Incidental Mutation 'R7170:Slc32a1'
ID 558171
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 045332-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7170 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 158452687-158457668 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 158453243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 28 (F28L)
Ref Sequence ENSEMBL: ENSMUSP00000036299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045738]
AlphaFold O35633
Predicted Effect probably damaging
Transcript: ENSMUST00000045738
AA Change: F28L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000036299
Gene: ENSMUSG00000037771
AA Change: F28L

DomainStartEndE-ValueType
Pfam:Aa_trans 114 513 9.4e-102 PFAM
Meta Mutation Damage Score 0.1730 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (81/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,836,654 (GRCm39) T1214A probably benign Het
Acte1 T C 7: 143,450,102 (GRCm39) S285P probably damaging Het
Adgrf5 G A 17: 43,757,029 (GRCm39) V708M possibly damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Ankrd7 T A 6: 18,868,389 (GRCm39) Y170* probably null Het
Aplp2 T C 9: 31,081,739 (GRCm39) D236G probably benign Het
Apoa5 T C 9: 46,181,437 (GRCm39) M171T probably benign Het
Bcas3 T C 11: 85,386,744 (GRCm39) V393A probably damaging Het
Ccdc47 T C 11: 106,093,304 (GRCm39) N370S probably benign Het
Cfap77 A T 2: 28,875,854 (GRCm39) Y85* probably null Het
Col4a3 G A 1: 82,693,630 (GRCm39) probably null Het
Crnn T A 3: 93,056,020 (GRCm39) S269T possibly damaging Het
Crocc2 G A 1: 93,121,704 (GRCm39) A618T possibly damaging Het
D030056L22Rik A G 19: 18,690,737 (GRCm39) K17R possibly damaging Het
Emx1 G A 6: 85,164,983 (GRCm39) G20D probably benign Het
Fabp3 A G 4: 130,207,763 (GRCm39) D88G probably benign Het
Fam124a A C 14: 62,824,629 (GRCm39) D41A probably damaging Het
Fanca T C 8: 123,997,945 (GRCm39) E1247G probably damaging Het
Fat3 T C 9: 15,917,870 (GRCm39) R1518G probably damaging Het
Fgf12 T C 16: 28,263,931 (GRCm39) I5V probably benign Het
Fscn2 C A 11: 120,253,335 (GRCm39) N267K probably damaging Het
Ftdc1 G T 16: 58,436,091 (GRCm39) C77* probably null Het
Fubp3 A G 2: 31,488,632 (GRCm39) T163A probably benign Het
Gask1a G T 9: 121,807,301 (GRCm39) A482S probably damaging Het
Gne A G 4: 44,040,361 (GRCm39) L601P possibly damaging Het
Gphn T C 12: 78,730,663 (GRCm39) V766A possibly damaging Het
Hsf1 G T 15: 76,384,221 (GRCm39) G402C probably damaging Het
Ift81 A T 5: 122,693,596 (GRCm39) Y604* probably null Het
Iqgap3 T A 3: 88,009,370 (GRCm39) I768N probably damaging Het
Kazald1 A T 19: 45,066,855 (GRCm39) D218V probably benign Het
Kmt2a T C 9: 44,722,018 (GRCm39) N3776D unknown Het
Ktn1 T C 14: 47,943,867 (GRCm39) L872S probably damaging Het
Lama3 T G 18: 12,537,133 (GRCm39) F259L probably benign Het
Mfsd6 A G 1: 52,701,547 (GRCm39) probably null Het
Mical3 A T 6: 120,950,694 (GRCm39) probably null Het
Mob3b A G 4: 35,083,839 (GRCm39) Y117H probably damaging Het
Mrpl2 G A 17: 46,959,181 (GRCm39) G95D probably damaging Het
Mstn A T 1: 53,105,554 (GRCm39) I299F probably damaging Het
Mta3 C T 17: 84,022,091 (GRCm39) R49W probably damaging Het
Mylk3 A G 8: 86,077,114 (GRCm39) F574L probably damaging Het
Naca T A 10: 127,875,990 (GRCm39) S341T unknown Het
Ncoa1 T C 12: 4,299,722 (GRCm39) D1401G probably benign Het
Nedd4 T A 9: 72,577,381 (GRCm39) Y69N probably benign Het
Nin T C 12: 70,091,013 (GRCm39) T801A Het
Nsd1 T A 13: 55,409,439 (GRCm39) L1336* probably null Het
Nudt16l2 C A 9: 105,020,600 (GRCm39) probably null Het
Oprk1 G A 1: 5,672,619 (GRCm39) R252H probably damaging Het
Or4c10b A T 2: 89,711,397 (GRCm39) T76S possibly damaging Het
Or4c10b A G 2: 89,711,185 (GRCm39) N5S probably benign Het
Or5w15 C T 2: 87,568,056 (GRCm39) G204D probably damaging Het
Pcdhga11 T C 18: 37,889,717 (GRCm39) F242L probably damaging Het
Pof1b A G X: 111,554,042 (GRCm39) I544T probably benign Het
Pold1 T C 7: 44,191,572 (GRCm39) H138R possibly damaging Het
Ptprd A T 4: 75,990,199 (GRCm39) D504E probably benign Het
Rabgap1l A G 1: 160,472,935 (GRCm39) V501A probably damaging Het
Rimklb T C 6: 122,429,697 (GRCm39) N233S probably benign Het
Rnf213 A G 11: 119,343,401 (GRCm39) I3589V Het
Rora T A 9: 69,280,472 (GRCm39) C348* probably null Het
Sdhaf3 T C 6: 6,956,043 (GRCm39) V6A probably benign Het
Serpina3m T A 12: 104,355,777 (GRCm39) L148Q probably damaging Het
Sik1 T C 17: 32,067,746 (GRCm39) D443G possibly damaging Het
Sim2 A G 16: 93,923,559 (GRCm39) T366A probably benign Het
Sorbs1 A T 19: 40,314,573 (GRCm39) Y746* probably null Het
Speer4b T A 5: 27,703,821 (GRCm39) N106I possibly damaging Het
Sphkap A G 1: 83,243,706 (GRCm39) S1269P probably damaging Het
Tcf4 T C 18: 69,766,649 (GRCm39) V205A probably damaging Het
Thsd7a C T 6: 12,352,090 (GRCm39) R1035H Het
Tmprss11c A T 5: 86,385,478 (GRCm39) probably null Het
Trim50 A G 5: 135,396,365 (GRCm39) T438A probably benign Het
Ttc21a C T 9: 119,774,607 (GRCm39) P287L probably damaging Het
Ttc41 C T 10: 86,549,367 (GRCm39) S187L probably benign Het
Ttll3 C T 6: 113,390,839 (GRCm39) P807L probably benign Het
Ttn A C 2: 76,597,696 (GRCm39) V19739G probably benign Het
Usp15 C A 10: 123,007,100 (GRCm39) C127F probably damaging Het
Vmn2r100 G T 17: 19,752,233 (GRCm39) A822S probably benign Het
Zan A T 5: 137,461,756 (GRCm39) V1141D unknown Het
Zfp457 A T 13: 67,442,241 (GRCm39) C111* probably null Het
Zfp758 C T 17: 22,594,116 (GRCm39) Q201* probably null Het
Zkscan2 T C 7: 123,099,030 (GRCm39) E54G possibly damaging 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
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
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
(F):5'- AAGAGCCAGACTGTCGTGAC -3'
(R):5'- TAATGAATGTCTCCCTCGACG -3'

Sequencing Primer
(F):5'- GGTCATGAGCCAGAGCG -3'
(R):5'- TCGACGGGAGCTTCTGC -3'
Posted On 2019-06-26