Mutagenetix > Incidental Mutations

Incidental Mutation 'R7348:Slc6a5'

570356

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7348 (G1)

Quality Score

105.008

Status

Validated

Chromosome

Chromosomal Location

49910146-49963856 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 49910167 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146430 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000056442

SMART Domains

Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107605

SMART Domains

Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207753

Predicted Effect

probably benign
Transcript: ENSMUST00000209172

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	G	A	15: 41,866,159	R282C	probably damaging	Het
Adcy2	T	A	13: 68,734,675	E314D	possibly damaging	Het
Adgrl2	A	T	3: 148,817,766	I274N		Het
Adpgk	A	G	9: 59,313,786	I292V	probably benign	Het
Agtrap	G	T	4: 148,080,597	F124L	probably benign	Het
Ankrd26	A	G	6: 118,508,564	Y1450H	probably damaging	Het
Ap4e1	A	T	2: 127,061,976	S933C	probably damaging	Het
Ap4e1	G	T	2: 127,061,977	S933I	possibly damaging	Het
Ap5s1	A	T	2: 131,212,652	T128S	possibly damaging	Het
Arih1	T	C	9: 59,486,058	Y97C	probably damaging	Het
Atp1a3	A	G	7: 24,978,826	F1034S	unknown	Het
Bmp6	T	C	13: 38,485,903	S388P	probably benign	Het
Ccdc39	A	G	3: 33,832,676	V261A	possibly damaging	Het
Ccdc66	C	T	14: 27,500,336	C150Y	probably damaging	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Cln6	A	G	9: 62,849,176	S201G	probably benign	Het
Cntnap4	T	C	8: 112,665,277	Y125H	probably damaging	Het
Copa	A	G	1: 172,102,223	T286A	possibly damaging	Het
Cul9	A	T	17: 46,510,993	I1852K	possibly damaging	Het
Cyp2j8	C	A	4: 96,444,640	A490S	probably benign	Het
Cyp2t4	A	G	7: 27,157,251	I239V	probably benign	Het
E2f7	C	T	10: 110,780,975	T692I	probably damaging	Het
Fastkd5	A	G	2: 130,615,135	Y512H	probably damaging	Het
Fastkd5	A	C	2: 130,616,439	M77R	probably benign	Het
Fhod3	A	G	18: 25,090,467	R957G	possibly damaging	Het
Gm17018	A	G	19: 45,572,466	Y111C	probably damaging	Het
H6pd	C	A	4: 149,983,902		probably null	Het
Haus5	G	T	7: 30,656,966	P544Q	possibly damaging	Het
Ifi207	CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	1: 173,729,196		probably benign	Het
Igf2r	A	G	17: 12,703,484	Y1248H	probably damaging	Het
Izumo3	T	C	4: 92,147,218	N6S	possibly damaging	Het
Lrp6	G	T	6: 134,450,818	P1604T	probably damaging	Het
Map3k8	T	A	18: 4,340,561	H251L	probably damaging	Het
Mapre3	T	C	5: 30,861,829	Y6H	probably benign	Het
Mlh3	G	T	12: 85,267,441	P657Q	probably damaging	Het
Mrgpra1	T	C	7: 47,335,409	Y174C	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myh1	C	A	11: 67,202,539	P152Q	probably damaging	Het
Myh6	A	T	14: 54,952,259	L1110Q	probably damaging	Het
Nf1	T	A	11: 79,536,850	S1778T	probably benign	Het
Nkpd1	G	A	7: 19,524,416	E707K	probably damaging	Het
Nlrp4a	A	G	7: 26,444,273	E21G	probably damaging	Het
Nr4a3	T	G	4: 48,051,290	S15A	possibly damaging	Het
Olfr1354	A	G	10: 78,917,562	T241A	probably damaging	Het
Olfr453	T	C	6: 42,744,856	L273S	possibly damaging	Het
Olfr488	T	C	7: 108,256,123	D5G	probably benign	Het
Olfr491	T	C	7: 108,317,713	V273A	possibly damaging	Het
Parg	G	A	14: 32,250,079	R677Q	possibly damaging	Het
Pcsk5	A	T	19: 17,456,818	C1395*	probably null	Het
Psd2	G	A	18: 35,980,336	S287N	possibly damaging	Het
Psd3	T	C	8: 67,790,931	N685S	possibly damaging	Het
Pygb	C	T	2: 150,786,983	T39M	probably benign	Het
Rbfox1	C	A	16: 7,408,024	Y351*	probably null	Het
Rftn1	A	G	17: 50,004,323	L396P	probably damaging	Het
S1pr1	A	G	3: 115,712,061	Y295H	probably damaging	Het
Scn5a	T	C	9: 119,535,833	M440V	probably benign	Het
Sel1l2	T	C	2: 140,265,724	N240S	probably benign	Het
Skint1	T	C	4: 112,021,573	L234P	probably damaging	Het
Skint11	T	A	4: 114,244,722	Y311N	probably benign	Het
Tas2r134	T	C	2: 51,628,402	S298P	possibly damaging	Het
Tbcd	C	A	11: 121,594,311	A773D	probably benign	Het
Tgoln1	G	C	6: 72,616,278	T73R	probably benign	Het
Tmem184a	T	C	5: 139,814,054	E24G	probably null	Het
Tmem207	C	A	16: 26,516,827	W53C	possibly damaging	Het
Tns1	T	A	1: 73,916,917	H549L	possibly damaging	Het
Ttc37	T	C	13: 76,182,884	F1478L	possibly damaging	Het
Ttc41	G	T	10: 86,750,348	E839*	probably null	Het
Ufd1	T	G	16: 18,815,885		probably benign	Het
Usp28	A	G	9: 49,030,877	E713G	probably benign	Het
Utrn	A	G	10: 12,748,018	W159R	probably damaging	Het
Vcl	C	T	14: 21,003,150	A411V	probably benign	Het
Vcl	T	A	14: 21,008,952	C545*	probably null	Het
Vmn1r120	A	T	7: 21,053,452	S111R	probably damaging	Het
Wwox	T	A	8: 114,472,652	C146S	probably benign	Het
Zbtb2	T	C	10: 4,374,574	T57A	possibly damaging	Het
Zfp362	T	C	4: 128,777,217	D336G	possibly damaging	Het
Zfp628	G	A	7: 4,921,818	G1013E	probably damaging	Het
Zfp704	A	G	3: 9,474,598	S231P	probably damaging	Het
Zhx3	G	T	2: 160,782,118	S43*	probably null	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
R3917:Slc6a5	UTSW	7	49911869	missense	probably damaging	1.00
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
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
Z1088:Slc6a5	UTSW	7	49911857	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- AGGGAGACTGATTTGACCCC -3'
(R):5'- ACTGATCTAGGTTTGGCCCTGG -3'

Sequencing Primer
(F):5'- TGCGCCTTGCCTTGGAG -3'
(R):5'- GGAACAAGAGGCGCTTTCTATATCTC -3'

Posted On

2019-09-13