Mutagenetix > Incidental Mutations

Incidental Mutation 'R1649:Slc6a5'

174099

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

039685-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49910146-49963856 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 49936262 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 443 (G443C)

Ref Sequence

ENSEMBL: ENSMUSP00000146917 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000056442
AA Change: G443C

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

SMART Domains

Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: G443C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107605
AA Change: G443C

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

SMART Domains

Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: G443C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000207753
AA Change: G443C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000209172

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 88.1%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	A	G	8: 3,389,094		probably benign	Het
Akr1a1	T	A	4: 116,638,020	I261F	probably damaging	Het
Aldh1l1	T	C	6: 90,564,389	V255A	probably benign	Het
Ambn	T	A	5: 88,464,481	M172K	probably benign	Het
BC034090	T	C	1: 155,225,573	H315R	possibly damaging	Het
Btaf1	T	A	19: 36,981,722	D707E	probably benign	Het
C6	T	C	15: 4,735,257	L145P	possibly damaging	Het
Cav3	T	A	6: 112,472,246	L75Q	probably damaging	Het
Cavin2	T	A	1: 51,300,780	D205E	probably benign	Het
Cdadc1	T	C	14: 59,573,793	T423A	probably damaging	Het
Cep120	A	T	18: 53,724,576	H272Q	probably damaging	Het
Chd9	A	T	8: 90,932,601	Q63L	possibly damaging	Het
Clspn	T	C	4: 126,566,435		probably benign	Het
Cramp1l	G	T	17: 24,983,243	H422N	probably damaging	Het
Csn1s2b	A	T	5: 87,819,084	M71L	probably benign	Het
D630045J12Rik	C	A	6: 38,181,431	A1104S	probably damaging	Het
D930048N14Rik	A	G	11: 51,654,836		probably benign	Het
Ern2	G	A	7: 122,177,400	P366S	probably damaging	Het
Gm1527	T	C	3: 28,898,731	I60T	probably damaging	Het
Gse1	T	C	8: 120,578,515		probably benign	Het
Ildr1	T	C	16: 36,708,319	L42P	probably damaging	Het
Itih2	G	A	2: 10,105,735	T515I	probably benign	Het
Jcad	C	A	18: 4,673,309	P357Q	probably damaging	Het
Kitl	A	G	10: 100,064,114	T94A	probably benign	Het
Klri1	C	T	6: 129,698,241	M185I	probably benign	Het
Lsamp	A	T	16: 41,955,298	M171L	probably benign	Het
Macf1	T	G	4: 123,484,053	I1460L	probably damaging	Het
Map1b	C	G	13: 99,516,478	V4L	probably benign	Het
Mboat7	A	T	7: 3,685,818	V237D	probably benign	Het
Mctp2	A	T	7: 72,161,258	I656K	probably damaging	Het
Ms4a6b	A	G	19: 11,520,442	D35G	possibly damaging	Het
Nipsnap2	T	A	5: 129,753,237	I205N	probably damaging	Het
Nsd2	T	C	5: 33,854,640	V264A	probably damaging	Het
Oacyl	C	T	18: 65,750,096	T582I	probably damaging	Het
Olfm1	A	T	2: 28,229,267	T333S	possibly damaging	Het
Olfm4	G	A	14: 80,011,982	E180K	probably damaging	Het
Olfr127	T	C	17: 37,904,169	F208L	probably benign	Het
Olfr1368	A	T	13: 21,142,742	L105Q	probably damaging	Het
Olfr146	T	G	9: 39,019,480	Q20H	probably benign	Het
Parp4	T	A	14: 56,590,428	V212E	possibly damaging	Het
Pcdhb21	T	A	18: 37,515,613	N598K	probably damaging	Het
Piezo2	C	A	18: 63,117,672	W452L	probably benign	Het
Plec	C	A	15: 76,205,811	A110S	possibly damaging	Het
Popdc3	T	C	10: 45,315,224	Y144H	probably damaging	Het
Ptgdr	T	C	14: 44,858,502	H251R	probably benign	Het
Ptpro	T	A	6: 137,444,017	Y246*	probably null	Het
Pyroxd2	T	C	19: 42,738,134	D247G	probably damaging	Het
Robo2	T	C	16: 73,899,001	E1418G	probably benign	Het
Rtp3	T	C	9: 110,986,704	T198A	probably benign	Het
Sec16a	A	T	2: 26,425,524	V1767D	probably damaging	Het
Sept14	T	C	5: 129,697,755	N119D	probably benign	Het
Serpina5	A	T	12: 104,105,225	T364S	possibly damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Sh3bp2	C	T	5: 34,559,004	A253V	possibly damaging	Het
Spag9	T	A	11: 94,108,452		probably null	Het
Sptbn1	T	C	11: 30,137,301	E1033G	probably damaging	Het
Timm17a	T	G	1: 135,309,802	Q39P	probably damaging	Het
Tmem26	A	T	10: 68,751,273	T184S	probably damaging	Het
Tpi1	A	T	6: 124,812,928		probably null	Het
Tssk5	T	C	15: 76,373,803	Y118C	possibly damaging	Het
Ttll4	T	A	1: 74,697,470	L1118Q	possibly damaging	Het
Ttll5	T	A	12: 85,923,014	L691Q	probably damaging	Het
Vmn1r49	A	T	6: 90,072,641	H126Q	possibly damaging	Het
Zfp518b	A	T	5: 38,671,881	V927E	probably damaging	Het
Zfp618	T	C	4: 63,095,537	F213S	probably damaging	Het
Zfp759	T	A	13: 67,139,604	N406K	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
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
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'- CTGTCACCTCAGCTCAATGATGTCC -3'
(R):5'- GCACTTAGCTACCTGATCATCACCC -3'

Sequencing Primer
(F):5'- CTTAGGGATGCTGCTCACC -3'
(R):5'- GATCTCCCAGACCTGAAGATGTAG -3'

Posted On

2014-04-24