Mutagenetix > Incidental Mutation

Incidental Mutation 'R1512:Grin2c'

168435

Institutional Source

Beutler Lab

Gene Symbol

Grin2c

Ensembl Gene

ENSMUSG00000020734

Gene Name

glutamate receptor, ionotropic, NMDA2C (epsilon 3)

Synonyms

NR2C, NMDAR2C, GluRepsilon3

MMRRC Submission

039559-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

R1512 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115139995-115158069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115144676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 617 (I617F)

Ref Sequence

ENSEMBL: ENSMUSP00000102164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003351] [ENSMUST00000106554]

AlphaFold

Q01098

Predicted Effect

probably damaging
Transcript: ENSMUST00000003351
AA Change: I617F

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

SMART Domains

Protein: ENSMUSP00000003351
Gene: ENSMUSG00000020734
AA Change: I617F

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:ANF_receptor	99	299	5.1e-12	PFAM
PBPe	440	796	1.11e-79	SMART
Lig_chan-Glu_bd	448	500	2.79e-18	SMART
transmembrane domain	816	835	N/A	INTRINSIC
Pfam:NMDAR2_C	837	924	6.8e-15	PFAM
low complexity region	941	975	N/A	INTRINSIC
low complexity region	1041	1058	N/A	INTRINSIC
low complexity region	1063	1076	N/A	INTRINSIC
low complexity region	1173	1182	N/A	INTRINSIC
low complexity region	1194	1203	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106554
AA Change: I617F

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

SMART Domains

Protein: ENSMUSP00000102164
Gene: ENSMUSG00000020734
AA Change: I617F

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:ANF_receptor	100	306	6.9e-10	PFAM
PBPe	440	796	1.11e-79	SMART
Lig_chan-Glu_bd	448	500	2.79e-18	SMART
transmembrane domain	816	835	N/A	INTRINSIC
Pfam:NMDAR2_C	837	926	1.1e-13	PFAM
low complexity region	941	975	N/A	INTRINSIC
low complexity region	1041	1058	N/A	INTRINSIC
low complexity region	1063	1076	N/A	INTRINSIC
low complexity region	1173	1182	N/A	INTRINSIC
low complexity region	1194	1203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158919

Meta Mutation Damage Score

0.3307

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

95% (79/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is a subtype of ionotropic glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to cations and have an important role in physiological processes such as learning, memory, and synaptic development. The receptor is a tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), forming a channel that is permeable to calcium, potassium, and sodium, and whose properties are determined by subunit composition. Alterations in the subunit composition of the receptor are associated with pathophysiological conditions such as Parkinson's disease, Alzheimer's disease, depression, and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit deficits in motor coordination and reduced granule cell responses to N-methy-D-aspartate in brain slices. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,086,295 (GRCm39)	D40E	probably benign	Het
Acsf2	C	T	11: 94,452,224 (GRCm39)		probably benign	Het
Adamts19	C	T	18: 59,181,917 (GRCm39)	H1119Y	possibly damaging	Het
Akap6	A	G	12: 52,983,937 (GRCm39)	D827G	probably damaging	Het
Ankrd33b	T	C	15: 31,367,375 (GRCm39)	D55G	probably damaging	Het
Ano5	T	A	7: 51,229,316 (GRCm39)	H569Q	probably benign	Het
Aox1	A	G	1: 58,346,510 (GRCm39)	D548G	probably benign	Het
Baz2a	A	G	10: 127,960,021 (GRCm39)	D1433G	possibly damaging	Het
BC031181	T	G	18: 75,141,767 (GRCm39)	V8G	probably damaging	Het
Bicdl2	A	T	17: 23,887,083 (GRCm39)	M457L	probably damaging	Het
C130074G19Rik	T	C	1: 184,615,103 (GRCm39)	D29G	probably damaging	Het
Cd200r1	A	T	16: 44,586,390 (GRCm39)	T7S	probably benign	Het
Cdc37	A	G	9: 21,053,712 (GRCm39)		probably benign	Het
Cmtr2	T	C	8: 110,949,267 (GRCm39)	S526P	probably damaging	Het
Cntn2	G	T	1: 132,451,430 (GRCm39)	A433D	probably damaging	Het
Cntnap5a	T	C	1: 115,828,680 (GRCm39)	S35P	probably benign	Het
Csf3r	A	G	4: 125,923,777 (GRCm39)	T96A	possibly damaging	Het
Ctbs	A	G	3: 146,160,720 (GRCm39)	N96D	probably benign	Het
Cyp26b1	C	A	6: 84,553,979 (GRCm39)	V213L	probably benign	Het
Dach1	A	G	14: 98,138,835 (GRCm39)	L536P	probably damaging	Het
Dcaf6	T	C	1: 165,179,589 (GRCm39)	Q517R	probably benign	Het
Dnah1	G	T	14: 31,014,994 (GRCm39)	Q1733K	probably damaging	Het
Dnah17	A	T	11: 117,985,841 (GRCm39)	I1416N	probably benign	Het
Dock11	G	A	X: 35,283,688 (GRCm39)	R1102H	probably damaging	Het
Dpp8	T	C	9: 64,971,096 (GRCm39)		probably benign	Het
Emc1	G	A	4: 139,087,495 (GRCm39)		probably null	Het
Emc8	A	G	8: 121,384,983 (GRCm39)	L76P	possibly damaging	Het
Emx2	T	C	19: 59,448,035 (GRCm39)	Y130H	possibly damaging	Het
Fbf1	C	T	11: 116,038,753 (GRCm39)	R815Q	probably damaging	Het
Foxb2	G	A	19: 16,849,878 (GRCm39)	P376L	probably damaging	Het
Gabrb1	C	A	5: 72,266,047 (GRCm39)	L202I	probably damaging	Het
Gabrb1	T	A	5: 72,266,048 (GRCm39)	L202Q	probably damaging	Het
Gtf2h3	T	A	5: 124,728,933 (GRCm39)	V164E	probably damaging	Het
Gusb	T	C	5: 130,029,731 (GRCm39)	Q88R	probably damaging	Het
Hormad2	T	A	11: 4,374,788 (GRCm39)	K75N	probably damaging	Het
Il33	A	G	19: 29,929,390 (GRCm39)	T38A	possibly damaging	Het
Ivns1abp	A	T	1: 151,236,687 (GRCm39)	Q416L	possibly damaging	Het
Ivns1abp	G	C	1: 151,236,688 (GRCm39)	Q416H	probably benign	Het
Kcnh5	T	A	12: 75,166,711 (GRCm39)	H178L	probably benign	Het
Kif21b	A	G	1: 136,080,543 (GRCm39)	N579S	probably benign	Het
Kif26a	G	C	12: 112,113,389 (GRCm39)	R95P	possibly damaging	Het
Kl	A	G	5: 150,912,062 (GRCm39)	I604V	probably benign	Het
Klhl24	A	G	16: 19,941,686 (GRCm39)	K545E	probably damaging	Het
Mcm3ap	A	G	10: 76,306,347 (GRCm39)	I153M	probably damaging	Het
Meis1	T	G	11: 18,831,682 (GRCm39)	D452A	probably damaging	Het
Msantd4	C	T	9: 4,384,138 (GRCm39)	P153L	probably benign	Het
Myot	A	G	18: 44,475,422 (GRCm39)	E181G	probably damaging	Het
Nf1	T	C	11: 79,281,195 (GRCm39)	F150S	probably damaging	Het
Nyap2	T	A	1: 81,219,566 (GRCm39)	S529R	probably damaging	Het
Or10d3	T	C	9: 39,461,390 (GRCm39)	Y259C	probably damaging	Het
Or12e10	A	T	2: 87,640,988 (GRCm39)	T275S	probably benign	Het
Or2y1c	A	G	11: 49,361,286 (GRCm39)	I103V	probably benign	Het
Or8b56	T	A	9: 38,739,660 (GRCm39)	Y224*	probably null	Het
Pcnt	C	T	10: 76,240,496 (GRCm39)		probably null	Het
Pik3c3	T	C	18: 30,455,289 (GRCm39)		probably null	Het
Pkdcc	A	T	17: 83,527,473 (GRCm39)	Y217F	possibly damaging	Het
Pnpla6	C	A	8: 3,585,459 (GRCm39)		probably benign	Het
Polr3gl	T	C	3: 96,488,190 (GRCm39)	M26V	probably benign	Het
Ppp1r13b	T	C	12: 111,838,842 (GRCm39)	N12S	possibly damaging	Het
Ppp1r26	G	A	2: 28,341,528 (GRCm39)	R386K	probably benign	Het
Prdm10	A	G	9: 31,248,697 (GRCm39)	E355G	probably damaging	Het
Prex2	T	C	1: 11,131,554 (GRCm39)	F41S	possibly damaging	Het
Prkar1b	G	T	5: 139,036,428 (GRCm39)	Y231*	probably null	Het
Prkdc	A	T	16: 15,505,268 (GRCm39)	I857L	probably benign	Het
Psg21	A	T	7: 18,390,425 (GRCm39)	N10K	probably benign	Het
Rapgef3	A	T	15: 97,655,382 (GRCm39)	V444E	probably benign	Het
Rnf17	A	T	14: 56,705,243 (GRCm39)	T716S	probably benign	Het
Rps6ka1	C	T	4: 133,578,315 (GRCm39)	R577H	probably damaging	Het
Scn1a	A	C	2: 66,161,629 (GRCm39)	N306K	possibly damaging	Het
Skint6	A	G	4: 113,095,329 (GRCm39)	I110T	probably damaging	Het
Ssu2	A	G	6: 112,364,959 (GRCm39)	M1T	probably null	Het
Stag3	A	T	5: 138,296,247 (GRCm39)	T437S	probably benign	Het
Tal2	A	G	4: 53,786,107 (GRCm39)	Y96C	probably benign	Het
Thoc3	A	T	13: 54,613,991 (GRCm39)		probably null	Het
Tle1	T	C	4: 72,059,495 (GRCm39)	D19G	probably damaging	Het
Trpm4	A	G	7: 44,964,468 (GRCm39)	I690T	probably benign	Het
Trpm6	A	T	19: 18,853,295 (GRCm39)	M1772L	probably benign	Het
Unc5b	G	A	10: 60,667,254 (GRCm39)		probably benign	Het
Usf3	G	T	16: 44,041,561 (GRCm39)	V2014F	probably damaging	Het
Utp18	C	T	11: 93,776,390 (GRCm39)	A32T	probably benign	Het
Wdfy4	A	G	14: 32,682,765 (GRCm39)	V2981A	probably damaging	Het
Zfp608	A	G	18: 55,079,738 (GRCm39)	V349A	probably damaging	Het
Znfx1	A	C	2: 166,898,237 (GRCm39)	I229S	probably benign	Het

Other mutations in Grin2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01019:Grin2c	APN	11	115,148,936 (GRCm39)	missense	possibly damaging	0.94
IGL01306:Grin2c	APN	11	115,147,020 (GRCm39)	missense	probably benign	0.01
IGL01408:Grin2c	APN	11	115,151,708 (GRCm39)	missense	probably damaging	1.00
IGL01539:Grin2c	APN	11	115,140,932 (GRCm39)	missense	probably benign	0.32
IGL01931:Grin2c	APN	11	115,144,736 (GRCm39)	missense	probably damaging	1.00
IGL01964:Grin2c	APN	11	115,144,673 (GRCm39)	missense	probably damaging	1.00
IGL02796:Grin2c	APN	11	115,141,543 (GRCm39)	splice site	probably benign
IGL02956:Grin2c	APN	11	115,148,785 (GRCm39)	missense	possibly damaging	0.86
IGL03221:Grin2c	APN	11	115,144,870 (GRCm39)	splice site	probably benign
ANU23:Grin2c	UTSW	11	115,147,020 (GRCm39)	missense	probably benign	0.01
BB007:Grin2c	UTSW	11	115,147,063 (GRCm39)	missense	probably benign	0.01
BB017:Grin2c	UTSW	11	115,147,063 (GRCm39)	missense	probably benign	0.01
PIT4362001:Grin2c	UTSW	11	115,140,459 (GRCm39)	missense	probably benign
R0011:Grin2c	UTSW	11	115,146,576 (GRCm39)	missense	probably damaging	1.00
R0011:Grin2c	UTSW	11	115,146,576 (GRCm39)	missense	probably damaging	1.00
R0112:Grin2c	UTSW	11	115,141,960 (GRCm39)	missense	probably damaging	1.00
R0355:Grin2c	UTSW	11	115,151,554 (GRCm39)	splice site	probably benign
R0681:Grin2c	UTSW	11	115,140,479 (GRCm39)	missense	probably benign
R0791:Grin2c	UTSW	11	115,141,472 (GRCm39)	missense	probably damaging	1.00
R0792:Grin2c	UTSW	11	115,141,472 (GRCm39)	missense	probably damaging	1.00
R1572:Grin2c	UTSW	11	115,146,900 (GRCm39)	missense	possibly damaging	0.92
R1654:Grin2c	UTSW	11	115,151,679 (GRCm39)	missense	probably benign	0.21
R1803:Grin2c	UTSW	11	115,151,558 (GRCm39)	critical splice donor site	probably null
R1982:Grin2c	UTSW	11	115,151,731 (GRCm39)	missense	possibly damaging	0.96
R2050:Grin2c	UTSW	11	115,148,245 (GRCm39)	missense	possibly damaging	0.89
R2196:Grin2c	UTSW	11	115,141,492 (GRCm39)	missense	probably benign	0.34
R2442:Grin2c	UTSW	11	115,141,960 (GRCm39)	missense	probably damaging	1.00
R2509:Grin2c	UTSW	11	115,141,894 (GRCm39)	nonsense	probably null
R3440:Grin2c	UTSW	11	115,141,469 (GRCm39)	missense	probably damaging	1.00
R3965:Grin2c	UTSW	11	115,151,820 (GRCm39)	missense	probably damaging	1.00
R4618:Grin2c	UTSW	11	115,143,573 (GRCm39)	missense	probably damaging	1.00
R4735:Grin2c	UTSW	11	115,140,422 (GRCm39)	missense	possibly damaging	0.63
R4856:Grin2c	UTSW	11	115,151,616 (GRCm39)	missense	probably damaging	1.00
R4886:Grin2c	UTSW	11	115,151,616 (GRCm39)	missense	probably damaging	1.00
R5277:Grin2c	UTSW	11	115,144,639 (GRCm39)	missense	probably damaging	1.00
R5334:Grin2c	UTSW	11	115,146,881 (GRCm39)	missense	possibly damaging	0.76
R5553:Grin2c	UTSW	11	115,143,551 (GRCm39)	missense	probably null	0.96
R5711:Grin2c	UTSW	11	115,141,115 (GRCm39)	missense	probably benign	0.32
R5784:Grin2c	UTSW	11	115,149,121 (GRCm39)	missense	possibly damaging	0.94
R5849:Grin2c	UTSW	11	115,151,817 (GRCm39)	missense	probably benign
R6421:Grin2c	UTSW	11	115,141,956 (GRCm39)	missense	probably damaging	1.00
R6461:Grin2c	UTSW	11	115,146,522 (GRCm39)	missense	possibly damaging	0.96
R6658:Grin2c	UTSW	11	115,149,108 (GRCm39)	missense	possibly damaging	0.64
R7205:Grin2c	UTSW	11	115,141,876 (GRCm39)	missense	probably damaging	0.99
R7611:Grin2c	UTSW	11	115,143,511 (GRCm39)	missense	probably damaging	1.00
R7637:Grin2c	UTSW	11	115,147,085 (GRCm39)	splice site	probably null
R7751:Grin2c	UTSW	11	115,144,696 (GRCm39)	missense	probably damaging	1.00
R7847:Grin2c	UTSW	11	115,151,804 (GRCm39)	missense	possibly damaging	0.68
R7920:Grin2c	UTSW	11	115,144,970 (GRCm39)	missense	probably benign	0.33
R7930:Grin2c	UTSW	11	115,147,063 (GRCm39)	missense	probably benign	0.01
R7940:Grin2c	UTSW	11	115,146,107 (GRCm39)	missense	probably damaging	1.00
R7956:Grin2c	UTSW	11	115,140,974 (GRCm39)	missense	probably benign	0.16
R8081:Grin2c	UTSW	11	115,140,719 (GRCm39)	missense	probably damaging	0.98
R8249:Grin2c	UTSW	11	115,144,663 (GRCm39)	missense	probably damaging	0.98
R8447:Grin2c	UTSW	11	115,148,215 (GRCm39)	missense	probably benign	0.01
R9034:Grin2c	UTSW	11	115,142,065 (GRCm39)	missense	probably damaging	1.00
R9409:Grin2c	UTSW	11	115,144,106 (GRCm39)	missense	probably benign	0.06
R9432:Grin2c	UTSW	11	115,142,052 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTCTTGTCACTAAGGCCCGACAC -3'
(R):5'- ATTTCAGCCCTGTCAGCTACAACC -3'

Sequencing Primer
(F):5'- GTTCCTGGATCATGAAGGCT -3'
(R):5'- CAAGAGTAAGCTGTTACATGGGC -3'

Posted On

2014-04-13