Incidental Mutation 'R1542:Grin2a'
ID 171867
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 039581-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.463) question?
Stock # R1542 (G1)
Quality Score 141
Status Not validated
Chromosome 16
Chromosomal Location 9385762-9813424 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9397067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 1007 (N1007Y)
Ref Sequence ENSEMBL: ENSMUSP00000142900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032331] [ENSMUST00000115835] [ENSMUST00000199708]
AlphaFold P35436
Predicted Effect probably damaging
Transcript: ENSMUST00000032331
AA Change: N1007Y

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032331
Gene: ENSMUSG00000059003
AA Change: N1007Y

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 damaging
Transcript: ENSMUST00000115835
AA Change: N1007Y

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111501
Gene: ENSMUSG00000059003
AA Change: N1007Y

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 damaging
Transcript: ENSMUST00000199708
AA Change: N1007Y

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142900
Gene: ENSMUSG00000059003
AA Change: N1007Y

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,208,055 (GRCm39) M208T possibly damaging Het
Acsbg2 T A 17: 57,156,791 (GRCm39) I416F probably damaging Het
Adam6b G A 12: 113,454,559 (GRCm39) D459N possibly damaging Het
Adprh A T 16: 38,266,286 (GRCm39) D285E probably damaging Het
Aggf1 A T 13: 95,507,450 (GRCm39) C112S probably benign Het
Als2cl T C 9: 110,723,102 (GRCm39) V602A probably benign Het
Angptl2 G T 2: 33,118,897 (GRCm39) V224F probably benign Het
Ap3b2 A T 7: 81,127,825 (GRCm39) probably null Het
Aqp2 A C 15: 99,481,723 (GRCm39) I206L probably benign Het
Asap2 A G 12: 21,315,998 (GRCm39) D930G probably damaging Het
Cacna1e T A 1: 154,353,525 (GRCm39) M682L probably benign Het
Ccdc18 A G 5: 108,360,054 (GRCm39) N1146S probably benign Het
Ccr4 G A 9: 114,321,073 (GRCm39) H331Y probably benign Het
Cd33 A G 7: 43,181,530 (GRCm39) L210P probably damaging Het
Cep85l T C 10: 53,177,680 (GRCm39) E351G probably damaging Het
Cntn6 C A 6: 104,825,061 (GRCm39) T867K probably damaging Het
Cpeb2 C T 5: 43,443,218 (GRCm39) R970C probably damaging Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Dscaml1 T A 9: 45,660,738 (GRCm39) I1693K possibly damaging Het
Ebf4 A T 2: 130,207,418 (GRCm39) M621L probably benign Het
Elp4 G T 2: 105,624,954 (GRCm39) T313N probably benign Het
Epas1 T A 17: 87,131,918 (GRCm39) I373N possibly damaging Het
Etnk1 A T 6: 143,126,367 (GRCm39) M71L probably benign Het
Fry C T 5: 150,328,431 (GRCm39) T1257I probably benign Het
Gm21834 A G 17: 58,048,946 (GRCm39) F90S possibly damaging Het
Gm8674 T A 13: 50,054,039 (GRCm39) noncoding transcript Het
Gna11 T C 10: 81,369,162 (GRCm39) T134A probably benign Het
Golga5 C T 12: 102,440,979 (GRCm39) S238F probably damaging Het
H3c6 A G 13: 23,746,338 (GRCm39) F68L probably damaging Het
Ifnar2 G A 16: 91,196,153 (GRCm39) V253M possibly damaging Het
Insl5 A T 4: 102,875,382 (GRCm39) S123T probably damaging Het
Itgb2 T C 10: 77,395,320 (GRCm39) S474P probably benign Het
Kcnb2 A G 1: 15,781,012 (GRCm39) H628R probably benign Het
L3mbtl2 G A 15: 81,566,352 (GRCm39) D392N probably null Het
Lrp1b G T 2: 41,013,724 (GRCm39) T1813K probably damaging Het
Map3k4 A G 17: 12,454,793 (GRCm39) L1399P probably damaging Het
Mbtps1 A C 8: 120,272,986 (GRCm39) probably null Het
Mettl25 A T 10: 105,661,981 (GRCm39) S330T probably benign Het
Mical2 T C 7: 111,908,675 (GRCm39) L211P probably damaging Het
Mmrn1 T A 6: 60,922,102 (GRCm39) S186R probably damaging Het
Mob3b C A 4: 35,084,046 (GRCm39) V48L possibly damaging Het
Napsa A T 7: 44,231,113 (GRCm39) H114L probably damaging Het
Nsmce4a A T 7: 130,147,623 (GRCm39) probably null Het
Nup62 A G 7: 44,479,353 (GRCm39) K456R possibly damaging Het
Nwd2 T A 5: 63,964,318 (GRCm39) W1301R probably damaging Het
Oprm1 G T 10: 6,738,960 (GRCm39) W29L probably damaging Het
Or10al2 A T 17: 37,983,142 (GRCm39) E76V probably damaging Het
Or1l4b T A 2: 37,036,978 (GRCm39) S251R probably damaging Het
Or2c1 T A 16: 3,657,696 (GRCm39) N286K probably damaging Het
Or5w17 A G 2: 87,583,662 (GRCm39) V225A probably damaging Het
Pals2 A G 6: 50,175,306 (GRCm39) Y539C probably damaging Het
Pcnt T G 10: 76,225,221 (GRCm39) N1761T probably benign Het
Pcnt C T 10: 76,237,220 (GRCm39) M1355I probably benign Het
Pde11a A T 2: 75,877,199 (GRCm39) S757T probably benign Het
Pde6a T A 18: 61,390,116 (GRCm39) I490N possibly damaging Het
Pgap1 A G 1: 54,531,249 (GRCm39) V742A probably benign Het
Pik3c2b T C 1: 133,017,772 (GRCm39) L915P probably damaging Het
Pkd1l1 A G 11: 8,824,179 (GRCm39) C1129R possibly damaging Het
Pkhd1l1 A T 15: 44,391,587 (GRCm39) H1551L probably benign Het
Plxnb2 C T 15: 89,050,124 (GRCm39) C491Y probably damaging Het
Ppt1 C A 4: 122,751,402 (GRCm39) H300N probably benign Het
Prpf3 T A 3: 95,743,782 (GRCm39) Q457L probably benign Het
Ranbp17 C T 11: 33,214,672 (GRCm39) V914I probably benign Het
Rasal2 T C 1: 157,003,421 (GRCm39) I413V possibly damaging Het
Rb1cc1 G A 1: 6,314,473 (GRCm39) V382I possibly damaging Het
Rere T A 4: 150,700,399 (GRCm39) F1125I probably damaging Het
Rprd2 A T 3: 95,672,988 (GRCm39) V805E possibly damaging Het
Septin10 T G 10: 59,002,428 (GRCm39) E162A probably damaging Het
Septin12 G T 16: 4,810,159 (GRCm39) D125E probably benign Het
Serpina6 A G 12: 103,620,732 (GRCm39) Y6H probably benign Het
Serpinb3c T C 1: 107,200,517 (GRCm39) M209V probably damaging Het
Slc2a7 A T 4: 150,252,928 (GRCm39) T523S probably damaging Het
Smdt1 T C 15: 82,230,376 (GRCm39) V31A possibly damaging Het
Snrnp48 T C 13: 38,404,680 (GRCm39) I245T probably damaging Het
Spink2 G A 5: 77,354,812 (GRCm39) T33I probably damaging Het
Sptan1 A G 2: 29,917,139 (GRCm39) T2204A probably damaging Het
Synj2 A G 17: 6,075,292 (GRCm39) D306G probably benign Het
Tas2r109 A G 6: 132,957,873 (GRCm39) I19T possibly damaging Het
Tbk1 C T 10: 121,395,840 (GRCm39) V418M probably benign Het
Tcerg1 A G 18: 42,686,495 (GRCm39) E684G probably damaging Het
Tenm2 T C 11: 36,191,047 (GRCm39) N308S probably damaging Het
Tfb2m A T 1: 179,365,426 (GRCm39) probably null Het
Tmc1 T A 19: 20,793,486 (GRCm39) L558F probably damaging Het
Tmprss5 T A 9: 49,020,434 (GRCm39) I80N possibly damaging Het
Trappc2l G A 8: 123,342,146 (GRCm39) V131M probably damaging Het
Trpm7 A C 2: 126,664,519 (GRCm39) Y953* probably null Het
Ttn T C 2: 76,583,859 (GRCm39) R22383G probably damaging Het
Ugt1a6b G A 1: 88,034,983 (GRCm39) G107D probably benign Het
Vmn1r197 A T 13: 22,512,520 (GRCm39) Y147F probably benign Het
Zfp507 A T 7: 35,494,226 (GRCm39) N272K possibly damaging Het
Zfp526 G A 7: 24,925,687 (GRCm39) E649K probably benign Het
Zswim6 G A 13: 107,863,769 (GRCm39) noncoding transcript 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
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'- CGTTCAACCTCACTACAGTCCTTGG -3'
(R):5'- GCAACATGCTAAAGCTTCTCCGCTC -3'

Sequencing Primer
(F):5'- GAGGCCATTGACCTTTTGAAGTTATC -3'
(R):5'- CAAAGAGGCTCACTTATTGTGGAC -3'
Posted On 2014-04-13