Incidental Mutation 'R1519:Slc32a1'
ID 167248
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1519 (G1)
Quality Score 141
Status Not validated
Chromosome 2
Chromosomal Location 158452687-158457668 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 158456497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 384 (L384P)
Ref Sequence ENSEMBL: ENSMUSP00000036299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045738]
AlphaFold O35633
Predicted Effect probably damaging
Transcript: ENSMUST00000045738
AA Change: L384P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036299
Gene: ENSMUSG00000037771
AA Change: L384P

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik C G 10: 100,439,390 (GRCm39) P187R probably damaging Het
Abhd5 T C 9: 122,208,079 (GRCm39) probably null Het
Acadvl A G 11: 69,905,617 (GRCm39) probably null Het
Actn1 T C 12: 80,251,852 (GRCm39) E75G probably damaging Het
Adam4 A T 12: 81,467,651 (GRCm39) N323K possibly damaging Het
Anks6 G A 4: 47,027,152 (GRCm39) R689W probably damaging Het
Anxa2 T C 9: 69,392,523 (GRCm39) I124T probably damaging Het
Aph1c T C 9: 66,740,547 (GRCm39) T10A probably benign Het
Arhgap40 T A 2: 158,388,721 (GRCm39) W552R probably benign Het
Baz2b C T 2: 59,778,598 (GRCm39) R754H possibly damaging Het
Blmh A G 11: 76,857,607 (GRCm39) Y147C probably damaging Het
C1galt1 C T 6: 7,866,402 (GRCm39) L83F probably damaging Het
Ccdc168 A G 1: 44,096,130 (GRCm39) V1656A probably benign Het
Cdh23 A T 10: 60,215,122 (GRCm39) Y1403N possibly damaging Het
Cic A T 7: 24,993,235 (GRCm39) probably null Het
Coro1b T A 19: 4,200,583 (GRCm39) V200D possibly damaging Het
Csl T A 10: 99,593,817 (GRCm39) E416V probably damaging Het
Cyp3a25 A G 5: 145,938,257 (GRCm39) probably null Het
Dennd2d T A 3: 106,399,875 (GRCm39) F266Y probably damaging Het
Dnah10 A G 5: 124,838,016 (GRCm39) E1072G probably damaging Het
Dnah6 T A 6: 73,026,031 (GRCm39) K3435N probably damaging Het
Dnah9 G A 11: 65,772,587 (GRCm39) A3715V probably damaging Het
Fam186a G A 15: 99,845,536 (GRCm39) S236L unknown Het
Frs3 A G 17: 48,013,903 (GRCm39) T199A probably benign Het
Fsd1 A G 17: 56,300,870 (GRCm39) N243S probably benign Het
Gabra5 A C 7: 57,058,641 (GRCm39) L369R probably benign Het
Gask1b A G 3: 79,848,771 (GRCm39) N506D possibly damaging Het
Gins4 A G 8: 23,724,792 (GRCm39) V54A probably benign Het
Gli1 T C 10: 127,170,138 (GRCm39) E339G possibly damaging Het
Gm12185 A G 11: 48,798,594 (GRCm39) V633A probably damaging Het
Gpr83 T A 9: 14,779,493 (GRCm39) C182S probably null Het
Gspt1 A G 16: 11,038,719 (GRCm39) V627A probably damaging Het
Heatr1 T C 13: 12,427,040 (GRCm39) C722R probably benign Het
Jak1 C T 4: 101,020,119 (GRCm39) R680Q probably damaging Het
Kif2c A G 4: 117,027,137 (GRCm39) V287A probably damaging Het
Kmo C T 1: 175,479,184 (GRCm39) P240L possibly damaging Het
Kmo A G 1: 175,484,368 (GRCm39) E366G probably damaging Het
Lepr A T 4: 101,646,541 (GRCm39) N824I probably damaging Het
Lyrm7 T A 11: 54,739,425 (GRCm39) H75L possibly damaging Het
Map4k1 A T 7: 28,690,461 (GRCm39) Q351L probably benign Het
Matcap2 T G 9: 22,341,671 (GRCm39) L114R probably benign Het
Mgam T C 6: 40,638,617 (GRCm39) I450T probably benign Het
Nbeal2 A G 9: 110,465,373 (GRCm39) L955P probably damaging Het
Nlrp9c T C 7: 26,077,526 (GRCm39) K752R possibly damaging Het
Nsmaf A T 4: 6,438,062 (GRCm39) I70K probably benign Het
Or14a257 A G 7: 86,138,333 (GRCm39) M142T probably damaging Het
Or5ac19 C T 16: 59,089,307 (GRCm39) C241Y probably damaging Het
Otud7a A G 7: 63,408,391 (GRCm39) Y898C probably damaging Het
Pcdhb18 A C 18: 37,623,945 (GRCm39) D425A probably damaging Het
Prdm1 A T 10: 44,315,982 (GRCm39) L733* probably null Het
Prdm2 A T 4: 142,862,153 (GRCm39) I379N probably damaging Het
Ptprg A T 14: 12,220,596 (GRCm38) Y436F probably damaging Het
Riok3 A G 18: 12,270,363 (GRCm39) D167G probably damaging Het
Rnf215 G T 11: 4,085,451 (GRCm39) R60L probably damaging Het
Scart1 G A 7: 139,808,069 (GRCm39) V747I probably benign Het
Sdk1 A T 5: 141,985,705 (GRCm39) H779L probably benign Het
Serpine2 A G 1: 79,772,748 (GRCm39) F390L probably damaging Het
Sh3d21 T A 4: 126,045,519 (GRCm39) K387* probably null Het
Slc13a2 T C 11: 78,288,572 (GRCm39) Y568C possibly damaging Het
Slc27a5 T C 7: 12,722,386 (GRCm39) probably null Het
Sorcs1 T C 19: 50,241,025 (GRCm39) N454D probably benign Het
Spag8 T C 4: 43,652,777 (GRCm39) Y228C possibly damaging Het
Spata31e4 G A 13: 50,854,443 (GRCm39) probably null Het
Spc25 T C 2: 69,030,431 (GRCm39) I71V probably damaging Het
Tcte1 T A 17: 45,846,178 (GRCm39) F261I probably damaging Het
Thsd7a T A 6: 12,471,174 (GRCm39) K481N probably benign Het
Tll2 G T 19: 41,074,839 (GRCm39) N908K probably benign Het
Tmem236 T C 2: 14,197,091 (GRCm39) V93A probably benign Het
Top2b G A 14: 16,408,953 (GRCm38) probably null Het
Topaz1 G A 9: 122,596,076 (GRCm39) S949N probably benign Het
Triobp A G 15: 78,857,938 (GRCm39) T1180A probably benign Het
Trip11 A C 12: 101,852,419 (GRCm39) D548E probably benign Het
Trpv2 T A 11: 62,480,652 (GRCm39) probably null Het
Ulbp3 A G 10: 3,075,230 (GRCm39) noncoding transcript Het
Vmn1r12 T A 6: 57,136,540 (GRCm39) H212Q probably damaging Het
Vmn2r112 A G 17: 22,837,884 (GRCm39) T782A possibly damaging Het
Vmn2r7 A G 3: 64,623,876 (GRCm39) V239A possibly damaging Het
Vmn2r80 T A 10: 79,030,053 (GRCm39) N626K probably damaging Het
Vmn2r99 A G 17: 19,600,322 (GRCm39) S449G probably benign Het
Wfikkn2 T C 11: 94,128,933 (GRCm39) T403A probably benign Het
Xirp2 A G 2: 67,346,023 (GRCm39) I2755V probably benign Het
Yjefn3 A G 8: 70,341,729 (GRCm39) V153A probably benign Het
Zfp677 C A 17: 21,617,499 (GRCm39) H185Q possibly damaging Het
Zfp947 C T 17: 22,365,273 (GRCm39) V134I 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
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
R4850:Slc32a1 UTSW 2 158,456,112 (GRCm39) missense possibly damaging 0.92
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
(R):5'- gcgggaatgacggggag -3'
Posted On 2014-04-13