C T 9: 114,496,493 (GRCm38) probably null Het
Clasrp G A 7: 19,586,468 (GRCm38) probably benign Het
Cldn23 A G 8: 35,825,551 (GRCm38) M261T probably benign Het
Cmya5 T C 13: 93,094,231 (GRCm38) M1450V probably benign Het
Cyp4v3 T A 8: 45,320,160 (GRCm38) E202V probably damaging Het
Dnah7a A T 1: 53,559,140 (GRCm38) V1412E probably benign Het
Dnah9 A G 11: 65,990,516 (GRCm38) S2578P probably damaging Het
Dsc2 T A 18: 20,047,108 (GRCm38) Y196F probably benign Het
Exoc1 T C 5: 76,537,779 (GRCm38) S113P probably damaging Het
Fbxo6 A T 4: 148,149,522 (GRCm38) I39N probably damaging Het
Frs3 C T 17: 47,702,671 (GRCm38) H173Y probably damaging Het
Ginm1 G T 10: 7,768,496 (GRCm38) T323K probably benign Het
Golgb1 T C 16: 36,912,865 (GRCm38) S825P probably damaging Het
Hs3st3b1 A T 11: 63,921,855 (GRCm38) C11* probably null Het
Ighv3-3 G C 12: 114,196,460 (GRCm38) A110G possibly damaging Het
Igkv6-20 G A 6: 70,335,869 (GRCm38) H107Y probably benign Het
Kcnj16 A G 11: 111,025,577 (GRCm38) E355G probably benign Het
Lig4 C T 8: 9,972,872 (GRCm38) G303S probably damaging Het
Map1b A C 13: 99,425,873 (GRCm38) V2443G unknown Het
Map3k6 T C 4: 133,247,131 (GRCm38) probably null Het
Mmp13 A G 9: 7,276,688 (GRCm38) Q261R probably benign Het
Mphosph9 T A 5: 124,297,709 (GRCm38) I554F possibly damaging Het
Mrgpra3 A T 7: 47,590,149 (GRCm38) F10I possibly damaging Het
Ms4a18 G A 19: 11,013,523 (GRCm38) T69I probably benign Het
Mtmr3 T C 11: 4,487,673 (GRCm38) N927S probably damaging Het
Necab1 T A 4: 14,989,211 (GRCm38) Q188L probably benign Het
Nfatc2 A G 2: 168,519,507 (GRCm38) probably benign Het
Olfr152 T C 2: 87,782,848 (GRCm38) F103L probably damaging Het
Olfr495 T C 7: 108,395,284 (GRCm38) S55P probably damaging Het
Olfr854 T C 9: 19,567,022 (GRCm38) M121V possibly damaging Het
Paip2b A C 6: 83,808,846 (GRCm38) V134G possibly damaging Het
Pax3 T C 1: 78,132,347 (GRCm38) T225A probably damaging Het
Pbx1 C A 1: 168,183,565 (GRCm38) A298S probably benign Het
Pcdhac2 A T 18: 37,146,282 (GRCm38) K772* probably null Het
Pcsk4 A T 10: 80,325,817 (GRCm38) Y163* probably null Het
Plcd3 A G 11: 103,080,644 (GRCm38) V58A probably damaging Het
Plek2 T A 12: 78,900,093 (GRCm38) T57S possibly damaging Het
Plscr2 C T 9: 92,287,668 (GRCm38) T57I probably benign Het
Ppp2r5b A G 19: 6,234,738 (GRCm38) S32P probably benign Het
Ppp3r2 C T 4: 49,682,022 (GRCm38) probably benign Het
Psme4 T A 11: 30,865,567 (GRCm38) L1693H probably damaging Het
Rrbp1 T A 2: 143,988,393 (GRCm38) Q618L probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,579,904 (GRCm38) probably benign Het
Rsrc1 C T 3: 66,994,649 (GRCm38) P44L unknown Het
Serpina3b A T 12: 104,134,169 (GRCm38) T337S probably benign Het
Slc9a9 A G 9: 94,936,429 (GRCm38) Y292C probably benign Het
Spta1 T C 1: 174,224,520 (GRCm38) V1840A probably benign Het
Ssb T C 2: 69,871,208 (GRCm38) *416Q probably null Het
Strada A G 11: 106,168,436 (GRCm38) V209A probably benign Het
Tbc1d31 A T 15: 57,936,093 (GRCm38) D225V probably damaging Het
Tgm4 T C 9: 123,056,535 (GRCm38) F381L probably benign Het
Tmem120b T A 5: 123,115,144 (GRCm38) Y203N probably damaging Het
Tmem176b A G 6: 48,835,934 (GRCm38) V109A probably benign Het
Tnfrsf11a C A 1: 105,819,946 (GRCm38) L201M possibly damaging Het
Ttn C A 2: 76,974,350 (GRCm38) probably null Het
Tubb2a T C 13: 34,075,343 (GRCm38) I155V probably benign Het
Vmn1r5 A G 6: 56,986,114 (GRCm38) D258G probably damaging Het
Vmn2r121 T C X: 124,133,575 (GRCm38) T120A probably benign Het
Vmn2r19 A T 6: 123,329,948 (GRCm38) I472F probably damaging Het
Vwa3a A G 7: 120,776,138 (GRCm38) probably null Het
Zfp273 A G 13: 67,822,347 (GRCm38) Y5C probably damaging Het
Zfp647 G A 15: 76,912,085 (GRCm38) P125L probably damaging Het
Zfp825 A G 13: 74,480,653 (GRCm38) L248P probably damaging Het
Other mutations in Slc18a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00837:Slc18a2 APN 19 59,284,384 (GRCm38) missense probably benign 0.02
IGL01956:Slc18a2 APN 19 59,287,176 (GRCm38) splice site probably benign
IGL02220:Slc18a2 APN 19 59,276,556 (GRCm38) missense probably benign 0.01
IGL02389:Slc18a2 APN 19 59,263,301 (GRCm38) splice site probably benign
IGL02795:Slc18a2 APN 19 59,274,490 (GRCm38) splice site probably benign
PIT4585001:Slc18a2 UTSW 19 59,293,861 (GRCm38) missense possibly damaging 0.47
R0373:Slc18a2 UTSW 19 59,287,367 (GRCm38) missense probably benign
R1972:Slc18a2 UTSW 19 59,274,653 (GRCm38) missense possibly damaging 0.89
R2018:Slc18a2 UTSW 19 59,276,505 (GRCm38) missense possibly damaging 0.90
R3508:Slc18a2 UTSW 19 59,273,557 (GRCm38) missense probably benign 0.03
R5313:Slc18a2 UTSW 19 59,293,843 (GRCm38) missense probably benign 0.04
R5574:Slc18a2 UTSW 19 59,261,405 (GRCm38) missense probably benign 0.09
R7569:Slc18a2 UTSW 19 59,284,152 (GRCm38) missense probably damaging 0.96
R7607:Slc18a2 UTSW 19 59,284,358 (GRCm38) missense probably benign 0.43
R7818:Slc18a2 UTSW 19 59,263,161 (GRCm38) missense probably benign
R8059:Slc18a2 UTSW 19 59,284,140 (GRCm38) missense probably benign 0.06
R8762:Slc18a2 UTSW 19 59,272,923 (GRCm38) missense probably benign 0.27
R8841:Slc18a2 UTSW 19 59,273,281 (GRCm38) missense probably damaging 1.00
R9110:Slc18a2 UTSW 19 59,293,894 (GRCm38) missense probably benign 0.01
R9230:Slc18a2 UTSW 19 59,273,215 (GRCm38) missense probably benign 0.04
R9368:Slc18a2 UTSW 19 59,274,359 (GRCm38) missense probably benign 0.22
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-08-16