Mutagenetix > Incidental Mutation

Incidental Mutation 'R7486:Slc6a5'

580164

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

045560-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7486 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49559894-49613604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49567078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 255 (S255P)

Ref Sequence

ENSEMBL: ENSMUSP00000058699 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056442
AA Change: S255P

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: S255P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107605
AA Change: S255P

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: S255P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207753
AA Change: S255P

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000209172

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	T	C	12: 81,605,657 (GRCm39)	I702V	probably benign	Het
Adgre5	T	C	8: 84,450,515 (GRCm39)	E815G	probably damaging	Het
Adgrl2	A	G	3: 148,523,330 (GRCm39)	V298A		Het
Akp3	A	G	1: 87,053,201 (GRCm39)	D91G	probably damaging	Het
Ano8	A	G	8: 71,937,642 (GRCm39)		probably null	Het
Blvra	T	C	2: 126,929,243 (GRCm39)	S136P	unknown	Het
Cacul1	T	A	19: 60,568,868 (GRCm39)	M97L	probably benign	Het
Ccdc80	T	C	16: 44,946,542 (GRCm39)	V827A	probably damaging	Het
Cep68	T	C	11: 20,192,166 (GRCm39)	E11G	probably benign	Het
Cfap221	A	T	1: 119,851,322 (GRCm39)	V813E	possibly damaging	Het
Chd6	A	G	2: 160,791,923 (GRCm39)	V2478A	probably damaging	Het
Chmp6	T	C	11: 119,807,783 (GRCm39)	F148S	probably benign	Het
Clca3a2	T	A	3: 144,503,362 (GRCm39)	I863F	probably damaging	Het
Cnnm2	T	C	19: 46,750,513 (GRCm39)	V101A	possibly damaging	Het
Cpne8	A	T	15: 90,400,109 (GRCm39)		probably null	Het
Dmbt1	T	G	7: 130,668,192 (GRCm39)	C483G	unknown	Het
Dnah7b	G	A	1: 46,329,894 (GRCm39)	G3246D	probably damaging	Het
Dnajc3	C	A	14: 119,209,816 (GRCm39)	T297K	probably benign	Het
Dpm3	A	G	3: 89,174,034 (GRCm39)		probably null	Het
Eef2k	A	G	7: 120,457,793 (GRCm39)	N51D	probably benign	Het
Erc1	G	A	6: 119,571,907 (GRCm39)	Q1022*	probably null	Het
Ercc5	T	A	1: 44,187,224 (GRCm39)	M1K	probably null	Het
Fam114a2	C	T	11: 57,404,515 (GRCm39)	G83D	probably damaging	Het
Fat4	C	A	3: 39,011,576 (GRCm39)	Y2225*	probably null	Het
Frk	G	A	10: 34,423,292 (GRCm39)	W123*	probably null	Het
Gm11568	T	A	11: 99,749,292 (GRCm39)	C166S	unknown	Het
Gpr153	A	G	4: 152,366,858 (GRCm39)	D337G	probably benign	Het
Gpt2	T	C	8: 86,252,235 (GRCm39)	F517L	probably damaging	Het
Gsg1	C	T	6: 135,214,427 (GRCm39)	E361K	probably benign	Het
Hsfy2	G	A	1: 56,676,130 (GRCm39)	R136*	probably null	Het
Insm1	G	A	2: 146,065,738 (GRCm39)	R518H	probably damaging	Het
Kank1	G	A	19: 25,388,193 (GRCm39)	C622Y	probably damaging	Het
Katnb1	T	A	8: 95,825,357 (GRCm39)	S640R	probably damaging	Het
Kcnmb4	A	G	10: 116,254,180 (GRCm39)	V199A	probably benign	Het
Lamb1	T	G	12: 31,337,441 (GRCm39)	S391A	probably benign	Het
Larp7-ps	A	T	4: 92,079,506 (GRCm39)	V105E	probably benign	Het
Macf1	T	G	4: 123,303,374 (GRCm39)	D376A	probably benign	Het
Map7d1	C	A	4: 126,128,179 (GRCm39)	R614L	unknown	Het
Mcm8	C	T	2: 132,681,440 (GRCm39)	R667W	probably damaging	Het
Med13l	C	T	5: 118,866,539 (GRCm39)	T531I	probably benign	Het
Mstn	G	T	1: 53,103,128 (GRCm39)	A155S	probably damaging	Het
Mycbp2	C	T	14: 103,434,690 (GRCm39)	R2251K	probably damaging	Het
Myo19	T	C	11: 84,796,463 (GRCm39)	S692P	probably benign	Het
Nipbl	A	T	15: 8,325,120 (GRCm39)	N2514K	probably benign	Het
Nkd2	T	A	13: 73,995,561 (GRCm39)		probably benign	Het
Nox3	T	A	17: 3,720,219 (GRCm39)	Y322F	probably damaging	Het
Nt5dc1	A	G	10: 34,275,805 (GRCm39)	Y135H	probably benign	Het
Oog3	T	A	4: 143,884,742 (GRCm39)	H398L	probably benign	Het
Or10g9	T	A	9: 39,912,181 (GRCm39)	Y114F	probably benign	Het
Or12j4	C	T	7: 140,045,947 (GRCm39)		probably benign	Het
Or1e29	T	C	11: 73,667,847 (GRCm39)	Y102C	probably damaging	Het
Otogl	A	G	10: 107,657,849 (GRCm39)	L1027P	probably damaging	Het
Pcdh20	T	A	14: 88,706,050 (GRCm39)	I417F	possibly damaging	Het
Pcdha12	T	A	18: 37,154,610 (GRCm39)	V443E	probably damaging	Het
Pcdhga2	A	G	18: 37,803,461 (GRCm39)	D435G	probably benign	Het
Pcnt	G	T	10: 76,254,270 (GRCm39)	T853K	probably benign	Het
Pcnt	T	C	10: 76,254,271 (GRCm39)	T853A	probably benign	Het
Pgghg	T	A	7: 140,522,393 (GRCm39)	S57R	probably benign	Het
Ppm1m	T	C	9: 106,073,810 (GRCm39)	D301G	probably damaging	Het
Ppp6r1	A	G	7: 4,642,899 (GRCm39)	V519A	probably benign	Het
Prss41	ACAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCA	17: 24,063,072 (GRCm39)		probably benign	Het
Rasa3	C	T	8: 13,640,201 (GRCm39)		probably null	Het
Robo4	T	C	9: 37,316,870 (GRCm39)	V395A	probably damaging	Het
Scrib	A	G	15: 75,929,499 (GRCm39)	S1123P	probably damaging	Het
Setd1b	A	G	5: 123,301,655 (GRCm39)	K45E	probably benign	Het
Slc14a1	T	C	18: 78,154,739 (GRCm39)	S216G	probably benign	Het
Slc25a45	A	G	19: 5,934,997 (GRCm39)	Y282C	probably damaging	Het
Smc2	A	T	4: 52,462,861 (GRCm39)	Q617L	possibly damaging	Het
Spo11	G	A	2: 172,825,870 (GRCm39)	D103N	probably benign	Het
Tcf20	A	T	15: 82,737,935 (GRCm39)	M1172K	possibly damaging	Het
Tesc	T	A	5: 118,184,382 (GRCm39)	S21T	probably benign	Het
Tie1	C	A	4: 118,337,101 (GRCm39)		probably null	Het
Trim24	T	G	6: 37,934,774 (GRCm39)		probably null	Het
Trpm7	A	G	2: 126,673,115 (GRCm39)		probably null	Het
Unc13d	T	C	11: 115,965,259 (GRCm39)	D193G	possibly damaging	Het
Upk3a	A	T	15: 84,902,225 (GRCm39)		probably null	Het
Vmn2r25	T	C	6: 123,800,101 (GRCm39)	N747S	probably damaging	Het
Wipf1	GCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCC	2: 73,270,418 (GRCm39)		probably benign	Het
Zbtb2	G	A	10: 4,319,025 (GRCm39)	Q334*	probably null	Het
Zfp653	T	C	9: 21,967,824 (GRCm39)	N494D	probably damaging	Het
Zfp865	A	G	7: 5,034,259 (GRCm39)	D748G	possibly damaging	Het
Zzef1	T	C	11: 72,755,612 (GRCm39)	S1014P	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
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
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
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'- GCCTACTGTAGAGCTAGGACAC -3'
(R):5'- AATGGAGACGATCTGCCAAG -3'

Sequencing Primer
(F):5'- TGTAGAGCTAGGACACTAAAAGCCTC -3'
(R):5'- GAGACGATCTGCCAAGGACCC -3'

Posted On

2019-10-07