Incidental Mutation 'R2103:Grin2b'
ID 230682
Institutional Source Beutler Lab
Gene Symbol Grin2b
Ensembl Gene ENSMUSG00000030209
Gene Name glutamate receptor, ionotropic, NMDA2B (epsilon 2)
Synonyms GluRepsilon2, NMDAR2B, GluN2B, Nmdar2b, NR2B
MMRRC Submission 040107-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2103 (G1)
Quality Score 127
Status Not validated
Chromosome 6
Chromosomal Location 135713233-136173511 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135780140 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 441 (I441N)
Ref Sequence ENSEMBL: ENSMUSP00000107536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053880] [ENSMUST00000111905]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000053880
AA Change: I441N

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000062284
Gene: ENSMUSG00000030209
AA Change: I441N

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:ANF_receptor 106 306 8.6e-10 PFAM
PBPe 431 799 1.06e-67 SMART
Lig_chan-Glu_bd 440 503 1.82e-22 SMART
Pfam:NMDAR2_C 840 1482 4.8e-270 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111905
AA Change: I441N

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000107536
Gene: ENSMUSG00000030209
AA Change: I441N

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:ANF_receptor 56 307 4.2e-10 PFAM
PBPe 431 799 1.06e-67 SMART
Lig_chan-Glu_bd 440 503 1.82e-22 SMART
Pfam:NMDAR2_C 840 1482 2.1e-245 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
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 receptor 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 three different subunits: NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The NR2 subunit acts as the agonist binding site for glutamate. This receptor is the predominant excitatory neurotransmitter receptor in the mammalian brain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impairments in suckling, in hippocampal long term depression, and in pattern formation of trigeminal nucleus sensory afferent terminals. Mutants die shortly after birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac C A 3: 60,039,814 (GRCm38) P311Q probably damaging Het
Acoxl T A 2: 127,972,606 (GRCm38) M314K probably damaging Het
Agmat A T 4: 141,755,903 (GRCm38) D216V probably damaging Het
Aida A T 1: 183,313,692 (GRCm38) E107D probably benign Het
Ano5 A G 7: 51,537,813 (GRCm38) K50R possibly damaging Het
Anxa2 A T 9: 69,483,816 (GRCm38) D95V probably damaging Het
Aspm G A 1: 139,491,665 (GRCm38) V3023M probably damaging Het
Atg16l2 A G 7: 101,290,361 (GRCm38) probably null Het
B3galt4 G A 17: 33,950,839 (GRCm38) R142C probably damaging Het
B3galt5 A T 16: 96,316,025 (GRCm38) K286M probably damaging Het
Best3 A C 10: 117,002,594 (GRCm38) I186L probably benign Het
Blm G T 7: 80,505,949 (GRCm38) probably null Het
Cat A T 2: 103,463,315 (GRCm38) D389E probably damaging Het
Cluh C A 11: 74,659,529 (GRCm38) C222* probably null Het
Cntnap2 G A 6: 47,298,588 (GRCm38) E1325K probably damaging Het
Col14a1 A T 15: 55,449,940 (GRCm38) D1320V unknown Het
Col4a3bp T A 13: 96,634,886 (GRCm38) N550K probably damaging Het
Cpne7 A G 8: 123,127,437 (GRCm38) K288E possibly damaging Het
Cyp26b1 A G 6: 84,575,050 (GRCm38) S369P possibly damaging Het
Cyp2j9 T A 4: 96,571,964 (GRCm38) K434M probably damaging Het
Dpyd G C 3: 119,064,952 (GRCm38) S605T probably benign Het
Dst A G 1: 34,190,258 (GRCm38) T1986A probably benign Het
Ebf2 T A 14: 67,387,942 (GRCm38) V233D probably damaging Het
Ecm2 A G 13: 49,530,256 (GRCm38) D570G probably benign Het
Efhc1 T A 1: 20,989,560 (GRCm38) C611* probably null Het
Epop T C 11: 97,628,654 (GRCm38) T210A probably benign Het
Fdxacb1 A T 9: 50,771,646 (GRCm38) N101I probably benign Het
Fezf1 A G 6: 23,247,332 (GRCm38) F248S possibly damaging Het
Galnt16 A G 12: 80,583,656 (GRCm38) D262G probably damaging Het
Gm9507 T A 10: 77,811,666 (GRCm38) probably benign Het
H2-Eb2 A G 17: 34,334,304 (GRCm38) I155V probably benign Het
Hectd4 C A 5: 121,355,629 (GRCm38) D3811E probably benign Het
Herc4 T C 10: 63,246,110 (GRCm38) S71P probably benign Het
Hhipl1 A G 12: 108,327,718 (GRCm38) T628A probably benign Het
Hoga1 A C 19: 42,060,020 (GRCm38) probably null Het
Igf2bp1 A G 11: 95,975,296 (GRCm38) V122A probably damaging Het
Il10ra C A 9: 45,255,811 (GRCm38) A481S probably benign Het
Klk1b26 A T 7: 44,016,900 (GRCm38) T256S probably damaging Het
Kndc1 C T 7: 139,921,234 (GRCm38) T813I probably benign Het
Limch1 A G 5: 66,998,729 (GRCm38) K394R probably benign Het
Lrrc37a T C 11: 103,500,261 (GRCm38) E1446G probably benign Het
Lrrc47 C T 4: 154,015,893 (GRCm38) R287W probably damaging Het
Mdn1 T A 4: 32,738,712 (GRCm38) L3555Q possibly damaging Het
Mei1 G T 15: 82,107,036 (GRCm38) V472F probably damaging Het
Mei1 A G 15: 82,103,204 (GRCm38) H399R possibly damaging Het
Mrps34 T A 17: 24,895,490 (GRCm38) probably null Het
Myom3 A G 4: 135,776,412 (GRCm38) T391A probably benign Het
Nfib G A 4: 82,330,408 (GRCm38) T314I possibly damaging Het
Olfr1451 T C 19: 12,999,502 (GRCm38) V172A possibly damaging Het
Olfr459 A G 6: 41,772,005 (GRCm38) I98T probably benign Het
Olfr498 A G 7: 108,465,603 (GRCm38) N93S probably benign Het
Olfr774 T C 10: 129,238,499 (GRCm38) S117P probably damaging Het
Pdia3 G C 2: 121,433,993 (GRCm38) G346A probably damaging Het
Plce1 T C 19: 38,777,924 (GRCm38) F2117S probably damaging Het
Plec A G 15: 76,173,543 (GRCm38) F4055L probably damaging Het
Ppip5k1 A T 2: 121,321,653 (GRCm38) probably null Het
Psma6 T C 12: 55,408,057 (GRCm38) I57T probably benign Het
Psme2 A T 14: 55,590,840 (GRCm38) probably null Het
Reln A T 5: 21,969,360 (GRCm38) D1948E possibly damaging Het
Rsf1 GGCG GGCGACGGCAGCG 7: 97,579,906 (GRCm38) probably benign Het
Sbno1 G T 5: 124,393,937 (GRCm38) S727R probably damaging Het
Serpina3m C A 12: 104,389,699 (GRCm38) Y208* probably null Het
Serpind1 T C 16: 17,342,944 (GRCm38) V446A probably benign Het
Shc3 T A 13: 51,442,836 (GRCm38) M384L probably benign Het
Slc38a11 A G 2: 65,330,339 (GRCm38) F304L probably benign Het
Slc4a5 A C 6: 83,224,681 (GRCm38) D4A probably benign Het
Slc4a5 G A 6: 83,297,378 (GRCm38) A1076T probably benign Het
Slpi C T 2: 164,355,543 (GRCm38) C28Y probably damaging Het
Sptan1 T C 2: 30,030,471 (GRCm38) S2320P probably damaging Het
Stim2 A G 5: 54,105,249 (GRCm38) T278A possibly damaging Het
Sympk T A 7: 19,054,116 (GRCm38) S1186T probably benign Het
Tbrg1 T C 9: 37,649,419 (GRCm38) D387G probably benign Het
Tns2 A T 15: 102,112,665 (GRCm38) probably null Het
Tnxb A G 17: 34,682,251 (GRCm38) Y1013C probably damaging Het
Tpsg1 T C 17: 25,373,293 (GRCm38) S41P possibly damaging Het
Trim36 T C 18: 46,196,082 (GRCm38) N85S probably benign Het
Trpm6 A T 19: 18,796,284 (GRCm38) H380L probably benign Het
Tssk4 A G 14: 55,651,540 (GRCm38) I174M probably damaging Het
Ttn C T 2: 76,946,391 (GRCm38) probably null Het
Vmn2r114 ATTT ATT 17: 23,290,932 (GRCm38) probably null Het
Vmn2r4 T A 3: 64,415,283 (GRCm38) N5I possibly damaging Het
Vps11 G A 9: 44,359,227 (GRCm38) H183Y probably damaging Het
Vsig10l A G 7: 43,467,468 (GRCm38) T476A possibly damaging Het
Vwa8 C T 14: 78,908,230 (GRCm38) R116C probably damaging Het
Vwf G A 6: 125,646,330 (GRCm38) V1797I probably benign Het
Wasl A T 6: 24,618,378 (GRCm38) S447T unknown Het
Whamm C T 7: 81,591,771 (GRCm38) R277* probably null Het
Zfp874a T A 13: 67,442,504 (GRCm38) I354F probably benign Het
Other mutations in Grin2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Grin2b APN 6 135,736,331 (GRCm38) missense possibly damaging 0.55
IGL00835:Grin2b APN 6 135,733,570 (GRCm38) missense probably damaging 1.00
IGL01401:Grin2b APN 6 135,736,363 (GRCm38) missense probably damaging 1.00
IGL01523:Grin2b APN 6 136,044,265 (GRCm38) missense probably null 0.99
IGL01719:Grin2b APN 6 135,733,381 (GRCm38) missense probably damaging 0.97
IGL01907:Grin2b APN 6 135,733,740 (GRCm38) missense probably damaging 1.00
IGL01996:Grin2b APN 6 135,732,586 (GRCm38) missense probably damaging 1.00
IGL02309:Grin2b APN 6 135,736,472 (GRCm38) missense probably damaging 1.00
IGL02312:Grin2b APN 6 135,739,090 (GRCm38) missense probably damaging 1.00
IGL02409:Grin2b APN 6 136,043,908 (GRCm38) missense possibly damaging 0.89
IGL02527:Grin2b APN 6 135,923,391 (GRCm38) missense probably damaging 1.00
IGL02535:Grin2b APN 6 135,779,369 (GRCm38) missense possibly damaging 0.70
IGL02570:Grin2b APN 6 135,922,998 (GRCm38) missense probably damaging 1.00
IGL02702:Grin2b APN 6 135,739,132 (GRCm38) missense probably damaging 0.99
IGL03001:Grin2b APN 6 135,739,115 (GRCm38) missense probably damaging 1.00
IGL03274:Grin2b APN 6 135,780,255 (GRCm38) missense possibly damaging 0.90
R0055:Grin2b UTSW 6 135,923,203 (GRCm38) missense probably benign
R0055:Grin2b UTSW 6 135,923,203 (GRCm38) missense probably benign
R0164:Grin2b UTSW 6 135,778,648 (GRCm38) splice site probably benign
R0194:Grin2b UTSW 6 135,779,305 (GRCm38) missense probably damaging 1.00
R0594:Grin2b UTSW 6 135,733,929 (GRCm38) missense probably damaging 1.00
R1434:Grin2b UTSW 6 135,843,195 (GRCm38) missense probably benign 0.04
R1928:Grin2b UTSW 6 136,044,046 (GRCm38) missense probably damaging 1.00
R1942:Grin2b UTSW 6 135,732,732 (GRCm38) missense possibly damaging 0.93
R1996:Grin2b UTSW 6 136,044,211 (GRCm38) missense possibly damaging 0.52
R2002:Grin2b UTSW 6 135,733,245 (GRCm38) missense probably damaging 1.00
R2020:Grin2b UTSW 6 135,733,896 (GRCm38) missense probably benign 0.12
R2127:Grin2b UTSW 6 135,778,700 (GRCm38) missense probably benign 0.03
R2495:Grin2b UTSW 6 135,733,182 (GRCm38) missense probably damaging 1.00
R2656:Grin2b UTSW 6 135,733,429 (GRCm38) missense probably damaging 1.00
R2847:Grin2b UTSW 6 135,740,953 (GRCm38) missense probably damaging 1.00
R2866:Grin2b UTSW 6 135,733,639 (GRCm38) missense probably damaging 1.00
R2867:Grin2b UTSW 6 135,733,639 (GRCm38) missense probably damaging 1.00
R2867:Grin2b UTSW 6 135,733,639 (GRCm38) missense probably damaging 1.00
R3196:Grin2b UTSW 6 135,732,455 (GRCm38) small deletion probably benign
R3418:Grin2b UTSW 6 135,843,110 (GRCm38) missense probably benign 0.02
R3808:Grin2b UTSW 6 135,923,271 (GRCm38) missense probably damaging 0.99
R4028:Grin2b UTSW 6 135,736,435 (GRCm38) missense probably damaging 1.00
R4602:Grin2b UTSW 6 135,778,741 (GRCm38) missense probably damaging 1.00
R4624:Grin2b UTSW 6 135,733,825 (GRCm38) missense probably damaging 0.99
R4677:Grin2b UTSW 6 135,774,872 (GRCm38) missense probably benign 0.13
R4744:Grin2b UTSW 6 135,778,699 (GRCm38) missense probably damaging 1.00
R5020:Grin2b UTSW 6 135,733,407 (GRCm38) missense probably benign 0.01
R5051:Grin2b UTSW 6 135,779,395 (GRCm38) missense possibly damaging 0.84
R5105:Grin2b UTSW 6 135,732,441 (GRCm38) missense probably benign 0.03
R5125:Grin2b UTSW 6 135,923,299 (GRCm38) missense possibly damaging 0.89
R5146:Grin2b UTSW 6 135,779,342 (GRCm38) missense probably damaging 1.00
R5318:Grin2b UTSW 6 135,733,918 (GRCm38) missense probably damaging 0.99
R5349:Grin2b UTSW 6 136,044,283 (GRCm38) missense possibly damaging 0.93
R5426:Grin2b UTSW 6 135,732,368 (GRCm38) missense probably damaging 1.00
R5438:Grin2b UTSW 6 135,736,306 (GRCm38) missense probably damaging 1.00
R5439:Grin2b UTSW 6 135,736,306 (GRCm38) missense probably damaging 1.00
R5440:Grin2b UTSW 6 135,736,306 (GRCm38) missense probably damaging 1.00
R5530:Grin2b UTSW 6 135,733,723 (GRCm38) missense probably benign 0.00
R5603:Grin2b UTSW 6 135,923,397 (GRCm38) missense probably damaging 1.00
R5657:Grin2b UTSW 6 135,733,087 (GRCm38) missense possibly damaging 0.48
R5788:Grin2b UTSW 6 135,740,964 (GRCm38) missense probably benign 0.24
R5941:Grin2b UTSW 6 135,736,373 (GRCm38) missense probably damaging 0.99
R6057:Grin2b UTSW 6 135,733,944 (GRCm38) missense possibly damaging 0.84
R6137:Grin2b UTSW 6 135,923,458 (GRCm38) missense possibly damaging 0.89
R6216:Grin2b UTSW 6 135,772,399 (GRCm38) missense probably damaging 1.00
R6309:Grin2b UTSW 6 135,733,027 (GRCm38) missense probably benign 0.00
R6316:Grin2b UTSW 6 135,780,279 (GRCm38) missense probably benign 0.00
R6419:Grin2b UTSW 6 135,740,967 (GRCm38) missense probably damaging 1.00
R6551:Grin2b UTSW 6 135,733,344 (GRCm38) missense probably damaging 1.00
R6612:Grin2b UTSW 6 135,740,998 (GRCm38) missense probably damaging 1.00
R6616:Grin2b UTSW 6 135,732,551 (GRCm38) missense probably benign
R6647:Grin2b UTSW 6 135,733,110 (GRCm38) missense probably damaging 1.00
R6806:Grin2b UTSW 6 135,774,828 (GRCm38) missense possibly damaging 0.84
R6976:Grin2b UTSW 6 135,780,200 (GRCm38) missense probably benign
R7033:Grin2b UTSW 6 135,923,038 (GRCm38) missense probably damaging 1.00
R7058:Grin2b UTSW 6 135,780,306 (GRCm38) missense probably damaging 0.97
R7144:Grin2b UTSW 6 135,733,476 (GRCm38) missense possibly damaging 0.50
R7190:Grin2b UTSW 6 135,732,948 (GRCm38) missense possibly damaging 0.46
R7238:Grin2b UTSW 6 135,780,251 (GRCm38) missense probably damaging 0.97
R7453:Grin2b UTSW 6 135,740,949 (GRCm38) missense possibly damaging 0.56
R7553:Grin2b UTSW 6 135,772,396 (GRCm38) missense possibly damaging 0.88
R7585:Grin2b UTSW 6 135,779,303 (GRCm38) missense probably damaging 0.99
R7615:Grin2b UTSW 6 135,923,364 (GRCm38) missense probably damaging 1.00
R7632:Grin2b UTSW 6 135,732,555 (GRCm38) missense probably benign 0.02
R7779:Grin2b UTSW 6 135,778,794 (GRCm38) nonsense probably null
R8058:Grin2b UTSW 6 135,733,227 (GRCm38) missense probably damaging 1.00
R8084:Grin2b UTSW 6 135,733,488 (GRCm38) missense probably benign 0.03
R8145:Grin2b UTSW 6 135,732,499 (GRCm38) missense probably benign 0.01
R8308:Grin2b UTSW 6 135,923,076 (GRCm38) missense probably damaging 0.99
R8357:Grin2b UTSW 6 135,732,199 (GRCm38) missense probably benign 0.00
R8379:Grin2b UTSW 6 135,922,969 (GRCm38) missense probably damaging 1.00
R8429:Grin2b UTSW 6 135,733,916 (GRCm38) missense probably damaging 1.00
R8457:Grin2b UTSW 6 135,732,199 (GRCm38) missense probably benign 0.00
R8746:Grin2b UTSW 6 135,922,987 (GRCm38) missense probably benign 0.02
R8925:Grin2b UTSW 6 135,772,341 (GRCm38) missense probably damaging 0.97
R8927:Grin2b UTSW 6 135,772,341 (GRCm38) missense probably damaging 0.97
R8963:Grin2b UTSW 6 136,044,009 (GRCm38) missense probably damaging 1.00
R9075:Grin2b UTSW 6 135,732,511 (GRCm38) frame shift probably null
R9076:Grin2b UTSW 6 135,732,511 (GRCm38) frame shift probably null
R9172:Grin2b UTSW 6 135,779,257 (GRCm38) missense possibly damaging 0.84
R9520:Grin2b UTSW 6 135,733,401 (GRCm38) missense probably damaging 1.00
R9740:Grin2b UTSW 6 135,922,870 (GRCm38) critical splice donor site probably null
RF001:Grin2b UTSW 6 136,044,240 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGGCACGTTCAAAGGAAAC -3'
(R):5'- TGGAAAGACAAGTCCCTGCAG -3'

Sequencing Primer
(F):5'- GGAAACTTAGCATAGCAGTCATTCC -3'
(R):5'- CCCTGCAGATGAAATACTATGTGTGG -3'
Posted On 2014-09-18