Incidental Mutation 'R6816:Grin2d'
ID 537332
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 044928-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.487) question?
Stock # R6816 (G1)
Quality Score 103.008
Status Validated
Chromosome 7
Chromosomal Location 45481307-45520708 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 45483106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002848] [ENSMUST00000107723] [ENSMUST00000131384] [ENSMUST00000209484] [ENSMUST00000211265] [ENSMUST00000211713]
AlphaFold Q03391
Predicted Effect unknown
Transcript: ENSMUST00000002848
AA Change: S1024P
SMART Domains Protein: ENSMUSP00000002848
Gene: ENSMUSG00000002771
AA Change: S1024P

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 benign
Transcript: ENSMUST00000107723
SMART Domains Protein: ENSMUSP00000103351
Gene: ENSMUSG00000053801

DomainStartEndE-ValueType
Pfam:CAF1C_H4-bd 42 113 8.6e-18 PFAM
low complexity region 123 136 N/A INTRINSIC
Blast:WD40 138 179 1e-18 BLAST
WD40 203 243 1.58e-2 SMART
WD40 249 290 5.47e-6 SMART
WD40 297 336 2.22e-6 SMART
WD40 342 382 2.59e-7 SMART
Blast:WD40 404 442 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000131384
SMART Domains Protein: ENSMUSP00000116252
Gene: ENSMUSG00000053801

DomainStartEndE-ValueType
Pfam:CAF1C_H4-bd 44 112 2.7e-15 PFAM
low complexity region 123 136 N/A INTRINSIC
Blast:WD40 138 179 1e-18 BLAST
WD40 203 243 1.58e-2 SMART
WD40 249 290 5.47e-6 SMART
WD40 297 336 2.22e-6 SMART
WD40 342 382 2.59e-7 SMART
Blast:WD40 404 442 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000209484
Predicted Effect probably benign
Transcript: ENSMUST00000211265
Predicted Effect unknown
Transcript: ENSMUST00000211713
AA Change: S1024P
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 96% (49/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg5 A G 8: 95,668,311 (GRCm39) T458A probably damaging Het
Ajm1 C CTCTA 2: 25,469,733 (GRCm39) probably null Het
Ankrd36 T G 11: 5,593,765 (GRCm39) F457V possibly damaging Het
Cep152 T C 2: 125,436,947 (GRCm39) E531G probably damaging Het
Dpf1 A C 7: 29,011,087 (GRCm39) D162A possibly damaging Het
E2f8 A T 7: 48,525,331 (GRCm39) Y214N possibly damaging Het
Fer1l5 A T 1: 36,445,591 (GRCm39) Y786F possibly damaging Het
Fhod1 G T 8: 106,057,176 (GRCm39) Q933K probably benign Het
Gdap2 T C 3: 100,099,021 (GRCm39) probably null Het
H2bc22 C T 13: 21,971,947 (GRCm39) S88L probably benign Het
Hgs T A 11: 120,362,397 (GRCm39) V112D probably damaging Het
Igf2r A T 17: 12,932,969 (GRCm39) V851E probably damaging Het
Igfn1 T A 1: 135,887,466 (GRCm39) T2533S probably benign Het
Iqch C T 9: 63,388,041 (GRCm39) V750I probably benign Het
Itih2 A G 2: 10,110,517 (GRCm39) Y525H probably damaging Het
Kcnu1 C T 8: 26,427,762 (GRCm39) Q360* probably null Het
Klk1b26 A G 7: 43,666,292 (GRCm39) N245S probably benign Het
Kmt2c T C 5: 25,610,530 (GRCm39) probably null Het
Lhpp T C 7: 132,235,762 (GRCm39) S116P probably benign Het
Madcam1 A G 10: 79,501,274 (GRCm39) D113G probably damaging Het
Magi3 A T 3: 103,997,227 (GRCm39) probably null Het
Map3k9 A G 12: 81,769,028 (GRCm39) S1007P possibly damaging Het
Mkrn2 C T 6: 115,588,689 (GRCm39) P144L probably damaging Het
Mon1a T C 9: 107,777,609 (GRCm39) S171P probably damaging Het
Nrarp T C 2: 25,071,319 (GRCm39) L66P probably damaging Het
P2ry1 T A 3: 60,911,253 (GRCm39) F131I probably benign Het
Pdzk1 A G 3: 96,761,886 (GRCm39) Q166R probably benign Het
Pigt G T 2: 164,343,052 (GRCm39) V249F probably damaging Het
Ppp1r16b G T 2: 158,603,595 (GRCm39) V407L probably benign Het
Pramel58 A T 5: 94,831,773 (GRCm39) Q260L possibly damaging Het
Rab6a G T 7: 100,279,080 (GRCm39) E73D probably damaging Het
Ralb C A 1: 119,405,712 (GRCm39) G33* probably null Het
Sema3b T A 9: 107,477,549 (GRCm39) M491L probably benign Het
Sema3c A C 5: 17,875,463 (GRCm39) D40A probably benign Het
Slc22a1 T C 17: 12,871,370 (GRCm39) N464D possibly damaging Het
Spire2 T A 8: 124,086,152 (GRCm39) S295T probably benign Het
Stat3 T G 11: 100,802,093 (GRCm39) Q32P probably damaging Het
Sulf2 T C 2: 165,924,674 (GRCm39) T471A probably benign Het
Sult2b1 A G 7: 45,383,102 (GRCm39) W227R probably damaging Het
Syt2 T A 1: 134,673,538 (GRCm39) I294N probably damaging Het
Taar8b A T 10: 23,968,079 (GRCm39) F38L probably benign Het
Tbl2 T A 5: 135,188,069 (GRCm39) probably null Het
Tex48 G A 4: 63,530,192 (GRCm39) S9L probably damaging Het
Tmprss2 A T 16: 97,369,667 (GRCm39) M369K possibly damaging Het
Trip12 A T 1: 84,771,435 (GRCm39) S280T probably damaging Het
Tspoap1 T C 11: 87,656,491 (GRCm39) V263A probably benign Het
Vmn2r74 T A 7: 85,610,621 (GRCm39) R24* probably null Het
Wdr35 G A 12: 9,077,724 (GRCm39) probably null Het
Zfp202 A G 9: 40,123,109 (GRCm39) R624G probably damaging 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
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
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'- GCTTGTCAACCGACCAGTAG -3'
(R):5'- GGTATGTACAGCTGCTGCAG -3'

Sequencing Primer
(F):5'- AGGCTCTCCGAATCCTCG -3'
(R):5'- GGCTTCCACCGATACTACG -3'
Posted On 2018-10-18