Incidental Mutation 'R4979:Grin2d'
ID 384669
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 042574-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.487) question?
Stock # R4979 (G1)
Quality Score 211
Status Validated
Chromosome 7
Chromosomal Location 45481307-45520708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45507357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 448 (I448T)
Ref Sequence ENSEMBL: ENSMUSP00000147663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002848] [ENSMUST00000211713]
AlphaFold Q03391
Predicted Effect probably benign
Transcript: ENSMUST00000002848
AA Change: I448T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000002848
Gene: ENSMUSG00000002771
AA Change: I448T

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: ENSMUST00000211713
AA Change: I448T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Meta Mutation Damage Score 0.0635 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.4%
Validation Efficiency 99% (79/80)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G A 17: 9,220,643 (GRCm39) E381K probably damaging Het
Abca1 T C 4: 53,085,092 (GRCm39) probably null Het
Abca7 C T 10: 79,840,617 (GRCm39) Q870* probably null Het
Ambp C T 4: 63,070,888 (GRCm39) V64M probably benign Het
Ank1 T C 8: 23,622,212 (GRCm39) V1542A probably damaging Het
Anln T C 9: 22,287,797 (GRCm39) Y168C probably benign Het
Apoa4 T A 9: 46,152,803 (GRCm39) N29K probably benign Het
Arfgef1 T C 1: 10,283,334 (GRCm39) T192A probably damaging Het
Atad2b G T 12: 5,084,513 (GRCm39) D1420Y probably damaging Het
Baiap3 A G 17: 25,465,336 (GRCm39) W648R possibly damaging Het
Bank1 A G 3: 135,960,662 (GRCm39) L198P probably damaging Het
Bicd2 A G 13: 49,532,940 (GRCm39) K509E possibly damaging Het
Cacna1e T C 1: 154,289,739 (GRCm39) D1821G probably damaging Het
Ccdc80 G A 16: 44,936,650 (GRCm39) V692M possibly damaging Het
Ccdc88a C T 11: 29,432,133 (GRCm39) Q308* probably null Het
Ccl8 T C 11: 82,006,973 (GRCm39) V62A probably damaging Het
Clspn C A 4: 126,472,179 (GRCm39) P951Q probably damaging Het
Cngb1 T A 8: 95,985,785 (GRCm39) I858F probably damaging Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
Ctc1 C T 11: 68,924,328 (GRCm39) A960V probably damaging Het
Ctnnd2 A G 15: 31,009,221 (GRCm39) E1106G probably damaging Het
Dido1 C T 2: 180,302,606 (GRCm39) R1766H probably damaging Het
Dipk1a A T 5: 108,057,400 (GRCm39) L386* probably null Het
Dnajc13 G T 9: 104,063,922 (GRCm39) N1341K probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
E2f8 G A 7: 48,524,918 (GRCm39) probably benign Het
Entpd8 A G 2: 24,972,967 (GRCm39) D91G possibly damaging Het
Fars2 A G 13: 36,388,564 (GRCm39) R18G possibly damaging Het
Fcgbp A G 7: 27,816,995 (GRCm39) S2486G probably benign Het
Fibin C T 2: 110,192,963 (GRCm39) D60N possibly damaging Het
Fpgs A G 2: 32,577,379 (GRCm39) probably benign Het
Galnt15 A G 14: 31,765,247 (GRCm39) D303G probably damaging Het
Gli3 C A 13: 15,899,049 (GRCm39) T812K possibly damaging Het
Gpbar1 G C 1: 74,318,404 (GRCm39) A216P probably benign Het
Il21 C A 3: 37,286,653 (GRCm39) S21I probably damaging Het
Iqce G T 5: 140,677,376 (GRCm39) D148E probably damaging Het
Iqcg T A 16: 32,839,884 (GRCm39) E354V probably damaging Het
Iws1 T C 18: 32,226,320 (GRCm39) probably benign Het
Ly75 C T 2: 60,206,238 (GRCm39) G144S probably damaging Het
Marco C A 1: 120,421,954 (GRCm39) M83I probably benign Het
Mettl6 A T 14: 31,201,752 (GRCm39) L185H probably damaging Het
Mppe1 C T 18: 67,362,773 (GRCm39) G154D probably damaging Het
Mrpl42 T C 10: 95,326,237 (GRCm39) E85G probably benign Het
Neb A G 2: 52,079,921 (GRCm39) V5518A probably damaging Het
Or12d13 A T 17: 37,647,759 (GRCm39) F121L probably benign Het
Or52p1 T A 7: 104,267,812 (GRCm39) F317I probably null Het
Or5b105 A T 19: 13,080,053 (GRCm39) I199N probably damaging Het
Or7a42 T A 10: 78,791,766 (GRCm39) C242* probably null Het
Or7d10 G T 9: 19,831,655 (GRCm39) S50I probably benign Het
Perm1 A G 4: 156,302,034 (GRCm39) T193A probably benign Het
Prkd2 T A 7: 16,582,652 (GRCm39) C172S probably damaging Het
Prr23a3 T A 9: 98,747,431 (GRCm39) D128E possibly damaging Het
Prss28 A G 17: 25,528,711 (GRCm39) Y51C probably damaging Het
Psmb1 A T 17: 15,696,451 (GRCm39) M85K probably benign Het
Rae1 T A 2: 172,854,401 (GRCm39) probably benign Het
Rasal1 A G 5: 120,816,741 (GRCm39) D759G probably benign Het
Rcvrn G A 11: 67,586,246 (GRCm39) G2R probably damaging Het
Robo3 C T 9: 37,334,640 (GRCm39) A597T probably damaging Het
Rsf1 GCG GCGACGGCGCCG 7: 97,229,114 (GRCm39) probably benign Homo
Sdcbp T A 4: 6,378,980 (GRCm39) Y22* probably null Het
Sin3a T C 9: 57,025,360 (GRCm39) F1069L probably damaging Het
Slitrk3 C T 3: 72,957,129 (GRCm39) V548I possibly damaging Het
Tbc1d22a A G 15: 86,275,287 (GRCm39) H403R probably damaging Het
Tbr1 G T 2: 61,635,593 (GRCm39) probably null Het
Tiam2 T A 17: 3,555,985 (GRCm39) D65E probably damaging Het
Tpcn2 A G 7: 144,813,833 (GRCm39) S488P probably benign Het
Trav9-2 T C 14: 53,828,695 (GRCm39) S22P probably damaging Het
Trim34a T A 7: 103,897,069 (GRCm39) N44K probably benign Het
Unc79 C G 12: 103,078,691 (GRCm39) P1619A probably benign Het
Usp22 A T 11: 61,048,042 (GRCm39) V426E probably damaging Het
Vhl A T 6: 113,601,159 (GRCm39) M20L unknown Het
Vmn1r215 G A 13: 23,260,064 (GRCm39) A35T probably benign Het
Vmn1r222 G A 13: 23,416,602 (GRCm39) L204F possibly damaging Het
Zfp871 A T 17: 32,994,829 (GRCm39) H115Q probably damaging Het
Zpr1 T A 9: 46,189,640 (GRCm39) F340L 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
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
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'- TAAGAATTTCTTGGCTTCCCCG -3'
(R):5'- AGGACACTCTGGAATGCTGC -3'

Sequencing Primer
(F):5'- TTCCCCGCCAAGTCACG -3'
(R):5'- GTGCTCGGCAGTATGACTC -3'
Posted On 2016-05-10