Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01110:Gria1'

52317

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gria1

Ensembl Gene

ENSMUSG00000020524

Gene Name

glutamate receptor, ionotropic, AMPA1 (alpha 1)

Synonyms

Glur-1, Glr-1, Glur1, GluR1, 2900051M01Rik, Glr1, HIPA1, GluR-A, GluA1, GluRA

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01110

Quality Score

Status

Chromosome

Chromosomal Location

56902342-57221070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57180207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 650 (E650G)

Ref Sequence

ENSEMBL: ENSMUSP00000117746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036315] [ENSMUST00000094179] [ENSMUST00000151045]

AlphaFold

P23818

Predicted Effect

probably damaging
Transcript: ENSMUST00000036315
AA Change: E719G

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

SMART Domains

Protein: ENSMUSP00000044494
Gene: ENSMUSG00000020524
AA Change: E719G

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	37	372	9.3e-63	PFAM
PBPe	408	783	3.65e-121	SMART
Lig_chan-Glu_bd	418	483	1.65e-29	SMART
low complexity region	863	874	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000094179
AA Change: E719G

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

SMART Domains

Protein: ENSMUSP00000091731
Gene: ENSMUSG00000020524
AA Change: E719G

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	37	372	3.7e-69	PFAM
PBPe	408	783	2.09e-121	SMART
Lig_chan-Glu_bd	418	483	1.65e-29	SMART
low complexity region	863	874	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000151045
AA Change: E650G

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

SMART Domains

Protein: ENSMUSP00000117746
Gene: ENSMUSG00000020524
AA Change: E650G

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	1	303	4.7e-58	PFAM
PBPe	339	714	3.65e-121	SMART
Lig_chan-Glu_bd	349	414	1.65e-29	SMART
transmembrane domain	739	761	N/A	INTRINSIC
low complexity region	794	805	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice with mutations in phosphorylation sites have LTD and LTP deficits and spatial learning memory defects. Null homozygotes also show stimulus-reward learning deficits and increases locomotor activity and context-dependent sensitization to amphetamine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bbs1	G	A	19: 4,942,953 (GRCm39)	S479L	possibly damaging	Het
Capn6	G	T	X: 142,590,246 (GRCm39)	P385H	probably damaging	Het
Cavin1	C	A	11: 100,861,300 (GRCm39)		probably benign	Het
Cdh9	A	G	15: 16,856,012 (GRCm39)	D684G	possibly damaging	Het
Dlgap5	A	G	14: 47,631,783 (GRCm39)		probably benign	Het
Doc2g	A	G	19: 4,056,577 (GRCm39)	E321G	probably damaging	Het
Eef1akmt1	A	C	14: 57,787,247 (GRCm39)	F210V	probably damaging	Het
Eya1	A	G	1: 14,353,354 (GRCm39)	S65P	probably damaging	Het
Gpx8	C	T	13: 113,182,218 (GRCm39)	V72I	probably benign	Het
Hic1	A	T	11: 75,056,345 (GRCm39)	L848Q	possibly damaging	Het
Mmp1b	C	T	9: 7,384,921 (GRCm39)	D243N	probably benign	Het
Mov10l1	G	T	15: 88,905,460 (GRCm39)	V872L	probably benign	Het
Or8g50	T	C	9: 39,648,693 (GRCm39)	V194A	probably benign	Het
Or8h9	C	T	2: 86,789,265 (GRCm39)	C179Y	possibly damaging	Het
Otof	A	G	5: 30,619,069 (GRCm39)	F25S	probably damaging	Het
Patj	A	C	4: 98,301,261 (GRCm39)	N182T	probably damaging	Het
Pik3r6	G	A	11: 68,419,652 (GRCm39)		probably null	Het
Ppil6	G	A	10: 41,374,406 (GRCm39)	V96I	probably benign	Het
Sardh	T	A	2: 27,105,125 (GRCm39)	Q666L	probably benign	Het
Tasp1	A	G	2: 139,819,538 (GRCm39)	S222P	probably damaging	Het
Tln2	G	T	9: 67,157,864 (GRCm39)	C1158*	probably null	Het
Zfp707	T	A	15: 75,847,044 (GRCm39)	C292S	probably damaging	Het
Zfp956	A	G	6: 47,940,346 (GRCm39)	E235G	probably benign	Het

Other mutations in Gria1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Gria1	APN	11	57,133,767 (GRCm39)	nonsense	probably null
IGL00807:Gria1	APN	11	56,902,866 (GRCm39)	missense	probably benign
IGL00816:Gria1	APN	11	57,208,568 (GRCm39)	missense	possibly damaging	0.93
IGL01116:Gria1	APN	11	57,127,801 (GRCm39)	missense	probably damaging	1.00
IGL01120:Gria1	APN	11	57,208,495 (GRCm39)	missense	probably damaging	0.99
IGL01843:Gria1	APN	11	57,208,600 (GRCm39)	missense	probably damaging	1.00
IGL02135:Gria1	APN	11	57,076,679 (GRCm39)	missense	probably damaging	1.00
IGL02308:Gria1	APN	11	57,127,750 (GRCm39)	missense	probably benign	0.00
IGL02554:Gria1	APN	11	57,180,314 (GRCm39)	missense	possibly damaging	0.72
IGL02813:Gria1	APN	11	57,174,410 (GRCm39)	missense	probably damaging	1.00
IGL03071:Gria1	APN	11	56,902,936 (GRCm39)	splice site	probably null
IGL03326:Gria1	APN	11	57,208,599 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Gria1	UTSW	11	57,076,664 (GRCm39)	missense	probably damaging	1.00
R0087:Gria1	UTSW	11	57,208,538 (GRCm39)	missense	probably damaging	1.00
R0387:Gria1	UTSW	11	57,200,710 (GRCm39)	critical splice donor site	probably null
R0399:Gria1	UTSW	11	57,076,853 (GRCm39)	missense	probably damaging	0.97
R0502:Gria1	UTSW	11	57,080,542 (GRCm39)	missense	probably damaging	1.00
R0503:Gria1	UTSW	11	57,080,542 (GRCm39)	missense	probably damaging	1.00
R0549:Gria1	UTSW	11	57,119,799 (GRCm39)	missense	probably damaging	1.00
R0590:Gria1	UTSW	11	57,180,235 (GRCm39)	missense	probably damaging	1.00
R1377:Gria1	UTSW	11	57,092,002 (GRCm39)	missense	probably damaging	1.00
R1395:Gria1	UTSW	11	57,174,392 (GRCm39)	missense	probably damaging	1.00
R1422:Gria1	UTSW	11	57,080,614 (GRCm39)	missense	probably benign	0.00
R1581:Gria1	UTSW	11	57,127,836 (GRCm39)	splice site	probably null
R2002:Gria1	UTSW	11	56,902,930 (GRCm39)	missense	possibly damaging	0.93
R2064:Gria1	UTSW	11	57,208,534 (GRCm39)	missense	probably damaging	0.98
R2255:Gria1	UTSW	11	57,076,775 (GRCm39)	missense	probably damaging	1.00
R2507:Gria1	UTSW	11	57,180,146 (GRCm39)	missense	probably null	0.30
R2965:Gria1	UTSW	11	57,076,627 (GRCm39)	nonsense	probably null
R3012:Gria1	UTSW	11	57,180,260 (GRCm39)	missense	probably damaging	1.00
R3151:Gria1	UTSW	11	57,174,388 (GRCm39)	missense	probably damaging	1.00
R3807:Gria1	UTSW	11	57,201,504 (GRCm39)	missense	probably damaging	1.00
R5026:Gria1	UTSW	11	57,201,522 (GRCm39)	missense	probably damaging	1.00
R5132:Gria1	UTSW	11	57,180,225 (GRCm39)	missense	probably damaging	1.00
R5222:Gria1	UTSW	11	57,080,623 (GRCm39)	missense	probably benign	0.22
R5303:Gria1	UTSW	11	57,133,851 (GRCm39)	missense	probably benign	0.01
R5332:Gria1	UTSW	11	57,218,447 (GRCm39)	missense	possibly damaging	0.93
R5413:Gria1	UTSW	11	57,108,620 (GRCm39)	missense	probably benign	0.00
R5748:Gria1	UTSW	11	57,200,702 (GRCm39)	missense	probably benign	0.00
R5878:Gria1	UTSW	11	57,208,628 (GRCm39)	critical splice donor site	probably null
R5937:Gria1	UTSW	11	57,080,559 (GRCm39)	missense	probably benign	0.00
R5995:Gria1	UTSW	11	57,180,111 (GRCm39)	missense	probably damaging	1.00
R6031:Gria1	UTSW	11	57,108,608 (GRCm39)	missense	probably damaging	1.00
R6031:Gria1	UTSW	11	57,108,608 (GRCm39)	missense	probably damaging	1.00
R6180:Gria1	UTSW	11	57,133,618 (GRCm39)	missense	probably damaging	1.00
R6187:Gria1	UTSW	11	57,128,936 (GRCm39)	missense	possibly damaging	0.84
R6262:Gria1	UTSW	11	57,133,680 (GRCm39)	missense	probably damaging	1.00
R6828:Gria1	UTSW	11	57,180,288 (GRCm39)	missense	probably damaging	1.00
R7374:Gria1	UTSW	11	57,080,634 (GRCm39)	missense	probably benign
R7507:Gria1	UTSW	11	57,119,765 (GRCm39)	missense	probably benign	0.14
R7511:Gria1	UTSW	11	57,174,451 (GRCm39)	missense	probably damaging	1.00
R7691:Gria1	UTSW	11	57,127,813 (GRCm39)	missense	possibly damaging	0.94
R7898:Gria1	UTSW	11	57,133,591 (GRCm39)	missense	probably damaging	1.00
R7931:Gria1	UTSW	11	57,201,351 (GRCm39)	intron	probably benign
R7956:Gria1	UTSW	11	57,080,626 (GRCm39)	missense	possibly damaging	0.93
R8189:Gria1	UTSW	11	57,108,625 (GRCm39)	missense	probably benign	0.00
R8353:Gria1	UTSW	11	57,133,877 (GRCm39)	missense	probably damaging	1.00
R8453:Gria1	UTSW	11	57,133,877 (GRCm39)	missense	probably damaging	1.00
R8472:Gria1	UTSW	11	57,218,410 (GRCm39)	missense	probably benign	0.11
R8478:Gria1	UTSW	11	57,200,668 (GRCm39)	missense	probably damaging	1.00
R9165:Gria1	UTSW	11	57,076,759 (GRCm39)	missense	possibly damaging	0.96
R9243:Gria1	UTSW	11	57,128,888 (GRCm39)	missense	probably benign	0.06
R9450:Gria1	UTSW	11	57,200,615 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21