Incidental Mutation 'R8877:Grin2d'
ID 676638
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 068745-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.487) question?
Stock # R8877 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 45481307-45520708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45503699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 679 (I679V)
Ref Sequence ENSEMBL: ENSMUSP00000002848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002848] [ENSMUST00000211713]
AlphaFold Q03391
Predicted Effect probably damaging
Transcript: ENSMUST00000002848
AA Change: I679V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002848
Gene: ENSMUSG00000002771
AA Change: I679V

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: I679V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T A 7: 12,288,704 (GRCm39) probably null Het
Acp2 G A 2: 91,036,129 (GRCm39) R109H probably damaging Het
Adamts8 T C 9: 30,862,688 (GRCm39) S298P probably damaging Het
Anxa7 A G 14: 20,517,548 (GRCm39) V157A probably benign Het
Arid3b T C 9: 57,740,904 (GRCm39) K181E probably damaging Het
Armt1 A G 10: 4,400,864 (GRCm39) T204A possibly damaging Het
Brip1 A C 11: 86,043,532 (GRCm39) V344G possibly damaging Het
Ccdc40 C T 11: 119,153,992 (GRCm39) S1088L probably damaging Het
Ccdc93 A T 1: 121,403,867 (GRCm39) H332L probably benign Het
Celsr3 A G 9: 108,706,877 (GRCm39) D1120G probably damaging Het
Cep104 T A 4: 154,077,985 (GRCm39) I631N probably damaging Het
Col17a1 C T 19: 47,637,197 (GRCm39) A1354T unknown Het
Cpa2 T C 6: 30,541,692 (GRCm39) L10P probably damaging Het
Creg2 G T 1: 39,689,861 (GRCm39) T83K probably benign Het
Ddit3 T C 10: 127,131,884 (GRCm39) I144T probably damaging Het
Dmxl1 A G 18: 50,011,292 (GRCm39) I1150V possibly damaging Het
Eprs1 C T 1: 185,148,071 (GRCm39) R1278* probably null Het
Esco1 A G 18: 10,575,017 (GRCm39) V685A probably damaging Het
Gid8 C T 2: 180,358,710 (GRCm39) A125V probably damaging Het
Gin1 A G 1: 97,710,941 (GRCm39) D208G possibly damaging Het
Gja10 G A 4: 32,602,441 (GRCm39) probably benign Het
Gsto2 C A 19: 47,873,176 (GRCm39) R184S probably damaging Het
Hira T A 16: 18,770,854 (GRCm39) H830Q probably benign Het
Hmcn1 G A 1: 150,514,659 (GRCm39) T3571I probably benign Het
Khnyn T C 14: 56,131,782 (GRCm39) V568A possibly damaging Het
Kif13a T A 13: 46,954,921 (GRCm39) probably null Het
Larp4b T C 13: 9,193,835 (GRCm39) V161A probably benign Het
Larp6 T A 9: 60,644,850 (GRCm39) M330K probably benign Het
Lhfpl6 A G 3: 52,950,974 (GRCm39) R83G possibly damaging Het
Mavs A G 2: 131,087,489 (GRCm39) N329S possibly damaging Het
Mep1b T A 18: 21,221,630 (GRCm39) N193K possibly damaging Het
Msantd5f6 T A 4: 73,322,468 (GRCm39) R12* probably null Het
Mttp A T 3: 137,818,317 (GRCm39) D380E probably damaging Het
Nbeal2 G A 9: 110,459,311 (GRCm39) T1939I probably damaging Het
Nsun7 A T 5: 66,453,294 (GRCm39) R670* probably null Het
Obsl1 G A 1: 75,473,167 (GRCm39) R1019* probably null Het
Or10ak12 A G 4: 118,666,482 (GRCm39) V193A probably damaging Het
Or5w11 T C 2: 87,459,212 (GRCm39) M19T probably damaging Het
Phc3 C T 3: 30,968,271 (GRCm39) V922I probably damaging Het
Pip5kl1 T C 2: 32,468,951 (GRCm39) V190A possibly damaging Het
Plekhg2 G T 7: 28,060,278 (GRCm39) T993N possibly damaging Het
Psg26 C T 7: 18,217,865 (GRCm39) V18I probably benign Het
Slc11a1 A G 1: 74,419,424 (GRCm39) Y187C probably damaging Het
Smarcd3 A G 5: 24,798,990 (GRCm39) S323P possibly damaging Het
Spen G T 4: 141,199,137 (GRCm39) Y3163* probably null Het
Stx4a T A 7: 127,447,633 (GRCm39) V259D probably damaging Het
Synj2 T C 17: 6,087,941 (GRCm39) S1331P probably damaging Het
Tmprss11c G A 5: 86,385,540 (GRCm39) Q311* probably null Het
Tpo T A 12: 30,142,738 (GRCm39) N662I probably damaging Het
Trav13d-4 C A 14: 53,995,350 (GRCm39) D101E probably damaging Het
Trbv14 G A 6: 41,112,292 (GRCm39) A30T probably benign Het
Unc80 T C 1: 66,567,144 (GRCm39) S917P possibly damaging Het
Zc3h6 T A 2: 128,856,319 (GRCm39) C466* probably null Het
Zfp462 T C 4: 55,011,097 (GRCm39) V1021A probably damaging Het
Zfp51 T C 17: 21,682,017 (GRCm39) M72T probably damaging Het
Zfp704 C T 3: 9,674,416 (GRCm39) E122K unknown Het
Zfyve26 T C 12: 79,334,152 (GRCm39) K289E 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
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
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
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'- ACCCCATTTGGCATCACTG -3'
(R):5'- TACCTTCACCATTGGGAAATCC -3'

Sequencing Primer
(F):5'- GGACATTGGGAACAGCCTCTTTC -3'
(R):5'- TCACCATTGGGAAATCCATCTGG -3'
Posted On 2021-07-15