Incidental Mutation 'IGL01994:Grin2d'
ID 183616
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grin2d
Ensembl Gene ENSMUSG00000002771
Gene Name glutamate receptor, ionotropic, NMDA2D (epsilon 4)
Synonyms GluN2D, GluRepsilon4, NMDAR2D, NR2D
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.487) question?
Stock # IGL01994
Quality Score
Status
Chromosome 7
Chromosomal Location 45481307-45520708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45507396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 435 (E435G)
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: E435G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002848
Gene: ENSMUSG00000002771
AA Change: E435G

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: E435G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 A T 13: 12,305,563 (GRCm39) Y418N probably benign Het
Adam15 T C 3: 89,248,812 (GRCm39) probably benign Het
Adam32 C A 8: 25,392,812 (GRCm39) probably benign Het
Adamts12 T A 15: 11,345,680 (GRCm39) C1574S probably damaging Het
Adck1 T C 12: 88,397,926 (GRCm39) S187P possibly damaging Het
Atp13a3 A G 16: 30,156,336 (GRCm39) V949A possibly damaging Het
Atxn3 T C 12: 101,908,439 (GRCm39) T138A probably benign Het
Atxn7l2 C T 3: 108,110,859 (GRCm39) R559Q probably damaging Het
Bicra G T 7: 15,706,741 (GRCm39) S1233R possibly damaging Het
Cacybp G T 1: 160,034,206 (GRCm39) N101K probably damaging Het
Cops7b T C 1: 86,528,828 (GRCm39) L185P probably damaging Het
Cttnbp2 T C 6: 18,420,814 (GRCm39) D899G possibly damaging Het
Cyp4f37 C T 17: 32,844,150 (GRCm39) R85* probably null Het
Dnah3 T G 7: 119,550,437 (GRCm39) N3294T possibly damaging Het
Elmo1 T A 13: 20,526,634 (GRCm39) Y395N probably damaging Het
Fam234b T A 6: 135,202,203 (GRCm39) Y308* probably null Het
Fam43a A G 16: 30,419,481 (GRCm39) K22E probably damaging Het
Fcer2a T C 8: 3,738,302 (GRCm39) N123D possibly damaging Het
Gm11595 A G 11: 99,663,027 (GRCm39) C218R unknown Het
Gria4 T C 9: 4,537,726 (GRCm39) Y194C probably damaging Het
Hectd1 T C 12: 51,844,725 (GRCm39) E506G probably damaging Het
Htt G A 5: 34,989,948 (GRCm39) S1160N possibly damaging Het
Ift140 A G 17: 25,267,417 (GRCm39) E605G probably damaging Het
Il17re T C 6: 113,445,411 (GRCm39) V374A probably benign Het
Ippk A G 13: 49,612,093 (GRCm39) Q439R possibly damaging Het
Itgam G A 7: 127,700,899 (GRCm39) V530M probably damaging Het
Kirrel3 A G 9: 34,931,429 (GRCm39) H47R possibly damaging Het
Klk1b24 A T 7: 43,841,057 (GRCm39) I162F probably damaging Het
Lama1 A T 17: 68,059,434 (GRCm39) T606S probably benign Het
Lama2 C T 10: 27,343,199 (GRCm39) probably null Het
Lrp2 A G 2: 69,313,945 (GRCm39) I2262T probably benign Het
Mamdc4 A T 2: 25,458,546 (GRCm39) I317N possibly damaging Het
Mtmr3 G T 11: 4,437,938 (GRCm39) H839N probably benign Het
Ncr1 G T 7: 4,344,253 (GRCm39) V177F probably benign Het
Nop58 T C 1: 59,743,242 (GRCm39) S219P probably damaging Het
Nrg3 T C 14: 38,734,043 (GRCm39) Y281C probably damaging Het
Nsf A G 11: 103,819,608 (GRCm39) S54P probably damaging Het
Or56b6 A T 7: 104,925,153 (GRCm39) noncoding transcript Het
Or6k8-ps1 T A 1: 173,979,102 (GRCm39) S7T probably benign Het
Plxnc1 T C 10: 94,685,801 (GRCm39) K730R probably damaging Het
Polr2g A T 19: 8,771,740 (GRCm39) probably benign Het
Rps13 A G 7: 115,932,925 (GRCm39) probably benign Het
Scgb2b7 A G 7: 31,403,409 (GRCm39) I99T probably benign Het
Slc22a27 G T 19: 7,887,108 (GRCm39) H260Q possibly damaging Het
Spata18 G T 5: 73,814,944 (GRCm39) probably null Het
Tns2 A G 15: 102,019,814 (GRCm39) E560G possibly damaging Het
Trbv16 T C 6: 41,128,715 (GRCm39) probably benign Het
Ubr3 T A 2: 69,851,520 (GRCm39) I1829N probably damaging Het
Vcl C T 14: 21,053,311 (GRCm39) T442I probably damaging Het
Vmn2r102 T A 17: 19,880,731 (GRCm39) I24N probably benign Het
Vmn2r114 T C 17: 23,529,451 (GRCm39) D217G probably damaging Het
Vmn2r58 A G 7: 41,486,394 (GRCm39) Y834H probably damaging Het
Zdhhc8 G T 16: 18,045,636 (GRCm39) 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
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
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
Posted On 2014-05-07