Mutagenetix > Incidental Mutation

Incidental Mutation 'R4701:Grid2'

356018

Institutional Source

Beutler Lab

Gene Symbol

Grid2

Ensembl Gene

ENSMUSG00000071424

Gene Name

glutamate receptor, ionotropic, delta 2

Synonyms

tpr, B230104L07Rik, GluRdelta2

MMRRC Submission

041949-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4701 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63232860-64681307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64642899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 887 (D887G)

Ref Sequence

ENSEMBL: ENSMUSP00000093536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095852] [ENSMUST00000210324]

AlphaFold

Q61625

Predicted Effect

probably benign
Transcript: ENSMUST00000095852
AA Change: D887G

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000093536
Gene: ENSMUSG00000071424
AA Change: D887G

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

probably benign
Transcript: ENSMUST00000210324

Meta Mutation Damage Score

0.0625

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

96% (108/112)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	C	11: 101,301,986 (GRCm39)	I196V	probably benign	Het
Aass	T	A	6: 23,075,855 (GRCm39)	K761*	probably null	Het
Abca13	A	G	11: 9,242,306 (GRCm39)	T1390A	possibly damaging	Het
Abhd16a	T	C	17: 35,315,582 (GRCm39)		probably null	Het
Acad11	C	T	9: 103,972,764 (GRCm39)	Q486*	probably null	Het
Actl9	T	C	17: 33,652,909 (GRCm39)	L323P	probably benign	Het
Adam12	T	A	7: 133,518,191 (GRCm39)	I650F	possibly damaging	Het
Adgre4	A	T	17: 56,091,971 (GRCm39)	D77V	probably damaging	Het
Ankrd26	A	G	6: 118,483,446 (GRCm39)	F1586S	possibly damaging	Het
Anpep	T	C	7: 79,489,213 (GRCm39)	T320A	probably benign	Het
Arl15	T	A	13: 114,104,261 (GRCm39)	C133S	probably benign	Het
Ascc3	A	G	10: 50,596,760 (GRCm39)	N1230S	possibly damaging	Het
Atf4	T	A	15: 80,141,618 (GRCm39)	I336K	probably damaging	Het
Atp7b	A	T	8: 22,490,137 (GRCm39)	S1044T	probably benign	Het
Atp8b4	A	G	2: 126,256,213 (GRCm39)	F249L	probably damaging	Het
AU021092	G	T	16: 5,030,057 (GRCm39)	N319K	probably benign	Het
Bbs4	A	G	9: 59,230,802 (GRCm39)	V440A	probably benign	Het
Bpifb4	G	T	2: 153,792,305 (GRCm39)	G450C	probably damaging	Het
Cadm1	G	A	9: 47,730,120 (GRCm39)		probably benign	Het
Ccser2	G	A	14: 36,660,654 (GRCm39)	L500F	probably damaging	Het
Cd22	T	A	7: 30,575,578 (GRCm39)	I155F	probably damaging	Het
Cdkl4	A	T	17: 80,851,081 (GRCm39)	V207E	probably damaging	Het
Cfap251	A	G	5: 123,460,676 (GRCm39)	K1213E	probably benign	Het
Cfap65	T	C	1: 74,958,067 (GRCm39)	D947G	probably damaging	Het
Cntn6	T	C	6: 104,781,321 (GRCm39)	V397A	probably benign	Het
Cpox	T	A	16: 58,498,332 (GRCm39)	Y388*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dda1	T	A	8: 71,926,454 (GRCm39)	Y58N	probably damaging	Het
Dennd4a	C	T	9: 64,804,639 (GRCm39)	T1326I	possibly damaging	Het
Eps8l2	A	T	7: 140,937,173 (GRCm39)	I338F	probably damaging	Het
Fbxo42	A	G	4: 140,927,120 (GRCm39)	T467A	probably benign	Het
Flt4	T	C	11: 49,517,635 (GRCm39)	F319S	possibly damaging	Het
Fmn1	A	T	2: 113,414,416 (GRCm39)	Y895F	possibly damaging	Het
Gm6887	C	A	7: 42,114,517 (GRCm39)		noncoding transcript	Het
Grm6	C	T	11: 50,753,837 (GRCm39)	P714S	probably damaging	Het
Gsto2	A	G	19: 47,873,095 (GRCm39)	I157V	probably benign	Het
Il15ra	A	G	2: 11,723,156 (GRCm39)		probably null	Het
Impg1	A	G	9: 80,221,682 (GRCm39)	F713L	probably benign	Het
Jag1	T	A	2: 136,936,376 (GRCm39)	T373S	probably benign	Het
Kcnh3	T	A	15: 99,139,826 (GRCm39)	L904Q	probably benign	Het
Kctd19	C	A	8: 106,117,061 (GRCm39)	G356V	possibly damaging	Het
Kdm5b	T	A	1: 134,533,750 (GRCm39)		probably benign	Het
Kif1a	T	C	1: 93,006,557 (GRCm39)	I37V	probably damaging	Het
Lama5	G	A	2: 179,833,489 (GRCm39)	R1508C	probably damaging	Het
Lamb1	T	A	12: 31,316,847 (GRCm39)	C65*	probably null	Het
Lingo1	A	G	9: 56,527,542 (GRCm39)	F349S	probably damaging	Het
Loxl4	G	A	19: 42,596,052 (GRCm39)	H147Y	probably benign	Het
Lrrn4cl	T	A	19: 8,829,419 (GRCm39)	N132K	probably damaging	Het
Med17	A	T	9: 15,181,656 (GRCm39)	H31Q	probably damaging	Het
Med23	A	T	10: 24,769,546 (GRCm39)	L476F	probably damaging	Het
Mgst1	A	T	6: 138,127,836 (GRCm39)	D66V	probably damaging	Het
Mroh2a	T	C	1: 88,162,334 (GRCm39)		probably null	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Muc4	A	T	16: 32,576,220 (GRCm39)		probably benign	Het
Myo18a	C	T	11: 77,708,491 (GRCm39)	T30M	probably damaging	Het
Ncapg2	G	T	12: 116,404,238 (GRCm39)	R903L	probably benign	Het
Nme1	A	G	11: 93,856,734 (GRCm39)	I9T	probably damaging	Het
Nmt2	T	A	2: 3,323,678 (GRCm39)	I357N	probably benign	Het
Nphp4	T	C	4: 152,581,116 (GRCm39)	F100S	probably damaging	Het
Oca2	C	A	7: 55,904,750 (GRCm39)	T72K	probably benign	Het
Or52e4	A	T	7: 104,706,086 (GRCm39)	D211V	probably damaging	Het
Or52e7	A	T	7: 104,684,798 (GRCm39)	D131V	probably damaging	Het
Or52z15	G	A	7: 103,332,269 (GRCm39)	V105M	probably damaging	Het
Or7h8	T	C	9: 20,123,921 (GRCm39)	I92T	probably damaging	Het
Or9s15	C	A	1: 92,525,160 (GRCm39)	D306E	probably benign	Het
Plce1	A	T	19: 38,713,451 (GRCm39)	T1240S	probably benign	Het
Plch1	A	T	3: 63,606,917 (GRCm39)		probably null	Het
Plxna4	T	C	6: 32,493,623 (GRCm39)	D331G	probably damaging	Het
Ppp1r3a	T	C	6: 14,718,992 (GRCm39)	T641A	probably benign	Het
Rab32	A	G	10: 10,426,598 (GRCm39)	L116P	probably benign	Het
Recql4	C	T	15: 76,592,785 (GRCm39)	C302Y	probably damaging	Het
Rorc	G	C	3: 94,299,017 (GRCm39)	E391Q	probably null	Het
Saa4	A	T	7: 46,381,051 (GRCm39)	F24I	possibly damaging	Het
Sall1	T	A	8: 89,757,788 (GRCm39)	K772M	probably damaging	Het
Sdk1	T	G	5: 142,170,986 (GRCm39)	L1950V	probably damaging	Het
Sil1	T	C	18: 35,399,949 (GRCm39)	E352G	probably benign	Het
Slc26a3	C	T	12: 31,497,773 (GRCm39)	P59L	probably damaging	Het
Smco2	T	C	6: 146,763,440 (GRCm39)		probably benign	Het
Sppl3	A	G	5: 115,241,372 (GRCm39)		probably null	Het
St6gal2	T	A	17: 55,803,345 (GRCm39)	V360D	probably damaging	Het
Stard9	G	A	2: 120,536,194 (GRCm39)	R345Q	possibly damaging	Het
Susd4	T	A	1: 182,719,626 (GRCm39)	Y414N	probably damaging	Het
Tenm4	T	C	7: 96,544,556 (GRCm39)	Y2191H	probably damaging	Het
Tln2	A	G	9: 67,253,809 (GRCm39)	V754A	probably benign	Het
Tmem132c	T	A	5: 127,641,560 (GRCm39)		probably benign	Het
Tnn	A	T	1: 159,975,338 (GRCm39)	S30T	possibly damaging	Het
Trpd52l3	G	T	19: 29,981,895 (GRCm39)	V217F	probably damaging	Het
Trpm1	G	T	7: 63,893,248 (GRCm39)	L1033F	probably damaging	Het
Tulp2	A	G	7: 45,167,348 (GRCm39)	E182G	probably damaging	Het
Ubr4	A	G	4: 139,198,647 (GRCm39)	K4490R	possibly damaging	Het
Usp17la	A	T	7: 104,509,856 (GRCm39)	R154*	probably null	Het
Vmn2r17	T	G	5: 109,575,849 (GRCm39)	M240R	probably damaging	Het
Vmn2r22	T	A	6: 123,627,428 (GRCm39)	N56I	probably benign	Het
Zdhhc21	A	T	4: 82,738,571 (GRCm39)	I206N	possibly damaging	Het
Zfp148	T	A	16: 33,277,278 (GRCm39)	D122E	probably benign	Het
Zfp804a	A	T	2: 82,086,926 (GRCm39)	S252C	probably damaging	Het
Zgrf1	C	T	3: 127,392,353 (GRCm39)	T1291I	probably benign	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
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'- TCTGCTAAGCCAATATGCCCC -3'
(R):5'- TAAAAGGGCCAGTTCGGTG -3'

Sequencing Primer
(F):5'- GCCCCAAAGTTCAGTTAATTACATG -3'
(R):5'- GCCAGTTCGGTGCTCAG -3'

Posted On

2015-10-21