Incidental Mutation 'R1934:Grin2d'
ID 215668
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 039952-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.487) question?
Stock # R1934 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 45481307-45520708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45506251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 547 (V547M)
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: V547M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002848
Gene: ENSMUSG00000002771
AA Change: V547M

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: V547M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,626,792 (GRCm39) L548P probably damaging Het
Abca6 A G 11: 110,100,909 (GRCm39) probably null Het
Abcb5 A G 12: 118,871,235 (GRCm39) probably null Het
Acacb G A 5: 114,336,343 (GRCm39) A686T probably benign Het
Acot6 T C 12: 84,153,367 (GRCm39) V203A probably benign Het
Adam25 A T 8: 41,207,922 (GRCm39) Y396F probably benign Het
Adamts9 A G 6: 92,920,102 (GRCm39) L12P possibly damaging Het
Adamtsl2 A T 2: 26,979,605 (GRCm39) D258V probably damaging Het
Aox4 G A 1: 58,285,095 (GRCm39) V616I probably benign Het
Ap1m1 A G 8: 73,009,637 (GRCm39) I382V probably damaging Het
Arhgef2 G A 3: 88,537,098 (GRCm39) R8Q probably damaging Het
Arhgef37 T G 18: 61,657,014 (GRCm39) E17A probably benign Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Arih1 T C 9: 59,302,215 (GRCm39) D431G probably damaging Het
Astn2 C T 4: 65,353,426 (GRCm39) V1115M probably damaging Het
Atg7 T A 6: 114,678,196 (GRCm39) M280K probably damaging Het
Birc2 T C 9: 7,854,500 (GRCm39) T397A possibly damaging Het
Ccdc110 A G 8: 46,396,287 (GRCm39) N726S probably damaging Het
Cdadc1 A T 14: 59,827,309 (GRCm39) S121T possibly damaging Het
Cdh16 A G 8: 105,344,595 (GRCm39) V7A possibly damaging Het
Cenpb A G 2: 131,021,184 (GRCm39) S205P probably benign Het
Chsy1 T C 7: 65,821,991 (GRCm39) V742A probably damaging Het
Col12a1 G A 9: 79,511,804 (GRCm39) R133* probably null Het
Col18a1 A C 10: 76,948,578 (GRCm39) S311R possibly damaging Het
Col9a3 G A 2: 180,248,927 (GRCm39) V260M probably damaging Het
Coq2 T A 5: 100,809,731 (GRCm39) R17S probably damaging Het
Ctf1 A G 7: 127,311,936 (GRCm39) R4G probably damaging Het
Cwc27 T C 13: 104,768,184 (GRCm39) D437G probably benign Het
Cyp4f14 T C 17: 33,125,289 (GRCm39) N430D probably damaging Het
Dars2 A G 1: 160,890,811 (GRCm39) probably null Het
Dgkz A T 2: 91,767,449 (GRCm39) M848K possibly damaging Het
Dnhd1 T G 7: 105,357,789 (GRCm39) V3208G probably benign Het
Dsg1b A G 18: 20,528,963 (GRCm39) Y233C probably damaging Het
Edem3 A T 1: 151,680,034 (GRCm39) D460V probably damaging Het
Ednra A G 8: 78,415,747 (GRCm39) S167P possibly damaging Het
Eif3m A T 2: 104,831,624 (GRCm39) V180D probably damaging Het
Fam217a T A 13: 35,094,864 (GRCm39) R207S probably damaging Het
Fcgbp G A 7: 27,806,518 (GRCm39) G2162D probably damaging Het
Fhod3 A T 18: 25,223,335 (GRCm39) I894F probably benign Het
Fpgs A T 2: 32,577,993 (GRCm39) I143N probably damaging Het
Fpr-rs6 A G 17: 20,403,152 (GRCm39) S70P probably benign Het
Frs2 T C 10: 116,914,806 (GRCm39) M38V probably damaging Het
Fsip2 A G 2: 82,810,902 (GRCm39) N2407S possibly damaging Het
Gabrg2 T A 11: 41,811,297 (GRCm39) T283S probably benign Het
Gas2l1 T A 11: 5,011,408 (GRCm39) T474S probably benign Het
Gli1 A T 10: 127,167,108 (GRCm39) M715K possibly damaging Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm5800 T A 14: 51,949,396 (GRCm39) N183I possibly damaging Het
Gm8674 T A 13: 50,055,471 (GRCm39) noncoding transcript Het
Gnat3 A T 5: 18,224,508 (GRCm39) I303F possibly damaging Het
Grpr C A X: 162,332,137 (GRCm39) V53L probably benign Het
Heatr5b T C 17: 79,103,347 (GRCm39) I1169V possibly damaging Het
Icam5 A G 9: 20,946,082 (GRCm39) T305A probably benign Het
Itga11 T A 9: 62,651,796 (GRCm39) N309K probably damaging Het
Itgb6 T C 2: 60,499,493 (GRCm39) D100G probably benign Het
Kdm3b A G 18: 34,946,597 (GRCm39) K862R probably benign Het
Kif7 T C 7: 79,361,286 (GRCm39) D135G probably benign Het
Lrp4 A G 2: 91,310,777 (GRCm39) D606G probably damaging Het
Lrrtm1 A T 6: 77,221,949 (GRCm39) probably null Het
Metap1d A T 2: 71,352,927 (GRCm39) H252L possibly damaging Het
Mfhas1 A G 8: 36,058,251 (GRCm39) K909E possibly damaging Het
Mrgprh C T 17: 13,095,838 (GRCm39) T26I probably damaging Het
Myo15b T C 11: 115,754,310 (GRCm39) S937P probably benign Het
Neto2 A T 8: 86,397,033 (GRCm39) I73N possibly damaging Het
Nod2 T C 8: 89,390,347 (GRCm39) I196T probably benign Het
Nvl T G 1: 180,926,693 (GRCm39) T788P probably damaging Het
Or13a25 C A 7: 140,247,951 (GRCm39) C243* probably null Het
Or2h2 A T 17: 37,396,906 (GRCm39) D50E possibly damaging Het
Pax3 G A 1: 78,080,117 (GRCm39) T423I possibly damaging Het
Pde4dip A G 3: 97,600,007 (GRCm39) V2403A possibly damaging Het
Phip C T 9: 82,785,235 (GRCm39) V827I probably benign Het
Plcb3 A G 19: 6,941,977 (GRCm39) F285L probably damaging Het
Pnp2 A G 14: 51,193,675 (GRCm39) I16V probably benign Het
Pola2 A G 19: 6,003,769 (GRCm39) L202P probably damaging Het
Ppfia1 A T 7: 144,058,847 (GRCm39) N651K probably benign Het
Prss53 T C 7: 127,485,920 (GRCm39) probably null Het
Rasgrf1 G T 9: 89,835,966 (GRCm39) Q231H probably damaging Het
Rasgrf2 A T 13: 92,131,825 (GRCm39) probably null Het
Rccd1 T A 7: 79,970,272 (GRCm39) N115I possibly damaging Het
Rpgrip1 A T 14: 52,352,101 (GRCm39) T26S possibly damaging Het
Rpn1 T A 6: 88,070,841 (GRCm39) V237E probably damaging Het
Sema4f G T 6: 82,907,908 (GRCm39) P180Q probably damaging Het
Slc36a4 T C 9: 15,632,085 (GRCm39) V87A probably damaging Het
Slc5a4b A T 10: 75,917,307 (GRCm39) V243E possibly damaging Het
Sos2 T G 12: 69,695,315 (GRCm39) I141L probably damaging Het
Srbd1 A G 17: 86,410,321 (GRCm39) V537A probably damaging Het
Sugp1 A G 8: 70,509,225 (GRCm39) E166G possibly damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tshr T C 12: 91,503,955 (GRCm39) S298P probably damaging Het
Tspan14 T C 14: 40,656,209 (GRCm39) Y6C probably damaging Het
Ttn A T 2: 76,577,384 (GRCm39) V24503E probably damaging Het
Vcan T A 13: 89,851,045 (GRCm39) N1305I probably damaging Het
Vmn2r81 A G 10: 79,083,628 (GRCm39) M1V probably null Het
Vps39 A T 2: 120,148,558 (GRCm39) V873E probably damaging Het
Vstm2a A T 11: 16,359,734 (GRCm39) D270V unknown Het
Wdr24 A T 17: 26,043,240 (GRCm39) M21L possibly damaging Het
Wee1 A G 7: 109,721,698 (GRCm39) T48A probably benign Het
Zfp369 T C 13: 65,444,965 (GRCm39) C703R probably damaging Het
Zfp532 A T 18: 65,818,682 (GRCm39) D1114V probably damaging Het
Zfp758 A G 17: 22,592,633 (GRCm39) T46A 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
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
Predicted Primers PCR Primer
(F):5'- GACTGAACTGCCGGTTGAAC -3'
(R):5'- TAAGCAAGTGATGTTGGGGC -3'

Sequencing Primer
(F):5'- GTTGAACTTCCTGCCAGGCAAAG -3'
(R):5'- GGAGACCTCTTCTGCTCCTG -3'
Posted On 2014-07-14