Incidental Mutation 'IGL02796:Grin2a'
ID 392043
Institutional Source Beutler Lab
Gene Symbol Grin2a
Ensembl Gene ENSMUSG00000059003
Gene Name glutamate receptor, ionotropic, NMDA2A (epsilon 1)
Synonyms GluN2A, GluRepsilon1, NR2A, NMDAR2A
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.463) question?
Stock # IGL02796 (G1)
Quality Score 167
Status Validated
Chromosome 16
Chromosomal Location 9385762-9813424 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9402972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 838 (E838G)
Ref Sequence ENSEMBL: ENSMUSP00000142900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032331] [ENSMUST00000115835] [ENSMUST00000199708]
AlphaFold P35436
Predicted Effect possibly damaging
Transcript: ENSMUST00000032331
AA Change: E838G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032331
Gene: ENSMUSG00000059003
AA Change: E838G

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:ANF_receptor 106 301 1.6e-10 PFAM
PBPe 431 798 1.68e-70 SMART
Lig_chan-Glu_bd 439 502 2.24e-22 SMART
transmembrane domain 818 837 N/A INTRINSIC
Pfam:NMDAR2_C 839 1464 2.1e-230 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115835
AA Change: E838G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000111501
Gene: ENSMUSG00000059003
AA Change: E838G

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:ANF_receptor 99 300 9.2e-11 PFAM
PBPe 431 798 1.68e-70 SMART
Lig_chan-Glu_bd 439 502 2.24e-22 SMART
transmembrane domain 818 837 N/A INTRINSIC
Pfam:NMDAR2_C 839 1464 1.2e-266 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000199708
AA Change: E838G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142900
Gene: ENSMUSG00000059003
AA Change: E838G

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:ANF_receptor 106 301 1.6e-10 PFAM
PBPe 431 798 1.68e-70 SMART
Lig_chan-Glu_bd 439 502 2.24e-22 SMART
transmembrane domain 818 837 N/A INTRINSIC
Pfam:NMDAR2_C 839 1464 2.1e-230 PFAM
Meta Mutation Damage Score 0.8801 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit jumpiness, mildly impaired long-term potentiation and spatial learning, increased locomotor activity and metabolism of dopamine and serotonin, and loss of analgesic tolerance after repeated morphine doses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 A T 19: 55,266,601 (GRCm39) K86* probably null Het
Ambp C A 4: 63,072,169 (GRCm39) probably benign Het
Atp6v0d2 A T 4: 19,887,324 (GRCm39) M208K probably damaging Het
Brinp1 C G 4: 68,680,427 (GRCm39) R701P probably damaging Het
Btnl9 T C 11: 49,060,008 (GRCm39) D580G probably damaging Het
Cand1 A T 10: 119,049,543 (GRCm39) L401H probably damaging Het
Ccdc66 T C 14: 27,208,523 (GRCm39) E577G possibly damaging Het
Ccdc93 C A 1: 121,418,895 (GRCm39) D483E probably damaging Het
Cd38 T C 5: 44,063,555 (GRCm39) L216P probably damaging Het
Cdr1 C T X: 60,228,087 (GRCm39) D360N possibly damaging Het
Cibar2 C T 8: 120,904,138 (GRCm39) probably benign Het
Col9a3 G T 2: 180,255,955 (GRCm39) D443Y probably damaging Het
Cpt1b C T 15: 89,309,005 (GRCm39) V66I probably benign Het
Cyp8b1 T A 9: 121,744,564 (GRCm39) Y256F probably benign Het
Dennd10 A G 19: 60,806,081 (GRCm39) probably benign Het
Dync1i1 A G 6: 5,757,385 (GRCm39) N48S probably benign Het
Ehd3 T A 17: 74,123,396 (GRCm39) L133Q probably damaging Het
Eif6 C A 2: 155,668,068 (GRCm39) R57L probably damaging Het
Fcgbp T A 7: 27,800,576 (GRCm39) probably benign Het
Fgl1 C T 8: 41,650,095 (GRCm39) A229T probably benign Het
Flg2 C T 3: 93,110,920 (GRCm39) R983W unknown Het
Gdf7 A T 12: 8,351,666 (GRCm39) S90T unknown Het
Ggta1 T C 2: 35,303,329 (GRCm39) probably benign Het
Gm44859 C T 19: 12,014,112 (GRCm39) probably benign Het
Grin2c A G 11: 115,141,543 (GRCm39) probably benign Het
Grm1 T C 10: 10,565,411 (GRCm39) T966A probably benign Het
Gtpbp1 A G 15: 79,601,186 (GRCm39) I468M possibly damaging Het
Gucy1b2 G A 14: 62,645,143 (GRCm39) P639S probably benign Het
Hat1 T C 2: 71,250,700 (GRCm39) probably null Het
Hira A T 16: 18,744,404 (GRCm39) I374F probably benign Het
Htt C A 5: 35,034,826 (GRCm39) Q2024K probably benign Het
Kcnj6 A G 16: 94,633,778 (GRCm39) M111T probably benign Het
Loxhd1 T A 18: 77,456,811 (GRCm39) probably benign Het
Lrif1 T A 3: 106,642,752 (GRCm39) M619K probably benign Het
Lrrc8b G A 5: 105,629,211 (GRCm39) G519D probably damaging Het
Map3k7 A G 4: 31,979,692 (GRCm39) probably benign Het
Or2ah1 T C 2: 85,653,933 (GRCm39) I206T probably benign Het
Or4d6 T A 19: 12,086,248 (GRCm39) I221F possibly damaging Het
P2ry12 T C 3: 59,125,302 (GRCm39) I124M probably damaging Het
Paxbp1 A G 16: 90,822,182 (GRCm39) probably benign Het
Polb A T 8: 23,121,474 (GRCm39) I257N probably damaging Het
Psg27 A T 7: 18,295,875 (GRCm39) V190E probably benign Het
Rabgap1 T A 2: 37,362,318 (GRCm39) N54K probably damaging Het
Sacm1l T A 9: 123,377,989 (GRCm39) W90R possibly damaging Het
Snrpb2 A T 2: 142,906,487 (GRCm39) M1L probably benign Het
Spata31d1d A G 13: 59,876,057 (GRCm39) Y493H possibly damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Spocd1 A G 4: 129,841,548 (GRCm39) probably benign Het
Tbc1d5 G T 17: 51,273,652 (GRCm39) H123Q probably damaging Het
Ttn T C 2: 76,608,445 (GRCm39) N17826S probably damaging Het
Tubgcp6 A G 15: 89,006,593 (GRCm39) I143T probably benign Het
Usp48 A G 4: 137,338,029 (GRCm39) Y268C probably damaging Het
Zfhx4 G A 3: 5,464,599 (GRCm39) V1586M probably damaging Het
Zfp146 C T 7: 29,861,983 (GRCm39) V20I probably benign Het
Zfp263 G A 16: 3,564,740 (GRCm39) E252K probably benign Het
Other mutations in Grin2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01777:Grin2a APN 16 9,461,994 (GRCm39) missense probably benign 0.29
IGL03288:Grin2a APN 16 9,487,704 (GRCm39) missense possibly damaging 0.85
PIT4402001:Grin2a UTSW 16 9,462,063 (GRCm39) missense possibly damaging 0.77
PIT4494001:Grin2a UTSW 16 9,402,960 (GRCm39) missense probably damaging 0.98
R0055:Grin2a UTSW 16 9,487,671 (GRCm39) missense probably damaging 0.99
R0055:Grin2a UTSW 16 9,487,671 (GRCm39) missense probably damaging 0.99
R0164:Grin2a UTSW 16 9,812,685 (GRCm39) critical splice donor site probably null
R0164:Grin2a UTSW 16 9,812,685 (GRCm39) critical splice donor site probably null
R0211:Grin2a UTSW 16 9,397,037 (GRCm39) missense possibly damaging 0.86
R0390:Grin2a UTSW 16 9,397,449 (GRCm39) missense possibly damaging 0.85
R0659:Grin2a UTSW 16 9,810,336 (GRCm39) missense probably damaging 0.98
R0661:Grin2a UTSW 16 9,810,336 (GRCm39) missense probably damaging 0.98
R0734:Grin2a UTSW 16 9,397,475 (GRCm39) missense possibly damaging 0.71
R1524:Grin2a UTSW 16 9,481,467 (GRCm39) missense possibly damaging 0.55
R1542:Grin2a UTSW 16 9,397,067 (GRCm39) missense probably damaging 0.98
R1556:Grin2a UTSW 16 9,525,579 (GRCm39) missense probably benign 0.18
R1605:Grin2a UTSW 16 9,481,194 (GRCm39) missense possibly damaging 0.46
R1792:Grin2a UTSW 16 9,810,259 (GRCm39) missense possibly damaging 0.53
R2024:Grin2a UTSW 16 9,462,107 (GRCm39) missense possibly damaging 0.76
R2057:Grin2a UTSW 16 9,487,608 (GRCm39) missense probably benign 0.14
R2344:Grin2a UTSW 16 9,481,099 (GRCm39) missense probably benign 0.03
R2847:Grin2a UTSW 16 9,579,829 (GRCm39) missense possibly damaging 0.73
R2848:Grin2a UTSW 16 9,579,829 (GRCm39) missense possibly damaging 0.73
R2981:Grin2a UTSW 16 9,462,087 (GRCm39) missense possibly damaging 0.89
R4197:Grin2a UTSW 16 9,579,831 (GRCm39) missense probably damaging 1.00
R4342:Grin2a UTSW 16 9,471,453 (GRCm39) missense possibly damaging 0.52
R4741:Grin2a UTSW 16 9,481,376 (GRCm39) missense probably damaging 1.00
R4891:Grin2a UTSW 16 9,475,570 (GRCm39) missense possibly damaging 0.51
R4925:Grin2a UTSW 16 9,487,687 (GRCm39) missense probably damaging 0.98
R5563:Grin2a UTSW 16 9,525,581 (GRCm39) missense probably benign 0.18
R5645:Grin2a UTSW 16 9,810,090 (GRCm39) missense probably damaging 0.98
R5769:Grin2a UTSW 16 9,579,390 (GRCm39) missense possibly damaging 0.89
R5885:Grin2a UTSW 16 9,579,769 (GRCm39) missense possibly damaging 0.95
R6065:Grin2a UTSW 16 9,579,771 (GRCm39) missense possibly damaging 0.92
R6083:Grin2a UTSW 16 9,397,404 (GRCm39) missense probably benign 0.02
R6137:Grin2a UTSW 16 9,471,313 (GRCm39) missense probably benign 0.32
R6286:Grin2a UTSW 16 9,579,639 (GRCm39) missense possibly damaging 0.93
R6342:Grin2a UTSW 16 9,397,198 (GRCm39) missense probably damaging 0.98
R6697:Grin2a UTSW 16 9,487,704 (GRCm39) missense possibly damaging 0.85
R6924:Grin2a UTSW 16 9,481,092 (GRCm39) missense possibly damaging 0.71
R7070:Grin2a UTSW 16 9,397,288 (GRCm39) missense possibly damaging 0.92
R7235:Grin2a UTSW 16 9,397,129 (GRCm39) missense probably damaging 0.98
R7274:Grin2a UTSW 16 9,396,986 (GRCm39) missense possibly damaging 0.71
R7669:Grin2a UTSW 16 9,810,327 (GRCm39) missense probably benign
R7990:Grin2a UTSW 16 9,397,040 (GRCm39) missense possibly damaging 0.71
R8261:Grin2a UTSW 16 9,481,382 (GRCm39) missense probably damaging 0.97
R8503:Grin2a UTSW 16 9,481,413 (GRCm39) missense probably damaging 0.97
R8679:Grin2a UTSW 16 9,403,089 (GRCm39) missense possibly damaging 0.90
R8700:Grin2a UTSW 16 9,397,412 (GRCm39) missense probably benign 0.32
R8823:Grin2a UTSW 16 9,487,758 (GRCm39) missense possibly damaging 0.96
R9122:Grin2a UTSW 16 9,397,186 (GRCm39) missense possibly damaging 0.93
R9656:Grin2a UTSW 16 9,397,471 (GRCm39) missense possibly damaging 0.71
R9674:Grin2a UTSW 16 9,471,265 (GRCm39) nonsense probably null
R9786:Grin2a UTSW 16 9,471,466 (GRCm39) missense possibly damaging 0.71
X0024:Grin2a UTSW 16 9,481,063 (GRCm39) missense probably benign 0.36
Z1177:Grin2a UTSW 16 9,481,441 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- AATGCCCATGTGCCTGATTCTC -3'
(R):5'- GAGAATGCAACTATGGTCAAAACC -3'

Sequencing Primer
(F):5'- ATGTGCCTGATTCTCTGAACTG -3'
(R):5'- AGTGTCTTCACCAAGGCATG -3'
Posted On 2016-06-08