Incidental Mutation 'IGL01952:Grin2d'
ID181087
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grin2d
Ensembl Gene ENSMUSG00000002771
Gene Nameglutamate receptor, ionotropic, NMDA2D (epsilon 4)
SynonymsNR2D, GluRepsilon4, NMDAR2D, GluN2D
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.554) question?
Stock #IGL01952
Quality Score
Status
Chromosome7
Chromosomal Location45831883-45878378 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 45862280 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 247 (R247L)
Ref Sequence ENSEMBL: ENSMUSP00000147663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002848] [ENSMUST00000211250] [ENSMUST00000211713]
Predicted Effect probably benign
Transcript: ENSMUST00000002848
AA Change: R247L

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000002848
Gene: ENSMUSG00000002771
AA Change: R247L

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: ENSMUST00000211250
Predicted Effect probably benign
Transcript: ENSMUST00000211713
AA Change: R247L

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astl T C 2: 127,342,478 probably null Het
Bod1l C T 5: 41,816,954 C2339Y possibly damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Celsr1 T A 15: 85,963,223 I1438F probably benign Het
Dbr1 T A 9: 99,582,412 N297K possibly damaging Het
Dmxl1 A G 18: 49,890,654 H1668R probably benign Het
Dnajb11 A G 16: 22,865,500 E91G probably damaging Het
Elmsan1 G A 12: 84,173,266 P305S probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Hacl1 C T 14: 31,641,122 probably benign Het
Hivep2 C A 10: 14,142,331 T1854K possibly damaging Het
Htr1d T C 4: 136,443,561 V367A probably benign Het
Ifi208 T C 1: 173,679,031 S127P possibly damaging Het
Ifngr2 C T 16: 91,559,988 P137S probably damaging Het
Lcn9 T C 2: 25,824,538 L138P probably damaging Het
Mdn1 T C 4: 32,723,657 V2531A possibly damaging Het
Meioc A T 11: 102,672,185 I70F possibly damaging Het
Mlph A C 1: 90,933,471 D276A probably benign Het
Myh1 T A 11: 67,220,392 probably null Het
Nlrp9a G A 7: 26,558,019 S265N probably benign Het
Ofcc1 G A 13: 40,280,861 A22V probably damaging Het
Olfr736 T A 14: 50,393,403 F216I probably benign Het
Pisd C A 5: 32,739,132 probably null Het
Prlr A G 15: 10,328,342 D301G possibly damaging Het
Ptk2 T C 15: 73,229,931 E810G probably damaging Het
Slco1b2 T G 6: 141,671,230 F430V probably benign Het
Supt6 T C 11: 78,225,760 K646R probably benign Het
Tmem260 C T 14: 48,472,476 A52V probably damaging Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Tulp1 G A 17: 28,356,424 T103M probably damaging Het
Vwa5b1 G A 4: 138,581,217 P770S probably benign Het
Wdr63 T C 3: 146,097,163 H91R probably damaging Het
Zfp639 A G 3: 32,515,347 Y18C probably damaging Het
Other mutations in Grin2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Grin2d APN 7 45853292 missense probably damaging 0.99
IGL01772:Grin2d APN 7 45858466 missense probably benign 0.00
IGL01994:Grin2d APN 7 45857972 missense probably damaging 1.00
IGL02161:Grin2d APN 7 45854422 missense possibly damaging 0.82
IGL03180:Grin2d APN 7 45853329 missense probably damaging 1.00
R1121:Grin2d UTSW 7 45854347 missense probably damaging 1.00
R1934:Grin2d UTSW 7 45856827 missense probably damaging 1.00
R2915:Grin2d UTSW 7 45833357 unclassified probably benign
R4162:Grin2d UTSW 7 45857618 missense probably damaging 0.98
R4753:Grin2d UTSW 7 45833906 missense probably damaging 0.98
R4781:Grin2d UTSW 7 45862481 missense probably damaging 1.00
R4785:Grin2d UTSW 7 45856781 missense probably damaging 0.96
R4820:Grin2d UTSW 7 45857939 missense probably damaging 1.00
R4877:Grin2d UTSW 7 45854615 missense probably damaging 1.00
R4979:Grin2d UTSW 7 45857933 missense probably benign 0.03
R5092:Grin2d UTSW 7 45854268 missense probably damaging 1.00
R6364:Grin2d UTSW 7 45858454 missense possibly damaging 0.54
R6565:Grin2d UTSW 7 45834755 missense probably damaging 1.00
R6747:Grin2d UTSW 7 45862268 missense probably damaging 0.99
R6816:Grin2d UTSW 7 45833682 unclassified probably benign
R7072:Grin2d UTSW 7 45857498 missense probably damaging 1.00
R7237:Grin2d UTSW 7 45866176 nonsense probably null
R7243:Grin2d UTSW 7 45866128 missense probably damaging 1.00
R7385:Grin2d UTSW 7 45857536 missense probably damaging 1.00
R7577:Grin2d UTSW 7 45862379 missense probably benign 0.01
R8100:Grin2d UTSW 7 45833747 missense unknown
R8179:Grin2d UTSW 7 45858028 nonsense probably null
Z1177:Grin2d UTSW 7 45833177 missense unknown
Posted On2014-05-07