Mutagenetix > Incidental Mutations

Incidental Mutation 'R3917:Slc6a5'

307345

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

040914-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3917 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49910146-49963856 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49911869 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 50 (S50P)

Ref Sequence

ENSEMBL: ENSMUSP00000146430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056442] [ENSMUST00000107605] [ENSMUST00000207753] [ENSMUST00000209172]

Predicted Effect

probably damaging
Transcript: ENSMUST00000056442
AA Change: S50P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: S50P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107605
AA Change: S50P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: S50P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000207753
AA Change: S50P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209172
AA Change: S50P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.1030

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (74/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	A	G	5: 121,599,214	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935	E37G	probably benign	Het
Apol11b	A	G	15: 77,635,304	I192T	probably benign	Het
Appl1	A	T	14: 26,928,604	F537Y	probably damaging	Het
Atad5	A	C	11: 80,103,294	K785N	probably null	Het
Atp1b2	A	G	11: 69,603,075	V93A	probably damaging	Het
Bcam	T	C	7: 19,765,450	Y216C	probably damaging	Het
Brca2	A	G	5: 150,540,827	E1352G	probably damaging	Het
C030005K15Rik	A	C	10: 97,725,591	S93A	unknown	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Ccdc88c	A	G	12: 100,941,107		probably null	Het
Ccdc89	A	G	7: 90,426,825	D81G	probably damaging	Het
Ccnt1	A	G	15: 98,544,059	S443P	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdc42bpa	T	C	1: 180,106,154		probably null	Het
Cdk11b	T	C	4: 155,626,801	S47P	probably damaging	Het
Cfap43	T	C	19: 47,897,750	D142G	probably benign	Het
Cntnap4	C	G	8: 112,875,533	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611	Y567*	probably null	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,585,549		probably benign	Het
Dock7	T	C	4: 99,016,685	Y651C	probably damaging	Het
Fzd3	A	T	14: 65,235,930	F130I	probably damaging	Het
Gabarapl2	T	A	8: 111,952,396	F115L	probably benign	Het
Gm1043	G	A	5: 37,192,941		probably benign	Het
Gm12185	A	G	11: 48,915,933	F144L	probably benign	Het
Gm14124	T	A	2: 150,266,119		probably benign	Het
Gm21961	A	T	15: 65,014,884	D7E	unknown	Het
Gtf3a	A	G	5: 146,955,434	K332E	probably benign	Het
Haao	A	G	17: 83,838,799		probably null	Het
Habp2	T	A	19: 56,311,179	C170S	probably damaging	Het
Heatr3	T	G	8: 88,150,371		probably null	Het
Herc1	T	G	9: 66,434,466	C1846G	possibly damaging	Het
Hivep3	T	C	4: 120,099,427	S1647P	probably benign	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Hspg2	A	G	4: 137,559,314	E3648G	probably damaging	Het
Jaml	T	C	9: 45,101,151		probably benign	Het
Jund	C	T	8: 70,699,023		probably benign	Het
Klra14-ps	T	C	6: 130,157,632		noncoding transcript	Het
Krt88	G	A	15: 101,452,928		probably null	Het
Lrp5	G	A	19: 3,612,330	R173C	probably damaging	Het
Lyzl4	T	A	9: 121,583,035	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295	I575V	probably benign	Het
Myd88	T	C	9: 119,341,398		probably benign	Het
Myo1d	A	T	11: 80,666,578	V512E	probably damaging	Het
Ndufv1	A	G	19: 4,010,002	Y33H	probably damaging	Het
Nwd1	T	A	8: 72,667,811	C608*	probably null	Het
Olfr118	T	A	17: 37,672,793	F257I	probably damaging	Het
Olfr884	A	T	9: 38,047,545	I108F	probably damaging	Het
Patj	A	T	4: 98,592,008	K1317*	probably null	Het
Pld5	A	G	1: 175,963,938	S501P	probably benign	Het
Pnpo	A	G	11: 96,939,757	V146A	probably damaging	Het
Ppdpf	A	G	2: 181,187,728	Y16C	probably benign	Het
Ppp1r27	A	G	11: 120,550,959	V32A	possibly damaging	Het
Rbm28	T	C	6: 29,154,789	D294G	probably benign	Het
Sdk1	T	A	5: 142,051,244	D817E	probably damaging	Het
Shank3	A	G	15: 89,503,384	D252G	possibly damaging	Het
Slc29a1	A	T	17: 45,588,973		probably null	Het
Slc35a5	G	C	16: 45,158,158		probably benign	Het
Slfn8	A	T	11: 83,016,993	Y241*	probably null	Het
Slu7	G	T	11: 43,440,684		probably null	Het
Smad2	T	A	18: 76,287,937	D82E	probably benign	Het
Spx	A	C	6: 142,414,031	E33A	probably damaging	Het
Tdp1	A	G	12: 99,894,717	Y205C	probably damaging	Het
Tekt1	A	G	11: 72,345,748	I296T	possibly damaging	Het
Tgm1	G	A	14: 55,712,757		probably benign	Het
Tnks	A	G	8: 34,853,361	S719P	probably damaging	Het
Trip6	A	G	5: 137,313,679	C47R	probably benign	Het
Trpv3	A	G	11: 73,283,734	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519	K221E	possibly damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn1r57	A	T	7: 5,220,631	N52Y	probably damaging	Het
Vmn2r94	A	G	17: 18,244,358	F557L	probably benign	Het
Zbed5	T	C	5: 129,902,277	Y356H	possibly damaging	Het
Zic4	C	A	9: 91,384,341		probably benign	Het

Other mutations in Slc6a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01373:Slc6a5	APN	7	49917733	missense	probably benign	0.35
IGL01821:Slc6a5	APN	7	49914853	intron	probably benign
R0084:Slc6a5	UTSW	7	49930013	missense	probably benign	0.01
R0266:Slc6a5	UTSW	7	49938408	splice site	probably benign
R0411:Slc6a5	UTSW	7	49911791	missense	probably damaging	1.00
R0621:Slc6a5	UTSW	7	49917365	splice site	probably null
R1649:Slc6a5	UTSW	7	49936262	missense	probably damaging	1.00
R1822:Slc6a5	UTSW	7	49956425	missense	probably benign	0.00
R1889:Slc6a5	UTSW	7	49951434	missense	probably benign	0.03
R2084:Slc6a5	UTSW	7	49948254	missense	probably benign	0.14
R2098:Slc6a5	UTSW	7	49945567	missense	probably damaging	1.00
R2365:Slc6a5	UTSW	7	49946536	missense	possibly damaging	0.93
R2516:Slc6a5	UTSW	7	49956462	missense	probably benign	0.00
R3622:Slc6a5	UTSW	7	49917623	missense	probably benign	0.16
R3752:Slc6a5	UTSW	7	49936314	critical splice donor site	probably null
R3848:Slc6a5	UTSW	7	49927558	splice site	probably benign
R4617:Slc6a5	UTSW	7	49912020	missense	probably benign	0.00
R4663:Slc6a5	UTSW	7	49938398	nonsense	probably null
R4757:Slc6a5	UTSW	7	49959282	missense	probably benign	0.15
R4916:Slc6a5	UTSW	7	49948256	missense	probably benign	0.00
R5183:Slc6a5	UTSW	7	49936209	missense	probably damaging	0.97
R5257:Slc6a5	UTSW	7	49929992	missense	probably damaging	0.98
R5512:Slc6a5	UTSW	7	49941825	missense	probably damaging	1.00
R5537:Slc6a5	UTSW	7	49959311	missense	probably benign	0.03
R5558:Slc6a5	UTSW	7	49927573	missense	probably benign
R5627:Slc6a5	UTSW	7	49911774	missense	possibly damaging	0.85
R5655:Slc6a5	UTSW	7	49956470	missense	probably benign
R5720:Slc6a5	UTSW	7	49956516	missense	possibly damaging	0.86
R5736:Slc6a5	UTSW	7	49959354	missense	probably benign	0.03
R5817:Slc6a5	UTSW	7	49956491	missense	probably benign	0.00
R5879:Slc6a5	UTSW	7	49945512	missense	probably damaging	1.00
R6033:Slc6a5	UTSW	7	49959351	missense	probably benign	0.01
R6033:Slc6a5	UTSW	7	49959351	missense	probably benign	0.01
R6072:Slc6a5	UTSW	7	49912195	missense	probably damaging	1.00
R6157:Slc6a5	UTSW	7	49951502	missense	probably benign	0.03
R6172:Slc6a5	UTSW	7	49948333	nonsense	probably null
R6414:Slc6a5	UTSW	7	49910243	unclassified	probably benign
R7348:Slc6a5	UTSW	7	49910167	unclassified	probably benign
R7381:Slc6a5	UTSW	7	49930056	missense	probably damaging	1.00
R7486:Slc6a5	UTSW	7	49917330	missense	possibly damaging	0.81
R7624:Slc6a5	UTSW	7	49941866	missense	probably benign	0.00
R7735:Slc6a5	UTSW	7	49948342	critical splice donor site	probably null
R7760:Slc6a5	UTSW	7	49946617	missense	probably benign	0.03
R8174:Slc6a5	UTSW	7	49948309	missense	probably benign	0.39
R8219:Slc6a5	UTSW	7	49912163	missense	probably benign
R8496:Slc6a5	UTSW	7	49936212	missense	probably damaging	1.00
Z1088:Slc6a5	UTSW	7	49911857	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- AACTTGACATTGTGTTTGCAGG -3'
(R):5'- ACGCAGAGCTGGAATCTTG -3'

Sequencing Primer
(F):5'- AGGATTGCAGTGCTCCCAAG -3'
(R):5'- CTGGAATCTTGCAGTGCAGAGC -3'

Posted On

2015-04-17