Incidental Mutation 'R1121:Grin2d'
ID 95630
Institutional Source Beutler Lab
Gene Symbol Grin2d
Ensembl Gene ENSMUSG00000002771
Gene Name glutamate receptor, ionotropic, NMDA2D (epsilon 4)
Synonyms GluN2D, GluRepsilon4, NMDAR2D, NR2D
MMRRC Submission 039194-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.487) question?
Stock # R1121 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 45481307-45520708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 45503771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 655 (M655L)
Ref Sequence ENSEMBL: ENSMUSP00000147663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002848] [ENSMUST00000211713]
AlphaFold Q03391
Predicted Effect probably damaging
Transcript: ENSMUST00000002848
AA Change: M655L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002848
Gene: ENSMUSG00000002771
AA Change: M655L

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 33 47 N/A INTRINSIC
low complexity region 60 73 N/A INTRINSIC
Pfam:ANF_receptor 89 330 1.7e-12 PFAM
PBPe 428 823 4.11e-65 SMART
Lig_chan-Glu_bd 471 527 7.88e-18 SMART
transmembrane domain 843 862 N/A INTRINSIC
low complexity region 896 931 N/A INTRINSIC
low complexity region 932 943 N/A INTRINSIC
low complexity region 969 1001 N/A INTRINSIC
low complexity region 1011 1039 N/A INTRINSIC
low complexity region 1065 1091 N/A INTRINSIC
low complexity region 1095 1120 N/A INTRINSIC
low complexity region 1192 1247 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000211713
AA Change: M655L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D). [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced spontaneous activity and an elevated auditory brainstem response threshold. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l1 A T 6: 90,566,366 (GRCm39) I646L probably benign Het
Ankar G A 1: 72,690,822 (GRCm39) probably null Het
Ap3b2 T A 7: 81,113,943 (GRCm39) T815S unknown Het
Atosb T C 4: 43,034,947 (GRCm39) K317E probably damaging Het
Cops7a T C 6: 124,939,379 (GRCm39) D90G probably benign Het
Dpysl2 C T 14: 67,100,001 (GRCm39) M78I probably benign Het
Erc2 T C 14: 28,197,612 (GRCm39) probably benign Het
Fam120a A T 13: 49,063,913 (GRCm39) probably null Het
Fam98a C A 17: 75,845,529 (GRCm39) G406C unknown Het
G6pc3 G A 11: 102,080,768 (GRCm39) S6N possibly damaging Het
Hnrnpul1 G T 7: 25,440,332 (GRCm39) T308K possibly damaging Het
Ipp T A 4: 116,377,872 (GRCm39) N247K probably benign Het
Islr T C 9: 58,065,045 (GRCm39) N154S probably benign Het
Itk A G 11: 46,222,721 (GRCm39) Y577H possibly damaging Het
Micu1 C T 10: 59,624,804 (GRCm39) T282I possibly damaging Het
Or6d14 T G 6: 116,534,190 (GRCm39) V268G probably damaging Het
Pcdhb14 T A 18: 37,582,645 (GRCm39) Y584N probably damaging Het
Pnlip A G 19: 58,669,340 (GRCm39) probably null Het
Ppip5k2 A T 1: 97,684,585 (GRCm39) Y129N probably damaging Het
Prtg T G 9: 72,813,449 (GRCm39) H936Q probably benign Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Spef1l T A 7: 139,556,543 (GRCm39) D148V probably benign Het
Sptbn5 T A 2: 119,899,871 (GRCm39) probably null Het
Thnsl1 A G 2: 21,216,975 (GRCm39) D243G probably benign Het
Ugt2a3 A T 5: 87,475,548 (GRCm39) D361E probably damaging Het
Uhrf1 T A 17: 56,619,917 (GRCm39) M276K probably benign Het
Vmn1r26 T C 6: 57,985,647 (GRCm39) T181A probably benign Het
Vwa7 T A 17: 35,236,770 (GRCm39) N112K probably damaging Het
Xkr7 C T 2: 152,896,343 (GRCm39) T399I probably damaging Het
Zpld2 T C 4: 133,930,248 (GRCm39) D19G probably benign Het
Other mutations in Grin2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Grin2d APN 7 45,502,716 (GRCm39) missense probably damaging 0.99
IGL01772:Grin2d APN 7 45,507,890 (GRCm39) missense probably benign 0.00
IGL01952:Grin2d APN 7 45,511,704 (GRCm39) missense probably benign 0.23
IGL01994:Grin2d APN 7 45,507,396 (GRCm39) missense probably damaging 1.00
IGL02161:Grin2d APN 7 45,503,846 (GRCm39) missense possibly damaging 0.82
IGL03180:Grin2d APN 7 45,502,753 (GRCm39) missense probably damaging 1.00
R1934:Grin2d UTSW 7 45,506,251 (GRCm39) missense probably damaging 1.00
R2915:Grin2d UTSW 7 45,482,781 (GRCm39) unclassified probably benign
R4162:Grin2d UTSW 7 45,507,042 (GRCm39) missense probably damaging 0.98
R4753:Grin2d UTSW 7 45,483,330 (GRCm39) missense probably damaging 0.98
R4781:Grin2d UTSW 7 45,511,905 (GRCm39) missense probably damaging 1.00
R4785:Grin2d UTSW 7 45,506,205 (GRCm39) missense probably damaging 0.96
R4820:Grin2d UTSW 7 45,507,363 (GRCm39) missense probably damaging 1.00
R4877:Grin2d UTSW 7 45,504,039 (GRCm39) missense probably damaging 1.00
R4979:Grin2d UTSW 7 45,507,357 (GRCm39) missense probably benign 0.03
R5092:Grin2d UTSW 7 45,503,692 (GRCm39) missense probably damaging 1.00
R6364:Grin2d UTSW 7 45,507,878 (GRCm39) missense possibly damaging 0.54
R6565:Grin2d UTSW 7 45,484,179 (GRCm39) missense probably damaging 1.00
R6747:Grin2d UTSW 7 45,511,692 (GRCm39) missense probably damaging 0.99
R6816:Grin2d UTSW 7 45,483,106 (GRCm39) unclassified probably benign
R7072:Grin2d UTSW 7 45,506,922 (GRCm39) missense probably damaging 1.00
R7237:Grin2d UTSW 7 45,515,600 (GRCm39) nonsense probably null
R7243:Grin2d UTSW 7 45,515,552 (GRCm39) missense probably damaging 1.00
R7385:Grin2d UTSW 7 45,506,960 (GRCm39) missense probably damaging 1.00
R7577:Grin2d UTSW 7 45,511,803 (GRCm39) missense probably benign 0.01
R8100:Grin2d UTSW 7 45,483,171 (GRCm39) missense unknown
R8179:Grin2d UTSW 7 45,507,452 (GRCm39) nonsense probably null
R8877:Grin2d UTSW 7 45,503,699 (GRCm39) missense probably damaging 1.00
R8988:Grin2d UTSW 7 45,483,425 (GRCm39) nonsense probably null
R9179:Grin2d UTSW 7 45,506,176 (GRCm39) missense probably damaging 1.00
R9643:Grin2d UTSW 7 45,506,948 (GRCm39) missense possibly damaging 0.62
Z1177:Grin2d UTSW 7 45,482,601 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AAGTTACAAGCCAGCTCAGCCTGC -3'
(R):5'- GATGATGTTCGTCATGTGCCTCACC -3'

Sequencing Primer
(F):5'- TGCCCCCTGTACACACC -3'
(R):5'- CTGTGGGCTATAACCGAAGC -3'
Posted On 2014-01-05