Incidental Mutation 'R6065:Grin2a'
ID 484020
Institutional Source Beutler Lab
Gene Symbol Grin2a
Ensembl Gene ENSMUSG00000059003
Gene Name glutamate receptor, ionotropic, NMDA2A (epsilon 1)
Synonyms GluN2A, GluRepsilon1, NR2A, NMDAR2A
MMRRC Submission 044229-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.463) question?
Stock # R6065 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 9385762-9813424 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9579771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 164 (D164G)
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: D164G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032331
Gene: ENSMUSG00000059003
AA Change: D164G

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: D164G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111501
Gene: ENSMUSG00000059003
AA Change: D164G

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 noncoding transcript
Transcript: ENSMUST00000199267
Predicted Effect possibly damaging
Transcript: ENSMUST00000199708
AA Change: D164G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142900
Gene: ENSMUSG00000059003
AA Change: D164G

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff1 T C 5: 103,990,118 (GRCm39) S871P probably damaging Het
Ccdc150 T C 1: 54,302,758 (GRCm39) I126T possibly damaging Het
Ccdc87 A T 19: 4,891,268 (GRCm39) M587L probably benign Het
Cd300ld2 G A 11: 114,903,428 (GRCm39) probably benign Het
Chsy3 GT G 18: 59,309,238 (GRCm39) 163 probably null Het
Dchs1 T C 7: 105,404,628 (GRCm39) D2638G probably damaging Het
Dnah5 A T 15: 28,230,614 (GRCm39) I171F possibly damaging Het
Dnah9 T C 11: 65,746,164 (GRCm39) D3983G probably benign Het
Dnah9 A G 11: 66,036,223 (GRCm39) S396P possibly damaging Het
Fbxw15 T A 9: 109,397,246 (GRCm39) D18V probably damaging Het
Fcnb A C 2: 27,969,922 (GRCm39) C106G probably damaging Het
Firrm A T 1: 163,786,957 (GRCm39) L704Q probably benign Het
Firrm A G 1: 163,815,257 (GRCm39) M88T probably damaging Het
Gm3453 T C 14: 5,978,233 (GRCm38) T57A probably damaging Het
Hmcn1 C T 1: 150,646,081 (GRCm39) V706I probably benign Het
Kcnj12 C T 11: 60,960,703 (GRCm39) L334F probably damaging Het
Lama3 T C 18: 12,602,985 (GRCm39) Y1057H possibly damaging Het
Mycbpap T C 11: 94,399,013 (GRCm39) probably null Het
Myo18b A G 5: 112,840,647 (GRCm39) L2382P probably benign Het
Ngef T A 1: 87,405,370 (GRCm39) N680I probably damaging Het
Nop2 A G 6: 125,121,528 (GRCm39) H770R probably benign Het
Pcdhgc3 A G 18: 37,940,729 (GRCm39) T377A possibly damaging Het
Prl7b1 T C 13: 27,788,529 (GRCm39) K109E probably benign Het
Ptprk C T 10: 28,351,166 (GRCm39) T553I probably damaging Het
Rab3d T C 9: 21,821,815 (GRCm39) T209A probably benign Het
Ralgapa1 A G 12: 55,804,709 (GRCm39) probably null Het
Rspry1 T C 8: 95,349,615 (GRCm39) M1T probably null Het
Sec13 G T 6: 113,707,793 (GRCm39) P176T probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc4a7 C A 14: 14,739,836 (GRCm38) T236K probably benign Het
Svil T G 18: 5,106,724 (GRCm39) V1855G probably damaging Het
Syt2 A G 1: 134,675,295 (GRCm39) N382S probably benign Het
Tm7sf2 A G 19: 6,113,416 (GRCm39) M345T possibly damaging Het
Ubr4 T G 4: 139,148,549 (GRCm39) C1678G probably damaging Het
Urb1 A G 16: 90,600,220 (GRCm39) S188P probably benign Het
Vmn2r82 A G 10: 79,221,210 (GRCm39) S524G probably damaging Het
Wdr19 A G 5: 65,379,056 (GRCm39) N233S 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
IGL02796:Grin2a UTSW 16 9,402,972 (GRCm39) missense possibly damaging 0.72
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
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'- CCAGAAGAAATCGTAGCCGGTG -3'
(R):5'- CCAGAAAGGGCAGCTCTAAG -3'

Posted On 2017-07-14