Mutagenetix > Incidental Mutation

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

045380-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7348 (G1)

Quality Score

105.008

Status

Validated

Chromosome

Chromosomal Location

49559894-49613604 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 49559915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146430 (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

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: 41,729,555 (GRCm39)	R282C	probably damaging	Het
Adcy2	T	A	13: 68,882,794 (GRCm39)	E314D	possibly damaging	Het
Adgrl2	A	T	3: 148,523,402 (GRCm39)	I274N		Het
Adpgk	A	G	9: 59,221,069 (GRCm39)	I292V	probably benign	Het
Agtrap	G	T	4: 148,165,054 (GRCm39)	F124L	probably benign	Het
Ankrd26	A	G	6: 118,485,525 (GRCm39)	Y1450H	probably damaging	Het
Ap4e1	A	T	2: 126,903,896 (GRCm39)	S933C	probably damaging	Het
Ap4e1	G	T	2: 126,903,897 (GRCm39)	S933I	possibly damaging	Het
Ap5s1	A	T	2: 131,054,572 (GRCm39)	T128S	possibly damaging	Het
Arih1	T	C	9: 59,393,341 (GRCm39)	Y97C	probably damaging	Het
Atp1a3	A	G	7: 24,678,251 (GRCm39)	F1034S	unknown	Het
Bmp6	T	C	13: 38,669,879 (GRCm39)	S388P	probably benign	Het
Ccdc39	A	G	3: 33,886,825 (GRCm39)	V261A	possibly damaging	Het
Ccdc66	C	T	14: 27,222,293 (GRCm39)	C150Y	probably damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cln6	A	G	9: 62,756,458 (GRCm39)	S201G	probably benign	Het
Cntnap4	T	C	8: 113,391,909 (GRCm39)	Y125H	probably damaging	Het
Copa	A	G	1: 171,929,790 (GRCm39)	T286A	possibly damaging	Het
Cul9	A	T	17: 46,821,919 (GRCm39)	I1852K	possibly damaging	Het
Cyp2j8	C	A	4: 96,332,877 (GRCm39)	A490S	probably benign	Het
Cyp2t4	A	G	7: 26,856,676 (GRCm39)	I239V	probably benign	Het
Dpcd	A	G	19: 45,560,905 (GRCm39)	Y111C	probably damaging	Het
E2f7	C	T	10: 110,616,836 (GRCm39)	T692I	probably damaging	Het
Fastkd5	A	G	2: 130,457,055 (GRCm39)	Y512H	probably damaging	Het
Fastkd5	A	C	2: 130,458,359 (GRCm39)	M77R	probably benign	Het
Fhod3	A	G	18: 25,223,524 (GRCm39)	R957G	possibly damaging	Het
H6pd	C	A	4: 150,068,359 (GRCm39)		probably null	Het
Haus5	G	T	7: 30,356,391 (GRCm39)	P544Q	possibly damaging	Het
Ifi207	CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	1: 173,556,762 (GRCm39)		probably benign	Het
Igf2r	A	G	17: 12,922,371 (GRCm39)	Y1248H	probably damaging	Het
Izumo3	T	C	4: 92,035,455 (GRCm39)	N6S	possibly damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Map3k8	T	A	18: 4,340,561 (GRCm39)	H251L	probably damaging	Het
Mapre3	T	C	5: 31,019,173 (GRCm39)	Y6H	probably benign	Het
Mlh3	G	T	12: 85,314,215 (GRCm39)	P657Q	probably damaging	Het
Mrgpra1	T	C	7: 46,985,157 (GRCm39)	Y174C	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myh1	C	A	11: 67,093,365 (GRCm39)	P152Q	probably damaging	Het
Myh6	A	T	14: 55,189,716 (GRCm39)	L1110Q	probably damaging	Het
Nf1	T	A	11: 79,427,676 (GRCm39)	S1778T	probably benign	Het
Nkpd1	G	A	7: 19,258,341 (GRCm39)	E707K	probably damaging	Het
Nlrp4a	A	G	7: 26,143,698 (GRCm39)	E21G	probably damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Or2f1	T	C	6: 42,721,790 (GRCm39)	L273S	possibly damaging	Het
Or5p1	T	C	7: 107,916,920 (GRCm39)	V273A	possibly damaging	Het
Or5p64	T	C	7: 107,855,330 (GRCm39)	D5G	probably benign	Het
Or7a38	A	G	10: 78,753,396 (GRCm39)	T241A	probably damaging	Het
Parg	G	A	14: 31,972,036 (GRCm39)	R677Q	possibly damaging	Het
Pcsk5	A	T	19: 17,434,182 (GRCm39)	C1395*	probably null	Het
Psd2	G	A	18: 36,113,389 (GRCm39)	S287N	possibly damaging	Het
Psd3	T	C	8: 68,243,583 (GRCm39)	N685S	possibly damaging	Het
Pygb	C	T	2: 150,628,903 (GRCm39)	T39M	probably benign	Het
Rbfox1	C	A	16: 7,225,888 (GRCm39)	Y351*	probably null	Het
Rftn1	A	G	17: 50,311,351 (GRCm39)	L396P	probably damaging	Het
S1pr1	A	G	3: 115,505,710 (GRCm39)	Y295H	probably damaging	Het
Scn5a	T	C	9: 119,364,899 (GRCm39)	M440V	probably benign	Het
Sel1l2	T	C	2: 140,107,644 (GRCm39)	N240S	probably benign	Het
Skic3	T	C	13: 76,331,003 (GRCm39)	F1478L	possibly damaging	Het
Skint1	T	C	4: 111,878,770 (GRCm39)	L234P	probably damaging	Het
Skint11	T	A	4: 114,101,919 (GRCm39)	Y311N	probably benign	Het
Tas2r134	T	C	2: 51,518,414 (GRCm39)	S298P	possibly damaging	Het
Tbcd	C	A	11: 121,485,137 (GRCm39)	A773D	probably benign	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tmem184a	T	C	5: 139,799,809 (GRCm39)	E24G	probably null	Het
Tmem207	C	A	16: 26,335,577 (GRCm39)	W53C	possibly damaging	Het
Tns1	T	A	1: 73,956,076 (GRCm39)	H549L	possibly damaging	Het
Ttc41	G	T	10: 86,586,212 (GRCm39)	E839*	probably null	Het
Ufd1	T	G	16: 18,634,635 (GRCm39)		probably benign	Het
Usp28	A	G	9: 48,942,177 (GRCm39)	E713G	probably benign	Het
Utrn	A	G	10: 12,623,762 (GRCm39)	W159R	probably damaging	Het
Vcl	C	T	14: 21,053,218 (GRCm39)	A411V	probably benign	Het
Vcl	T	A	14: 21,059,020 (GRCm39)	C545*	probably null	Het
Vmn1r120	A	T	7: 20,787,377 (GRCm39)	S111R	probably damaging	Het
Wwox	T	A	8: 115,199,392 (GRCm39)	C146S	probably benign	Het
Zbtb2	T	C	10: 4,324,574 (GRCm39)	T57A	possibly damaging	Het
Zfp362	T	C	4: 128,671,010 (GRCm39)	D336G	possibly damaging	Het
Zfp628	G	A	7: 4,924,817 (GRCm39)	G1013E	probably damaging	Het
Zfp704	A	G	3: 9,539,658 (GRCm39)	S231P	probably damaging	Het
Zhx3	G	T	2: 160,624,038 (GRCm39)	S43*	probably null	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
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'- AGGGAGACTGATTTGACCCC -3'
(R):5'- ACTGATCTAGGTTTGGCCCTGG -3'

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

Posted On

2019-09-13