Incidental Mutation 'R5720:Slc6a5'
ID 451407
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 043188-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5720 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 49559894-49613604 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 49606264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 724 (P724L)
Ref Sequence ENSEMBL: ENSMUSP00000146917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056442] [ENSMUST00000107605] [ENSMUST00000207753] [ENSMUST00000209172]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000056442
AA Change: P724L

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: P724L

DomainStartEndE-ValueType
Pfam:SNF 185 734 1.6e-218 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107605
AA Change: P724L

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: P724L

DomainStartEndE-ValueType
Pfam:SNF 185 734 1.6e-218 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000207753
AA Change: P724L

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000209172
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef10l AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA 4: 140,308,930 (GRCm39) probably benign Het
Cdh23 T C 10: 60,228,802 (GRCm39) T1125A possibly damaging Het
Cplane1 T A 15: 8,233,171 (GRCm39) N1165K probably benign Het
Ctf1 A T 7: 127,316,174 (GRCm39) probably null Het
Defb26 T C 2: 152,350,122 (GRCm39) N53D possibly damaging Het
Dhtkd1 T C 2: 5,907,825 (GRCm39) T787A probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxl7 A G 15: 26,552,979 (GRCm39) L96P probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gpr65 A T 12: 98,241,361 (GRCm39) S5C probably damaging Het
Greb1l G A 18: 10,542,427 (GRCm39) E1341K probably damaging Het
Itga8 G A 2: 12,115,898 (GRCm39) S76L probably damaging Het
Mpdz A T 4: 81,205,931 (GRCm39) F1810Y probably damaging Het
Nfrkb T C 9: 31,306,038 (GRCm39) L126P probably damaging Het
Or4a77 T C 2: 89,487,299 (GRCm39) Y162C probably benign Het
Primpol A G 8: 47,034,677 (GRCm39) V417A probably damaging Het
Pus1 C T 5: 110,925,584 (GRCm39) E79K probably damaging Het
Rspo2 C T 15: 43,033,210 (GRCm39) C4Y probably benign Het
Serpina12 T C 12: 104,004,563 (GRCm39) D23G probably benign Het
Serpind1 A T 16: 17,157,696 (GRCm39) R297S probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc17a6 C T 7: 51,275,145 (GRCm39) P68L probably damaging Het
Spaca7 A G 8: 12,649,004 (GRCm39) E166G possibly damaging Het
Supt5 A G 7: 28,021,993 (GRCm39) S345P probably damaging Het
Syne2 G A 12: 76,014,441 (GRCm39) D3211N probably benign Het
Tmem132e G A 11: 82,333,276 (GRCm39) probably null Het
Trappc14 A G 5: 138,261,964 (GRCm39) V44A probably benign Het
Zfp384 T C 6: 125,013,587 (GRCm39) S536P probably benign 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
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'- CCGTACGTGCGTGTTGAATG -3'
(R):5'- GCCTGATGATTGACTGGTCTC -3'

Sequencing Primer
(F):5'- CGTGTTGAATGAGTGAGTGAC -3'
(R):5'- TGGCAACTGGGATGACTTACTCAC -3'
Posted On 2017-01-03