Mutagenetix > Incidental Mutation

Incidental Mutation 'R1965:Slc1a2'

218252

Institutional Source

Beutler Lab

Gene Symbol

Slc1a2

Ensembl Gene

ENSMUSG00000005089

Gene Name

solute carrier family 1 (glial high affinity glutamate transporter), member 2

Synonyms

GLT-1, Eaat2, GLT1, 2900019G14Rik, MGLT1, 1700091C19Rik

MMRRC Submission

039978-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.361) question?

Stock #

R1965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102489004-102621129 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102570245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 174 (N174K)

Ref Sequence

ENSEMBL: ENSMUSP00000106844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005220] [ENSMUST00000080210] [ENSMUST00000111212] [ENSMUST00000111213] [ENSMUST00000123759]

AlphaFold

P43006

Predicted Effect

probably damaging
Transcript: ENSMUST00000005220
AA Change: N171K

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

SMART Domains

Protein: ENSMUSP00000005220
Gene: ENSMUSG00000005089
AA Change: N171K

Domain	Start	End	E-Value	Type
Pfam:SDF	43	492	8.9e-137	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000080210
AA Change: N174K

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

SMART Domains

Protein: ENSMUSP00000079100
Gene: ENSMUSG00000005089
AA Change: N174K

Domain	Start	End	E-Value	Type
Pfam:SDF	46	495	3e-133	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111212
AA Change: N171K

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

SMART Domains

Protein: ENSMUSP00000106843
Gene: ENSMUSG00000005089
AA Change: N171K

Domain	Start	End	E-Value	Type
Pfam:SDF	43	492	9.5e-137	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111213
AA Change: N174K

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

SMART Domains

Protein: ENSMUSP00000106844
Gene: ENSMUSG00000005089
AA Change: N174K

Domain	Start	End	E-Value	Type
Pfam:SDF	46	495	2e-134	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123759

SMART Domains

Protein: ENSMUSP00000115129
Gene: ENSMUSG00000005089

Domain	Start	End	E-Value	Type
Pfam:SDF	37	157	4.5e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128622

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137466

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147082

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Mutations in and decreased expression of this protein are associated with amyotrophic lateral sclerosis. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display spontaneous seizures often leading to death as well as a succeptibility to neuronal degeneration. [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
Aco1	T	G	4: 40,175,730 (GRCm39)	L157R	probably damaging	Het
Acot11	A	T	4: 106,606,550 (GRCm39)	L513Q	probably damaging	Het
Amd1	A	G	10: 40,170,755 (GRCm39)	I52T	probably benign	Het
Ap2b1	T	C	11: 83,237,721 (GRCm39)	I557T	probably benign	Het
Arel1	T	A	12: 84,987,173 (GRCm39)		probably null	Het
Arg1	T	A	10: 24,792,762 (GRCm39)		probably null	Het
Atf1	A	T	15: 100,152,052 (GRCm39)	M135L	probably benign	Het
Atf2	T	C	2: 73,681,242 (GRCm39)	E77G	possibly damaging	Het
Axin1	G	T	17: 26,403,199 (GRCm39)	A394S	probably damaging	Het
Axin1	A	T	17: 26,409,202 (GRCm39)	Q734L	probably damaging	Het
Brd8	G	C	18: 34,735,819 (GRCm39)	A886G	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Celf3	T	C	3: 94,392,634 (GRCm39)	V35A	probably damaging	Het
Cfap299	T	A	5: 98,494,093 (GRCm39)	D32E	probably damaging	Het
Ckap2	T	C	8: 22,665,803 (GRCm39)	T415A	possibly damaging	Het
Crybg3	T	C	16: 59,323,600 (GRCm39)	Y1066C	probably damaging	Het
Csmd3	T	C	15: 47,713,144 (GRCm39)	H1506R	probably benign	Het
Dnah10	A	G	5: 124,852,267 (GRCm39)	D1808G	probably damaging	Het
Dsc3	C	T	18: 20,113,729 (GRCm39)	G398R	probably damaging	Het
Emc2	A	G	15: 43,390,863 (GRCm39)	Q293R	probably damaging	Het
Evc2	A	G	5: 37,520,876 (GRCm39)	N251D	possibly damaging	Het
Fam151a	A	T	4: 106,591,112 (GRCm39)		probably benign	Het
Fbxw16	T	A	9: 109,270,289 (GRCm39)	I151F	probably damaging	Het
Fmnl2	A	G	2: 53,004,880 (GRCm39)	D658G	probably damaging	Het
Fnip2	G	A	3: 79,400,779 (GRCm39)	T314I	probably benign	Het
Foxc2	T	A	8: 121,843,413 (GRCm39)	S20R	probably damaging	Het
Fpr-rs6	C	T	17: 20,402,918 (GRCm39)	G148R	probably damaging	Het
Fsip2	T	C	2: 82,823,124 (GRCm39)	S6286P	possibly damaging	Het
Fyb2	A	T	4: 104,770,846 (GRCm39)	I54F	probably benign	Het
Gbf1	T	C	19: 46,260,003 (GRCm39)	F999L	probably damaging	Het
Gldc	G	A	19: 30,114,513 (GRCm39)	R466*	probably null	Het
Gm12695	T	A	4: 96,651,082 (GRCm39)	S124C	probably benign	Het
Gm4846	A	T	1: 166,314,533 (GRCm39)	I370N	possibly damaging	Het
Gsdmc3	T	C	15: 63,730,296 (GRCm39)	T423A	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kcnmb3	T	C	3: 32,526,492 (GRCm39)	Y233C	probably damaging	Het
Kidins220	A	G	12: 25,044,905 (GRCm39)	D191G	probably damaging	Het
Kmt2a	A	G	9: 44,732,757 (GRCm39)		probably benign	Het
Krt1	T	C	15: 101,757,427 (GRCm39)	D261G	probably benign	Het
Lrba	A	G	3: 86,513,175 (GRCm39)		probably null	Het
Myo1f	C	T	17: 33,817,146 (GRCm39)	R730*	probably null	Het
Ncoa7	C	A	10: 30,530,426 (GRCm39)	E30*	probably null	Het
Neurod4	T	A	10: 130,106,918 (GRCm39)	K119*	probably null	Het
Npy5r	T	C	8: 67,133,929 (GRCm39)	D288G	probably benign	Het
Nr3c2	A	T	8: 77,636,092 (GRCm39)	I398L	probably damaging	Het
Or10a5	T	C	7: 106,635,565 (GRCm39)	S68P	probably damaging	Het
Or12j4	C	A	7: 140,046,574 (GRCm39)	F153L	probably benign	Het
Or4b1	T	C	2: 89,979,748 (GRCm39)	S201G	probably damaging	Het
Or4k35	T	C	2: 111,099,938 (GRCm39)	Y258C	probably damaging	Het
Or51v8	A	T	7: 103,320,103 (GRCm39)	I45N	probably damaging	Het
Or5g25	T	C	2: 85,478,090 (GRCm39)	T192A	possibly damaging	Het
Or5w8	A	G	2: 87,687,759 (GRCm39)	K80R	probably benign	Het
Or9m1b	A	G	2: 87,836,648 (GRCm39)	F149S	probably damaging	Het
P3r3urf	G	A	4: 116,031,376 (GRCm39)	C82Y	probably damaging	Het
Pcf11	A	T	7: 92,310,809 (GRCm39)	M393K	probably benign	Het
Pck2	T	C	14: 55,779,964 (GRCm39)	V71A	probably benign	Het
Pdzd8	G	T	19: 59,288,554 (GRCm39)	L949I	probably benign	Het
Pdzrn4	G	A	15: 92,644,190 (GRCm39)		probably null	Het
Phospho1	A	G	11: 95,721,705 (GRCm39)	N125S	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Ppid	A	T	3: 79,509,606 (GRCm39)	K308*	probably null	Het
Ppp1r1b	A	G	11: 98,246,189 (GRCm39)	E57G	probably damaging	Het
Prtg	T	G	9: 72,755,604 (GRCm39)	S269A	probably benign	Het
Rbbp5	T	A	1: 132,422,035 (GRCm39)	S312T	probably damaging	Het
Rbm11	T	A	16: 75,395,656 (GRCm39)		probably null	Het
Retreg1	A	G	15: 25,970,250 (GRCm39)	T139A	probably damaging	Het
Riok3	T	A	18: 12,270,019 (GRCm39)	H120Q	probably damaging	Het
Rln1	A	T	19: 29,311,995 (GRCm39)	M1K	probably null	Het
Rpp30	C	T	19: 36,066,549 (GRCm39)	S94L	probably damaging	Het
Sccpdh	C	T	1: 179,511,879 (GRCm39)	P117L	probably damaging	Het
Serac1	T	C	17: 6,099,274 (GRCm39)	K506E	possibly damaging	Het
Serping1	G	T	2: 84,596,072 (GRCm39)	T454K	probably damaging	Het
Slc2a2	A	G	3: 28,773,634 (GRCm39)	Q313R	probably damaging	Het
Slc46a2	T	A	4: 59,914,249 (GRCm39)	S225C	probably damaging	Het
Smarcc2	G	A	10: 128,310,627 (GRCm39)	E419K	probably damaging	Het
Stkld1	T	A	2: 26,836,744 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,241,162 (GRCm39)	M1704T	probably benign	Het
Tasor	T	G	14: 27,164,511 (GRCm39)	C272W	probably damaging	Het
Tfcp2l1	C	T	1: 118,580,653 (GRCm39)	Q116*	probably null	Het
Timm44	A	G	8: 4,310,603 (GRCm39)	M383T	possibly damaging	Het
Tnpo2	G	A	8: 85,771,946 (GRCm39)		probably null	Het
Tnrc6b	A	G	15: 80,764,640 (GRCm39)	K714R	probably damaging	Het
Wdfy3	A	G	5: 102,099,178 (GRCm39)	L290P	probably damaging	Het
Wdr59	A	G	8: 112,177,709 (GRCm39)	F898L	probably damaging	Het
Zfp120	A	T	2: 149,959,318 (GRCm39)	C335S	probably damaging	Het
Zfp518a	T	C	19: 40,901,954 (GRCm39)	S628P	probably benign	Het
Zfp879	A	T	11: 50,724,355 (GRCm39)	C234S	probably damaging	Het

Other mutations in Slc1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Slc1a2	APN	2	102,607,921 (GRCm39)	missense	possibly damaging	0.55
IGL00588:Slc1a2	APN	2	102,586,346 (GRCm39)	missense	probably benign
IGL00931:Slc1a2	APN	2	102,586,457 (GRCm39)	missense	probably damaging	1.00
IGL00942:Slc1a2	APN	2	102,570,159 (GRCm39)	missense	probably damaging	1.00
IGL02100:Slc1a2	APN	2	102,586,434 (GRCm39)	missense	probably damaging	1.00
IGL02173:Slc1a2	APN	2	102,574,206 (GRCm39)	missense	probably benign	0.05
IGL02184:Slc1a2	APN	2	102,578,889 (GRCm39)	missense	probably damaging	1.00
IGL02480:Slc1a2	APN	2	102,566,411 (GRCm39)	missense	probably damaging	1.00
IGL02643:Slc1a2	APN	2	102,570,225 (GRCm39)	missense	probably benign	0.30
IGL03332:Slc1a2	APN	2	102,578,879 (GRCm39)	missense	possibly damaging	0.96
R0335:Slc1a2	UTSW	2	102,574,208 (GRCm39)	missense	probably benign
R0544:Slc1a2	UTSW	2	102,586,417 (GRCm39)	missense	probably damaging	0.99
R0570:Slc1a2	UTSW	2	102,586,352 (GRCm39)	missense	probably damaging	1.00
R1472:Slc1a2	UTSW	2	102,568,254 (GRCm39)	missense	probably damaging	1.00
R1536:Slc1a2	UTSW	2	102,607,855 (GRCm39)	missense	probably benign	0.37
R1856:Slc1a2	UTSW	2	102,607,912 (GRCm39)	missense	probably damaging	0.97
R1936:Slc1a2	UTSW	2	102,607,950 (GRCm39)	missense	probably benign	0.04
R2270:Slc1a2	UTSW	2	102,566,339 (GRCm39)	missense	probably damaging	1.00
R2365:Slc1a2	UTSW	2	102,578,798 (GRCm39)	splice site	probably null
R2567:Slc1a2	UTSW	2	102,597,355 (GRCm39)	missense	probably damaging	1.00
R2878:Slc1a2	UTSW	2	102,591,512 (GRCm39)	missense	probably damaging	1.00
R3080:Slc1a2	UTSW	2	102,578,901 (GRCm39)	missense	probably damaging	1.00
R4716:Slc1a2	UTSW	2	102,578,883 (GRCm39)	missense	probably damaging	0.96
R4744:Slc1a2	UTSW	2	102,568,214 (GRCm39)	missense	probably benign	0.41
R5197:Slc1a2	UTSW	2	102,586,460 (GRCm39)	missense	probably benign	0.02
R5835:Slc1a2	UTSW	2	102,607,795 (GRCm39)	missense	probably damaging	1.00
R7077:Slc1a2	UTSW	2	102,607,855 (GRCm39)	missense	probably benign	0.37
R7155:Slc1a2	UTSW	2	102,597,340 (GRCm39)	missense	probably damaging	1.00
R7179:Slc1a2	UTSW	2	102,586,290 (GRCm39)	missense	probably damaging	1.00
R7455:Slc1a2	UTSW	2	102,566,299 (GRCm39)	missense	probably benign	0.16
R7492:Slc1a2	UTSW	2	102,570,275 (GRCm39)	nonsense	probably null
R7818:Slc1a2	UTSW	2	102,574,301 (GRCm39)	missense	probably benign	0.06
R7868:Slc1a2	UTSW	2	102,591,530 (GRCm39)	missense	probably benign	0.06
R8143:Slc1a2	UTSW	2	102,568,230 (GRCm39)	missense	probably damaging	1.00
R8184:Slc1a2	UTSW	2	102,568,197 (GRCm39)	missense	probably damaging	1.00
R8436:Slc1a2	UTSW	2	102,586,298 (GRCm39)	missense	possibly damaging	0.65
R8508:Slc1a2	UTSW	2	102,566,430 (GRCm39)	critical splice donor site	probably null
R8830:Slc1a2	UTSW	2	102,566,360 (GRCm39)	missense	probably benign
R8951:Slc1a2	UTSW	2	102,586,353 (GRCm39)	missense	probably damaging	1.00
R9424:Slc1a2	UTSW	2	102,591,394 (GRCm39)	missense	probably damaging	1.00
X0065:Slc1a2	UTSW	2	102,568,176 (GRCm39)	missense	probably benign	0.12
Z1177:Slc1a2	UTSW	2	102,591,470 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCAGGCCTGGATGCTAAAG -3'
(R):5'- GCCTTAGAATACTCCAGAGCATATCAC -3'

Sequencing Primer
(F):5'- CTGGATGCTAAAGCCAGCG -3'
(R):5'- GCATATCACGAAACACTCAAGCCTG -3'

Posted On

2014-08-01