Incidental Mutation 'R6083:Grin2a'
ID 482335
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 044242-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.463) question?
Stock # R6083 (G1)
Quality Score 132.008
Status Not validated
Chromosome 16
Chromosomal Location 9385762-9813424 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 9397404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 894 (M894I)
Ref Sequence ENSEMBL: ENSMUSP00000142900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032331] [ENSMUST00000115835] [ENSMUST00000199708]
AlphaFold P35436
Predicted Effect probably benign
Transcript: ENSMUST00000032331
AA Change: M894I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000032331
Gene: ENSMUSG00000059003
AA Change: M894I

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 probably benign
Transcript: ENSMUST00000115835
AA Change: M894I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000111501
Gene: ENSMUSG00000059003
AA Change: M894I

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 probably benign
Transcript: ENSMUST00000199708
AA Change: M894I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000142900
Gene: ENSMUSG00000059003
AA Change: M894I

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: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 96% (76/79)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C A 11: 58,769,677 (GRCm39) P73Q possibly damaging Het
Aak1 A T 6: 86,940,978 (GRCm39) I591F unknown Het
Ace C A 11: 105,876,093 (GRCm39) Y816* probably null Het
Ahnak2 A G 12: 112,746,715 (GRCm39) V1205A probably benign Het
Ahnak2 T G 12: 112,746,589 (GRCm39) Q1076P probably benign Het
Ap2a1 G A 7: 44,557,175 (GRCm39) R263W probably damaging Het
Arhgap29 A G 3: 121,786,397 (GRCm39) T257A probably benign Het
Bora A T 14: 99,299,730 (GRCm39) Q234L possibly damaging Het
Ccdc17 A T 4: 116,454,123 (GRCm39) Q47L possibly damaging Het
Cep170 C T 1: 176,602,191 (GRCm39) R305H probably damaging Het
Cyb5r4 C T 9: 86,939,221 (GRCm39) P335S probably damaging Het
Cyp2c54 A G 19: 40,062,206 (GRCm39) L17P probably benign Het
Cyp2c69 A T 19: 39,837,900 (GRCm39) V394E probably damaging Het
Dedd2 G A 7: 24,910,715 (GRCm39) P154S probably benign Het
Defb36 A T 2: 152,446,408 (GRCm39) M1L unknown Het
Dnaja1 A G 4: 40,731,713 (GRCm39) D263G probably benign Het
Dock10 T C 1: 80,510,148 (GRCm39) N1560S probably damaging Het
Efnb2 T C 8: 8,672,328 (GRCm39) probably null Het
Eif3e A G 15: 43,129,540 (GRCm39) I196T probably damaging Het
Ercc4 T A 16: 12,927,903 (GRCm39) C24* probably null Het
Fmn1 A G 2: 113,194,648 (GRCm39) E116G unknown Het
Gnas A G 2: 174,139,655 (GRCm39) M1V probably null Het
Herc2 G T 7: 55,878,253 (GRCm39) S4566I probably benign Het
Hmcn1 G A 1: 150,631,044 (GRCm39) P918L probably damaging Het
Hmcn1 G T 1: 150,631,045 (GRCm39) P918T probably damaging Het
Hsd3b2 T A 3: 98,619,372 (GRCm39) Y191F possibly damaging Het
Ifit1bl2 A C 19: 34,597,217 (GRCm39) F133C possibly damaging Het
Itih2 T C 2: 10,113,705 (GRCm39) probably benign Het
Itsn1 T C 16: 91,649,899 (GRCm39) L191P probably benign Het
Kdr T C 5: 76,105,026 (GRCm39) K1068R probably damaging Het
Lmtk2 T C 5: 144,119,574 (GRCm39) L1345P probably damaging Het
Man2b2 T A 5: 36,966,385 (GRCm39) D936V probably damaging Het
Mapk1ip1 G A 7: 138,438,317 (GRCm39) R38* probably null Het
Med13l T C 5: 118,859,551 (GRCm39) V246A possibly damaging Het
Mlec T A 5: 115,286,108 (GRCm39) T248S probably benign Het
Mslnl T A 17: 25,956,876 (GRCm39) V54D possibly damaging Het
Muc16 G A 9: 18,568,508 (GRCm39) T1337I unknown Het
Nek7 C T 1: 138,443,392 (GRCm39) S187N probably damaging Het
Neto2 A G 8: 86,367,214 (GRCm39) V538A probably benign Het
Nktr T C 9: 121,579,202 (GRCm39) probably benign Het
Npy6r A G 18: 44,409,559 (GRCm39) K327E probably damaging Het
Or2ag1 A G 7: 106,472,789 (GRCm39) I221T probably damaging Het
Or3a1c A G 11: 74,046,396 (GRCm39) M139V possibly damaging Het
Or4a72 T C 2: 89,406,016 (GRCm39) D18G probably benign Het
Or4c123 T A 2: 89,127,368 (GRCm39) D82V probably damaging Het
Or5b109 A T 19: 13,211,889 (GRCm39) I92F probably benign Het
Pcdhga4 A T 18: 37,820,478 (GRCm39) N676Y probably damaging Het
Pde2a T C 7: 101,152,086 (GRCm39) I331T possibly damaging Het
Pip5k1b A T 19: 24,281,399 (GRCm39) Y486* probably null Het
Plch2 A G 4: 155,085,275 (GRCm39) M272T probably benign Het
Rbm12 G A 2: 155,939,646 (GRCm39) probably benign Het
Rgs19 T C 2: 181,331,300 (GRCm39) E111G probably damaging Het
Rhbdf1 T C 11: 32,160,066 (GRCm39) N145S probably damaging Het
Rnf4 T A 5: 34,508,565 (GRCm39) probably null Het
Rpa1 T C 11: 75,205,737 (GRCm39) T207A probably damaging Het
Rufy4 A C 1: 74,168,556 (GRCm39) Q113P probably damaging Het
Sh3pxd2b T G 11: 32,372,985 (GRCm39) S717R probably benign Het
Sin3a A T 9: 57,014,824 (GRCm39) I682F probably damaging Het
Sipa1l2 A T 8: 126,195,212 (GRCm39) V842E possibly damaging Het
Slc5a4a A G 10: 75,983,431 (GRCm39) I23V unknown Het
Slitrk5 A G 14: 111,919,157 (GRCm39) N927S probably benign Het
Smc6 A G 12: 11,326,354 (GRCm39) K117R possibly damaging Het
Sod2 G A 17: 13,226,918 (GRCm39) probably benign Het
Stxbp1 A G 2: 32,686,030 (GRCm39) I567T possibly damaging Het
Tbkbp1 C A 11: 97,038,206 (GRCm39) L209F probably damaging Het
Tll1 G T 8: 64,491,620 (GRCm39) probably null Het
Tmem38b T C 4: 53,840,765 (GRCm39) L60S probably damaging Het
Trib1 G A 15: 59,526,324 (GRCm39) R298H probably damaging Het
Trim30b A G 7: 104,015,349 (GRCm39) V13A probably damaging Het
Trip11 G A 12: 101,856,001 (GRCm39) T425I probably benign Het
Ttn C A 2: 76,720,317 (GRCm39) probably benign Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Ush2a T A 1: 187,999,220 (GRCm39) S177T probably damaging Het
Usp40 A T 1: 87,906,281 (GRCm39) S651R probably benign Het
Vmn1r125 T C 7: 21,006,644 (GRCm39) S181P probably damaging Het
Vmn1r198 T A 13: 22,538,928 (GRCm39) V138D possibly damaging Het
Vmn1r56 A G 7: 5,199,317 (GRCm39) L100P probably damaging Het
Vmn2r32 T A 7: 7,467,209 (GRCm39) D773V probably benign Het
Vmn2r53 A C 7: 12,315,808 (GRCm39) H670Q probably benign Het
Vmn2r69 A T 7: 85,055,711 (GRCm39) I809N probably damaging Het
Wdr7 G A 18: 63,861,540 (GRCm39) G184D probably damaging Het
Wnk1 C T 6: 120,014,562 (GRCm39) G11D probably damaging Het
Zfp110 A C 7: 12,578,602 (GRCm39) E171A possibly damaging Het
Zkscan6 T C 11: 65,706,757 (GRCm39) V134A probably damaging 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
R6065:Grin2a UTSW 16 9,579,771 (GRCm39) missense possibly damaging 0.92
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'- TGGCCACAAATGTTTGCAG -3'
(R):5'- CATACTTCAACTTTGCAGGTAAAGC -3'

Posted On 2017-07-14