Mutagenetix > Incidental Mutation

Incidental Mutation 'R9300:Slc6a5'

704859

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9300 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49559894-49613604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49601175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 659 (I659F)

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

probably damaging
Transcript: ENSMUST00000056442
AA Change: I659F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: I659F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107605
AA Change: I659F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: I659F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000207753
AA Change: I659F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000209172

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	G	A	5: 8,875,614 (GRCm39)	V596I	probably benign	Het
Acad8	A	T	9: 26,888,928 (GRCm39)	H371Q	probably damaging	Het
Actn3	G	T	19: 4,921,656 (GRCm39)	R175S	probably benign	Het
Adamts9	G	T	6: 92,864,371 (GRCm39)	D780E	probably benign	Het
AK157302	C	A	13: 21,679,537 (GRCm39)	T21K	probably benign	Het
Ank3	A	T	10: 69,706,872 (GRCm39)	H329L	unknown	Het
Ankrd36	A	G	11: 5,519,979 (GRCm39)	H18R	possibly damaging	Het
Anks1b	T	A	10: 90,412,966 (GRCm39)	V38D	possibly damaging	Het
Apbb2	A	T	5: 66,470,677 (GRCm39)	L520H	probably damaging	Het
Arid1b	C	A	17: 5,293,274 (GRCm39)	P731T	probably damaging	Het
Atp1a4	A	G	1: 172,067,398 (GRCm39)	F578S	probably damaging	Het
Atp6v0a2	A	T	5: 124,789,312 (GRCm39)	I360F	probably damaging	Het
Bcas3	A	T	11: 85,448,184 (GRCm39)	I600F	probably damaging	Het
C1qtnf7	T	G	5: 43,766,441 (GRCm39)	C20W	possibly damaging	Het
Cadm1	A	T	9: 47,708,821 (GRCm39)	K184*	probably null	Het
Ccdc138	A	T	10: 58,343,448 (GRCm39)	H101L	probably benign	Het
Cep120	T	A	18: 53,852,369 (GRCm39)	N503I	probably damaging	Het
Chil4	T	C	3: 106,109,874 (GRCm39)	T380A	probably benign	Het
Clip2	A	G	5: 134,526,942 (GRCm39)		probably null	Het
Cyp3a11	G	A	5: 145,799,164 (GRCm39)	P341L	possibly damaging	Het
Cyp3a41a	G	C	5: 145,656,906 (GRCm39)		probably benign	Het
Dcaf1	A	G	9: 106,725,042 (GRCm39)	I509M	possibly damaging	Het
Dcaf13	T	C	15: 39,010,102 (GRCm39)	S429P	probably damaging	Het
Eln	A	G	5: 134,758,220 (GRCm39)	V151A	unknown	Het
Endou	T	G	15: 97,610,954 (GRCm39)	M377L	probably benign	Het
Etfa	A	G	9: 55,396,152 (GRCm39)	I138T	probably damaging	Het
Fbxw10	T	A	11: 62,768,109 (GRCm39)	S982T	probably benign	Het
Gm9602	A	T	14: 15,933,435 (GRCm39)	R47*	probably null	Het
Hectd4	G	A	5: 121,486,952 (GRCm39)	V3316I	probably benign	Het
Hif1a	T	C	12: 73,987,302 (GRCm39)	L477S	probably benign	Het
Icam5	G	C	9: 20,946,846 (GRCm39)	G458A	probably benign	Het
Itm2b	A	T	14: 73,603,896 (GRCm39)	D106E	probably benign	Het
Kdm4d	G	A	9: 14,375,336 (GRCm39)	T174M	probably damaging	Het
Kif16b	G	T	2: 142,541,207 (GRCm39)	D1364E	probably benign	Het
Lbhd1	G	A	19: 8,861,550 (GRCm39)	V61M	probably damaging	Het
Lclat1	T	A	17: 73,546,919 (GRCm39)	S279T	probably benign	Het
Lhx4	G	A	1: 155,580,956 (GRCm39)	L190F	probably damaging	Het
Lima1	C	T	15: 99,704,320 (GRCm39)	S283N	probably benign	Het
Magi1	C	A	6: 93,724,209 (GRCm39)	D496Y	probably damaging	Het
Map1a	T	C	2: 121,133,446 (GRCm39)	S1421P	probably damaging	Het
Map3k20	C	T	2: 72,202,257 (GRCm39)	H163Y	probably damaging	Het
Mier3	T	G	13: 111,822,890 (GRCm39)		probably null	Het
Mllt3	G	A	4: 87,692,284 (GRCm39)	Q560*	probably null	Het
Mmp25	T	A	17: 23,851,728 (GRCm39)	D327V	probably benign	Het
Nckap5	G	A	1: 125,909,423 (GRCm39)	Q1603*	probably null	Het
Nell1	G	A	7: 49,712,368 (GRCm39)	V63I	probably benign	Het
Or10al3	C	T	17: 38,011,815 (GRCm39)	P85S	probably damaging	Het
Or2ag2b	A	T	7: 106,418,111 (GRCm39)	I274F	probably benign	Het
Or8a1	A	C	9: 37,641,578 (GRCm39)	S234A	probably benign	Het
Pde12	C	T	14: 26,386,931 (GRCm39)	E526K	probably damaging	Het
Pfn4	T	C	12: 4,825,442 (GRCm39)	V93A	possibly damaging	Het
Poglut2	A	G	1: 44,156,362 (GRCm39)	I75T	possibly damaging	Het
Ppp2r3d	A	G	9: 124,423,977 (GRCm38)	S60P	unknown	Het
Prelp	T	C	1: 133,842,257 (GRCm39)	H296R	probably damaging	Het
Prickle1	T	C	15: 93,398,749 (GRCm39)	E693G	possibly damaging	Het
Rars1	A	G	11: 35,706,488 (GRCm39)	L477P	probably damaging	Het
Rasal1	G	A	5: 120,802,172 (GRCm39)	R328H	probably damaging	Het
Rasef	A	G	4: 73,659,393 (GRCm39)	F220S	probably benign	Het
Rif1	C	T	2: 52,001,151 (GRCm39)	S1535L	probably damaging	Het
Rnf17	T	C	14: 56,697,495 (GRCm39)	I463T	possibly damaging	Het
Ryr3	A	T	2: 112,690,695 (GRCm39)	D1138E	probably benign	Het
Scn9a	T	A	2: 66,335,236 (GRCm39)	Y1251F	probably benign	Het
Sdk2	A	G	11: 113,715,856 (GRCm39)	W1568R	possibly damaging	Het
Senp6	A	G	9: 80,049,433 (GRCm39)	E1019G	probably damaging	Het
Shh	A	G	5: 28,663,461 (GRCm39)	Y236H	probably damaging	Het
Sin3a	A	G	9: 57,014,744 (GRCm39)	D655G	probably damaging	Het
Slc35a4	C	T	18: 36,815,274 (GRCm39)	P35S	probably damaging	Het
Slc35g1	T	C	19: 38,384,633 (GRCm39)	L24P	probably benign	Het
Slc39a4	G	T	15: 76,498,759 (GRCm39)	Q312K	probably damaging	Het
Slc7a4	T	C	16: 17,392,399 (GRCm39)	Y345C	probably benign	Het
Slco6c1	G	T	1: 96,993,809 (GRCm39)	R645S	probably benign	Het
Soat1	T	C	1: 156,268,923 (GRCm39)	Y209C	probably benign	Het
Tbc1d9b	T	C	11: 50,054,714 (GRCm39)	S953P	probably benign	Het
Tgm1	G	A	14: 55,942,303 (GRCm39)	H683Y	probably benign	Het
Tmem98	G	A	11: 80,708,432 (GRCm39)	R134Q	probably damaging	Het
Trpm3	A	C	19: 22,955,745 (GRCm39)	M1107L	possibly damaging	Het
Vmn1r11	G	A	6: 57,114,872 (GRCm39)	V179I	probably benign	Het
Vmn1r119	G	T	7: 20,745,638 (GRCm39)	T248K	probably damaging	Het
Vmn1r236	T	A	17: 21,506,945 (GRCm39)	I21N	possibly damaging	Het
Vmn2r24	A	G	6: 123,793,030 (GRCm39)	T786A	possibly damaging	Het
Vstm5	A	T	9: 15,168,585 (GRCm39)	I50F	probably damaging	Het
Wdr1	T	C	5: 38,685,255 (GRCm39)	D572G	probably damaging	Het
Xaf1	T	C	11: 72,192,517 (GRCm39)	F5S	probably benign	Het
Zan	A	T	5: 137,468,519 (GRCm39)		probably null	Het
Zfp697	T	C	3: 98,334,979 (GRCm39)	V248A	possibly damaging	Het
Zftraf1	C	A	15: 76,530,541 (GRCm39)	V260L	probably benign	Het
Zkscan3	T	A	13: 21,577,667 (GRCm39)	T249S	unknown	Het
Znfx1	A	G	2: 166,897,860 (GRCm39)	Y355H	probably 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
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
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'- TGTACCTCACACATGGCCTCTG -3'
(R):5'- TGGAGTTCAGTCGCTTCTCC -3'

Sequencing Primer
(F):5'- ACACATGGCCTCTGCTGTC -3'
(R):5'- TACAGTACACTCGCCTTGGAAG -3'

Posted On

2022-03-25