Mutagenetix > Incidental Mutation

Incidental Mutation 'R1944:Grid2'

216448

Institutional Source

Beutler Lab

Gene Symbol

Grid2

Ensembl Gene

ENSMUSG00000071424

Gene Name

glutamate receptor, ionotropic, delta 2

Synonyms

tpr, B230104L07Rik, GluRdelta2

MMRRC Submission

039962-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1944 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63232860-64681307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 63886045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 147 (R147P)

Ref Sequence

ENSEMBL: ENSMUSP00000093536 (fasta)

Gene Model

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

AlphaFold

Q61625

Predicted Effect

probably damaging
Transcript: ENSMUST00000095852
AA Change: R147P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000093536
Gene: ENSMUSG00000071424
AA Change: R147P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159561

SMART Domains

Protein: ENSMUSP00000125402
Gene: ENSMUSG00000071424

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	39	404	2.7e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161105

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,980,796 (GRCm39)	N593Y	probably damaging	Het
Adamts16	C	T	13: 70,940,005 (GRCm39)	S406N	possibly damaging	Het
Adgrg1	G	A	8: 95,733,928 (GRCm39)	V350I	probably damaging	Het
Adgrv1	A	T	13: 81,659,030 (GRCm39)	D2051E	probably damaging	Het
Adrb2	C	A	18: 62,312,484 (GRCm39)	V114L	probably damaging	Het
Ago3	A	G	4: 126,247,520 (GRCm39)	V599A	probably damaging	Het
AI837181	T	C	19: 5,476,257 (GRCm39)	V140A	probably damaging	Het
Ankrd16	T	A	2: 11,788,443 (GRCm39)		probably null	Het
Arnt2	A	G	7: 83,992,959 (GRCm39)	S194P	probably benign	Het
Art2b	T	C	7: 101,229,153 (GRCm39)	N249D	probably benign	Het
Atat1	A	G	17: 36,220,232 (GRCm39)	L60P	probably damaging	Het
Atp2b1	A	T	10: 98,858,793 (GRCm39)	I1159F	probably damaging	Het
Atrip	T	A	9: 108,900,935 (GRCm39)	I135F	probably damaging	Het
Bbs4	T	G	9: 59,237,698 (GRCm39)		probably null	Het
Bdp1	A	T	13: 100,210,889 (GRCm39)		probably null	Het
Best2	A	G	8: 85,737,390 (GRCm39)		probably null	Het
Cacna1c	A	G	6: 118,583,227 (GRCm39)	I1516T	probably damaging	Het
Cadps2	T	C	6: 23,599,479 (GRCm39)	I276V	probably damaging	Het
Carmil3	T	C	14: 55,736,087 (GRCm39)	S610P	probably damaging	Het
Caskin1	A	G	17: 24,719,745 (GRCm39)	I375V	probably damaging	Het
Ccdc168	G	A	1: 44,101,009 (GRCm39)	P30S	probably damaging	Het
Ccdc92b	A	G	11: 74,520,835 (GRCm39)	I46V	probably benign	Het
Clec11a	G	T	7: 43,954,098 (GRCm39)	T285K	probably benign	Het
Clk3	G	T	9: 57,672,469 (GRCm39)	T111K	probably benign	Het
Col6a6	G	A	9: 105,586,583 (GRCm39)	R1813C	probably damaging	Het
Col7a1	G	A	9: 108,789,078 (GRCm39)	V798I	unknown	Het
Ctrb1	C	A	8: 112,416,151 (GRCm39)	W45L	probably damaging	Het
Cubn	T	A	2: 13,283,349 (GRCm39)	S3530C	probably benign	Het
Dio1	A	G	4: 107,163,977 (GRCm39)		probably null	Het
Dock5	A	T	14: 67,994,584 (GRCm39)	Y1825*	probably null	Het
Duox1	A	T	2: 122,177,001 (GRCm39)	Q1476L	probably damaging	Het
Dync2h1	A	T	9: 7,001,377 (GRCm39)	H3877Q	probably damaging	Het
Enkd1	A	G	8: 106,434,208 (GRCm39)	S85P	probably damaging	Het
Erap1	A	G	13: 74,794,758 (GRCm39)	D139G	probably benign	Het
Ern1	A	G	11: 106,312,776 (GRCm39)	S202P	probably damaging	Het
F11r	T	C	1: 171,289,459 (GRCm39)	Y261H	probably damaging	Het
Glp2r	A	T	11: 67,637,618 (GRCm39)	S138T	probably benign	Het
Gpt2	A	G	8: 86,244,625 (GRCm39)	Y306C	probably damaging	Het
Gtdc1	A	G	2: 44,642,198 (GRCm39)	F128L	possibly damaging	Het
H2-T15	A	G	17: 36,368,897 (GRCm39)	F61S	probably damaging	Het
Hacd4	T	C	4: 88,341,303 (GRCm39)	T154A	possibly damaging	Het
Heatr6	G	T	11: 83,660,046 (GRCm39)	L530F	probably damaging	Het
Hoxd8	A	T	2: 74,537,056 (GRCm39)	D256V	probably damaging	Het
Ints6	T	C	14: 62,931,089 (GRCm39)	N865D	probably benign	Het
Itpkc	G	T	7: 26,927,084 (GRCm39)	P277T	possibly damaging	Het
Klc4	T	C	17: 46,947,553 (GRCm39)	N383S	probably damaging	Het
Klra6	T	C	6: 129,995,908 (GRCm39)	Y150C	possibly damaging	Het
Krt32	T	A	11: 99,975,670 (GRCm39)		probably null	Het
Krt33a	T	C	11: 99,903,535 (GRCm39)	N199S	probably benign	Het
Krt39	A	C	11: 99,410,649 (GRCm39)	D174E	probably damaging	Het
Krt82	G	A	15: 101,456,970 (GRCm39)	R137W	probably damaging	Het
Lgmn	A	T	12: 102,368,183 (GRCm39)	S193T	probably damaging	Het
Limch1	G	A	5: 67,156,442 (GRCm39)	R300H	probably damaging	Het
Lrpap1	T	A	5: 35,254,974 (GRCm39)	I221F	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,264,459 (GRCm39)	D4883G	probably damaging	Het
Man2b2	A	G	5: 36,973,524 (GRCm39)	V485A	probably benign	Het
Map3k19	T	C	1: 127,750,859 (GRCm39)	T831A	probably benign	Het
Mdfic2	A	G	6: 98,225,151 (GRCm39)	I44T	probably benign	Het
Megf6	C	G	4: 154,340,523 (GRCm39)	D471E	possibly damaging	Het
Mettl8	A	T	2: 70,803,623 (GRCm39)	F268L	probably damaging	Het
Miip	T	C	4: 147,950,422 (GRCm39)	E58G	probably benign	Het
Mycbp2	T	A	14: 103,466,840 (GRCm39)	S1308C	probably damaging	Het
Myo15a	T	C	11: 60,392,909 (GRCm39)	F2194L	probably damaging	Het
Nav3	T	C	10: 109,552,391 (GRCm39)	N1817S	probably damaging	Het
Ndel1	A	T	11: 68,720,746 (GRCm39)	H313Q	probably benign	Het
Neb	A	T	2: 52,118,862 (GRCm39)	H3931Q	probably benign	Het
Nfkb2	T	A	19: 46,296,491 (GRCm39)	V253E	probably damaging	Het
Niban1	T	C	1: 151,571,979 (GRCm39)	I308T	probably damaging	Het
Nono	T	C	X: 100,485,429 (GRCm39)		probably null	Het
Npc1l1	T	A	11: 6,164,588 (GRCm39)	I1154F	possibly damaging	Het
Nr2e1	T	C	10: 42,448,774 (GRCm39)	T155A	probably benign	Het
Oosp2	C	T	19: 11,626,959 (GRCm39)		probably null	Het
Or2b2	A	T	13: 21,887,287 (GRCm39)	I39F	possibly damaging	Het
Pdap1	G	A	5: 145,069,726 (GRCm39)	T93I	probably benign	Het
Pde6c	T	A	19: 38,145,967 (GRCm39)	D418E	probably damaging	Het
Pdha1	T	A	X: 158,910,354 (GRCm39)	D255V	probably damaging	Het
Polr2h	T	A	16: 20,537,796 (GRCm39)	D64E	probably benign	Het
Psmb3	T	C	11: 97,601,981 (GRCm39)	F117S	probably benign	Het
Ptprq	A	T	10: 107,418,249 (GRCm39)	M1709K	probably benign	Het
Rbm15	C	T	3: 107,238,868 (GRCm39)	R510H	probably damaging	Het
Rgs7	A	T	1: 174,980,769 (GRCm39)	M85K	possibly damaging	Het
Rpl27-ps3	T	A	18: 6,332,669 (GRCm39)	V13D	probably damaging	Het
Rtp2	T	A	16: 23,746,316 (GRCm39)	D105V	possibly damaging	Het
Scd3	T	C	19: 44,224,219 (GRCm39)	Y151H	probably benign	Het
Slc30a6	T	G	17: 74,715,858 (GRCm39)	V106G	probably damaging	Het
Slco1a4	T	C	6: 141,785,276 (GRCm39)	I105V	probably benign	Het
Sun3	T	C	11: 8,988,296 (GRCm39)	I9V	probably benign	Het
Syne2	T	C	12: 76,121,318 (GRCm39)	V5928A	probably damaging	Het
Tbr1	T	A	2: 61,642,600 (GRCm39)	S622T	probably damaging	Het
Tgm3	A	G	2: 129,871,889 (GRCm39)	N306D	probably damaging	Het
Tmem132d	A	G	5: 127,860,828 (GRCm39)	*1098Q	probably null	Het
Tmem140	T	C	6: 34,849,747 (GRCm39)	Y88H	probably damaging	Het
Trim60	A	T	8: 65,453,964 (GRCm39)	V95E	possibly damaging	Het
Vamp3	A	G	4: 151,140,617 (GRCm39)		probably null	Het
Vmn1r235	A	C	17: 21,481,785 (GRCm39)	T37P	probably damaging	Het
Vmn2r81	T	G	10: 79,129,571 (GRCm39)	L821V	probably damaging	Het
Vmn2r97	A	G	17: 19,160,500 (GRCm39)	D545G	probably benign	Het
Vps13c	A	T	9: 67,793,558 (GRCm39)	D437V	probably damaging	Het
Wtip	A	T	7: 33,818,363 (GRCm39)	M268K	probably benign	Het
Zfhx2	G	T	14: 55,312,189 (GRCm39)	F168L	probably benign	Het
Zscan22	G	A	7: 12,637,767 (GRCm39)	R53K	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCTTGGCCTTGGTCAGCTC -3'
(R):5'- TGTCTTACACACTCCAACAGG -3'

Sequencing Primer
(F):5'- AGCTCCATTGGTTGCACATCAG -3'
(R):5'- CACTCCAACAGGTATTTATGTTTACG -3'

Posted On

2014-08-01