Incidental Mutation 'R7735:Slc6a5'
ID 596194
Institutional Source Beutler Lab
Gene Symbol Slc6a5
Ensembl Gene ENSMUSG00000039728
Gene Name solute carrier family 6 (neurotransmitter transporter, glycine), member 5
Synonyms Glyt2
MMRRC Submission 045791-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7735 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 49559894-49613604 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 49598090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000058699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056442] [ENSMUST00000107605] [ENSMUST00000207753] [ENSMUST00000209172]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000056442
SMART Domains Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728

DomainStartEndE-ValueType
Pfam:SNF 185 734 1.6e-218 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000107605
SMART Domains Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728

DomainStartEndE-ValueType
Pfam:SNF 185 734 1.6e-218 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000207753
Predicted Effect probably benign
Transcript: ENSMUST00000209172
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous mutant mice appear normal at birth but develop a complex neuromotor phenotype involving tremors, rigidity, and an impaired righting ability. Mutant mice die approximately 2 weeks after birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T C 15: 64,655,629 (GRCm39) T617A probably benign Het
Agl A T 3: 116,578,795 (GRCm39) I446N probably benign Het
Aox1 C T 1: 58,107,451 (GRCm39) P575L probably benign Het
Ap2m1 A T 16: 20,358,269 (GRCm39) I96F probably benign Het
Arhgap15 A G 2: 44,006,642 (GRCm39) D253G probably damaging Het
Arsa A T 15: 89,359,152 (GRCm39) C171* probably null Het
Arsb G T 13: 93,908,491 (GRCm39) R69L probably benign Het
Asb13 G A 13: 3,684,180 (GRCm39) probably null Het
Canx G T 11: 50,191,866 (GRCm39) D348E probably damaging Het
Cebpz C T 17: 79,233,342 (GRCm39) probably null Het
Ces2h A T 8: 105,741,127 (GRCm39) I40L probably benign Het
Cfhr4 A G 1: 139,660,039 (GRCm39) probably null Het
Csmd2 T C 4: 128,350,723 (GRCm39) probably null Het
Cxadr T A 16: 78,125,949 (GRCm39) N106K possibly damaging Het
Ddo T C 10: 40,507,770 (GRCm39) C56R probably benign Het
Dnah6 C T 6: 73,046,412 (GRCm39) G3192D probably damaging Het
Efcab3 T A 11: 104,962,465 (GRCm39) V49E probably benign Het
Epha10 T C 4: 124,807,472 (GRCm39) Y578H Het
Fbxw16 T C 9: 109,270,135 (GRCm39) D202G probably damaging Het
Gzf1 T C 2: 148,530,083 (GRCm39) V538A possibly damaging Het
Igha T A 12: 113,220,019 (GRCm39) probably benign Het
Iqce G T 5: 140,663,839 (GRCm39) Q457K probably benign Het
Kbtbd3 A G 9: 4,330,846 (GRCm39) K407E possibly damaging Het
Lipt1 A G 1: 37,914,703 (GRCm39) E253G probably damaging Het
Mrnip G A 11: 50,087,800 (GRCm39) W107* probably null Het
Mroh4 T C 15: 74,497,357 (GRCm39) T224A probably damaging Het
Ncoa2 A T 1: 13,218,661 (GRCm39) S1389R probably benign Het
Npffr2 A G 5: 89,731,173 (GRCm39) I368V probably benign Het
Nrdc C T 4: 108,895,182 (GRCm39) L469F probably damaging Het
Nup210l A T 3: 90,092,883 (GRCm39) Q1279L probably damaging Het
Or4k47 T A 2: 111,451,819 (GRCm39) N200I probably damaging Het
Or7e170 A G 9: 19,795,410 (GRCm39) Y64H probably damaging Het
Pcdha4 T G 18: 37,085,961 (GRCm39) I48S probably damaging Het
Pip5kl1 A G 2: 32,469,101 (GRCm39) Y211C possibly damaging Het
Prrt4 A T 6: 29,170,035 (GRCm39) S806T possibly damaging Het
Ptpn20 T A 14: 33,352,902 (GRCm39) Y214N probably damaging Het
Ptprt A T 2: 161,417,661 (GRCm39) N938K probably damaging Het
Scn2a G T 2: 65,594,013 (GRCm39) V1621L probably benign Het
Senp3 A G 11: 69,569,087 (GRCm39) I358T probably damaging Het
Sf3b1 A T 1: 55,042,508 (GRCm39) S461T probably benign Het
Slc22a2 C T 17: 12,828,917 (GRCm39) T341I probably damaging Het
Slc38a7 A T 8: 96,568,295 (GRCm39) D363E probably benign Het
Smo T A 6: 29,759,851 (GRCm39) V650E probably damaging Het
Spata17 G A 1: 186,872,577 (GRCm39) T31I unknown Het
Sstr2 T A 11: 113,515,423 (GRCm39) I114N possibly damaging Het
Styxl1 T C 5: 135,788,023 (GRCm39) Y146C probably damaging Het
Synpo2l T C 14: 20,711,243 (GRCm39) Q688R possibly damaging Het
Tmem245 C T 4: 56,925,155 (GRCm39) R322H probably benign Het
Tnxb A G 17: 34,890,398 (GRCm39) E247G unknown Het
Ttc28 A T 5: 111,414,544 (GRCm39) probably null Het
Ttn A T 2: 76,718,416 (GRCm39) I7255N unknown Het
Ttn C A 2: 76,652,768 (GRCm39) probably null Het
Unc13b C T 4: 43,165,791 (GRCm39) R204C probably damaging Het
Utrn A G 10: 12,619,787 (GRCm39) probably null Het
Vps53 A T 11: 75,937,962 (GRCm39) F753I probably damaging Het
Ypel1 G T 16: 16,918,124 (GRCm39) S97R probably benign Het
Zdbf2 A G 1: 63,343,264 (GRCm39) T548A possibly damaging Het
Zfp747 G A 7: 126,973,672 (GRCm39) T166M probably damaging Het
Other mutations in Slc6a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01373:Slc6a5 APN 7 49,567,481 (GRCm39) missense probably benign 0.35
IGL01821:Slc6a5 APN 7 49,564,601 (GRCm39) intron probably benign
R0084:Slc6a5 UTSW 7 49,579,761 (GRCm39) missense probably benign 0.01
R0266:Slc6a5 UTSW 7 49,588,156 (GRCm39) splice site probably benign
R0411:Slc6a5 UTSW 7 49,561,539 (GRCm39) missense probably damaging 1.00
R0621:Slc6a5 UTSW 7 49,567,113 (GRCm39) splice site probably null
R1649:Slc6a5 UTSW 7 49,586,010 (GRCm39) missense probably damaging 1.00
R1822:Slc6a5 UTSW 7 49,606,173 (GRCm39) missense probably benign 0.00
R1889:Slc6a5 UTSW 7 49,601,182 (GRCm39) missense probably benign 0.03
R2084:Slc6a5 UTSW 7 49,598,002 (GRCm39) missense probably benign 0.14
R2098:Slc6a5 UTSW 7 49,595,315 (GRCm39) missense probably damaging 1.00
R2365:Slc6a5 UTSW 7 49,596,284 (GRCm39) missense possibly damaging 0.93
R2516:Slc6a5 UTSW 7 49,606,210 (GRCm39) missense probably benign 0.00
R3622:Slc6a5 UTSW 7 49,567,371 (GRCm39) missense probably benign 0.16
R3752:Slc6a5 UTSW 7 49,586,062 (GRCm39) critical splice donor site probably null
R3848:Slc6a5 UTSW 7 49,577,306 (GRCm39) splice site probably benign
R3917:Slc6a5 UTSW 7 49,561,617 (GRCm39) missense probably damaging 1.00
R4617:Slc6a5 UTSW 7 49,561,768 (GRCm39) missense probably benign 0.00
R4663:Slc6a5 UTSW 7 49,588,146 (GRCm39) nonsense probably null
R4757:Slc6a5 UTSW 7 49,609,030 (GRCm39) missense probably benign 0.15
R4916:Slc6a5 UTSW 7 49,598,004 (GRCm39) missense probably benign 0.00
R5183:Slc6a5 UTSW 7 49,585,957 (GRCm39) missense probably damaging 0.97
R5257:Slc6a5 UTSW 7 49,579,740 (GRCm39) missense probably damaging 0.98
R5512:Slc6a5 UTSW 7 49,591,573 (GRCm39) missense probably damaging 1.00
R5537:Slc6a5 UTSW 7 49,609,059 (GRCm39) missense probably benign 0.03
R5558:Slc6a5 UTSW 7 49,577,321 (GRCm39) missense probably benign
R5627:Slc6a5 UTSW 7 49,561,522 (GRCm39) missense possibly damaging 0.85
R5655:Slc6a5 UTSW 7 49,606,218 (GRCm39) missense probably benign
R5720:Slc6a5 UTSW 7 49,606,264 (GRCm39) missense possibly damaging 0.86
R5736:Slc6a5 UTSW 7 49,609,102 (GRCm39) missense probably benign 0.03
R5817:Slc6a5 UTSW 7 49,606,239 (GRCm39) missense probably benign 0.00
R5879:Slc6a5 UTSW 7 49,595,260 (GRCm39) missense probably damaging 1.00
R6033:Slc6a5 UTSW 7 49,609,099 (GRCm39) missense probably benign 0.01
R6033:Slc6a5 UTSW 7 49,609,099 (GRCm39) missense probably benign 0.01
R6072:Slc6a5 UTSW 7 49,561,943 (GRCm39) missense probably damaging 1.00
R6157:Slc6a5 UTSW 7 49,601,250 (GRCm39) missense probably benign 0.03
R6172:Slc6a5 UTSW 7 49,598,081 (GRCm39) nonsense probably null
R6414:Slc6a5 UTSW 7 49,559,991 (GRCm39) unclassified probably benign
R7348:Slc6a5 UTSW 7 49,559,915 (GRCm39) unclassified probably benign
R7381:Slc6a5 UTSW 7 49,579,804 (GRCm39) missense probably damaging 1.00
R7486:Slc6a5 UTSW 7 49,567,078 (GRCm39) missense possibly damaging 0.81
R7624:Slc6a5 UTSW 7 49,591,614 (GRCm39) missense probably benign 0.00
R7760:Slc6a5 UTSW 7 49,596,365 (GRCm39) missense probably benign 0.03
R8174:Slc6a5 UTSW 7 49,598,057 (GRCm39) missense probably benign 0.39
R8219:Slc6a5 UTSW 7 49,561,911 (GRCm39) missense probably benign
R8496:Slc6a5 UTSW 7 49,585,960 (GRCm39) missense probably damaging 1.00
R8786:Slc6a5 UTSW 7 49,561,843 (GRCm39) missense possibly damaging 0.48
R9300:Slc6a5 UTSW 7 49,601,175 (GRCm39) missense probably damaging 0.97
R9400:Slc6a5 UTSW 7 49,595,267 (GRCm39) missense probably benign 0.44
R9401:Slc6a5 UTSW 7 49,601,185 (GRCm39) missense probably damaging 0.98
R9557:Slc6a5 UTSW 7 49,561,474 (GRCm39) missense probably benign 0.00
R9646:Slc6a5 UTSW 7 49,567,496 (GRCm39) nonsense probably null
Z1088:Slc6a5 UTSW 7 49,561,605 (GRCm39) missense probably benign 0.40
Predicted Primers PCR Primer
(F):5'- TATAGTCTCTGCTGTGGACCAG -3'
(R):5'- AAGATTCACAGTCAGGCACC -3'

Sequencing Primer
(F):5'- AGGACTCTGACCCTGCTG -3'
(R):5'- GATTCACAGTCAGGCACCTTTGG -3'
Posted On 2019-11-26