Incidental Mutation 'R4850:Slc32a1'
ID 373446
Institutional Source Beutler Lab
Gene Symbol Slc32a1
Ensembl Gene ENSMUSG00000037771
Gene Name solute carrier family 32 (GABA vesicular transporter), member 1
Synonyms Viaat, VGAT, R75019
MMRRC Submission 042462-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4850 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 158452687-158457668 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 158456112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 256 (F256L)
Ref Sequence ENSEMBL: ENSMUSP00000036299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045738]
AlphaFold O35633
Predicted Effect possibly damaging
Transcript: ENSMUST00000045738
AA Change: F256L

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036299
Gene: ENSMUSG00000037771
AA Change: F256L

Pfam:Aa_trans 114 513 9.4e-102 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145773
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155319
Meta Mutation Damage Score 0.5474 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 99% (79/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice been independently reported to die perinatally exhibiting a hunched posture, respiratory failure, cleft secondary palate due to failure of palate shelf elevation, umbilical hernia or omphalocele, and loss of neurotransmitter release in both GABAergic and glycinergic neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,709,429 (GRCm39) A42T probably benign Het
Acsf3 T C 8: 123,544,175 (GRCm39) V551A probably damaging Het
Adgrl2 G A 3: 148,564,656 (GRCm39) T304I probably damaging Het
Akr1d1 A G 6: 37,531,522 (GRCm39) probably null Het
Ankrd17 A T 5: 90,412,645 (GRCm39) H1226Q probably damaging Het
Arap1 T C 7: 101,047,998 (GRCm39) I847T probably damaging Het
Atad2b G A 12: 4,993,251 (GRCm39) G257S probably benign Het
Cand2 A T 6: 115,778,909 (GRCm39) T1158S probably benign Het
Cic G A 7: 24,972,327 (GRCm39) R686H probably damaging Het
Cldn1 T A 16: 26,181,913 (GRCm39) T99S probably benign Het
Cnga3 G T 1: 37,297,087 (GRCm39) E173* probably null Het
Cplane1 T C 15: 8,292,422 (GRCm39) S3012P unknown Het
Cryge G T 1: 65,090,211 (GRCm39) probably benign Het
Dsp T A 13: 38,376,445 (GRCm39) L1410H probably damaging Het
Dync2h1 T C 9: 7,134,364 (GRCm39) T1548A probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Eml5 T C 12: 98,756,878 (GRCm39) D1917G probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fn3krp A T 11: 121,315,879 (GRCm39) H90L possibly damaging Het
Garin2 A G 12: 78,761,927 (GRCm39) D197G probably damaging Het
Gm10718 A T 9: 3,023,716 (GRCm39) T56S probably benign Het
Gm4847 A T 1: 166,469,908 (GRCm39) I55K probably damaging Het
Gsn T A 2: 35,173,912 (GRCm39) probably null Het
H2bc11 G T 13: 22,227,421 (GRCm39) probably benign Het
Haghl T C 17: 26,001,980 (GRCm39) probably benign Het
Hmg20b T A 10: 81,182,761 (GRCm39) E139V probably damaging Het
Hsd3b6 G A 3: 98,715,221 (GRCm39) T57I probably benign Het
Igkv5-48 A G 6: 69,703,780 (GRCm39) S42P probably damaging Het
Igsf23 T C 7: 19,687,859 (GRCm39) probably benign Het
Kcnt1 T C 2: 25,798,112 (GRCm39) F874L probably damaging Het
Maf1 T C 15: 76,237,162 (GRCm39) F110L possibly damaging Het
Mtpap C T 18: 4,387,044 (GRCm39) R365W probably damaging Het
Mtus1 A C 8: 41,537,507 (GRCm39) S70A possibly damaging Het
Nfatc1 T A 18: 80,741,080 (GRCm39) T307S probably benign Het
Nphs1 T G 7: 30,162,657 (GRCm39) S379A possibly damaging Het
Nup205 A G 6: 35,207,465 (GRCm39) T1506A probably benign Het
Or13f5 T C 4: 52,825,450 (GRCm39) S18P possibly damaging Het
Or8u9 T A 2: 86,002,015 (GRCm39) I49F probably damaging Het
Pcdhga8 A T 18: 37,860,762 (GRCm39) Y606F probably damaging Het
Pde7a A G 3: 19,297,281 (GRCm39) V123A probably benign Het
Pex1 C T 5: 3,674,426 (GRCm39) T809I probably benign Het
Prdm13 C A 4: 21,678,243 (GRCm39) R749L possibly damaging Het
Prkcd A G 14: 30,321,700 (GRCm39) L498P probably damaging Het
Pros1 A T 16: 62,705,887 (GRCm39) E67V probably damaging Het
Rab44 A G 17: 29,359,063 (GRCm39) E417G possibly damaging Het
Rangrf A G 11: 68,864,466 (GRCm39) probably null Het
Rp1 T A 1: 4,418,898 (GRCm39) K738M probably damaging Het
Ryr2 A T 13: 11,683,706 (GRCm39) D3119E probably damaging Het
Ryr2 G A 13: 11,760,638 (GRCm39) R1482C probably damaging Het
Sbspon T A 1: 15,929,192 (GRCm39) T200S probably damaging Het
Sfxn5 T C 6: 85,309,358 (GRCm39) probably benign Het
Slc26a8 T A 17: 28,873,857 (GRCm39) I377F probably benign Het
Slc30a7 A G 3: 115,786,657 (GRCm39) F72L probably damaging Het
Slco6b1 T C 1: 96,839,558 (GRCm39) noncoding transcript Het
Smpd1 A G 7: 105,205,192 (GRCm39) H357R probably benign Het
Sncaip A T 18: 53,004,456 (GRCm39) H361L probably damaging Het
Tenm2 A C 11: 35,914,315 (GRCm39) Y2406* probably null Het
Terb1 T A 8: 105,212,057 (GRCm39) H308L probably benign Het
Trim61 A T 8: 65,466,070 (GRCm39) L397H probably damaging Het
Trp53bp1 T A 2: 121,035,594 (GRCm39) probably null Het
Ttn T G 2: 76,611,899 (GRCm39) E9007D possibly damaging Het
Urb1 A T 16: 90,592,302 (GRCm39) C319* probably null Het
Vmn2r95 T C 17: 18,671,915 (GRCm39) Y551H probably damaging Het
Vwde A T 6: 13,196,047 (GRCm39) V326D possibly damaging Het
Xdh A G 17: 74,205,330 (GRCm39) L1045P probably damaging Het
Zfp638 T C 6: 83,956,457 (GRCm39) I1688T possibly damaging Het
Zwint T A 10: 72,491,788 (GRCm39) probably benign Het
Other mutations in Slc32a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0993:Slc32a1 UTSW 2 158,453,340 (GRCm39) missense possibly damaging 0.57
R1368:Slc32a1 UTSW 2 158,453,240 (GRCm39) missense probably benign
R1519:Slc32a1 UTSW 2 158,456,497 (GRCm39) missense probably damaging 0.97
R1632:Slc32a1 UTSW 2 158,455,810 (GRCm39) missense possibly damaging 0.89
R1653:Slc32a1 UTSW 2 158,456,809 (GRCm39) missense probably benign 0.18
R1822:Slc32a1 UTSW 2 158,453,298 (GRCm39) missense probably benign
R1957:Slc32a1 UTSW 2 158,455,963 (GRCm39) missense probably damaging 1.00
R3811:Slc32a1 UTSW 2 158,456,656 (GRCm39) missense possibly damaging 0.68
R3914:Slc32a1 UTSW 2 158,453,152 (GRCm39) start gained probably benign
R3949:Slc32a1 UTSW 2 158,453,152 (GRCm39) start gained probably benign
R4021:Slc32a1 UTSW 2 158,453,152 (GRCm39) start gained probably benign
R4953:Slc32a1 UTSW 2 158,455,977 (GRCm39) missense possibly damaging 0.76
R5292:Slc32a1 UTSW 2 158,453,307 (GRCm39) missense probably damaging 0.98
R5510:Slc32a1 UTSW 2 158,456,716 (GRCm39) missense probably damaging 1.00
R6431:Slc32a1 UTSW 2 158,453,457 (GRCm39) missense probably benign 0.06
R7072:Slc32a1 UTSW 2 158,453,416 (GRCm39) nonsense probably null
R7170:Slc32a1 UTSW 2 158,453,243 (GRCm39) missense probably damaging 0.97
R7350:Slc32a1 UTSW 2 158,456,326 (GRCm39) missense probably damaging 1.00
R8073:Slc32a1 UTSW 2 158,456,685 (GRCm39) missense probably damaging 1.00
R8194:Slc32a1 UTSW 2 158,455,761 (GRCm39) missense probably damaging 1.00
R8827:Slc32a1 UTSW 2 158,453,274 (GRCm39) missense probably damaging 0.96
R9374:Slc32a1 UTSW 2 158,455,995 (GRCm39) missense probably damaging 1.00
R9449:Slc32a1 UTSW 2 158,456,241 (GRCm39) missense probably benign 0.14
X0067:Slc32a1 UTSW 2 158,455,867 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-03-01