Mutagenetix > Incidental Mutation

Incidental Mutation 'R0266:Slc6a5'

34931

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

038492-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0266 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49559894-49613604 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 49588156 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

Coding Region Coverage

1x: 98.3%
3x: 97.2%
10x: 94.9%
20x: 89.8%

Validation Efficiency

100% (79/79)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	A	G	12: 110,635,188 (GRCm39)	S117P	possibly damaging	Het
Aars2	T	C	17: 45,818,436 (GRCm39)		probably benign	Het
Acot11	T	C	4: 106,607,185 (GRCm39)	D466G	probably damaging	Het
Adgrd1	G	A	5: 129,216,658 (GRCm39)	A342T	probably benign	Het
Apbb2	A	T	5: 66,459,954 (GRCm39)	N714K	probably benign	Het
Aqp12	C	A	1: 92,934,572 (GRCm39)	H150N	possibly damaging	Het
Brinp3	T	A	1: 146,558,418 (GRCm39)	L114*	probably null	Het
Ccng2	T	C	5: 93,419,148 (GRCm39)		probably benign	Het
Cd36	T	A	5: 18,003,250 (GRCm39)	R265S	probably benign	Het
Ces4a	T	C	8: 105,868,598 (GRCm39)	L104S	probably benign	Het
Clca4b	T	C	3: 144,628,547 (GRCm39)	I387V	probably damaging	Het
Cul7	T	A	17: 46,965,521 (GRCm39)	H566Q	probably benign	Het
Ddx60	A	T	8: 62,486,527 (GRCm39)	H1646L	possibly damaging	Het
Dntt	T	C	19: 41,047,566 (GRCm39)	I503T	probably damaging	Het
Dynlt1a	T	G	17: 6,367,670 (GRCm39)	E2D	probably benign	Het
Efemp2	G	T	19: 5,528,027 (GRCm39)	C78F	probably damaging	Het
Esco1	T	C	18: 10,594,605 (GRCm39)	E227G	probably benign	Het
Fezf2	T	A	14: 12,342,607 (GRCm38)	K419N	probably damaging	Het
Gm17541	A	T	12: 4,739,487 (GRCm39)		probably benign	Het
Gm2381	G	A	7: 42,469,372 (GRCm39)	Q251*	probably null	Het
Gm4782	T	G	6: 50,587,674 (GRCm39)	S686R	probably damaging	Het
Grin3a	G	A	4: 49,665,501 (GRCm39)	R1045*	probably null	Het
Grm8	T	C	6: 27,285,895 (GRCm39)	Y839C	probably damaging	Het
Gtf3c1	G	A	7: 125,243,306 (GRCm39)	P1766L	possibly damaging	Het
Herc2	T	A	7: 55,856,326 (GRCm39)	H3921Q	probably damaging	Het
Hes6	A	T	1: 91,340,026 (GRCm39)	D143E	possibly damaging	Het
Hmcn2	A	G	2: 31,284,839 (GRCm39)	E2055G	probably benign	Het
Hmcn2	G	A	2: 31,335,365 (GRCm39)		probably benign	Het
Ikzf3	A	G	11: 98,358,143 (GRCm39)	L398P	probably benign	Het
Il10ra	A	T	9: 45,176,950 (GRCm39)	I125N	probably benign	Het
Kcnb2	G	A	1: 15,783,137 (GRCm39)		probably benign	Het
Krt77	T	C	15: 101,777,813 (GRCm39)	R81G	possibly damaging	Het
Lrrc40	T	A	3: 157,747,298 (GRCm39)		probably null	Het
Man1a2	C	T	3: 100,489,350 (GRCm39)	R543Q	probably damaging	Het
Mansc1	T	C	6: 134,587,670 (GRCm39)	D169G	probably benign	Het
Mdn1	T	A	4: 32,741,835 (GRCm39)	S3869T	probably damaging	Het
Mettl14	A	T	3: 123,176,475 (GRCm39)	S58T	probably benign	Het
Mrpl4	T	C	9: 20,914,610 (GRCm39)	V62A	probably benign	Het
Myh3	A	G	11: 66,984,498 (GRCm39)	D1085G	possibly damaging	Het
Myo5c	C	A	9: 75,191,498 (GRCm39)		probably benign	Het
Naalad2	G	T	9: 18,262,239 (GRCm39)		probably benign	Het
Nat3	A	G	8: 68,000,432 (GRCm39)	T104A	probably benign	Het
Nek4	A	G	14: 30,679,253 (GRCm39)	E198G	probably damaging	Het
Olfm1	A	G	2: 28,119,619 (GRCm39)	Y403C	probably damaging	Het
Or5w11	C	A	2: 87,459,626 (GRCm39)	T273K	possibly damaging	Het
Or7e177	A	T	9: 20,212,454 (GRCm39)	R320S	probably benign	Het
Osbpl1a	T	A	18: 13,004,220 (GRCm39)		probably null	Het
Pax7	G	A	4: 139,507,047 (GRCm39)	S330L	possibly damaging	Het
Pcdhb15	C	A	18: 37,608,329 (GRCm39)	D520E	probably damaging	Het
Pgm3	T	C	9: 86,449,586 (GRCm39)	T145A	probably benign	Het
Phox2b	G	A	5: 67,253,968 (GRCm39)		probably null	Het
Pik3r6	A	T	11: 68,417,234 (GRCm39)	R59*	probably null	Het
Pold1	A	G	7: 44,190,449 (GRCm39)		probably benign	Het
Ppp1r21	T	C	17: 88,876,500 (GRCm39)		probably benign	Het
Prl5a1	A	G	13: 28,333,970 (GRCm39)	K158E	possibly damaging	Het
Rag2	T	G	2: 101,460,948 (GRCm39)	C419W	probably damaging	Het
Reln	A	G	5: 22,193,774 (GRCm39)	S1395P	probably damaging	Het
Retnlb	T	G	16: 48,639,022 (GRCm39)	Y74*	probably null	Het
Robo3	A	G	9: 37,333,936 (GRCm39)	S633P	probably damaging	Het
Ryr1	A	G	7: 28,740,104 (GRCm39)	S3941P	probably damaging	Het
Scnn1b	A	G	7: 121,511,698 (GRCm39)	N370S	probably damaging	Het
Sort1	T	A	3: 108,252,247 (GRCm39)	N481K	probably benign	Het
Sptlc3	T	A	2: 139,437,957 (GRCm39)	I417K	possibly damaging	Het
Svil	T	A	18: 5,099,063 (GRCm39)		probably benign	Het
Taf4b	T	C	18: 14,946,134 (GRCm39)		probably benign	Het
Tchp	T	C	5: 114,847,394 (GRCm39)	M71T	possibly damaging	Het
Thsd4	T	A	9: 59,904,417 (GRCm39)	H233L	probably benign	Het
Tmem217	G	T	17: 29,745,573 (GRCm39)	N52K	possibly damaging	Het
Tmem38b	T	C	4: 53,840,765 (GRCm39)	L60S	probably damaging	Het
Uqcrfs1	A	C	13: 30,725,146 (GRCm39)	N131K	probably benign	Het
Vars1	T	A	17: 35,232,845 (GRCm39)	S896R	probably benign	Het
Vmn1r170	A	T	7: 23,305,906 (GRCm39)	M103L	probably benign	Het
Vmn2r22	T	C	6: 123,614,363 (GRCm39)	Y409C	probably damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Wdr49	A	T	3: 75,359,103 (GRCm39)	I8N	possibly damaging	Het
Zfp648	T	A	1: 154,080,632 (GRCm39)	Y264N	probably damaging	Het
Zmym1	A	C	4: 126,941,818 (GRCm39)	F857V	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
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
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'- GGTTTCAAGTGCAAGGCTGGTAAAG -3'
(R):5'- CTCTCCAAGAGGACATTGCATCCTG -3'

Sequencing Primer
(F):5'- TGTCCTGTCAGAAAGTCTGC -3'
(R):5'- TGTAGGTAGCCACTGAGCC -3'

Posted On

2013-05-09