Incidental Mutation 'R7760:Slc6a5'
ID 597793
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 045816-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7760 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 49559894-49613604 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49596365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 612 (F612L)
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 benign
Transcript: ENSMUST00000056442
AA Change: F612L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: F612L

DomainStartEndE-ValueType
Pfam:SNF 185 734 1.6e-218 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107605
AA Change: F612L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: F612L

DomainStartEndE-ValueType
Pfam:SNF 185 734 1.6e-218 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207753
AA Change: F612L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000209172
Meta Mutation Damage Score 0.0792 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 C T 14: 25,873,251 (GRCm39) Q162* probably null Het
Arg1 T G 10: 24,803,361 (GRCm39) probably benign Het
Arl6 T C 16: 59,439,169 (GRCm39) D175G probably damaging Het
Capg A G 6: 72,534,769 (GRCm39) R199G probably damaging Het
Ceacam1 T A 7: 25,171,450 (GRCm39) E338V probably damaging Het
Clec4d A G 6: 123,247,300 (GRCm39) N148D probably benign Het
Ctr9 T G 7: 110,645,808 (GRCm39) I653R probably damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
Dnah7b T A 1: 46,240,413 (GRCm39) L1510Q probably damaging Het
Efcab5 T A 11: 77,042,752 (GRCm39) E136D probably benign Het
Elfn2 C T 15: 78,558,041 (GRCm39) A169T probably benign Het
Elp1 A G 4: 56,790,892 (GRCm39) V287A probably benign Het
Esrp2 T A 8: 106,860,102 (GRCm39) E326D probably benign Het
Fbrs T C 7: 127,088,572 (GRCm39) V718A probably damaging Het
Fbxl21 C T 13: 56,684,816 (GRCm39) R307C probably benign Het
Fbxl21 T C 13: 56,674,747 (GRCm39) S33P probably benign Het
Gatad2b C T 3: 90,261,776 (GRCm39) R461W probably damaging Het
Gm19410 T A 8: 36,269,491 (GRCm39) C1109S probably damaging Het
Gm6882 T A 7: 21,161,409 (GRCm39) D153V probably damaging Het
Golga3 A G 5: 110,353,716 (GRCm39) E918G probably benign Het
Greb1 T C 12: 16,773,417 (GRCm39) N219S probably benign Het
Grpel1 G T 5: 36,627,986 (GRCm39) R89L probably damaging Het
Ighv5-12 T A 12: 113,665,795 (GRCm39) Q101L probably benign Het
Ldb3 T A 14: 34,264,460 (GRCm39) N590I probably damaging Het
Man2c1 T C 9: 57,046,647 (GRCm39) V636A probably benign Het
Mblac2 G T 13: 81,859,996 (GRCm39) V117L probably benign Het
Muc6 T A 7: 141,237,322 (GRCm39) probably null Het
Nfatc3 A G 8: 106,834,973 (GRCm39) E773G possibly damaging Het
Ngef T C 1: 87,468,495 (GRCm39) D88G probably benign Het
Nipbl T C 15: 8,388,186 (GRCm39) E478G probably damaging Het
Or2t6 T C 14: 14,175,905 (GRCm38) Y59C probably damaging Het
Pbx4 C A 8: 70,285,445 (GRCm39) D29E probably benign Het
Pcdhgb5 A G 18: 37,864,690 (GRCm39) I162V not run Het
Pdcd11 G A 19: 47,101,637 (GRCm39) V941M possibly damaging Het
Pigr A T 1: 130,774,368 (GRCm39) R449S possibly damaging Het
Plcb2 T C 2: 118,541,869 (GRCm39) T914A probably benign Het
Ppp5c A G 7: 16,740,274 (GRCm39) S387P probably damaging Het
Rnf7l T C 10: 63,257,316 (GRCm39) K68R probably damaging Het
Rtkn2 T G 10: 67,841,439 (GRCm39) S196A probably damaging Het
Sec31a A G 5: 100,540,487 (GRCm39) F400L probably damaging Het
Senp7 A T 16: 55,959,442 (GRCm39) M251L probably benign Het
Slc7a9 T C 7: 35,156,500 (GRCm39) I314T possibly damaging Het
Smc5 A C 19: 23,213,254 (GRCm39) S553A probably benign Het
Spaca3 T A 11: 80,755,389 (GRCm39) V133D probably damaging Het
Taco1 T A 11: 105,963,938 (GRCm39) D232E possibly damaging Het
Tarbp1 C T 8: 127,179,546 (GRCm39) R664H not run Het
Tlk2 T C 11: 105,169,993 (GRCm39) I674T probably damaging Het
Tnxb A T 17: 34,931,911 (GRCm39) E2148V probably damaging Het
Tom1l2 T C 11: 60,165,791 (GRCm39) S59G probably benign Het
Traj46 A T 14: 54,409,813 (GRCm39) H7L Het
Traj46 T G 14: 54,409,814 (GRCm39) H7Q Het
Trav6-4 T A 14: 53,692,103 (GRCm39) L70Q possibly damaging Het
Trmt1l C T 1: 151,318,425 (GRCm39) T245I possibly damaging Het
Wac T A 18: 7,921,913 (GRCm39) C601S probably benign Het
Wnt3 T A 11: 103,702,266 (GRCm39) H145Q probably benign Het
Zfp948 T C 17: 21,808,628 (GRCm39) C607R 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
R7735:Slc6a5 UTSW 7 49,598,090 (GRCm39) critical splice donor site probably null
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'- CCAAGCACAGATTTCCCTAGTG -3'
(R):5'- CAAGGAGCTCATGACTGCAG -3'

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