Incidental Mutation 'IGL03180:Grin2d'
ID412188
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: 0.621) question?
Stock #IGL03180
Quality Score
Status
Chromosome7
Chromosomal Location45831883-45878378 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 45853329 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Methionine at position 706 (K706M)
Ref Sequence ENSEMBL: ENSMUSP00000147663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002848] [ENSMUST00000211713]
Predicted Effect probably damaging
Transcript: ENSMUST00000002848
AA Change: K706M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000002848
Gene: ENSMUSG00000002771
AA Change: K706M

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: K706M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,175,635 Y321H probably benign Het
Adam28 T A 14: 68,637,434 I265L probably damaging Het
Adcy8 T C 15: 64,783,950 D560G possibly damaging Het
Aff3 A G 1: 38,535,662 M79T probably damaging Het
Ahctf1 A G 1: 179,775,330 probably null Het
Aspn C T 13: 49,563,515 R256W probably damaging Het
Birc6 T C 17: 74,659,231 V4051A probably benign Het
Cfap46 G A 7: 139,603,252 L2584F unknown Het
Chdh T A 14: 30,034,602 probably null Het
Clasp1 A G 1: 118,505,525 T245A probably benign Het
Clec4a1 G A 6: 122,924,818 V70I probably benign Het
Cpt2 A T 4: 107,906,960 S536T probably damaging Het
Dnah9 A T 11: 65,886,639 H3694Q probably damaging Het
Dntt T A 19: 41,029,551 F38Y probably benign Het
Eif4ebp2 T C 10: 61,433,810 E117G probably damaging Het
Eif5b T C 1: 38,036,269 I609T probably damaging Het
Esam G A 9: 37,534,570 G135S probably damaging Het
Fut7 C A 2: 25,425,453 A241D possibly damaging Het
Grip2 A G 6: 91,785,761 probably benign Het
Gtf2ird2 A G 5: 134,191,248 T22A probably damaging Het
Hadh T C 3: 131,271,884 I42V probably benign Het
Iqsec3 T A 6: 121,413,508 probably benign Het
Izumo3 G A 4: 92,146,287 probably benign Het
Ldlrad1 G T 4: 107,217,835 C193F probably damaging Het
Lgals4 G A 7: 28,837,628 G118R probably damaging Het
Map4k1 A C 7: 28,988,085 E136A probably damaging Het
Mapk8ip1 G T 2: 92,386,912 P346Q possibly damaging Het
Mkl2 A G 16: 13,398,332 K303E probably damaging Het
Nlrp14 T A 7: 107,182,626 H343Q probably benign Het
Ogg1 T G 6: 113,333,494 probably null Het
Olfr1023 A T 2: 85,887,396 M199L probably benign Het
Olfr361 C T 2: 37,085,710 V13M possibly damaging Het
Pafah1b1 A T 11: 74,683,518 C281S possibly damaging Het
Papss1 C T 3: 131,607,382 R386W probably damaging Het
Pex5 A G 6: 124,413,563 probably benign Het
Pibf1 C A 14: 99,133,344 Q261K probably benign Het
Plcb3 T C 19: 6,956,153 S935G probably benign Het
Polg A G 7: 79,451,853 probably benign Het
Ptpdc1 G A 13: 48,586,077 T626I probably damaging Het
Rab34 A T 11: 78,190,318 Y87F probably damaging Het
Rsrc1 T G 3: 67,082,543 probably benign Het
Ryr2 T C 13: 11,568,563 N4735S possibly damaging Het
Scn7a T C 2: 66,676,234 D1437G possibly damaging Het
Sdk1 A G 5: 142,085,742 E1229G probably damaging Het
Sez6l A T 5: 112,436,285 V806D probably damaging Het
Sgsm2 A C 11: 74,868,575 probably null Het
Sla A G 15: 66,789,720 I121T probably benign Het
Son T C 16: 91,657,008 L881S probably damaging Het
Srms A G 2: 181,212,780 probably benign Het
Stoml1 T C 9: 58,260,917 S304P probably damaging Het
Stt3a T C 9: 36,759,256 D73G probably damaging Het
Tmem206 G T 1: 191,338,892 V82F probably damaging Het
Tpp1 T C 7: 105,746,649 T558A probably benign Het
Trp53i13 T C 11: 77,512,702 probably benign Het
Vmn2r77 A G 7: 86,801,635 Y243C possibly damaging Het
Vwde T C 6: 13,205,765 D261G probably damaging Het
Wdr60 T C 12: 116,218,865 S706G probably benign Het
Zfpm2 A G 15: 41,101,394 K293R 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
IGL01952:Grin2d APN 7 45862280 missense probably benign 0.23
IGL01994:Grin2d APN 7 45857972 missense probably damaging 1.00
IGL02161:Grin2d APN 7 45854422 missense possibly damaging 0.82
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
Posted On2016-08-02