Incidental Mutation 'R8100:Grin2d'
ID 630452
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 067532-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.487) question?
Stock # R8100 (G1)
Quality Score 116.008
Status Not validated
Chromosome 7
Chromosomal Location 45481307-45520708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45483171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1002 (Y1002C)
Ref Sequence ENSEMBL: ENSMUSP00000002848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002848] [ENSMUST00000107723] [ENSMUST00000131384] [ENSMUST00000209484] [ENSMUST00000211265] [ENSMUST00000211713]
AlphaFold Q03391
Predicted Effect unknown
Transcript: ENSMUST00000002848
AA Change: Y1002C
SMART Domains Protein: ENSMUSP00000002848
Gene: ENSMUSG00000002771
AA Change: Y1002C

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: ENSMUST00000107723
SMART Domains Protein: ENSMUSP00000103351
Gene: ENSMUSG00000053801

DomainStartEndE-ValueType
Pfam:CAF1C_H4-bd 42 113 8.6e-18 PFAM
low complexity region 123 136 N/A INTRINSIC
Blast:WD40 138 179 1e-18 BLAST
WD40 203 243 1.58e-2 SMART
WD40 249 290 5.47e-6 SMART
WD40 297 336 2.22e-6 SMART
WD40 342 382 2.59e-7 SMART
Blast:WD40 404 442 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000131384
SMART Domains Protein: ENSMUSP00000116252
Gene: ENSMUSG00000053801

DomainStartEndE-ValueType
Pfam:CAF1C_H4-bd 44 112 2.7e-15 PFAM
low complexity region 123 136 N/A INTRINSIC
Blast:WD40 138 179 1e-18 BLAST
WD40 203 243 1.58e-2 SMART
WD40 249 290 5.47e-6 SMART
WD40 297 336 2.22e-6 SMART
WD40 342 382 2.59e-7 SMART
Blast:WD40 404 442 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000209484
Predicted Effect probably benign
Transcript: ENSMUST00000211265
Predicted Effect unknown
Transcript: ENSMUST00000211713
AA Change: Y1002C
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 G A 14: 56,009,722 (GRCm39) Q777* probably null Het
Art1 T C 7: 101,756,405 (GRCm39) S199P probably damaging Het
Cadps2 A T 6: 23,838,808 (GRCm39) M110K probably damaging Het
Cdk13 C T 13: 17,978,101 (GRCm39) R379Q unknown Het
Cdk7 T C 13: 100,842,925 (GRCm39) I272V probably benign Het
Cep350 T C 1: 155,829,148 (GRCm39) D192G probably damaging Het
Chrna6 C T 8: 27,903,844 (GRCm39) probably benign Het
Ciart G A 3: 95,788,656 (GRCm39) P61L probably damaging Het
Ckmt1 T A 2: 121,191,258 (GRCm39) D223E probably benign Het
Col6a5 C T 9: 105,755,839 (GRCm39) R2195H probably damaging Het
D430041D05Rik C T 2: 104,087,287 (GRCm39) R563H probably benign Het
Defa29 A T 8: 21,816,990 (GRCm39) M1K probably null Het
Dnah11 A G 12: 117,930,368 (GRCm39) S3326P probably damaging Het
Dsg3 A G 18: 20,662,028 (GRCm39) D431G probably benign Het
Ell3 TCTCCTC TCTC 2: 121,269,937 (GRCm39) probably benign Het
Fbln1 T A 15: 85,169,357 (GRCm39) F699I probably damaging Het
Fndc1 A G 17: 7,990,685 (GRCm39) S1004P unknown Het
Gpr15 T A 16: 58,538,076 (GRCm39) T338S probably benign Het
Hk2 C T 6: 82,707,859 (GRCm39) M703I probably benign Het
Ifi213 A C 1: 173,422,748 (GRCm39) L39R probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Lama2 C A 10: 26,917,113 (GRCm39) A2271S probably benign Het
Lmo7 A T 14: 102,137,899 (GRCm39) Q867L probably benign Het
Loxhd1 T A 18: 77,492,512 (GRCm39) S1427T possibly damaging Het
Lzts1 A G 8: 69,593,397 (GRCm39) V70A probably damaging Het
Mocs3 A G 2: 168,073,257 (GRCm39) T235A possibly damaging Het
Myo15a G A 11: 60,408,016 (GRCm39) R3168H probably damaging Het
Ndc1 A G 4: 107,240,802 (GRCm39) D260G possibly damaging Het
Nfam1 T C 15: 82,900,730 (GRCm39) D44G probably damaging Het
Or4a47 G A 2: 89,666,029 (GRCm39) Q87* probably null Het
Osbpl10 G A 9: 114,996,322 (GRCm39) R128H probably benign Het
Otx1 C A 11: 21,949,392 (GRCm39) V29L probably benign Het
Pogk A T 1: 166,229,511 (GRCm39) D113E possibly damaging Het
Ptgs2 T C 1: 149,978,472 (GRCm39) F195L probably damaging Het
Ptpn21 T A 12: 98,648,881 (GRCm39) E925V possibly damaging Het
Ranbp2 T C 10: 58,326,470 (GRCm39) F2714L possibly damaging Het
Rbm20 T G 19: 53,839,744 (GRCm39) I911S possibly damaging Het
Rwdd2b A G 16: 87,233,509 (GRCm39) V197A possibly damaging Het
Sel1l2 C G 2: 140,117,329 (GRCm39) A181P probably damaging Het
Sf1 A G 19: 6,422,368 (GRCm39) E234G possibly damaging Het
Skint2 A C 4: 112,483,197 (GRCm39) T201P probably damaging Het
Sra1 C T 18: 36,809,948 (GRCm39) R199H probably damaging Het
Svs5 A G 2: 164,079,712 (GRCm39) M65T probably benign Het
Tgif1 C A 17: 71,153,544 (GRCm39) probably benign Het
Tmem184c A G 8: 78,331,411 (GRCm39) W113R possibly damaging Het
Tmem30a T C 9: 79,681,432 (GRCm39) R282G probably benign Het
Top1 T A 2: 160,540,155 (GRCm39) Y244* probably null Het
Trank1 A G 9: 111,221,861 (GRCm39) Y2866C probably damaging Het
Trim7 A C 11: 48,740,346 (GRCm39) I148L probably damaging Het
Triml1 T A 8: 43,591,717 (GRCm39) M214L probably benign Het
Usp30 T G 5: 114,249,245 (GRCm39) V183G probably damaging Het
Vmn1r175 G A 7: 23,508,012 (GRCm39) S205F probably damaging Het
Zbtb32 CTTG CTTGTTG 7: 30,290,946 (GRCm39) probably benign Het
Zfp108 T A 7: 23,960,602 (GRCm39) C398S probably damaging Het
Zfp592 T G 7: 80,673,940 (GRCm39) D301E probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null 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
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'- GCTTGTCAACCGACCAGTAG -3'
(R):5'- AGGGTATGTACAGCTGCTGC -3'

Sequencing Primer
(F):5'- AGGCTCTCCGAATCCTCG -3'
(R):5'- GCCCAGTCCGGCGTATC -3'
Posted On 2020-06-30