Mutagenetix > Incidental Mutation

Incidental Mutation 'R1822:Slc6a5'

206475

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

039850-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1822 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49559894-49613604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49606173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 694 (W694R)

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: W694R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: W694R

Domain	Start	End	E-Value	Type
Pfam:SNF	185	734	1.6e-218	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107605
AA Change: W694R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: W694R

Domain	Start	End	E-Value	Type
Pfam:SNF	185	734	1.6e-218	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207753
AA Change: W694R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000209172

Meta Mutation Damage Score

0.5730

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

97% (105/108)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,847,901 (GRCm39)	T798K	possibly damaging	Het
Abtb1	T	C	6: 88,813,536 (GRCm39)	T401A	probably benign	Het
Adsl	G	T	15: 80,846,943 (GRCm39)	E70*	probably null	Het
Ahcyl2	A	G	6: 29,768,583 (GRCm39)		probably benign	Het
Akr1a1	A	G	4: 116,493,850 (GRCm39)	V310A	probably benign	Het
Alpk3	T	A	7: 80,726,679 (GRCm39)	C121*	probably null	Het
Amph	T	A	13: 19,132,625 (GRCm39)	I8N	probably damaging	Het
Ano2	G	A	6: 125,840,420 (GRCm39)	A364T	probably damaging	Het
Apbb2	T	C	5: 66,557,520 (GRCm39)	T314A	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atf7ip	A	G	6: 136,564,258 (GRCm39)	T834A	probably benign	Het
Brca2	T	G	5: 150,463,663 (GRCm39)	D1142E	probably benign	Het
Brd10	T	C	19: 29,693,814 (GRCm39)	N1960S	probably damaging	Het
Cap2	A	G	13: 46,768,823 (GRCm39)	S210G	probably benign	Het
Capn2	C	A	1: 182,300,525 (GRCm39)	E596D	possibly damaging	Het
Cdc27	A	T	11: 104,413,648 (GRCm39)	S358R	probably benign	Het
Cdhr3	C	T	12: 33,095,204 (GRCm39)	G622S	probably null	Het
Clip2	A	G	5: 134,532,081 (GRCm39)	Y540H	probably benign	Het
Crhr1	A	T	11: 104,023,898 (GRCm39)	M1L	probably benign	Het
Csmd1	T	C	8: 16,273,340 (GRCm39)	T831A	probably damaging	Het
Cwc22	T	C	2: 77,755,003 (GRCm39)		probably benign	Het
Cyp3a25	T	A	5: 145,921,763 (GRCm39)	K390N	probably damaging	Het
Cyp4a31	T	C	4: 115,423,810 (GRCm39)		probably null	Het
Cytip	A	C	2: 58,024,158 (GRCm39)	S221A	probably benign	Het
Dagla	G	A	19: 10,240,550 (GRCm39)	R227C	possibly damaging	Het
Dhx57	A	G	17: 80,560,514 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,405,630 (GRCm39)	D627E	probably damaging	Het
Dock8	A	G	19: 25,138,422 (GRCm39)	E1249G	probably benign	Het
Dpysl3	A	G	18: 43,475,393 (GRCm39)	V31A	probably benign	Het
Ecpas	A	G	4: 58,805,539 (GRCm39)		probably null	Het
Fan1	T	C	7: 64,022,554 (GRCm39)	N233S	probably benign	Het
Fras1	A	T	5: 96,918,547 (GRCm39)	I3528F	probably damaging	Het
Glipr1	T	A	10: 111,832,765 (GRCm39)	M58L	possibly damaging	Het
Gm10509	C	T	17: 21,909,765 (GRCm39)	P31S	possibly damaging	Het
Gm5070	T	C	3: 95,318,355 (GRCm39)		noncoding transcript	Het
Gramd1a	T	C	7: 30,841,998 (GRCm39)	N138S	probably damaging	Het
Grk5	T	C	19: 61,078,410 (GRCm39)	V489A	probably damaging	Het
Hmcn2	C	T	2: 31,273,704 (GRCm39)	S1352L	probably damaging	Het
Hoxa5	G	A	6: 52,179,712 (GRCm39)	T221I	probably damaging	Het
Hsd17b2	C	A	8: 118,485,488 (GRCm39)	P317Q	possibly damaging	Het
Ifi213	T	A	1: 173,417,408 (GRCm39)	S335C	probably damaging	Het
Izumo4	A	T	10: 80,539,729 (GRCm39)	D156V	probably damaging	Het
Khnyn	A	T	14: 56,123,309 (GRCm39)	E21V	probably damaging	Het
Kmt2d	C	T	15: 98,759,661 (GRCm39)	G1199E	unknown	Het
Lipk	T	C	19: 34,016,491 (GRCm39)	W240R	probably benign	Het
Lpar5	A	G	6: 125,058,378 (GRCm39)	D33G	possibly damaging	Het
Lrp11	A	G	10: 7,471,961 (GRCm39)	D219G	probably damaging	Het
Lrrcc1	T	C	3: 14,624,285 (GRCm39)		probably benign	Het
Man2a1	T	C	17: 65,047,837 (GRCm39)	C252R	probably damaging	Het
Map2k5	A	G	9: 63,142,585 (GRCm39)	F354L	possibly damaging	Het
Mlh3	T	C	12: 85,312,919 (GRCm39)		probably benign	Het
Mmp28	A	G	11: 83,335,045 (GRCm39)	I331T	probably damaging	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myo3a	A	T	2: 22,345,091 (GRCm39)	Y509F	probably damaging	Het
Nckap1	A	G	2: 80,348,242 (GRCm39)	S898P	possibly damaging	Het
Nectin1	T	A	9: 43,702,374 (GRCm39)	Y40*	probably null	Het
Neurl1a	T	A	19: 47,245,898 (GRCm39)	V493E	probably benign	Het
Ntf3	A	C	6: 126,079,209 (GRCm39)	I99S	probably benign	Het
Or10ag53	T	C	2: 87,083,054 (GRCm39)	S258P	possibly damaging	Het
Or1l4	C	G	2: 37,091,992 (GRCm39)	H246Q	probably damaging	Het
Or1p1c	A	G	11: 74,161,066 (GRCm39)	T284A	probably benign	Het
Or2ak5	A	T	11: 58,611,133 (GRCm39)	V247E	probably damaging	Het
Or2i1	A	G	17: 37,507,722 (GRCm39)		probably benign	Het
Or2y1c	T	A	11: 49,361,795 (GRCm39)	F272L	probably benign	Het
Or6k8-ps1	C	T	1: 173,979,780 (GRCm39)	R233C	probably benign	Het
Otof	G	A	5: 30,536,054 (GRCm39)	T1343I	probably benign	Het
Otop2	A	T	11: 115,215,454 (GRCm39)	Y125F	probably benign	Het
Pate3	G	A	9: 35,557,401 (GRCm39)	T85I	probably benign	Het
Pdpk1	A	T	17: 24,317,150 (GRCm39)		probably benign	Het
Phf11d	T	C	14: 59,593,778 (GRCm39)	H132R	probably benign	Het
Pik3c3	G	A	18: 30,477,130 (GRCm39)		probably null	Het
Pkhd1	C	A	1: 20,417,681 (GRCm39)	G2490V	probably damaging	Het
Prkdc	G	A	16: 15,577,469 (GRCm39)	D2372N	probably damaging	Het
Ptprq	C	T	10: 107,554,339 (GRCm39)	E129K	probably damaging	Het
Pym1	G	A	10: 128,601,913 (GRCm39)		probably benign	Het
Ralgapb	T	A	2: 158,334,372 (GRCm39)	V1027E	probably damaging	Het
Rita1	T	C	5: 120,747,645 (GRCm39)	T218A	possibly damaging	Het
Rrh	T	A	3: 129,606,282 (GRCm39)	T218S	probably damaging	Het
Scaper	C	T	9: 55,767,184 (GRCm39)	A416T	probably damaging	Het
Scn3a	A	G	2: 65,314,716 (GRCm39)	L1115P	probably damaging	Het
Serpinb6e	A	T	13: 34,017,217 (GRCm39)	S268T	probably damaging	Het
Skic3	C	A	13: 76,278,407 (GRCm39)	H574N	probably benign	Het
Slc1a6	G	A	10: 78,648,765 (GRCm39)	W495*	probably null	Het
Slc32a1	A	G	2: 158,453,298 (GRCm39)	H46R	probably benign	Het
Slc37a1	C	T	17: 31,519,405 (GRCm39)		probably benign	Het
Smarcd2	A	T	11: 106,158,222 (GRCm39)	D113E	probably benign	Het
Sod3	G	T	5: 52,525,504 (GRCm39)	V68L	probably benign	Het
Srpk3	G	A	X: 72,821,561 (GRCm39)	R425Q	possibly damaging	Het
Sspo	A	T	6: 48,469,820 (GRCm39)	Q4506L	possibly damaging	Het
Stam2	T	A	2: 52,606,539 (GRCm39)	E115D	probably damaging	Het
Sult1c2	A	T	17: 54,280,953 (GRCm39)	L50H	probably damaging	Het
Tbc1d22a	T	C	15: 86,119,770 (GRCm39)	V22A	possibly damaging	Het
Togaram1	T	G	12: 65,042,409 (GRCm39)	V1156G	probably damaging	Het
Tpp1	T	C	7: 105,398,854 (GRCm39)	T192A	probably benign	Het
Ush1c	A	G	7: 45,859,325 (GRCm39)	L498P	probably damaging	Het
Vit	A	C	17: 78,930,265 (GRCm39)	Q410P	probably benign	Het
Vmn2r27	C	T	6: 124,208,593 (GRCm39)	G51S	probably benign	Het
Zfp341	A	G	2: 154,488,054 (GRCm39)	E839G	possibly damaging	Het
Zhx3	G	A	2: 160,622,275 (GRCm39)	L631F	probably benign	Het
Zmpste24	T	C	4: 120,944,513 (GRCm39)	E95G	possibly damaging	Het

Other mutations in Slc6a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GCTGAGTTTGTGTTTCCACC -3'
(R):5'- TTTAGGATCTCTCCCTCGGG -3'

Sequencing Primer
(F):5'- GGTTTTACTTCCTTCACTGGGAAAAC -3'
(R):5'- TCGGGAGAGGCTAGCAG -3'

Posted On

2014-06-23