Incidental Mutation 'R0411:Slc6a5'
ID 36658
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 038613-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0411 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 49559894-49613604 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49561539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 24 (R24W)
Ref Sequence ENSEMBL: ENSMUSP00000146430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056442] [ENSMUST00000107605] [ENSMUST00000207753] [ENSMUST00000209172]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000056442
AA Change: R24W

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: R24W

DomainStartEndE-ValueType
Pfam:SNF 185 734 1.6e-218 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107605
AA Change: R24W

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: R24W

DomainStartEndE-ValueType
Pfam:SNF 185 734 1.6e-218 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207753
AA Change: R24W

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000209172
AA Change: R24W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.0964 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (66/68)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,053,834 (GRCm39) probably benign Het
6030469F06Rik A T 12: 31,234,730 (GRCm39) noncoding transcript Het
Acad11 T C 9: 103,993,495 (GRCm39) F541L probably damaging Het
Acin1 G T 14: 54,884,231 (GRCm39) R92S probably damaging Het
Appl1 A G 14: 26,662,213 (GRCm39) S490P probably benign Het
Aqp9 C A 9: 71,037,726 (GRCm39) V184L probably benign Het
Arih1 A T 9: 59,393,266 (GRCm39) I122N possibly damaging Het
Bmi1 T C 2: 18,687,983 (GRCm39) probably benign Het
Bmpr1a G A 14: 34,137,834 (GRCm39) T391I possibly damaging Het
Cacna1s A G 1: 136,041,041 (GRCm39) K1256E probably damaging Het
Cacng3 C T 7: 122,367,795 (GRCm39) P225L probably damaging Het
Cd101 A T 3: 100,925,843 (GRCm39) probably null Het
Cd55 A G 1: 130,390,294 (GRCm39) probably benign Het
Cenpe T C 3: 134,928,016 (GRCm39) I258T probably damaging Het
Cfap251 C T 5: 123,428,117 (GRCm39) T538M probably damaging Het
Cma2 A G 14: 56,211,135 (GRCm39) probably benign Het
Ddost T A 4: 138,036,964 (GRCm39) S176T probably benign Het
Ddx19b A T 8: 111,750,596 (GRCm39) probably null Het
Dmxl2 A G 9: 54,286,223 (GRCm39) I2681T probably damaging Het
Ern1 C T 11: 106,289,412 (GRCm39) E964K probably benign Het
Exoc1l G T 5: 76,648,334 (GRCm39) V47L possibly damaging Het
Galntl5 C T 5: 25,425,172 (GRCm39) R430C probably benign Het
Gga3 A G 11: 115,478,259 (GRCm39) L511P probably damaging Het
Gria2 C T 3: 80,618,165 (GRCm39) probably benign Het
Hmbs A T 9: 44,252,949 (GRCm39) L28* probably null Het
Iffo2 A G 4: 139,330,532 (GRCm39) E220G probably damaging Het
Ifi30 A G 8: 71,217,562 (GRCm39) probably benign Het
Irf2 T A 8: 47,299,096 (GRCm39) C297S probably benign Het
Izumo4 T C 10: 80,538,918 (GRCm39) Y94H probably damaging Het
Klhdc9 A G 1: 171,187,353 (GRCm39) V215A probably benign Het
Kmt2a T C 9: 44,731,261 (GRCm39) probably benign Het
Kmt2c A T 5: 25,580,955 (GRCm39) C513S probably damaging Het
Lyg1 A T 1: 37,988,977 (GRCm39) M81K possibly damaging Het
Maip1 T G 1: 57,454,852 (GRCm39) W279G probably damaging Het
Myo7a T C 7: 97,721,144 (GRCm39) T1263A probably benign Het
Naa15 T A 3: 51,373,060 (GRCm39) I701N possibly damaging Het
Ncoa3 A G 2: 165,910,463 (GRCm39) N1292S probably benign Het
Necab2 T A 8: 120,180,979 (GRCm39) probably benign Het
Nfatc1 T A 18: 80,741,257 (GRCm39) I234F possibly damaging Het
Olfm1 G A 2: 28,098,223 (GRCm39) R95K possibly damaging Het
Or10ag56 A G 2: 87,139,402 (GRCm39) T90A probably benign Het
Or10ak8 A T 4: 118,773,823 (GRCm39) N280K possibly damaging Het
Otoa T C 7: 120,755,750 (GRCm39) probably null Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Pard6g A G 18: 80,160,337 (GRCm39) D150G probably damaging Het
Pax5 A G 4: 44,609,783 (GRCm39) L215S probably damaging Het
Pja2 A T 17: 64,594,516 (GRCm39) probably benign Het
Plk4 T A 3: 40,765,654 (GRCm39) probably benign Het
Polr1a A T 6: 71,955,405 (GRCm39) H1687L possibly damaging Het
Ptcd2 G A 13: 99,479,899 (GRCm39) L41F probably damaging Het
Ropn1 T A 16: 34,490,334 (GRCm39) S62T probably benign Het
Setd1a T C 7: 127,395,223 (GRCm39) probably benign Het
Setdb1 T C 3: 95,234,997 (GRCm39) D902G probably damaging Het
Sik3 T A 9: 46,120,068 (GRCm39) L719Q probably damaging Het
Slc36a1 G T 11: 55,123,333 (GRCm39) V433F probably benign Het
Slc6a3 T C 13: 73,705,169 (GRCm39) V220A possibly damaging Het
Smox G T 2: 131,362,564 (GRCm39) R281L probably benign Het
Sulf2 G T 2: 165,935,436 (GRCm39) H226N probably damaging Het
Syne2 C T 12: 76,106,358 (GRCm39) probably null Het
Tenm3 C T 8: 48,740,826 (GRCm39) S1210N possibly damaging Het
Tns1 A T 1: 73,964,920 (GRCm39) V1237E probably damaging Het
Trf C T 9: 103,094,700 (GRCm39) V92M probably damaging Het
Ttn A G 2: 76,539,717 (GRCm39) V34423A possibly damaging Het
Vmn2r118 A G 17: 55,918,021 (GRCm39) probably benign Het
Vmn2r19 A G 6: 123,286,703 (GRCm39) Y112C probably damaging Het
Zfp326 G T 5: 106,026,641 (GRCm39) A15S possibly 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
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
R7735:Slc6a5 UTSW 7 49,598,090 (GRCm39) critical splice donor site probably null
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'- GCTTCTTCATGTCCCAGGATTACAGAC -3'
(R):5'- CTGCTGAGATTACAAAACCCTACTCCG -3'

Sequencing Primer
(F):5'- GTGCCTGGACCTGGAATG -3'
(R):5'- CATCCGCAGACTGGAAAGT -3'
Posted On 2013-05-09