Incidental Mutation 'R0373:Slc18a2'
ID 30666
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 038579-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0373 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 59249328-59284444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59275799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 461 (I461L)
Ref Sequence ENSEMBL: ENSMUSP00000026084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026084]
AlphaFold Q8BRU6
Predicted Effect probably benign
Transcript: ENSMUST00000026084
AA Change: I461L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026084
Gene: ENSMUSG00000025094
AA Change: I461L

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.5%
Validation Efficiency
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik A T 3: 137,879,343 (GRCm39) L235Q probably damaging Het
Aadacl4fm4 A T 4: 144,412,790 (GRCm39) M50K possibly damaging Het
Adam6b T A 12: 113,454,275 (GRCm39) V364D probably benign Het
Akap13 T C 7: 75,259,677 (GRCm39) L767P probably benign Het
Akap13 T A 7: 75,380,248 (GRCm39) S2193T probably damaging Het
Anapc11 T C 11: 120,496,203 (GRCm39) V69A probably benign Het
Ankmy1 C T 1: 92,823,912 (GRCm39) R118Q probably damaging Het
Ankrd27 T C 7: 35,337,478 (GRCm39) S931P probably benign Het
Atp6v1c2 G A 12: 17,338,169 (GRCm39) R280C probably damaging Het
Bbs10 T A 10: 111,135,913 (GRCm39) I342N probably damaging Het
Calhm2 T C 19: 47,121,389 (GRCm39) D260G possibly damaging Het
Camk2a A G 18: 61,091,310 (GRCm39) E264G probably damaging Het
Ccdc146 T A 5: 21,524,543 (GRCm39) M270L probably benign Het
Cdc16 A G 8: 13,829,264 (GRCm39) T517A probably benign Het
Ces1g T C 8: 94,057,821 (GRCm39) H160R probably benign Het
Chst4 T C 8: 110,757,026 (GRCm39) N196S probably damaging Het
Ciz1 A T 2: 32,257,479 (GRCm39) N175Y probably damaging Het
Cyb5r4 G A 9: 86,909,093 (GRCm39) V57I probably damaging Het
Cyth3 A G 5: 143,670,181 (GRCm39) probably benign Het
Def6 A G 17: 28,439,154 (GRCm39) E255G probably damaging Het
Dhtkd1 T G 2: 5,916,681 (GRCm39) Q665P probably damaging Het
Dsg3 A C 18: 20,672,804 (GRCm39) D825A probably damaging Het
Eif3m T C 2: 104,835,345 (GRCm39) T242A probably benign Het
Emilin3 A G 2: 160,751,737 (GRCm39) F101L probably benign Het
Epha7 A G 4: 28,935,700 (GRCm39) probably null Het
Fbxo45 A T 16: 32,057,223 (GRCm39) Y224N probably damaging Het
Fhod3 A T 18: 25,223,161 (GRCm39) M836L possibly damaging Het
Fut4 C A 9: 14,662,506 (GRCm39) V263F probably damaging Het
Ggt1 C T 10: 75,415,104 (GRCm39) T206M probably benign Het
Gls T C 1: 52,227,858 (GRCm39) R79G probably damaging Het
Grhl1 T C 12: 24,631,514 (GRCm39) S156P probably benign Het
Ipo8 C T 6: 148,676,540 (GRCm39) S983N probably benign Het
Kcna7 C T 7: 45,058,868 (GRCm39) A385V probably damaging Het
Kpnb1 A T 11: 97,075,916 (GRCm39) L40Q probably damaging Het
Matn1 A T 4: 130,677,417 (GRCm39) S209C probably damaging Het
Mcc A G 18: 44,608,289 (GRCm39) I501T probably benign Het
Mdp1 A T 14: 55,896,832 (GRCm39) F104L probably damaging Het
Mib2 A T 4: 155,740,745 (GRCm39) N626K probably damaging Het
Mrgprh T C 17: 13,095,843 (GRCm39) S28P possibly damaging Het
Mup-ps23 T A 4: 61,774,386 (GRCm39) noncoding transcript Het
Myh15 A G 16: 49,003,322 (GRCm39) T1794A possibly damaging Het
Myo18a C G 11: 77,711,868 (GRCm39) P680A probably benign Het
Myom2 G T 8: 15,148,419 (GRCm39) D532Y possibly damaging Het
Ndufaf5 A G 2: 140,012,801 (GRCm39) N57S probably benign Het
Nectin3 C T 16: 46,278,550 (GRCm39) V282M probably damaging Het
Nup188 G T 2: 30,221,000 (GRCm39) D997Y probably damaging Het
Olfm3 T C 3: 114,916,454 (GRCm39) V462A probably damaging Het
Opcml A G 9: 28,724,694 (GRCm39) H164R possibly damaging Het
Or14a259 A T 7: 86,013,013 (GRCm39) C177* probably null Het
Or4c120 A T 2: 89,000,757 (GRCm39) F266L probably benign Het
Or8u9 A C 2: 86,002,050 (GRCm39) F37C probably damaging Het
Pacrg A G 17: 10,622,347 (GRCm39) I209T probably damaging Het
Pcf11 T C 7: 92,310,423 (GRCm39) M522V probably benign Het
Pck1 T A 2: 172,995,183 (GRCm39) M1K probably null Het
Pcm1 G T 8: 41,729,148 (GRCm39) E707* probably null Het
Pcsk5 G A 19: 17,632,213 (GRCm39) R318W probably damaging Het
Phf11d A T 14: 59,590,793 (GRCm39) M188K possibly damaging Het
Ppip5k2 A T 1: 97,668,262 (GRCm39) C615* probably null Het
Prkdc T A 16: 15,609,791 (GRCm39) S3132T probably damaging Het
Prl2c5 A T 13: 13,357,609 (GRCm39) probably benign Het
Prpsap2 A G 11: 61,631,826 (GRCm39) I177T possibly damaging Het
Rad50 A G 11: 53,541,346 (GRCm39) S1297P probably damaging Het
Rasip1 T A 7: 45,284,668 (GRCm39) N678K possibly damaging Het
Rubcn A G 16: 32,656,350 (GRCm39) S544P probably damaging Het
Rwdd2a A T 9: 86,456,453 (GRCm39) T210S possibly damaging Het
Scd2 A G 19: 44,291,479 (GRCm39) D306G probably damaging Het
Sema3b T C 9: 107,480,117 (GRCm39) N207S probably benign Het
Sf3b2 C T 19: 5,324,852 (GRCm39) D845N probably damaging Het
Sipa1l2 C A 8: 126,191,149 (GRCm39) C947F probably damaging Het
Slc12a1 A T 2: 125,067,951 (GRCm39) T1013S probably damaging Het
Slc1a6 C A 10: 78,637,756 (GRCm39) Y427* probably null Het
Slc30a4 A T 2: 122,531,319 (GRCm39) I231K probably damaging Het
Sos1 G T 17: 80,761,192 (GRCm39) A168D probably damaging Het
Spata31f1a T C 4: 42,851,161 (GRCm39) I332V probably benign Het
Sptb T C 12: 76,668,145 (GRCm39) S651G probably benign Het
Stk36 T C 1: 74,672,779 (GRCm39) L1007P probably damaging Het
Tek A T 4: 94,692,578 (GRCm39) N229Y probably damaging Het
Tep1 A G 14: 51,074,225 (GRCm39) F1887L possibly damaging Het
Tet1 A T 10: 62,713,988 (GRCm39) C602* probably null Het
Tnfrsf19 A G 14: 61,209,485 (GRCm39) S262P possibly damaging Het
Trim5 T C 7: 103,914,891 (GRCm39) I393V probably benign Het
Trpm6 A G 19: 18,830,951 (GRCm39) E1272G probably benign Het
Ttc21b A T 2: 66,018,670 (GRCm39) Y1246N probably damaging Het
Ttll3 T A 6: 113,375,738 (GRCm39) L151H probably damaging Het
U2surp C T 9: 95,366,496 (GRCm39) V470I probably benign Het
Ubr1 A T 2: 120,777,138 (GRCm39) Y276N probably benign Het
Uggt1 A G 1: 36,218,751 (GRCm39) S59P probably benign Het
Unc45a T C 7: 79,976,092 (GRCm39) T796A probably damaging Het
Unc5b C A 10: 60,614,719 (GRCm39) V193F possibly damaging Het
Upp1 G T 11: 9,079,590 (GRCm39) M50I probably benign Het
Vps18 C T 2: 119,124,386 (GRCm39) R438C probably damaging Het
Zfp715 T C 7: 42,948,760 (GRCm39) Y400C possibly damaging Het
Zfp955b T C 17: 33,521,496 (GRCm39) Y322H probably benign Het
Other mutations in Slc18a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00837:Slc18a2 APN 19 59,272,816 (GRCm39) missense probably benign 0.02
IGL01956:Slc18a2 APN 19 59,275,608 (GRCm39) splice site probably benign
IGL02220:Slc18a2 APN 19 59,264,988 (GRCm39) missense probably benign 0.01
IGL02389:Slc18a2 APN 19 59,251,733 (GRCm39) splice site probably benign
IGL02795:Slc18a2 APN 19 59,262,922 (GRCm39) splice site probably benign
PIT4585001:Slc18a2 UTSW 19 59,282,293 (GRCm39) missense possibly damaging 0.47
R1972:Slc18a2 UTSW 19 59,263,085 (GRCm39) missense possibly damaging 0.89
R2018:Slc18a2 UTSW 19 59,264,937 (GRCm39) missense possibly damaging 0.90
R3508:Slc18a2 UTSW 19 59,261,989 (GRCm39) missense probably benign 0.03
R5313:Slc18a2 UTSW 19 59,282,275 (GRCm39) missense probably benign 0.04
R5574:Slc18a2 UTSW 19 59,249,837 (GRCm39) missense probably benign 0.09
R6102:Slc18a2 UTSW 19 59,282,310 (GRCm39) missense probably benign 0.00
R7569:Slc18a2 UTSW 19 59,272,584 (GRCm39) missense probably damaging 0.96
R7607:Slc18a2 UTSW 19 59,272,790 (GRCm39) missense probably benign 0.43
R7818:Slc18a2 UTSW 19 59,251,593 (GRCm39) missense probably benign
R8059:Slc18a2 UTSW 19 59,272,572 (GRCm39) missense probably benign 0.06
R8762:Slc18a2 UTSW 19 59,261,355 (GRCm39) missense probably benign 0.27
R8841:Slc18a2 UTSW 19 59,261,713 (GRCm39) missense probably damaging 1.00
R9110:Slc18a2 UTSW 19 59,282,326 (GRCm39) missense probably benign 0.01
R9230:Slc18a2 UTSW 19 59,261,647 (GRCm39) missense probably benign 0.04
R9368:Slc18a2 UTSW 19 59,262,791 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- TGTGTATGCCATTGCAGATGTAGCC -3'
(R):5'- TCAGGACAACCTTCCAGGACCATAG -3'

Sequencing Primer
(F):5'- ATCGGTAAGAATACTGGCTTTCAGG -3'
(R):5'- CTAAGAAGGAGATATTGCTGCTTCTG -3'
Posted On 2013-04-24