Mutagenetix > Incidental Mutation

Incidental Mutation 'R7751:Grin2c'

597254

Institutional Source

Beutler Lab

Gene Symbol

Grin2c

Ensembl Gene

ENSMUSG00000020734

Gene Name

glutamate receptor, ionotropic, NMDA2C (epsilon 3)

Synonyms

NR2C, NMDAR2C, GluRepsilon3

MMRRC Submission

045807-MU

Accession Numbers

Essential gene?

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

Stock #

R7751 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115139995-115158069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115144696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 610 (V610A)

Ref Sequence

ENSEMBL: ENSMUSP00000003351 (fasta)

Gene Model

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

AlphaFold

Q01098

Predicted Effect

probably damaging
Transcript: ENSMUST00000003351
AA Change: V610A

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

SMART Domains

Protein: ENSMUSP00000003351
Gene: ENSMUSG00000020734
AA Change: V610A

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: V610A

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

SMART Domains

Protein: ENSMUSP00000102164
Gene: ENSMUSG00000020734
AA Change: V610A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (82/84)

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
Abca15	A	T	7: 119,965,044 (GRCm39)	I769F	possibly damaging	Het
Ackr1	A	C	1: 173,159,779 (GRCm39)	W247G	probably damaging	Het
Adgrl4	G	A	3: 151,197,946 (GRCm39)	G69S	probably damaging	Het
Agrn	C	T	4: 156,260,886 (GRCm39)	S710N	probably damaging	Het
Aox3	A	G	1: 58,218,494 (GRCm39)	M1103V	probably benign	Het
Asb18	G	A	1: 89,896,206 (GRCm39)	A278V	probably benign	Het
B3gat2	A	G	1: 23,801,945 (GRCm39)	E77G	probably benign	Het
Camta1	T	C	4: 151,232,863 (GRCm39)		probably null	Het
Cbll1	A	T	12: 31,537,579 (GRCm39)	I392N	probably damaging	Het
Ccdc113	A	G	8: 96,264,829 (GRCm39)	D113G	possibly damaging	Het
Cd79a	T	C	7: 24,599,092 (GRCm39)	F148L	probably benign	Het
Chad	T	A	11: 94,455,999 (GRCm39)	C26S	probably damaging	Het
Cog4	T	C	8: 111,607,600 (GRCm39)	F696L	probably damaging	Het
Csf2rb	T	G	15: 78,225,839 (GRCm39)	S303R	probably damaging	Het
Cstpp1	A	T	2: 91,214,118 (GRCm39)	L79H	probably damaging	Het
Cubn	C	T	2: 13,365,176 (GRCm39)	G1621R	probably damaging	Het
Dennd4c	T	A	4: 86,747,179 (GRCm39)	N1454K	probably benign	Het
Dennd5b	T	C	6: 148,918,604 (GRCm39)	I853V	probably benign	Het
Dnaaf11	T	C	15: 66,321,412 (GRCm39)	E243G	probably benign	Het
Dop1a	A	T	9: 86,389,783 (GRCm39)	D561V	probably benign	Het
Dpysl4	A	G	7: 138,669,456 (GRCm39)	I45V	probably benign	Het
Ect2l	A	C	10: 18,045,153 (GRCm39)	S301A	possibly damaging	Het
Elf2	A	G	3: 51,165,035 (GRCm39)	V323A	probably damaging	Het
Epcam	C	T	17: 87,947,904 (GRCm39)	R125*	probably null	Het
Ephb4	T	C	5: 137,363,937 (GRCm39)	V612A	probably damaging	Het
Erich3	C	T	3: 154,469,426 (GRCm39)	R1293C	unknown	Het
F830045P16Rik	C	A	2: 129,302,367 (GRCm39)	L408F	probably damaging	Het
Gask1a	G	A	9: 121,793,887 (GRCm39)	V14I	probably benign	Het
Gm13102	T	C	4: 143,835,787 (GRCm39)	I485T	probably benign	Het
Gm16494	A	T	17: 47,327,800 (GRCm39)	L28*	probably null	Het
Hacd2	T	A	16: 34,922,434 (GRCm39)	Y208N	probably damaging	Het
Hlf	A	T	11: 90,278,821 (GRCm39)	F81Y	probably damaging	Het
Igfbp7	G	A	5: 77,499,134 (GRCm39)	A257V	probably damaging	Het
Il12a	A	T	3: 68,605,235 (GRCm39)	N167I	probably damaging	Het
Il1r2	G	A	1: 40,162,371 (GRCm39)	C338Y	probably damaging	Het
Irf2bpl	G	T	12: 86,930,489 (GRCm39)	H61Q	probably damaging	Het
Kansl1	A	G	11: 104,314,890 (GRCm39)	F383L	probably benign	Het
Kcnh8	A	G	17: 53,268,871 (GRCm39)	T863A	probably damaging	Het
Klhl36	C	A	8: 120,596,397 (GRCm39)	Q33K	probably benign	Het
Lrig2	A	T	3: 104,401,985 (GRCm39)	Y113*	probably null	Het
Lrrc36	T	A	8: 106,178,667 (GRCm39)	S287R	possibly damaging	Het
Mr1	A	T	1: 155,005,054 (GRCm39)	Y329N	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nectin4	G	A	1: 171,211,326 (GRCm39)		probably null	Het
Nsrp1	A	G	11: 76,940,097 (GRCm39)		probably null	Het
Or1e21	A	T	11: 73,344,372 (GRCm39)	I222N	possibly damaging	Het
Or9g3	A	G	2: 85,583,836 (GRCm39)	T44A	probably benign	Het
Pcdh8	A	T	14: 80,008,143 (GRCm39)	I140N	probably damaging	Het
Pdzd8	A	G	19: 59,333,208 (GRCm39)	V271A	probably damaging	Het
Pex3	T	A	10: 13,403,550 (GRCm39)	I324L	possibly damaging	Het
Pira12	T	A	7: 3,898,603 (GRCm39)	I282F	probably damaging	Het
Pitpnm1	T	A	19: 4,153,470 (GRCm39)	F209I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,271,149 (GRCm39)	T3135S	probably damaging	Het
Pramel32	T	C	4: 88,547,356 (GRCm39)	D192G	probably benign	Het
Prdm16	T	C	4: 154,412,756 (GRCm39)	N1082S	probably damaging	Het
Psmd12	A	T	11: 107,370,439 (GRCm39)	I13F	possibly damaging	Het
Ptgs2	A	T	1: 149,980,258 (GRCm39)	I399F	probably benign	Het
Rasa3	A	T	8: 13,618,708 (GRCm39)	S830T	probably benign	Het
Rasgef1c	A	T	11: 49,861,120 (GRCm39)	R362W	probably damaging	Het
Resf1	A	G	6: 149,226,936 (GRCm39)		probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnf217	C	A	10: 31,393,415 (GRCm39)	G389W	probably damaging	Het
Sec16b	A	T	1: 157,385,630 (GRCm39)	D675V	probably damaging	Het
Serpinb12	A	G	1: 106,877,401 (GRCm39)	Y137C	probably damaging	Het
Slc2a5	T	A	4: 150,227,591 (GRCm39)	I470N	probably damaging	Het
Slc5a1	T	C	5: 33,290,761 (GRCm39)	I115T	possibly damaging	Het
Slco1a4	A	T	6: 141,780,413 (GRCm39)	S126T	possibly damaging	Het
St6galnac2	T	C	11: 116,568,410 (GRCm39)	D351G	probably damaging	Het
Stat4	G	A	1: 52,121,711 (GRCm39)	V357M	possibly damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tdrd9	T	A	12: 111,958,982 (GRCm39)	C139S	probably benign	Het
Tmed9	G	A	13: 55,741,054 (GRCm39)	R23Q	not run	Het
Tmem150a	A	C	6: 72,336,028 (GRCm39)	H205P	probably damaging	Het
Tns2	C	A	15: 102,018,163 (GRCm39)	L350I	probably benign	Het
Tpr	A	G	1: 150,295,646 (GRCm39)	T964A	probably benign	Het
Traf3ip1	G	T	1: 91,422,479 (GRCm39)		probably benign	Het
Trem2	G	T	17: 48,653,567 (GRCm39)		probably benign	Het
Ttc14	G	A	3: 33,863,590 (GRCm39)	G666D	unknown	Het
Ulk1	T	C	5: 110,957,078 (GRCm39)	D40G	probably damaging	Het
Vmn1r30	A	G	6: 58,412,397 (GRCm39)	V145A	probably benign	Het
Vmn1r79	C	T	7: 11,910,762 (GRCm39)	Q215*	probably null	Het
Wnk2	G	A	13: 49,231,493 (GRCm39)	T16I	unknown	Het
Yme1l1	T	C	2: 23,077,856 (GRCm39)		probably null	Het
Zbtb16	T	A	9: 48,654,769 (GRCm39)	H454L	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	Het
Zrsr2-ps1	A	G	11: 22,923,595 (GRCm39)	Q123R	possibly 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
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
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'- AACCTTCTTGTCACTAAGGCC -3'
(R):5'- TCAGCCCTGTCAGCTACAAC -3'

Sequencing Primer
(F):5'- TAAGGCCCGACACAGTGTC -3'
(R):5'- AGTAAGCTGTTACATGGGCC -3'

Posted On

2019-11-26