Mutagenetix > Incidental Mutation

Incidental Mutation 'R1803:Grin2c'

203312

Institutional Source

Beutler Lab

Gene Symbol

Grin2c

Ensembl Gene

ENSMUSG00000020734

Gene Name

glutamate receptor, ionotropic, NMDA2C (epsilon 3)

Synonyms

NR2C, NMDAR2C, GluRepsilon3

MMRRC Submission

039833-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.421) question?

Stock #

R1803 (G1)

Quality Score

190

Status

Not validated

Chromosome

Chromosomal Location

115139995-115158069 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 115151558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102164 (fasta)

Gene Model

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

AlphaFold

Q01098

Predicted Effect

probably null
Transcript: ENSMUST00000003351

SMART Domains

Protein: ENSMUSP00000003351
Gene: ENSMUSG00000020734

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 null
Transcript: ENSMUST00000106554

SMART Domains

Protein: ENSMUSP00000102164
Gene: ENSMUSG00000020734

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	A	T	17: 79,935,095 (GRCm39)		probably benign	Het
Adgrl3	C	T	5: 81,919,464 (GRCm39)	R586*	probably null	Het
Arpp21	T	C	9: 111,956,466 (GRCm39)	T471A	possibly damaging	Het
Blnk	T	C	19: 40,940,821 (GRCm39)	E194G	probably damaging	Het
Cd44	G	A	2: 102,664,597 (GRCm39)	P332S	probably damaging	Het
Cd47	T	C	16: 49,688,169 (GRCm39)	F30L	possibly damaging	Het
Cdh23	T	C	10: 60,167,060 (GRCm39)	E1861G	probably damaging	Het
Cdkal1	T	A	13: 29,701,454 (GRCm39)	M332L	probably damaging	Het
Cul9	A	G	17: 46,814,023 (GRCm39)	S2284P	probably damaging	Het
Cyp2a5	G	T	7: 26,534,971 (GRCm39)		probably null	Het
Dcp2	T	C	18: 44,528,984 (GRCm39)	I33T	probably damaging	Het
Ddx52	A	T	11: 83,836,958 (GRCm39)	I150L	probably damaging	Het
Dennd5a	T	A	7: 109,497,820 (GRCm39)	T1067S	probably benign	Het
Dnpep	A	T	1: 75,286,058 (GRCm39)	L419*	probably null	Het
Dock8	A	G	19: 25,109,599 (GRCm39)	K927R	probably benign	Het
Dpy19l4	A	T	4: 11,281,020 (GRCm39)	V475E	possibly damaging	Het
Edf1	C	T	2: 25,450,206 (GRCm39)	S41F	probably damaging	Het
Elapor2	A	G	5: 9,477,832 (GRCm39)	H410R	probably benign	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Epha3	T	C	16: 63,422,651 (GRCm39)	K579E	probably benign	Het
Exoc1	A	G	5: 76,709,288 (GRCm39)	N23S	probably benign	Het
Flt3	C	A	5: 147,303,865 (GRCm39)	E358*	probably null	Het
Fzd1	A	T	5: 4,806,385 (GRCm39)	I399K	probably damaging	Het
Gdi2	T	A	13: 3,614,547 (GRCm39)	Y333*	probably null	Het
Gm10479	A	G	12: 20,483,654 (GRCm39)	H91R	probably benign	Het
Gm10842	G	A	11: 105,037,867 (GRCm39)	R50K	unknown	Het
Grk2	C	T	19: 4,344,911 (GRCm39)	V53M	probably damaging	Het
H2-M10.2	C	T	17: 36,596,763 (GRCm39)	M104I	probably benign	Het
Hyou1	C	T	9: 44,295,479 (GRCm39)	Q290*	probably null	Het
Inka1	A	G	9: 107,861,938 (GRCm39)	V128A	probably benign	Het
Itgb2	T	C	10: 77,400,624 (GRCm39)	S746P	probably benign	Het
Jmjd7	C	T	2: 119,860,589 (GRCm39)	L39F	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klhl2	T	C	8: 65,212,831 (GRCm39)	E236G	probably damaging	Het
Krtap19-4	C	A	16: 88,681,879 (GRCm39)	G26C	unknown	Het
Krtap4-16	G	A	11: 99,741,998 (GRCm39)	T134I	possibly damaging	Het
Lamb2	A	G	9: 108,365,298 (GRCm39)	H1318R	probably benign	Het
Mab21l3	G	A	3: 101,742,446 (GRCm39)	T38M	probably benign	Het
Mfsd10	A	T	5: 34,794,094 (GRCm39)	D6E	possibly damaging	Het
Mnat1	G	T	12: 73,226,007 (GRCm39)	G91*	probably null	Het
Mns1	A	T	9: 72,360,016 (GRCm39)	I389F	probably damaging	Het
Morc1	A	T	16: 48,443,001 (GRCm39)	T829S	probably benign	Het
Morn5	T	A	2: 35,943,089 (GRCm39)	V63E	probably benign	Het
Mybpc1	T	C	10: 88,389,157 (GRCm39)	T404A	possibly damaging	Het
Npc1l1	A	T	11: 6,178,846 (GRCm39)	M188K	probably damaging	Het
Nrcam	T	A	12: 44,618,991 (GRCm39)	M846K	probably benign	Het
Nup210	A	C	6: 91,051,264 (GRCm39)	F373C	probably damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5b111	A	T	19: 13,291,535 (GRCm39)	V38E	possibly damaging	Het
Or7g18	T	C	9: 18,787,376 (GRCm39)	V248A	probably damaging	Het
Osbpl8	T	C	10: 111,110,910 (GRCm39)	S471P	probably damaging	Het
Plekhn1	A	T	4: 156,306,838 (GRCm39)	I517N	probably benign	Het
Plin4	G	T	17: 56,411,931 (GRCm39)	T700K	probably damaging	Het
Plxna4	A	T	6: 32,494,379 (GRCm39)	V79D	probably damaging	Het
Prdm16	A	T	4: 154,419,718 (GRCm39)	M897K	probably damaging	Het
Ptprg	T	A	14: 12,091,410 (GRCm38)		probably null	Het
Rcan2	G	T	17: 44,347,924 (GRCm39)	C211F	probably damaging	Het
Rigi	A	G	4: 40,224,013 (GRCm39)	S289P	probably benign	Het
Rxfp1	C	T	3: 79,645,076 (GRCm39)	C9Y	probably benign	Het
Scn2a	G	A	2: 65,501,111 (GRCm39)		probably null	Het
Scnn1a	A	C	6: 125,309,157 (GRCm39)	R264S	probably damaging	Het
Sema4g	T	C	19: 44,986,459 (GRCm39)	V345A	probably benign	Het
Sgo2b	T	A	8: 64,380,426 (GRCm39)	D802V	probably benign	Het
Slc25a21	G	A	12: 56,904,872 (GRCm39)	T54I	probably benign	Het
Slc25a46	C	T	18: 31,727,641 (GRCm39)	E223K	probably damaging	Het
Slc25a54	A	G	3: 109,010,013 (GRCm39)	I171V	probably benign	Het
Slc7a6	T	C	8: 106,919,088 (GRCm39)	V224A	possibly damaging	Het
Smchd1	A	T	17: 71,694,001 (GRCm39)	V1248E	probably damaging	Het
Sort1	C	A	3: 108,233,015 (GRCm39)	F196L	probably damaging	Het
Sptbn4	G	A	7: 27,118,008 (GRCm39)	T357M	probably damaging	Het
Srrm3	T	A	5: 135,885,983 (GRCm39)	W308R	probably damaging	Het
Stard9	A	T	2: 120,531,970 (GRCm39)	E2742D	probably benign	Het
Tas1r1	T	A	4: 152,116,705 (GRCm39)	I310F	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tff1	A	T	17: 31,380,560 (GRCm39)	C85*	probably null	Het
Tlr11	C	T	14: 50,598,104 (GRCm39)	T30I	probably benign	Het
Trio	T	C	15: 27,748,426 (GRCm39)	T1265A	probably benign	Het
Ttc7b	T	C	12: 100,373,261 (GRCm39)	M338V	possibly damaging	Het
Umod	T	A	7: 119,063,947 (GRCm39)	S620C	probably damaging	Het
Ust	C	A	10: 8,173,819 (GRCm39)		probably null	Het
Vmn1r176	A	T	7: 23,534,609 (GRCm39)	S181R	probably damaging	Het
Vmn1r202	T	C	13: 22,686,313 (GRCm39)	T35A	probably benign	Het
Vmn1r39	C	A	6: 66,781,895 (GRCm39)	R104L	probably benign	Het
Vps13b	T	A	15: 35,430,351 (GRCm39)	Y286*	probably null	Het
Zfp579	G	A	7: 4,996,769 (GRCm39)	R381C	probably damaging	Het
Zfp85	A	G	13: 67,899,747 (GRCm39)	S71P	probably benign	Het
Zfyve16	A	T	13: 92,640,593 (GRCm39)	V1254E	probably damaging	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
R1512:Grin2c	UTSW	11	115,144,676 (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
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'- ACTGATACTGAGGAGCCAGG -3'
(R):5'- TGGACTTGCCTCTGGAGATC -3'

Sequencing Primer
(F):5'- AGGAGCCAGGGAACATCCTC -3'
(R):5'- TGGAGATCCAGCCACTCAC -3'

Posted On

2014-06-23