Incidental Mutation 'R4753:Grin2d'
ID 357733
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 041971-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.487) question?
Stock # R4753 (G1)
Quality Score 121
Status Validated
Chromosome 7
Chromosomal Location 45481307-45520708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 45483330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 949 (P949Q)
Ref Sequence ENSEMBL: ENSMUSP00000147663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002848] [ENSMUST00000107723] [ENSMUST00000131384] [ENSMUST00000209484] [ENSMUST00000211713] [ENSMUST00000211265]
AlphaFold Q03391
Predicted Effect probably damaging
Transcript: ENSMUST00000002848
AA Change: P949Q

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002848
Gene: ENSMUSG00000002771
AA Change: P949Q

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 noncoding transcript
Transcript: ENSMUST00000209250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209301
Predicted Effect probably benign
Transcript: ENSMUST00000209484
Predicted Effect probably damaging
Transcript: ENSMUST00000211713
AA Change: P949Q

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210177
Predicted Effect probably benign
Transcript: ENSMUST00000211265
Meta Mutation Damage Score 0.1012 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (57/58)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd55 T A 13: 112,500,009 (GRCm39) D257E probably benign Het
Arhgef18 T C 8: 3,494,938 (GRCm39) V399A probably damaging Het
Atp8b5 C T 4: 43,372,710 (GRCm39) P1117S probably damaging Het
Cd48 A G 1: 171,527,156 (GRCm39) Q194R probably damaging Het
Cdk13 G A 13: 17,937,833 (GRCm39) R737C probably damaging Het
Clasrp A T 7: 19,328,865 (GRCm39) I89N probably damaging Het
Clrn1 G T 3: 58,792,318 (GRCm39) N48K probably damaging Het
Cntrl T A 2: 35,043,451 (GRCm39) V1313E possibly damaging Het
Cyld T A 8: 89,471,444 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dtl T C 1: 191,301,815 (GRCm39) T81A probably damaging Het
Dus1l C T 11: 120,682,901 (GRCm39) E299K probably benign Het
E130114P18Rik A T 4: 97,463,129 (GRCm39) D14E possibly damaging Het
Fam83g C A 11: 61,586,095 (GRCm39) H228N probably damaging Het
Fhod3 A T 18: 25,223,382 (GRCm39) K909N possibly damaging Het
Fign T A 2: 63,809,363 (GRCm39) I636L probably benign Het
Foxm1 A G 6: 128,349,519 (GRCm39) E346G probably null Het
Gcc2 T C 10: 58,126,204 (GRCm39) Y1271H probably benign Het
Gcn1 T C 5: 115,754,537 (GRCm39) V2379A probably benign Het
Ighv1-43 C A 12: 114,909,762 (GRCm39) M53I probably benign Het
Itgad A G 7: 127,822,875 (GRCm39) *97W probably null Het
Jade1 C T 3: 41,551,106 (GRCm39) R2* probably null Het
Lama3 G T 18: 12,615,141 (GRCm39) C1355F probably damaging Het
Map3k13 T C 16: 21,710,752 (GRCm39) S12P probably benign Het
Masp2 A G 4: 148,696,608 (GRCm39) T402A probably benign Het
Mill1 A C 7: 17,996,472 (GRCm39) K96T probably benign Het
Muc19 T G 15: 91,761,955 (GRCm39) noncoding transcript Het
Muc5b C A 7: 141,410,590 (GRCm39) T1321N unknown Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or1ad1 T C 11: 50,875,978 (GRCm39) V150A probably benign Het
Or1e35 T A 11: 73,797,677 (GRCm39) I214F probably damaging Het
Pdgfra C T 5: 75,342,185 (GRCm39) P669S probably damaging Het
Procr A G 2: 155,595,384 (GRCm39) N63D probably damaging Het
Prrc2c A G 1: 162,518,799 (GRCm39) S2136P probably damaging Het
Rab11fip1 T C 8: 27,642,769 (GRCm39) M677V probably benign Het
Rad52 T A 6: 119,889,946 (GRCm39) probably benign Het
Rasa1 A G 13: 85,436,509 (GRCm39) probably null Het
Rogdi T C 16: 4,828,363 (GRCm39) T189A probably damaging Het
Rph3al G A 11: 75,799,845 (GRCm39) T38M probably damaging Het
Rps6ka2 T A 17: 7,566,707 (GRCm39) V655E possibly damaging Het
Sik3 T C 9: 46,109,512 (GRCm39) F499L probably damaging Het
Skint4 A G 4: 112,003,728 (GRCm39) N387S probably benign Het
Slc6a12 C T 6: 121,333,862 (GRCm39) probably benign Het
Stk36 A G 1: 74,665,255 (GRCm39) T667A probably benign Het
Svep1 T C 4: 58,053,212 (GRCm39) I3378V probably benign Het
Thnsl1 C T 2: 21,218,175 (GRCm39) T122I probably damaging Het
Timeless G A 10: 128,075,889 (GRCm39) probably benign Het
Tnxb G A 17: 34,914,909 (GRCm39) V1966I possibly damaging Het
Tril A G 6: 53,796,698 (GRCm39) F175L probably damaging Het
Vav1 A G 17: 57,613,140 (GRCm39) Y604C probably damaging Het
Zfp423 T A 8: 88,508,074 (GRCm39) M736L probably benign Het
Zscan10 A C 17: 23,826,208 (GRCm39) E123D 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
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'- GCTTGTCAACCGACCAGTAG -3'
(R):5'- GGTATGTACAGCTGCTGCAG -3'

Sequencing Primer
(F):5'- TCTCGTCCTCGAAAGCCAG -3'
(R):5'- CTGCTGCAGCGCTGAGG -3'
Posted On 2015-11-11