Incidental Mutation 'R4162:Grin2d'
ID 321560
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 041005-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.487) question?
Stock # R4162 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 45481307-45520708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45507042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 478 (K478E)
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: K478E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002848
Gene: ENSMUSG00000002771
AA Change: K478E

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: K478E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.1438 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 93% (38/41)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 T A 10: 83,342,518 (GRCm39) I431F possibly damaging Het
Atrn A G 2: 130,836,148 (GRCm39) probably benign Het
Cep57 C T 9: 13,723,929 (GRCm39) probably null Het
Cgas G A 9: 78,341,686 (GRCm39) R364C probably damaging Het
Cybc1 T C 11: 121,115,492 (GRCm39) D109G probably damaging Het
Defb41 C T 1: 18,330,821 (GRCm39) C42Y probably damaging Het
Dnah3 C T 7: 119,522,061 (GRCm39) G4033D probably damaging Het
Flnb A T 14: 7,915,374 (GRCm38) I1502F possibly damaging Het
Gli3 G T 13: 15,899,700 (GRCm39) S1029I possibly damaging Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Gm5592 A G 7: 40,867,202 (GRCm39) probably benign Het
Il18 T C 9: 50,490,712 (GRCm39) S116P probably damaging Het
Itsn1 C A 16: 91,649,790 (GRCm39) P155T probably benign Het
Kdm5b C T 1: 134,552,899 (GRCm39) P1292S probably benign Het
Mef2b T C 8: 70,618,961 (GRCm39) F181S probably damaging Het
Mfn1 T C 3: 32,617,147 (GRCm39) probably benign Het
Mfsd12 A G 10: 81,196,931 (GRCm39) probably null Het
Myo10 T A 15: 25,726,501 (GRCm39) probably null Het
Nrxn2 G A 19: 6,582,173 (GRCm39) V660I probably damaging Het
Nsun4 G T 4: 115,891,391 (GRCm39) Y329* probably null Het
Pank4 T C 4: 155,064,051 (GRCm39) probably null Het
Plcb2 T A 2: 118,540,068 (GRCm39) E1075V probably damaging Het
Prep G T 10: 44,943,458 (GRCm39) R11L possibly damaging Het
Prkcd A G 14: 30,323,154 (GRCm39) F461L probably damaging Het
Saxo5 C T 8: 3,529,067 (GRCm39) P214L probably damaging Het
Snx21 T C 2: 164,628,770 (GRCm39) Y138H probably damaging Het
Spout1 C T 2: 30,067,589 (GRCm39) probably benign Het
Tex15 T C 8: 34,071,586 (GRCm39) S2378P probably damaging Het
Thap12 C T 7: 98,359,285 (GRCm39) probably benign Het
Trav3-1 T C 14: 52,818,496 (GRCm39) Y57H probably damaging Het
Ttc39c A G 18: 12,857,994 (GRCm39) probably null Het
Tubgcp3 C T 8: 12,689,547 (GRCm39) R573Q possibly damaging Het
Ush2a A C 1: 188,475,877 (GRCm39) K2938T probably benign Het
Vasp A T 7: 18,993,397 (GRCm39) probably null Het
Zfhx3 C A 8: 109,683,619 (GRCm39) T3686K unknown 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
R1121:Grin2d UTSW 7 45,503,771 (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
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'- AAGATTCCTCTCCCACAGGTTCTG -3'
(R):5'- TCTTTCCCCTGAAGCACAGC -3'

Sequencing Primer
(F):5'- ACAGGTTCTGTCCCGCC -3'
(R):5'- CTGAAGCACAGCGGGCTAG -3'
Posted On 2015-06-12