Incidental Mutation 'R5537:Slc6a5'
ID 434876
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 043095-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5537 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 49559894-49613604 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49609059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 755 (F755L)
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 probably benign
Transcript: ENSMUST00000056442
AA Change: F755L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: F755L

DomainStartEndE-ValueType
Pfam:SNF 185 734 1.6e-218 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107605
AA Change: F755L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: F755L

DomainStartEndE-ValueType
Pfam:SNF 185 734 1.6e-218 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207753
AA Change: F755L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000209172
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 9,005,485 (GRCm39) I1123F probably damaging Het
Acsl3 C T 1: 78,684,073 (GRCm39) R702C probably damaging Het
Ank1 A G 8: 23,604,892 (GRCm39) E1031G probably damaging Het
Ankle2 T C 5: 110,397,361 (GRCm39) S536P probably damaging Het
Arfgef2 G T 2: 166,698,513 (GRCm39) probably null Het
Bahd1 G T 2: 118,746,461 (GRCm39) D27Y probably damaging Het
Brinp2 C T 1: 158,082,583 (GRCm39) V246I probably damaging Het
Ccdc187 C A 2: 26,166,237 (GRCm39) A731S probably benign Het
Cdc37l1 T A 19: 28,972,518 (GRCm39) N70K probably damaging Het
Cdk5r1 A G 11: 80,368,825 (GRCm39) Y164C probably damaging Het
Clrn3 A T 7: 135,115,791 (GRCm39) H186Q probably benign Het
Col12a1 G A 9: 79,606,872 (GRCm39) T517I probably damaging Het
Crhr1 T A 11: 104,054,682 (GRCm39) N98K possibly damaging Het
Dst C T 1: 34,228,959 (GRCm39) S2362L probably benign Het
Eapp G A 12: 54,738,844 (GRCm39) T98I probably benign Het
Iqsec3 T C 6: 121,389,603 (GRCm39) probably benign Het
Kctd12 A G 14: 103,219,713 (GRCm39) V55A probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lgr5 T C 10: 115,292,594 (GRCm39) D432G probably benign Het
Mrgprx1 T A 7: 47,670,898 (GRCm39) H283L probably benign Het
Nlrp4e T C 7: 23,019,914 (GRCm39) F134L probably benign Het
Or1e34 T C 11: 73,778,523 (GRCm39) K225R probably benign Het
Or4f14b A T 2: 111,775,393 (GRCm39) M136K probably damaging Het
Or5m5 T A 2: 85,814,570 (GRCm39) Y129N possibly damaging Het
Or8b43 T A 9: 38,360,538 (GRCm39) Y123* probably null Het
Pfkp C A 13: 6,669,278 (GRCm39) W235L probably damaging Het
Prom1 C T 5: 44,158,118 (GRCm39) probably null Het
Psma5-ps A G 10: 85,149,913 (GRCm39) noncoding transcript Het
Rab14 A T 2: 35,082,649 (GRCm39) F12L possibly damaging Het
Rnf40 T A 7: 127,195,261 (GRCm39) I429N probably benign Het
S100pbp G A 4: 129,075,981 (GRCm39) P115S probably benign Het
Scarf1 G A 11: 75,416,357 (GRCm39) A600T probably damaging Het
Slc7a2 A T 8: 41,367,023 (GRCm39) I510F probably benign Het
Spag16 T C 1: 69,866,175 (GRCm39) S5P probably benign Het
Tex15 A G 8: 34,061,641 (GRCm39) Y631C probably damaging Het
Tmem182 A T 1: 40,894,069 (GRCm39) I195F probably benign Het
Tox A G 4: 6,697,510 (GRCm39) L431P probably damaging Het
Tprn G A 2: 25,153,369 (GRCm39) A224T probably benign Het
Tsg101 T C 7: 46,540,876 (GRCm39) K294E probably benign Het
Tubb2a C A 13: 34,259,434 (GRCm39) V119L probably benign Het
Vps37d C T 5: 135,103,256 (GRCm39) E129K possibly damaging Het
Zfp974 TAATCTGTCTCCAAATCTG TAATCTG 7: 27,611,671 (GRCm39) probably benign Het
Zpld1 A G 16: 55,054,003 (GRCm39) V263A 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
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
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'- AGGGGCTCTTGACTTCAGTG -3'
(R):5'- ACACTCTCATGCACAGCTG -3'

Sequencing Primer
(F):5'- ACTTCAGTGGTGGATCTGAGGAAATG -3'
(R):5'- CAGCTGTGAACCGAAGTGTG -3'
Posted On 2016-10-24