Incidental Mutation 'R8179:Grin2d'
ID 634548
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 067604-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.487) question?
Stock # R8179 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 45481307-45520708 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 45507452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 416 (Y416*)
Ref Sequence ENSEMBL: ENSMUSP00000002848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002848] [ENSMUST00000211713]
AlphaFold Q03391
Predicted Effect probably null
Transcript: ENSMUST00000002848
AA Change: Y416*
SMART Domains Protein: ENSMUSP00000002848
Gene: ENSMUSG00000002771
AA Change: Y416*

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 null
Transcript: ENSMUST00000211713
AA Change: Y416*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,136,100 (GRCm39) Y170H probably damaging Het
Ace3 G T 11: 105,895,383 (GRCm39) V602L probably benign Het
Ahr T C 12: 35,560,050 (GRCm39) Q201R probably benign Het
Aldh18a1 A C 19: 40,545,952 (GRCm39) C612G probably damaging Het
Ankrd40 G A 11: 94,225,541 (GRCm39) A191T probably benign Het
Aox1 A G 1: 58,137,117 (GRCm39) D1169G probably damaging Het
Arfgap2 T C 2: 91,105,668 (GRCm39) F505L probably damaging Het
Arhgap40 T C 2: 158,381,776 (GRCm39) F423L probably damaging Het
Atf6b T C 17: 34,872,968 (GRCm39) M628T probably damaging Het
Casp8ap2 T A 4: 32,643,939 (GRCm39) L1004* probably null Het
Cc2d2a T A 5: 43,857,295 (GRCm39) L494Q probably damaging Het
Cd180 T C 13: 102,842,141 (GRCm39) S396P probably benign Het
Cdk19 T C 10: 40,270,368 (GRCm39) I59T possibly damaging Het
Cfap54 G T 10: 92,833,178 (GRCm39) F1149L possibly damaging Het
Chp1 C T 2: 119,378,253 (GRCm39) probably benign Het
Clmp T C 9: 40,692,475 (GRCm39) F248S probably benign Het
Ctc1 T A 11: 68,915,050 (GRCm39) I237K probably benign Het
Dcaf1 G T 9: 106,735,115 (GRCm39) V688L probably damaging Het
Ddx54 T A 5: 120,765,167 (GRCm39) M812K probably benign Het
Disc1 C T 8: 125,814,316 (GRCm39) P60L probably benign Het
Disp2 C G 2: 118,623,030 (GRCm39) P1254R probably damaging Het
Dnah11 T A 12: 117,842,284 (GRCm39) I4432F possibly damaging Het
Dnajc15 A T 14: 78,090,393 (GRCm39) I58N Het
Elovl5 A G 9: 77,884,181 (GRCm39) N159S probably damaging Het
Fgfr3 T C 5: 33,885,099 (GRCm39) V71A probably benign Het
Frs2 A T 10: 116,912,791 (GRCm39) H167Q probably damaging Het
Gm4553 A T 7: 141,718,594 (GRCm39) V278E unknown Het
Hmcn1 A T 1: 150,598,265 (GRCm39) V1679E probably benign Het
Igkv18-36 T C 6: 69,969,479 (GRCm39) Y105C probably damaging Het
Lingo1 T C 9: 56,527,134 (GRCm39) D491G probably damaging Het
Map3k1 A C 13: 111,885,581 (GRCm39) I1445M probably damaging Het
Med30 A T 15: 52,575,964 (GRCm39) Q20L probably damaging Het
Mgat5b A G 11: 116,822,554 (GRCm39) E96G probably benign Het
Mmp16 T A 4: 17,853,854 (GRCm39) probably null Het
Mogat1 A G 1: 78,504,255 (GRCm39) D176G possibly damaging Het
Mre11a T A 9: 14,708,362 (GRCm39) D142E probably null Het
Mybpc2 C A 7: 44,159,254 (GRCm39) V599L probably benign Het
Myot A T 18: 44,487,197 (GRCm39) R345* probably null Het
Or10d5 G A 9: 39,861,708 (GRCm39) R120C probably benign Het
Or10z1 T G 1: 174,078,130 (GRCm39) D121A possibly damaging Het
Or8g53 C T 9: 39,683,200 (GRCm39) V299I probably benign Het
Pglyrp2 T C 17: 32,635,003 (GRCm39) Y453C possibly damaging Het
Phrf1 A G 7: 140,836,493 (GRCm39) Y255C unknown Het
Plppr4 A G 3: 117,125,327 (GRCm39) S171P probably damaging Het
Ppip5k1 A T 2: 121,172,095 (GRCm39) probably null Het
Pramel57 T C 5: 95,667,753 (GRCm39) V111A probably benign Het
Rapgef3 A T 15: 97,658,621 (GRCm39) H170Q probably benign Het
Rnf10 ACCTCATCTCGTC AC 5: 115,398,176 (GRCm39) probably null Het
Rpe65 A G 3: 159,330,336 (GRCm39) Y501C probably benign Het
Ruvbl2 A G 7: 45,072,196 (GRCm39) I346T probably damaging Het
Sema3g A G 14: 30,942,542 (GRCm39) I48V probably benign Het
Slc4a10 A C 2: 62,073,792 (GRCm39) S285R possibly damaging Het
Slc6a11 G A 6: 114,222,567 (GRCm39) G521S probably benign Het
Slit3 A G 11: 35,554,903 (GRCm39) N912D probably benign Het
Traf3ip1 T C 1: 91,428,523 (GRCm39) V128A unknown Het
Trpc7 T A 13: 57,035,693 (GRCm39) N80I probably damaging Het
Ttc21b G A 2: 66,031,824 (GRCm39) H1031Y probably benign Het
Tubg2 A T 11: 101,051,082 (GRCm39) I235F probably benign Het
Ube2q2l A G 6: 136,378,240 (GRCm39) S197P probably damaging Het
Vmn2r118 A T 17: 55,915,484 (GRCm39) Y489N probably benign Het
Vmn2r54 G T 7: 12,366,018 (GRCm39) C305* probably null Het
Vmn2r86 G A 10: 130,288,953 (GRCm39) H183Y probably benign Het
Xrcc5 T C 1: 72,396,016 (GRCm39) V603A probably damaging Het
Zfp110 T A 7: 12,578,498 (GRCm39) Y136* probably null Het
Zfp112 C T 7: 23,825,063 (GRCm39) P348S 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
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'- AAGAATTTCTTGGCTTCCCCGC -3'
(R):5'- ACACTCTGGAATGCTGCCAC -3'

Sequencing Primer
(F):5'- TAGCCCGCTGTGCTTCAG -3'
(R):5'- ACGGTGCTCGGCAGTATGAC -3'
Posted On 2020-07-13