Incidental Mutation 'R1653:Slc32a1'
ID 188838
Institutional Source Beutler Lab
Gene Symbol Slc32a1
Ensembl Gene ENSMUSG00000037771
Gene Name solute carrier family 32 (GABA vesicular transporter), member 1
Synonyms Viaat, R75019, VGAT
MMRRC Submission 039689-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1653 (G1)
Quality Score 126
Status Not validated
Chromosome 2
Chromosomal Location 158610767-158615748 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 158614889 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 488 (H488L)
Ref Sequence ENSEMBL: ENSMUSP00000036299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045738]
AlphaFold O35633
Predicted Effect probably benign
Transcript: ENSMUST00000045738
AA Change: H488L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000036299
Gene: ENSMUSG00000037771
AA Change: H488L

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: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130019O22Rik G T 7: 127,384,480 (GRCm38) H483Q possibly damaging Het
Adam34 A T 8: 43,650,645 (GRCm38) C654* probably null Het
Adamts19 T A 18: 58,890,293 (GRCm38) N253K probably benign Het
Adgrb3 A G 1: 25,101,503 (GRCm38) L1162S probably benign Het
Ap2b1 T A 11: 83,346,831 (GRCm38) Y574N probably damaging Het
Atrn A G 2: 130,935,624 (GRCm38) I198V probably benign Het
Bcan T A 3: 87,994,196 (GRCm38) I400F probably damaging Het
Capn10 A G 1: 92,946,898 (GRCm38) Y617C probably damaging Het
Capn8 A G 1: 182,623,951 (GRCm38) N578D probably benign Het
Casd1 T C 6: 4,624,134 (GRCm38) L309P probably benign Het
Ccser1 T A 6: 61,311,465 (GRCm38) I204K probably benign Het
Cd276 T C 9: 58,537,449 (GRCm38) T80A probably benign Het
Cdh3 T C 8: 106,539,068 (GRCm38) S248P probably damaging Het
Celsr2 T C 3: 108,413,520 (GRCm38) T659A possibly damaging Het
Col6a4 C T 9: 106,072,409 (GRCm38) V676I probably damaging Het
Crmp1 T A 5: 37,286,468 (GRCm38) V575D probably damaging Het
Ep400 G A 5: 110,693,174 (GRCm38) Q1795* probably null Het
Gcnt3 A G 9: 70,035,077 (GRCm38) C70R probably damaging Het
Gm12258 T C 11: 58,858,287 (GRCm38) I96T possibly damaging Het
Gpr183 A G 14: 121,954,263 (GRCm38) F282S probably damaging Het
Igfals T C 17: 24,881,078 (GRCm38) V381A probably benign Het
Irs3 C A 5: 137,644,521 (GRCm38) L218F probably damaging Het
Kdm5b T C 1: 134,602,481 (GRCm38) F410S probably damaging Het
Klc4 T C 17: 46,631,859 (GRCm38) Y593C possibly damaging Het
Lce1h T A 3: 92,763,443 (GRCm38) Q134L unknown Het
Lyst T C 13: 13,635,226 (GRCm38) S494P probably damaging Het
March3 A G 18: 56,811,895 (GRCm38) M42T probably benign Het
Myh7 A G 14: 54,990,789 (GRCm38) I250T probably benign Het
N4bp1 G T 8: 86,844,948 (GRCm38) H807Q probably benign Het
Ndn C T 7: 62,348,508 (GRCm38) P34L probably benign Het
Nfs1 C T 2: 156,125,336 (GRCm38) G44D probably damaging Het
Nrg1 C T 8: 31,818,653 (GRCm38) R445H probably damaging Het
Olfr1507 A T 14: 52,490,772 (GRCm38) F64Y probably damaging Het
Olfr299 T C 7: 86,466,212 (GRCm38) V267A probably benign Het
Olfr683 T A 7: 105,143,870 (GRCm38) D141V possibly damaging Het
Pak7 C T 2: 136,116,887 (GRCm38) V94M probably damaging Het
Pdk1 G A 2: 71,888,995 (GRCm38) probably null Het
Sin3b G T 8: 72,741,519 (GRCm38) V290L probably benign Het
Sirt1 T C 10: 63,321,809 (GRCm38) T609A probably benign Het
Skint5 A T 4: 113,490,678 (GRCm38) S1289T unknown Het
Slc35b3 A G 13: 38,955,798 (GRCm38) S18P probably benign Het
Spaca7 T A 8: 12,586,501 (GRCm38) I109K possibly damaging Het
Tmem204 A G 17: 25,080,527 (GRCm38) L6P possibly damaging Het
Tubgcp6 G A 15: 89,107,442 (GRCm38) R651C probably damaging Het
Vps13b T A 15: 35,607,272 (GRCm38) L1117* probably null Het
Wdcp T C 12: 4,851,815 (GRCm38) L557P probably damaging Het
Wwp2 T C 8: 107,483,410 (GRCm38) F140S possibly damaging Het
Zfp429 C T 13: 67,389,924 (GRCm38) R467H possibly damaging Het
Zfp839 T A 12: 110,855,250 (GRCm38) M166K probably benign Het
Zfyve9 G A 4: 108,660,577 (GRCm38) Q1106* probably null Het
Zrsr1 T A 11: 22,974,158 (GRCm38) C311S probably damaging Het
Other mutations in Slc32a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0993:Slc32a1 UTSW 2 158,611,420 (GRCm38) missense possibly damaging 0.57
R1368:Slc32a1 UTSW 2 158,611,320 (GRCm38) missense probably benign
R1519:Slc32a1 UTSW 2 158,614,577 (GRCm38) missense probably damaging 0.97
R1632:Slc32a1 UTSW 2 158,613,890 (GRCm38) missense possibly damaging 0.89
R1822:Slc32a1 UTSW 2 158,611,378 (GRCm38) missense probably benign
R1957:Slc32a1 UTSW 2 158,614,043 (GRCm38) missense probably damaging 1.00
R3811:Slc32a1 UTSW 2 158,614,736 (GRCm38) missense possibly damaging 0.68
R3914:Slc32a1 UTSW 2 158,611,232 (GRCm38) start gained probably benign
R3949:Slc32a1 UTSW 2 158,611,232 (GRCm38) start gained probably benign
R4021:Slc32a1 UTSW 2 158,611,232 (GRCm38) start gained probably benign
R4850:Slc32a1 UTSW 2 158,614,192 (GRCm38) missense possibly damaging 0.92
R4953:Slc32a1 UTSW 2 158,614,057 (GRCm38) missense possibly damaging 0.76
R5292:Slc32a1 UTSW 2 158,611,387 (GRCm38) missense probably damaging 0.98
R5510:Slc32a1 UTSW 2 158,614,796 (GRCm38) missense probably damaging 1.00
R6431:Slc32a1 UTSW 2 158,611,537 (GRCm38) missense probably benign 0.06
R7072:Slc32a1 UTSW 2 158,611,496 (GRCm38) nonsense probably null
R7170:Slc32a1 UTSW 2 158,611,323 (GRCm38) missense probably damaging 0.97
R7350:Slc32a1 UTSW 2 158,614,406 (GRCm38) missense probably damaging 1.00
R8073:Slc32a1 UTSW 2 158,614,765 (GRCm38) missense probably damaging 1.00
R8194:Slc32a1 UTSW 2 158,613,841 (GRCm38) missense probably damaging 1.00
R8827:Slc32a1 UTSW 2 158,611,354 (GRCm38) missense probably damaging 0.96
R9374:Slc32a1 UTSW 2 158,614,075 (GRCm38) missense probably damaging 1.00
R9449:Slc32a1 UTSW 2 158,614,321 (GRCm38) missense probably benign 0.14
X0067:Slc32a1 UTSW 2 158,613,947 (GRCm38) missense possibly damaging 0.93
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- gtgggggcgggaatgac -3'
Posted On 2014-05-09