Mutagenetix > Incidental Mutation

Incidental Mutation 'R7179:Slc1a2'

558819

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

045269-MU

Accession Numbers

Essential gene?

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

Stock #

R7179 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102489004-102621129 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102586290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 298 (K298R)

Ref Sequence

ENSEMBL: ENSMUSP00000079100 (fasta)

Gene Model

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

AlphaFold

P43006

Predicted Effect

probably damaging
Transcript: ENSMUST00000005220
AA Change: K295R

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

SMART Domains

Protein: ENSMUSP00000005220
Gene: ENSMUSG00000005089
AA Change: K295R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000080210
AA Change: K298R

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

SMART Domains

Protein: ENSMUSP00000079100
Gene: ENSMUSG00000005089
AA Change: K298R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111212
AA Change: K295R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106843
Gene: ENSMUSG00000005089
AA Change: K295R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111213
AA Change: K298R

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

SMART Domains

Protein: ENSMUSP00000106844
Gene: ENSMUSG00000005089
AA Change: K298R

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122094
Gene: ENSMUSG00000005089
AA Change: K13R

Domain	Start	End	E-Value	Type
Pfam:SDF	1	144	2.6e-53	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

100% (76/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot13	A	T	13: 25,002,154 (GRCm39)	I96K	probably benign	Het
Adam6a	A	G	12: 113,509,291 (GRCm39)	T555A	probably benign	Het
Alms1	C	T	6: 85,598,351 (GRCm39)	P1059L	probably benign	Het
Apol7c	T	C	15: 77,409,843 (GRCm39)	T368A	probably benign	Het
Arfgef3	A	T	10: 18,475,015 (GRCm39)	L1557Q	probably damaging	Het
Baz2a	C	T	10: 127,960,326 (GRCm39)	R1514W	probably damaging	Het
Bmp3	T	A	5: 99,020,622 (GRCm39)	D348E	probably damaging	Het
Bves	A	G	10: 45,230,913 (GRCm39)	S295G	probably damaging	Het
Carmil1	A	G	13: 24,204,052 (GRCm39)	C1328R	probably benign	Het
Ccnk	T	A	12: 108,153,517 (GRCm39)	Y93N	probably damaging	Het
Ccr1	A	T	9: 123,764,089 (GRCm39)	V147D	probably damaging	Het
Cd24a	G	A	10: 43,458,636 (GRCm39)	G36S	probably benign	Het
Cep104	A	G	4: 154,077,324 (GRCm39)	Y569C	probably damaging	Het
Chd2	A	T	7: 73,125,168 (GRCm39)	I884N	probably damaging	Het
Cnst	A	T	1: 179,406,947 (GRCm39)		probably benign	Het
Col22a1	A	G	15: 71,805,262 (GRCm39)	L146P	unknown	Het
Col25a1	G	T	3: 130,323,768 (GRCm39)	R321L	probably damaging	Het
Ctnnd2	T	C	15: 30,683,510 (GRCm39)	Y504H	possibly damaging	Het
D3Ertd751e	C	A	3: 41,703,143 (GRCm39)	Q73K	probably damaging	Het
Dsc2	C	T	18: 20,168,332 (GRCm39)		probably null	Het
Eya1	A	T	1: 14,373,076 (GRCm39)	S14R	probably damaging	Het
Fam131c	A	T	4: 141,110,328 (GRCm39)		probably null	Het
Flvcr2	T	C	12: 85,793,965 (GRCm39)	F114L	possibly damaging	Het
Fyn	A	G	10: 39,408,120 (GRCm39)	D321G	possibly damaging	Het
Galnt5	A	C	2: 57,888,621 (GRCm39)	M74L	probably benign	Het
Garin4	G	A	1: 190,896,218 (GRCm39)	R142C	probably damaging	Het
Gas2l2	G	A	11: 83,313,288 (GRCm39)	P675S	probably benign	Het
Gm9508	G	T	10: 77,532,470 (GRCm39)	Q200K	unknown	Het
Greb1l	G	A	18: 10,544,576 (GRCm39)	S1390N	probably benign	Het
Hdac5	G	T	11: 102,095,385 (GRCm39)	T430K	possibly damaging	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Khnyn	C	T	14: 56,131,811 (GRCm39)	P578S	probably damaging	Het
Lepr	A	T	4: 101,602,856 (GRCm39)	T215S	probably benign	Het
Lrfn5	G	A	12: 61,890,768 (GRCm39)	V686I	probably benign	Het
Mapkap1	T	A	2: 34,408,712 (GRCm39)	H233Q	possibly damaging	Het
Mcm3	A	G	1: 20,885,081 (GRCm39)	I201T	probably damaging	Het
Metrnl	G	A	11: 121,606,734 (GRCm39)	R263Q	probably damaging	Het
Mettl22	A	G	16: 8,295,924 (GRCm39)	E71G	probably benign	Het
Muc16	T	C	9: 18,553,304 (GRCm39)	T4330A	probably benign	Het
Mug1	A	G	6: 121,834,379 (GRCm39)	T387A	probably benign	Het
Myh4	A	G	11: 67,135,550 (GRCm39)	D379G	probably benign	Het
Nbas	A	G	12: 13,455,398 (GRCm39)	D1204G	possibly damaging	Het
Ncor2	T	C	5: 125,132,847 (GRCm39)	K478E	unknown	Het
Or14a256	A	T	7: 86,265,574 (GRCm39)	L93Q	possibly damaging	Het
Or51d1	A	G	7: 102,347,477 (GRCm39)	T11A	probably benign	Het
Or5k1	T	A	16: 58,617,250 (GRCm39)	I320F	probably benign	Het
Osbpl7	G	A	11: 96,941,662 (GRCm39)	V62I	probably benign	Het
Pak1ip1	A	G	13: 41,163,018 (GRCm39)	N246S	probably damaging	Het
Prim1	A	G	10: 127,851,845 (GRCm39)	Y39C	probably damaging	Het
Prl3b1	G	T	13: 27,427,827 (GRCm39)	V46L	probably benign	Het
Prss54	A	T	8: 96,292,199 (GRCm39)	S127T	probably benign	Het
Rasal3	G	A	17: 32,611,391 (GRCm39)	T912M	probably damaging	Het
Rrp12	T	A	19: 41,872,217 (GRCm39)	T420S	probably benign	Het
Rspo1	A	G	4: 124,898,831 (GRCm39)	N51D	probably damaging	Het
Rufy4	A	G	1: 74,172,035 (GRCm39)	R253G	probably benign	Het
Scaf1	G	A	7: 44,657,167 (GRCm39)	R571C	unknown	Het
Scn2a	A	T	2: 65,532,323 (GRCm39)	H645L	probably damaging	Het
Sec24b	A	G	3: 129,782,595 (GRCm39)	S1132P	probably damaging	Het
Slc25a54	T	A	3: 109,014,573 (GRCm39)	N230K	probably benign	Het
Slc27a4	T	G	2: 29,705,664 (GRCm39)	Y617*	probably null	Het
Slc2a10	T	C	2: 165,357,269 (GRCm39)	S310P	probably damaging	Het
Snx33	C	T	9: 56,833,151 (GRCm39)	R306H	probably damaging	Het
Spag9	A	T	11: 93,980,258 (GRCm39)		probably null	Het
Spg11	A	T	2: 121,932,270 (GRCm39)		probably null	Het
Sycp2l	A	G	13: 41,283,258 (GRCm39)	T165A	probably damaging	Het
Syt14	A	G	1: 192,615,571 (GRCm39)	C189R	probably damaging	Het
Taar9	A	T	10: 23,984,882 (GRCm39)	L184Q	probably damaging	Het
Tkt	C	T	14: 30,281,815 (GRCm39)	P111L	probably damaging	Het
Trpc1	A	T	9: 95,603,197 (GRCm39)	L445Q	possibly damaging	Het
Usp53	A	G	3: 122,743,359 (GRCm39)	S526P	probably benign	Het
Vps54	T	G	11: 21,248,791 (GRCm39)	W447G	probably damaging	Het
Xirp2	A	T	2: 67,340,177 (GRCm39)	H806L	probably benign	Het
Zfp451	A	T	1: 33,841,651 (GRCm39)	H410Q	unknown	Het
Zfp688	A	G	7: 127,018,484 (GRCm39)	C214R	probably damaging	Het
Zic4	A	G	9: 91,261,174 (GRCm39)	D143G	possibly 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
R1965:Slc1a2	UTSW	2	102,570,245 (GRCm39)	missense	probably damaging	1.00
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
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'- GGATCTTGTGTTCTTTCTCAGCAAAAC -3'
(R):5'- AGTTCCCAGAGCAGTGATCC -3'

Sequencing Primer
(F):5'- CTTTCTCAGCAAAACAGAGTGTGTG -3'
(R):5'- CAGAGCAGTGATCCAGGCTTG -3'

Posted On

2019-06-26