Incidental Mutation 'IGL01539:Grin2c'
ID 90110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grin2c
Ensembl Gene ENSMUSG00000020734
Gene Name glutamate receptor, ionotropic, NMDA2C (epsilon 3)
Synonyms NR2C, NMDAR2C, GluRepsilon3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # IGL01539
Quality Score
Status
Chromosome 11
Chromosomal Location 115139995-115158069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115140932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 1062 (Q1062R)
Ref Sequence ENSEMBL: ENSMUSP00000102164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003351] [ENSMUST00000061450] [ENSMUST00000100235] [ENSMUST00000106554]
AlphaFold Q01098
Predicted Effect probably benign
Transcript: ENSMUST00000003351
AA Change: Q1062R

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000003351
Gene: ENSMUSG00000020734
AA Change: Q1062R

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 benign
Transcript: ENSMUST00000061450
SMART Domains Protein: ENSMUSP00000056805
Gene: ENSMUSG00000045980

DomainStartEndE-ValueType
Pfam:Aa_trans 13 77 3.4e-10 PFAM
low complexity region 84 100 N/A INTRINSIC
Pfam:Aa_trans 128 487 4.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100235
SMART Domains Protein: ENSMUSP00000097807
Gene: ENSMUSG00000045980

DomainStartEndE-ValueType
Pfam:Aa_trans 13 81 5.5e-11 PFAM
low complexity region 84 100 N/A INTRINSIC
Pfam:Aa_trans 127 485 1.2e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106554
AA Change: Q1062R

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102164
Gene: ENSMUSG00000020734
AA Change: Q1062R

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: ENSMUST00000156230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158919
Coding Region Coverage
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca4b T A 3: 144,631,918 (GRCm39) M196L probably benign Het
Cyp4a14 T C 4: 115,344,374 (GRCm39) N497S possibly damaging Het
Eif3b T C 5: 140,416,008 (GRCm39) probably benign Het
Ina A G 19: 47,003,903 (GRCm39) E237G probably damaging Het
Lmx1b T C 2: 33,529,510 (GRCm39) D83G possibly damaging Het
Macf1 A G 4: 123,289,701 (GRCm39) probably benign Het
Muc6 T A 7: 141,236,306 (GRCm39) M406L probably benign Het
Myo15b T C 11: 115,754,299 (GRCm39) I933T probably benign Het
Or4c121 A G 2: 89,023,836 (GRCm39) F181L possibly damaging Het
Or6c204 T C 10: 129,022,804 (GRCm39) N162S probably benign Het
Pde1b A T 15: 103,433,772 (GRCm39) probably benign Het
Rab29 G A 1: 131,798,445 (GRCm39) R75Q probably damaging Het
Scn10a A T 9: 119,467,764 (GRCm39) I792N probably damaging Het
Serpinb6a A T 13: 34,114,117 (GRCm39) V70D probably damaging Het
Slco1a7 A G 6: 141,673,333 (GRCm39) S402P possibly damaging Het
Spart A G 3: 55,024,723 (GRCm39) D106G possibly damaging Het
Sucla2 A G 14: 73,828,561 (GRCm39) E359G probably damaging Het
Sycp2 T C 2: 178,016,488 (GRCm39) Y658C probably damaging Het
Tenm2 T A 11: 35,997,654 (GRCm39) T811S possibly damaging Het
Trim66 C A 7: 109,054,273 (GRCm39) M1312I probably benign Het
Tspan18 A G 2: 93,041,198 (GRCm39) S135P probably damaging Het
Ube2j1 T C 4: 33,043,993 (GRCm39) probably benign Het
Ubr1 A C 2: 120,756,494 (GRCm39) V711G possibly damaging Het
Veph1 T C 3: 66,065,496 (GRCm39) T524A probably benign Het
Vmn1r222 A T 13: 23,417,059 (GRCm39) F51L probably benign Het
Vwf G T 6: 125,567,225 (GRCm39) V338L possibly damaging Het
Zfp770 G T 2: 114,027,574 (GRCm39) A165E probably damaging 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
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
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
Posted On 2013-12-03