Mutagenetix > Incidental Mutation

Incidental Mutation 'R7432:Grid2'

576547

Institutional Source

Beutler Lab

Gene Symbol

Grid2

Ensembl Gene

ENSMUSG00000071424

Gene Name

glutamate receptor, ionotropic, delta 2

Synonyms

tpr, B230104L07Rik, GluRdelta2

MMRRC Submission

045510-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7432 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63232860-64681307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 64252854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 441 (V441L)

Ref Sequence

ENSEMBL: ENSMUSP00000093536 (fasta)

Gene Model

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

AlphaFold

Q61625

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095852
AA Change: V441L

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000093536
Gene: ENSMUSG00000071424
AA Change: V441L

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,468,839 (GRCm39)	I31V	probably benign	Het
Adamts17	A	G	7: 66,701,665 (GRCm39)	K40E		Het
Akr1c14	G	A	13: 4,138,952 (GRCm39)	D312N	probably benign	Het
Alg6	T	C	4: 99,641,295 (GRCm39)	V398A	probably benign	Het
Ankmy1	A	T	1: 92,823,801 (GRCm39)	M155K	probably benign	Het
Arid5b	C	A	10: 67,954,096 (GRCm39)	R396L	probably damaging	Het
Armt1	C	A	10: 4,382,706 (GRCm39)	D12E	probably benign	Het
Arrb2	T	A	11: 70,328,796 (GRCm39)	N217K	probably benign	Het
Atg2b	A	T	12: 105,627,463 (GRCm39)	L508Q	probably damaging	Het
Atg2b	A	T	12: 105,630,957 (GRCm39)	S323T	probably benign	Het
Atp1a3	G	A	7: 24,705,300 (GRCm39)		probably benign	Het
Atp6v0e	T	C	17: 26,901,672 (GRCm39)	V42A	probably benign	Het
Atp9b	A	G	18: 80,809,056 (GRCm39)	V621A		Het
Atrnl1	A	C	19: 57,743,956 (GRCm39)	D1186A	probably damaging	Het
Atxn2l	A	T	7: 126,093,046 (GRCm39)	M821K	possibly damaging	Het
Blnk	G	A	19: 40,948,301 (GRCm39)	R123*	probably null	Het
Bud13	T	A	9: 46,198,372 (GRCm39)	S98T	probably benign	Het
Ccdc183	T	C	2: 25,499,469 (GRCm39)	M455V	probably benign	Het
Cd109	A	G	9: 78,622,225 (GRCm39)	Y1405C	possibly damaging	Het
Cdan1	A	T	2: 120,553,236 (GRCm39)	L989Q	probably damaging	Het
Clec16a	T	C	16: 10,506,419 (GRCm39)	I713T	possibly damaging	Het
Clta	T	A	4: 44,032,419 (GRCm39)	F168L	possibly damaging	Het
Cnnm1	A	T	19: 43,456,710 (GRCm39)	H583L	probably benign	Het
Cyp4f18	A	G	8: 72,749,906 (GRCm39)	Y248H	probably benign	Het
Dsg4	G	T	18: 20,579,323 (GRCm39)	G20*	probably null	Het
Dusp12	T	A	1: 170,707,345 (GRCm39)	K248*	probably null	Het
Eeig2	C	T	3: 108,910,723 (GRCm39)	A51T	probably damaging	Het
Elp1	C	T	4: 56,776,925 (GRCm39)	G624D	probably damaging	Het
Fhod3	A	G	18: 25,134,966 (GRCm39)	D359G	possibly damaging	Het
Frmpd2	C	A	14: 33,229,510 (GRCm39)	F365L	probably damaging	Het
Gab1	A	G	8: 81,515,298 (GRCm39)	I340T	probably benign	Het
Gabpa	C	T	16: 84,654,408 (GRCm39)	Q362*	probably null	Het
Gcnt2	A	T	13: 41,040,688 (GRCm39)		probably benign	Het
Gm12728	T	A	4: 105,651,486 (GRCm39)	L32Q	probably damaging	Het
Gpatch4	A	G	3: 87,959,003 (GRCm39)	N35D	probably damaging	Het
H2-M2	A	G	17: 37,792,361 (GRCm39)		probably null	Het
Hip1r	T	C	5: 124,129,829 (GRCm39)	F180L	probably benign	Het
Il17re	T	C	6: 113,439,332 (GRCm39)	F81L	probably benign	Het
Il3ra	T	C	14: 14,350,691 (GRCm38)	V235A	possibly damaging	Het
Krtap6-2	C	T	16: 89,216,761 (GRCm39)	G69S	unknown	Het
Lmln	T	C	16: 32,909,738 (GRCm39)	L373P	probably damaging	Het
Lmo7	C	A	14: 102,139,551 (GRCm39)	Q945K	probably benign	Het
Loxhd1	G	T	18: 77,383,547 (GRCm39)	V149L	possibly damaging	Het
Lrrc73	T	C	17: 46,566,709 (GRCm39)		probably null	Het
Mapkapk5	G	A	5: 121,675,234 (GRCm39)	H112Y	possibly damaging	Het
Maz	A	G	7: 126,622,220 (GRCm39)	V467A	probably benign	Het
Med13l	T	G	5: 118,890,003 (GRCm39)	V1884G	probably damaging	Het
Nlrp12	A	C	7: 3,271,213 (GRCm39)	N1033K	probably benign	Het
Nos3	T	A	5: 24,572,613 (GRCm39)	V184E	probably damaging	Het
Npr2	T	C	4: 43,647,155 (GRCm39)	V737A	probably damaging	Het
Nsd1	A	G	13: 55,361,187 (GRCm39)	T52A	probably benign	Het
Obscn	C	T	11: 58,919,733 (GRCm39)	R108Q		Het
Or4k50-ps1	A	G	2: 111,522,401 (GRCm39)	*179W	probably null	Het
Or4x11	A	T	2: 89,867,528 (GRCm39)	K88N	probably damaging	Het
Or5t5	G	T	2: 86,616,565 (GRCm39)	G164*	probably null	Het
Or5w22	T	C	2: 87,362,784 (GRCm39)	S136P	probably damaging	Het
Or6c70	T	C	10: 129,709,719 (GRCm39)	I302M	probably benign	Het
Or9a4	C	A	6: 40,549,240 (GRCm39)	R307S	probably benign	Het
Ovol2	A	G	2: 144,159,792 (GRCm39)	V116A	probably benign	Het
Pcdha5	C	A	18: 37,095,379 (GRCm39)	S629R	probably benign	Het
Pde4dip	T	A	3: 97,602,408 (GRCm39)	M2274L	probably benign	Het
Pdpk1	T	C	17: 24,320,643 (GRCm39)	T185A	probably benign	Het
Pip5k1a	T	G	3: 94,981,431 (GRCm39)	T67P	probably benign	Het
Plat	G	T	8: 23,263,667 (GRCm39)	V189F	probably damaging	Het
Ppm1a	C	T	12: 72,830,916 (GRCm39)	S147L	probably damaging	Het
Prim1	T	A	10: 127,851,885 (GRCm39)	D52E	probably damaging	Het
Prkab1	C	G	5: 116,162,221 (GRCm39)	D30H	possibly damaging	Het
Psma6	A	T	12: 55,445,613 (GRCm39)		probably benign	Het
Psmd2	T	A	16: 20,473,675 (GRCm39)	M196K	probably damaging	Het
Ralgapa2	G	T	2: 146,276,776 (GRCm39)	T488K	probably benign	Het
Rapgefl1	A	G	11: 98,741,940 (GRCm39)	K635E	probably damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rgs11	G	A	17: 26,426,734 (GRCm39)	V289M	probably damaging	Het
Ro60	T	C	1: 143,641,548 (GRCm39)	I304M	probably benign	Het
Scmh1	T	C	4: 120,386,353 (GRCm39)	L631P	probably damaging	Het
Sema3e	T	G	5: 14,274,404 (GRCm39)	D218E	probably damaging	Het
Sh3rf2	T	C	18: 42,187,091 (GRCm39)	V70A	probably damaging	Het
Slc12a1	G	T	2: 125,047,960 (GRCm39)	V801L	probably benign	Het
Slc25a51	C	G	4: 45,399,765 (GRCm39)	A142P	possibly damaging	Het
Slc41a1	C	T	1: 131,758,694 (GRCm39)	T112I	probably damaging	Het
Slc44a2	T	C	9: 21,254,511 (GRCm39)	M264T	probably benign	Het
Snapc1	T	A	12: 74,015,068 (GRCm39)	M134K	probably benign	Het
Snrk	T	C	9: 121,986,276 (GRCm39)	F215S	probably damaging	Het
Stab2	T	C	10: 86,721,547 (GRCm39)	E1526G	probably damaging	Het
Tbc1d10a	C	A	11: 4,163,016 (GRCm39)	Y260*	probably null	Het
Tdrd5	A	T	1: 156,130,002 (GRCm39)	L56Q	probably damaging	Het
Tenm2	T	C	11: 36,755,768 (GRCm39)	T77A	probably benign	Het
Tmprss11g	T	G	5: 86,644,366 (GRCm39)	R159S	possibly damaging	Het
Traj38	T	A	14: 54,418,034 (GRCm39)	N1K		Het
Ttn	A	G	2: 76,596,631 (GRCm39)	I20094T	possibly damaging	Het
Ubr4	T	C	4: 139,115,693 (GRCm39)	L64P	probably damaging	Het
Utp20	C	T	10: 88,634,260 (GRCm39)	R812Q	probably benign	Het
Vmn2r57	C	A	7: 41,076,148 (GRCm39)	V455L	probably benign	Het
Wdcp	T	C	12: 4,900,246 (GRCm39)	V34A	probably damaging	Het
Zfp27	C	T	7: 29,594,784 (GRCm39)	V394I	probably benign	Het
Zfp512b	T	C	2: 181,231,649 (GRCm39)	H177R	probably benign	Het
Zfp648	T	A	1: 154,080,783 (GRCm39)	M314K	possibly damaging	Het
Zfp811	T	C	17: 33,017,733 (GRCm39)	I102M	possibly damaging	Het
Zkscan6	A	G	11: 65,705,189 (GRCm39)		probably null	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
IGL02685:Grid2	APN	6	64,322,800 (GRCm39)	missense	possibly damaging	0.50
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
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

Predicted Primers

PCR Primer
(F):5'- CATGAGATGGCATTTCTGATTGC -3'
(R):5'- GCAACATGACTACTGAAGCTG -3'

Sequencing Primer
(F):5'- TACCAGCTATTACAAGAGGTATCAC -3'
(R):5'- CAACATGACTACTGAAGCTGTTTTAG -3'

Posted On

2019-10-07