Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02685:Grid2'

303510

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grid2

Ensembl Gene

ENSMUSG00000071424

Gene Name

glutamate receptor, ionotropic, delta 2

Synonyms

tpr, B230104L07Rik, GluRdelta2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02685

Quality Score

Status

Chromosome

Chromosomal Location

63232860-64681307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 64322800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 600 (M600R)

Ref Sequence

ENSEMBL: ENSMUSP00000093536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095852]

AlphaFold

Q61625

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095852
AA Change: M600R

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000093536
Gene: ENSMUSG00000071424
AA Change: M600R

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	39	404	4.1e-41	PFAM
PBPe	442	807	5.98e-108	SMART
Lig_chan-Glu_bd	452	514	3.76e-24	SMART
transmembrane domain	830	852	N/A	INTRINSIC
low complexity region	945	956	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.] The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygotes for multiple spontaneous and targeted null mutations exhibit ataxia and impaired locomotion associated with cerebellar Purkinje cell abnormalities and loss, and on some backgrounds, male infertility due to lack of zona penetration by sperm. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,869,682 (GRCm39)	Y779C	probably damaging	Het
Acad10	A	G	5: 121,770,672 (GRCm39)	F532L	probably benign	Het
Adgrb3	A	T	1: 25,123,323 (GRCm39)		probably null	Het
Akr1d1	T	C	6: 37,507,278 (GRCm39)		probably benign	Het
Aqp11	A	G	7: 97,386,759 (GRCm39)	Y146H	probably damaging	Het
Cdh2	A	T	18: 16,779,557 (GRCm39)	L168Q	probably damaging	Het
Ces2f	C	T	8: 105,679,730 (GRCm39)	Q277*	probably null	Het
Cmya5	G	A	13: 93,227,505 (GRCm39)	Q2528*	probably null	Het
Col22a1	A	G	15: 71,673,764 (GRCm39)	V984A	unknown	Het
Col5a3	T	C	9: 20,683,501 (GRCm39)	D1557G	unknown	Het
Cpb1	A	T	3: 20,319,520 (GRCm39)	V188E	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Ephb1	G	T	9: 101,918,302 (GRCm39)	Y402*	probably null	Het
Foxm1	T	C	6: 128,350,070 (GRCm39)	L319S	possibly damaging	Het
Gmppb	T	C	9: 107,927,118 (GRCm39)		probably benign	Het
Gstm6	T	C	3: 107,848,507 (GRCm39)	K57E	probably benign	Het
Hars2	T	G	18: 36,924,171 (GRCm39)	S422A	probably benign	Het
Igdcc4	T	C	9: 65,041,107 (GRCm39)	M1092T	possibly damaging	Het
Ighv13-1	C	A	12: 114,231,403 (GRCm39)		probably benign	Het
Iqgap2	C	A	13: 95,807,912 (GRCm39)	R785L	probably damaging	Het
Kalrn	G	A	16: 34,334,329 (GRCm39)	Q8*	probably null	Het
Mms22l	A	G	4: 24,591,133 (GRCm39)	T1035A	probably benign	Het
Myo1b	A	G	1: 51,817,658 (GRCm39)	Y535H	probably damaging	Het
Neb	T	A	2: 52,065,313 (GRCm39)	K6234N	possibly damaging	Het
Nlrp9c	A	G	7: 26,084,982 (GRCm39)	I199T	probably damaging	Het
Or10ak7	A	T	4: 118,791,134 (GRCm39)	F304I	possibly damaging	Het
Or4c108	T	A	2: 88,803,365 (GRCm39)	N290I	possibly damaging	Het
Or52h9	C	A	7: 104,202,357 (GRCm39)	T77K	probably benign	Het
Or7g32	T	C	9: 19,408,098 (GRCm39)	I18T	probably benign	Het
Osmr	T	C	15: 6,845,054 (GRCm39)	E904G	probably benign	Het
Pde8b	T	C	13: 95,162,628 (GRCm39)	*831W	probably null	Het
Prkdc	T	C	16: 15,653,907 (GRCm39)	V3888A	possibly damaging	Het
Scn9a	C	A	2: 66,367,637 (GRCm39)	S693I	probably damaging	Het
Sepsecs	T	C	5: 52,804,534 (GRCm39)	T379A	probably benign	Het
Ska1	T	A	18: 74,330,119 (GRCm39)	H207L	probably benign	Het
Slc17a9	C	A	2: 180,375,602 (GRCm39)	Q175K	probably damaging	Het
Slc38a2	G	A	15: 96,589,306 (GRCm39)	T396I	probably benign	Het
Slc9a4	A	C	1: 40,668,742 (GRCm39)	H795P	probably benign	Het
Sorbs2	C	T	8: 46,256,877 (GRCm39)	T955I	probably benign	Het
Spata4	A	T	8: 55,053,963 (GRCm39)	H43L	probably benign	Het
Ss18l2	G	A	9: 121,539,484 (GRCm39)	A6T	possibly damaging	Het
Sult1e1	C	T	5: 87,727,765 (GRCm39)	W172*	probably null	Het
Tlcd1	T	C	11: 78,070,363 (GRCm39)		probably benign	Het
Tmc8	T	C	11: 117,683,400 (GRCm39)	S652P	probably damaging	Het
Vps37b	T	C	5: 124,148,874 (GRCm39)	S54G	probably damaging	Het
Wdr26	A	T	1: 181,011,345 (GRCm39)	S511T	possibly damaging	Het
Zfhx4	A	G	3: 5,477,213 (GRCm39)	Y3251C	probably damaging	Het

Other mutations in Grid2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Grid2	APN	6	64,322,573 (GRCm39)	missense	probably damaging	1.00
IGL00596:Grid2	APN	6	64,510,688 (GRCm39)	missense	possibly damaging	0.93
IGL01686:Grid2	APN	6	64,297,180 (GRCm39)	missense	probably benign	0.00
IGL01712:Grid2	APN	6	64,642,899 (GRCm39)	missense	possibly damaging	0.73
IGL02064:Grid2	APN	6	64,040,919 (GRCm39)	missense	probably benign	0.29
IGL02216:Grid2	APN	6	64,322,650 (GRCm39)	missense	probably damaging	0.96
IGL02563:Grid2	APN	6	64,322,857 (GRCm39)	missense	possibly damaging	0.94
IGL03129:Grid2	APN	6	64,040,888 (GRCm39)	missense	probably damaging	0.98
IGL03324:Grid2	APN	6	64,406,806 (GRCm39)	missense	possibly damaging	0.88
IGL03395:Grid2	APN	6	63,886,053 (GRCm39)	missense	possibly damaging	0.94
crawler	UTSW	6	64,406,678 (GRCm39)	nonsense	probably null
swagger	UTSW	6	64,372,263 (GRCm39)	synonymous	probably benign
R0133:Grid2	UTSW	6	64,297,116 (GRCm39)	missense	probably damaging	1.00
R0147:Grid2	UTSW	6	64,510,571 (GRCm39)	missense	probably benign
R0193:Grid2	UTSW	6	64,040,937 (GRCm39)	missense	possibly damaging	0.64
R0370:Grid2	UTSW	6	64,322,718 (GRCm39)	missense	possibly damaging	0.75
R0399:Grid2	UTSW	6	64,643,036 (GRCm39)	missense	probably benign	0.33
R0600:Grid2	UTSW	6	63,480,419 (GRCm39)	missense	probably benign	0.38
R0717:Grid2	UTSW	6	64,643,259 (GRCm39)	missense	possibly damaging	0.96
R1524:Grid2	UTSW	6	64,406,738 (GRCm39)	missense	possibly damaging	0.92
R1555:Grid2	UTSW	6	64,406,668 (GRCm39)	missense	possibly damaging	0.87
R1572:Grid2	UTSW	6	64,406,678 (GRCm39)	nonsense	probably null
R1762:Grid2	UTSW	6	64,510,638 (GRCm39)	missense	probably damaging	0.98
R1944:Grid2	UTSW	6	63,886,045 (GRCm39)	missense	probably damaging	1.00
R1961:Grid2	UTSW	6	63,885,877 (GRCm39)	missense	probably damaging	1.00
R1969:Grid2	UTSW	6	63,885,902 (GRCm39)	nonsense	probably null
R2138:Grid2	UTSW	6	64,322,782 (GRCm39)	missense	probably damaging	0.99
R3500:Grid2	UTSW	6	63,480,383 (GRCm39)	missense	probably damaging	0.97
R3547:Grid2	UTSW	6	64,297,005 (GRCm39)	missense	probably damaging	0.97
R3845:Grid2	UTSW	6	64,322,826 (GRCm39)	missense	possibly damaging	0.62
R4124:Grid2	UTSW	6	63,480,417 (GRCm39)	missense	probably benign	0.41
R4273:Grid2	UTSW	6	63,886,029 (GRCm39)	missense	probably damaging	1.00
R4591:Grid2	UTSW	6	64,297,086 (GRCm39)	missense	probably damaging	1.00
R4701:Grid2	UTSW	6	64,642,899 (GRCm39)	missense	probably benign	0.27
R4721:Grid2	UTSW	6	64,643,185 (GRCm39)	missense	probably benign	0.33
R4755:Grid2	UTSW	6	63,885,972 (GRCm39)	missense	probably benign	0.04
R4869:Grid2	UTSW	6	64,406,724 (GRCm39)	missense	probably damaging	1.00
R5083:Grid2	UTSW	6	64,297,136 (GRCm39)	nonsense	probably null
R5091:Grid2	UTSW	6	64,053,862 (GRCm39)	missense	probably benign	0.07
R5117:Grid2	UTSW	6	63,233,917 (GRCm39)	missense	probably benign	0.15
R5128:Grid2	UTSW	6	64,642,982 (GRCm39)	missense	probably benign	0.01
R5386:Grid2	UTSW	6	63,908,089 (GRCm39)	missense	probably damaging	0.99
R5404:Grid2	UTSW	6	63,907,894 (GRCm39)	missense	probably damaging	0.99
R5534:Grid2	UTSW	6	63,480,345 (GRCm39)	missense	probably benign
R5626:Grid2	UTSW	6	64,053,929 (GRCm39)	critical splice donor site	probably null
R5699:Grid2	UTSW	6	63,885,975 (GRCm39)	missense	probably damaging	0.99
R5700:Grid2	UTSW	6	64,071,416 (GRCm39)	missense	possibly damaging	0.95
R5876:Grid2	UTSW	6	64,640,146 (GRCm39)	missense	probably damaging	1.00
R6446:Grid2	UTSW	6	64,322,577 (GRCm39)	missense	probably damaging	1.00
R6694:Grid2	UTSW	6	63,908,031 (GRCm39)	missense	possibly damaging	0.92
R6697:Grid2	UTSW	6	63,908,031 (GRCm39)	missense	possibly damaging	0.92
R6699:Grid2	UTSW	6	63,908,031 (GRCm39)	missense	possibly damaging	0.92
R6767:Grid2	UTSW	6	63,907,999 (GRCm39)	missense	probably benign	0.01
R6895:Grid2	UTSW	6	64,372,283 (GRCm39)	missense	probably damaging	0.99
R6999:Grid2	UTSW	6	64,053,893 (GRCm39)	missense	possibly damaging	0.80
R7053:Grid2	UTSW	6	64,677,402 (GRCm39)	missense	unknown
R7126:Grid2	UTSW	6	64,053,794 (GRCm39)	missense	probably damaging	0.99
R7432:Grid2	UTSW	6	64,252,854 (GRCm39)	missense	possibly damaging	0.46
R7553:Grid2	UTSW	6	64,053,925 (GRCm39)	missense	possibly damaging	0.95
R7619:Grid2	UTSW	6	63,908,085 (GRCm39)	missense	possibly damaging	0.71
R7997:Grid2	UTSW	6	64,297,120 (GRCm39)	missense	possibly damaging	0.89
R8112:Grid2	UTSW	6	63,885,891 (GRCm39)	missense	probably damaging	0.99
R8296:Grid2	UTSW	6	63,233,929 (GRCm39)	critical splice donor site	probably null
R8320:Grid2	UTSW	6	63,233,917 (GRCm39)	missense	probably benign	0.15
R8467:Grid2	UTSW	6	64,510,635 (GRCm39)	missense	probably benign	0.01
R8691:Grid2	UTSW	6	63,480,321 (GRCm39)	missense	probably damaging	0.97
R8890:Grid2	UTSW	6	63,233,923 (GRCm39)	missense	probably benign
R8965:Grid2	UTSW	6	64,296,990 (GRCm39)	missense	probably damaging	1.00
R8968:Grid2	UTSW	6	64,643,139 (GRCm39)	missense	probably benign	0.14
R9220:Grid2	UTSW	6	63,885,888 (GRCm39)	missense	probably damaging	1.00
R9371:Grid2	UTSW	6	64,677,506 (GRCm39)	missense	unknown
R9653:Grid2	UTSW	6	63,907,968 (GRCm39)	missense	possibly damaging	0.75
Z1176:Grid2	UTSW	6	64,640,212 (GRCm39)	missense	probably benign	0.03
Z1176:Grid2	UTSW	6	63,885,863 (GRCm39)	missense	possibly damaging	0.76
Z1177:Grid2	UTSW	6	64,322,841 (GRCm39)	missense	probably damaging	1.00
Z1177:Grid2	UTSW	6	64,322,840 (GRCm39)	nonsense	probably null

Posted On

2015-04-16