Incidental Mutation 'R5553:Grin2c'
ID 435233
Institutional Source Beutler Lab
Gene Symbol Grin2c
Ensembl Gene ENSMUSG00000020734
Gene Name glutamate receptor, ionotropic, NMDA2C (epsilon 3)
Synonyms NR2C, NMDAR2C, GluRepsilon3
MMRRC Submission 043110-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R5553 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 115139995-115158069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 115143551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 736 (M736I)
Ref Sequence ENSEMBL: ENSMUSP00000102164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003351] [ENSMUST00000106554]
AlphaFold Q01098
Predicted Effect probably null
Transcript: ENSMUST00000003351
AA Change: M736I

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000003351
Gene: ENSMUSG00000020734
AA Change: M736I

DomainStartEndE-ValueType
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
AA Change: M736I

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102164
Gene: ENSMUSG00000020734
AA Change: M736I

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,792,690 (GRCm39) I86F probably damaging Het
Abca13 C T 11: 9,278,158 (GRCm39) L3113F probably damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Ano8 T A 8: 71,937,641 (GRCm39) probably null Het
Arid1b A T 17: 5,364,152 (GRCm39) S1041C probably damaging Het
Bsn T A 9: 107,987,620 (GRCm39) probably benign Het
Cbr3 A G 16: 93,480,451 (GRCm39) E80G possibly damaging Het
Chd1 A G 17: 17,605,875 (GRCm39) E271G probably benign Het
Dock3 T A 9: 106,868,309 (GRCm39) K658N possibly damaging Het
Dot1l CCAGCCCCACCCTCAGCC CCAGCC 10: 80,619,462 (GRCm39) probably benign Het
Dppa1 T A 11: 46,503,861 (GRCm39) probably null Het
Fen1 T C 19: 10,177,787 (GRCm39) N219S probably benign Het
Fsip2 A G 2: 82,793,090 (GRCm39) T416A probably benign Het
Gm14393 A T 2: 174,903,639 (GRCm39) C89* probably null Het
Heatr5b A T 17: 79,060,780 (GRCm39) probably null Het
Hspbap1 G T 16: 35,621,967 (GRCm39) W104L probably damaging Het
Igfn1 C T 1: 135,895,622 (GRCm39) G1648E probably damaging Het
Irf4 A G 13: 30,935,811 (GRCm39) Y122C probably damaging Het
Kremen2 A G 17: 23,960,776 (GRCm39) probably benign Het
Niban1 C T 1: 151,592,986 (GRCm39) T557M probably damaging Het
Nubpl T A 12: 52,228,082 (GRCm39) L169M possibly damaging Het
Nwd1 T C 8: 73,431,604 (GRCm39) S1200P possibly damaging Het
Or1j20 A G 2: 36,760,477 (GRCm39) I300V probably benign Het
Or5p61 A T 7: 107,758,478 (GRCm39) S201T probably benign Het
Parp14 G T 16: 35,677,306 (GRCm39) H887Q probably benign Het
Paxip1 G A 5: 27,980,637 (GRCm39) probably benign Het
Piwil1 T C 5: 128,822,565 (GRCm39) M392T probably benign Het
Plekhm3 T C 1: 64,961,045 (GRCm39) S404G possibly damaging Het
Prelid3a T C 18: 67,610,093 (GRCm39) L141P probably damaging Het
Ptprb T A 10: 116,186,090 (GRCm39) V1715E probably damaging Het
Rc3h2 G A 2: 37,288,323 (GRCm39) R420* probably null Het
Selenon C A 4: 134,268,228 (GRCm39) R435L probably damaging Het
Slc29a4 T C 5: 142,705,791 (GRCm39) L425P probably damaging Het
Slc30a9 T A 5: 67,502,947 (GRCm39) probably null Het
Slc9a5 T C 8: 106,083,672 (GRCm39) V404A probably damaging Het
Ssc5d A T 7: 4,939,289 (GRCm39) D575V probably damaging Het
Ttn A C 2: 76,721,940 (GRCm39) probably null Het
Vmn2r100 A G 17: 19,725,110 (GRCm39) Q13R possibly damaging Het
Wfikkn1 T A 17: 26,097,468 (GRCm39) L285F possibly damaging Het
Zcchc17 A G 4: 130,247,927 (GRCm39) probably null Het
Other mutations in Grin2c
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CCTGGAACCTAGAACTGATGGAAC -3'
(R):5'- GAGGCACTGTATATTCTTGGGC -3'

Sequencing Primer
(F):5'- GGAACCTAGAACTGATGGAACTCACC -3'
(R):5'- CCTACCCTTTCTGAGAAATGAGG -3'
Posted On 2016-10-24