Incidental Mutation 'R8084:Grin2b'
ID 629514
Institutional Source Beutler Lab
Gene Symbol Grin2b
Ensembl Gene ENSMUSG00000030209
Gene Name glutamate receptor, ionotropic, NMDA2B (epsilon 2)
Synonyms GluRepsilon2, GluN2B, NR2B, NMDAR2B, Nmdar2b
MMRRC Submission 067517-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8084 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 135690231-136150509 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135710486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 1020 (K1020R)
Ref Sequence ENSEMBL: ENSMUSP00000062284 (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: K1020R

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000062284
Gene: ENSMUSG00000030209
AA Change: K1020R

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: K1020R

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000107536
Gene: ENSMUSG00000030209
AA Change: K1020R

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: 99.8%
  • 3x: 99.7%
  • 10x: 98.9%
  • 20x: 96.2%
Validation Efficiency 100% (75/75)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T A 2: 25,323,979 (GRCm39) Y190N probably benign Het
Acsl3 G A 1: 78,669,844 (GRCm39) D238N probably damaging Het
Acss1 T A 2: 150,484,701 (GRCm39) I181F probably damaging Het
Ano5 A G 7: 51,229,287 (GRCm39) I610V probably benign Het
Anxa6 A T 11: 54,894,834 (GRCm39) F256I probably damaging Het
Ash2l A G 8: 26,321,322 (GRCm39) S273P probably benign Het
Baz2b T G 2: 59,792,580 (GRCm39) E516A probably benign Het
Bbs2 G T 8: 94,814,056 (GRCm39) D187E probably damaging Het
Cacna1b T A 2: 24,575,808 (GRCm39) M747L probably benign Het
Cacna2d4 C A 6: 119,277,313 (GRCm39) D675E probably damaging Het
Calcr G A 6: 3,687,615 (GRCm39) T461M probably benign Het
Catip A G 1: 74,403,515 (GRCm39) K126E probably damaging Het
Chga T C 12: 102,528,328 (GRCm39) I273T probably benign Het
Clasp2 G A 9: 113,676,823 (GRCm39) V185I probably benign Het
Cracr2a A G 6: 127,616,135 (GRCm39) N370S probably benign Het
Crygc A T 1: 65,110,981 (GRCm39) V102D probably benign Het
Ddx23 A G 15: 98,556,145 (GRCm39) S58P unknown Het
Dlgap5 C T 14: 47,645,298 (GRCm39) G281D probably benign Het
Dnah5 A T 15: 28,388,099 (GRCm39) Y3186F probably damaging Het
Dpp6 A C 5: 27,836,397 (GRCm39) I296L probably benign Het
Elfn2 C T 15: 78,556,660 (GRCm39) R629H probably damaging Het
Eml2 G T 7: 18,915,149 (GRCm39) probably null Het
Fitm1 T A 14: 55,813,906 (GRCm39) V134E probably damaging Het
Flnb A G 14: 7,907,243 (GRCm38) N1272S probably benign Het
Fuca1 G A 4: 135,662,114 (GRCm39) W347* probably null Het
Gabbr2 C T 4: 46,736,349 (GRCm39) probably null Het
Gls2 G A 10: 128,035,125 (GRCm39) R86H probably damaging Het
H2-DMb1 T A 17: 34,376,327 (GRCm39) W149R probably damaging Het
Herc1 T A 9: 66,383,217 (GRCm39) S3629R probably benign Het
Itih4 A T 14: 30,621,400 (GRCm39) N821I possibly damaging Het
Kmt2d A T 15: 98,739,945 (GRCm39) L4731Q unknown Het
Loxhd1 A T 18: 77,427,845 (GRCm39) I472F possibly damaging Het
Lrp2 C A 2: 69,339,713 (GRCm39) C1066F probably damaging Het
Mllt10 T A 2: 18,114,637 (GRCm39) F114I probably damaging Het
N4bp1 T C 8: 87,587,636 (GRCm39) E434G probably benign Het
N6amt1 T C 16: 87,151,228 (GRCm39) F30L probably damaging Het
Naca G A 10: 127,877,400 (GRCm39) V811I unknown Het
Nobox A C 6: 43,282,101 (GRCm39) I324S possibly damaging Het
Nup210l T C 3: 90,043,365 (GRCm39) S442P probably benign Het
Or6c2 A T 10: 129,362,809 (GRCm39) T238S probably damaging Het
Osbpl1a A T 18: 13,038,099 (GRCm39) L284Q probably damaging Het
Pals1 A T 12: 78,867,625 (GRCm39) Q336L probably benign Het
Pcdhb20 A C 18: 37,639,226 (GRCm39) Y584S possibly damaging Het
Pgpep1l A T 7: 67,887,519 (GRCm39) F27Y probably benign Het
Pik3cg T G 12: 32,245,687 (GRCm39) I854L probably benign Het
Pot1a C T 6: 25,771,535 (GRCm39) V229M possibly damaging Het
Prh1 C T 6: 132,548,822 (GRCm39) P110S unknown Het
Prkag3 C T 1: 74,786,366 (GRCm39) C193Y probably damaging Het
Prl2c5 T C 13: 13,360,539 (GRCm39) F69L probably benign Het
Ptprq T C 10: 107,444,294 (GRCm39) T1437A probably benign Het
Rabgap1 T C 2: 37,427,317 (GRCm39) Y633H probably damaging Het
Rad54l2 G A 9: 106,590,701 (GRCm39) T475I possibly damaging Het
Retreg1 C A 15: 25,969,885 (GRCm39) A130E probably benign Het
Rps6kb1 G T 11: 86,426,262 (GRCm39) H56N probably benign Het
Sars2 A G 7: 28,449,710 (GRCm39) H385R probably damaging Het
Sbpl T G 17: 24,172,244 (GRCm39) N225T unknown Het
Scml4 T C 10: 42,806,602 (GRCm39) probably null Het
Scrib G A 15: 75,937,940 (GRCm39) T302M probably benign Het
Sdk2 G A 11: 113,717,915 (GRCm39) T1483I possibly damaging Het
Sh3bgrl3 A G 4: 133,855,390 (GRCm39) S19P probably damaging Het
Slc10a6 C T 5: 103,760,327 (GRCm39) V223I probably benign Het
Slc4a3 A G 1: 75,532,589 (GRCm39) T950A probably benign Het
Spats2 A T 15: 99,064,961 (GRCm39) D9V possibly damaging Het
Sphk1 A T 11: 116,425,904 (GRCm39) probably null Het
Tex10 A T 4: 48,431,066 (GRCm39) S897R probably benign Het
Tmco3 T C 8: 13,353,873 (GRCm39) V395A probably damaging Het
Ttc7b A G 12: 100,350,432 (GRCm39) L478P probably damaging Het
Ubac2 T C 14: 122,220,717 (GRCm39) M184T probably benign Het
Wdr95 T C 5: 149,511,598 (GRCm39) S433P probably damaging Het
Zfp202 T A 9: 40,122,538 (GRCm39) H433Q probably benign Het
Zfp526 G T 7: 24,924,737 (GRCm39) R332L probably damaging Het
Other mutations in Grin2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Grin2b APN 6 135,713,329 (GRCm39) missense possibly damaging 0.55
IGL00835:Grin2b APN 6 135,710,568 (GRCm39) missense probably damaging 1.00
IGL01401:Grin2b APN 6 135,713,361 (GRCm39) missense probably damaging 1.00
IGL01523:Grin2b APN 6 136,021,263 (GRCm39) missense probably null 0.99
IGL01719:Grin2b APN 6 135,710,379 (GRCm39) missense probably damaging 0.97
IGL01907:Grin2b APN 6 135,710,738 (GRCm39) missense probably damaging 1.00
IGL01996:Grin2b APN 6 135,709,584 (GRCm39) missense probably damaging 1.00
IGL02309:Grin2b APN 6 135,713,470 (GRCm39) missense probably damaging 1.00
IGL02312:Grin2b APN 6 135,716,088 (GRCm39) missense probably damaging 1.00
IGL02409:Grin2b APN 6 136,020,906 (GRCm39) missense possibly damaging 0.89
IGL02527:Grin2b APN 6 135,900,389 (GRCm39) missense probably damaging 1.00
IGL02535:Grin2b APN 6 135,756,367 (GRCm39) missense possibly damaging 0.70
IGL02570:Grin2b APN 6 135,899,996 (GRCm39) missense probably damaging 1.00
IGL02702:Grin2b APN 6 135,716,130 (GRCm39) missense probably damaging 0.99
IGL03001:Grin2b APN 6 135,716,113 (GRCm39) missense probably damaging 1.00
IGL03274:Grin2b APN 6 135,757,253 (GRCm39) missense possibly damaging 0.90
R0055:Grin2b UTSW 6 135,900,201 (GRCm39) missense probably benign
R0055:Grin2b UTSW 6 135,900,201 (GRCm39) missense probably benign
R0164:Grin2b UTSW 6 135,755,646 (GRCm39) splice site probably benign
R0194:Grin2b UTSW 6 135,756,303 (GRCm39) missense probably damaging 1.00
R0594:Grin2b UTSW 6 135,710,927 (GRCm39) missense probably damaging 1.00
R1434:Grin2b UTSW 6 135,820,193 (GRCm39) missense probably benign 0.04
R1928:Grin2b UTSW 6 136,021,044 (GRCm39) missense probably damaging 1.00
R1942:Grin2b UTSW 6 135,709,730 (GRCm39) missense possibly damaging 0.93
R1996:Grin2b UTSW 6 136,021,209 (GRCm39) missense possibly damaging 0.52
R2002:Grin2b UTSW 6 135,710,243 (GRCm39) missense probably damaging 1.00
R2020:Grin2b UTSW 6 135,710,894 (GRCm39) missense probably benign 0.12
R2103:Grin2b UTSW 6 135,757,138 (GRCm39) missense probably benign 0.02
R2127:Grin2b UTSW 6 135,755,698 (GRCm39) missense probably benign 0.03
R2495:Grin2b UTSW 6 135,710,180 (GRCm39) missense probably damaging 1.00
R2656:Grin2b UTSW 6 135,710,427 (GRCm39) missense probably damaging 1.00
R2847:Grin2b UTSW 6 135,717,951 (GRCm39) missense probably damaging 1.00
R2866:Grin2b UTSW 6 135,710,637 (GRCm39) missense probably damaging 1.00
R2867:Grin2b UTSW 6 135,710,637 (GRCm39) missense probably damaging 1.00
R2867:Grin2b UTSW 6 135,710,637 (GRCm39) missense probably damaging 1.00
R3196:Grin2b UTSW 6 135,709,453 (GRCm39) small deletion probably benign
R3418:Grin2b UTSW 6 135,820,108 (GRCm39) missense probably benign 0.02
R3808:Grin2b UTSW 6 135,900,269 (GRCm39) missense probably damaging 0.99
R4028:Grin2b UTSW 6 135,713,433 (GRCm39) missense probably damaging 1.00
R4602:Grin2b UTSW 6 135,755,739 (GRCm39) missense probably damaging 1.00
R4624:Grin2b UTSW 6 135,710,823 (GRCm39) missense probably damaging 0.99
R4677:Grin2b UTSW 6 135,751,870 (GRCm39) missense probably benign 0.13
R4744:Grin2b UTSW 6 135,755,697 (GRCm39) missense probably damaging 1.00
R5020:Grin2b UTSW 6 135,710,405 (GRCm39) missense probably benign 0.01
R5051:Grin2b UTSW 6 135,756,393 (GRCm39) missense possibly damaging 0.84
R5105:Grin2b UTSW 6 135,709,439 (GRCm39) missense probably benign 0.03
R5125:Grin2b UTSW 6 135,900,297 (GRCm39) missense possibly damaging 0.89
R5146:Grin2b UTSW 6 135,756,340 (GRCm39) missense probably damaging 1.00
R5318:Grin2b UTSW 6 135,710,916 (GRCm39) missense probably damaging 0.99
R5349:Grin2b UTSW 6 136,021,281 (GRCm39) missense possibly damaging 0.93
R5426:Grin2b UTSW 6 135,709,366 (GRCm39) missense probably damaging 1.00
R5438:Grin2b UTSW 6 135,713,304 (GRCm39) missense probably damaging 1.00
R5439:Grin2b UTSW 6 135,713,304 (GRCm39) missense probably damaging 1.00
R5440:Grin2b UTSW 6 135,713,304 (GRCm39) missense probably damaging 1.00
R5530:Grin2b UTSW 6 135,710,721 (GRCm39) missense probably benign 0.00
R5603:Grin2b UTSW 6 135,900,395 (GRCm39) missense probably damaging 1.00
R5657:Grin2b UTSW 6 135,710,085 (GRCm39) missense possibly damaging 0.48
R5788:Grin2b UTSW 6 135,717,962 (GRCm39) missense probably benign 0.24
R5941:Grin2b UTSW 6 135,713,371 (GRCm39) missense probably damaging 0.99
R6057:Grin2b UTSW 6 135,710,942 (GRCm39) missense possibly damaging 0.84
R6137:Grin2b UTSW 6 135,900,456 (GRCm39) missense possibly damaging 0.89
R6216:Grin2b UTSW 6 135,749,397 (GRCm39) missense probably damaging 1.00
R6309:Grin2b UTSW 6 135,710,025 (GRCm39) missense probably benign 0.00
R6316:Grin2b UTSW 6 135,757,277 (GRCm39) missense probably benign 0.00
R6419:Grin2b UTSW 6 135,717,965 (GRCm39) missense probably damaging 1.00
R6551:Grin2b UTSW 6 135,710,342 (GRCm39) missense probably damaging 1.00
R6612:Grin2b UTSW 6 135,717,996 (GRCm39) missense probably damaging 1.00
R6616:Grin2b UTSW 6 135,709,549 (GRCm39) missense probably benign
R6647:Grin2b UTSW 6 135,710,108 (GRCm39) missense probably damaging 1.00
R6806:Grin2b UTSW 6 135,751,826 (GRCm39) missense possibly damaging 0.84
R6976:Grin2b UTSW 6 135,757,198 (GRCm39) missense probably benign
R7033:Grin2b UTSW 6 135,900,036 (GRCm39) missense probably damaging 1.00
R7058:Grin2b UTSW 6 135,757,304 (GRCm39) missense probably damaging 0.97
R7144:Grin2b UTSW 6 135,710,474 (GRCm39) missense possibly damaging 0.50
R7190:Grin2b UTSW 6 135,709,946 (GRCm39) missense possibly damaging 0.46
R7238:Grin2b UTSW 6 135,757,249 (GRCm39) missense probably damaging 0.97
R7453:Grin2b UTSW 6 135,717,947 (GRCm39) missense possibly damaging 0.56
R7553:Grin2b UTSW 6 135,749,394 (GRCm39) missense possibly damaging 0.88
R7585:Grin2b UTSW 6 135,756,301 (GRCm39) missense probably damaging 0.99
R7615:Grin2b UTSW 6 135,900,362 (GRCm39) missense probably damaging 1.00
R7632:Grin2b UTSW 6 135,709,553 (GRCm39) missense probably benign 0.02
R7779:Grin2b UTSW 6 135,755,792 (GRCm39) nonsense probably null
R8058:Grin2b UTSW 6 135,710,225 (GRCm39) missense probably damaging 1.00
R8145:Grin2b UTSW 6 135,709,497 (GRCm39) missense probably benign 0.01
R8308:Grin2b UTSW 6 135,900,074 (GRCm39) missense probably damaging 0.99
R8357:Grin2b UTSW 6 135,709,197 (GRCm39) missense probably benign 0.00
R8379:Grin2b UTSW 6 135,899,967 (GRCm39) missense probably damaging 1.00
R8429:Grin2b UTSW 6 135,710,914 (GRCm39) missense probably damaging 1.00
R8457:Grin2b UTSW 6 135,709,197 (GRCm39) missense probably benign 0.00
R8746:Grin2b UTSW 6 135,899,985 (GRCm39) missense probably benign 0.02
R8925:Grin2b UTSW 6 135,749,339 (GRCm39) missense probably damaging 0.97
R8927:Grin2b UTSW 6 135,749,339 (GRCm39) missense probably damaging 0.97
R8963:Grin2b UTSW 6 136,021,007 (GRCm39) missense probably damaging 1.00
R9075:Grin2b UTSW 6 135,709,509 (GRCm39) frame shift probably null
R9076:Grin2b UTSW 6 135,709,509 (GRCm39) frame shift probably null
R9172:Grin2b UTSW 6 135,756,255 (GRCm39) missense possibly damaging 0.84
R9520:Grin2b UTSW 6 135,710,399 (GRCm39) missense probably damaging 1.00
R9740:Grin2b UTSW 6 135,899,868 (GRCm39) critical splice donor site probably null
RF001:Grin2b UTSW 6 136,021,238 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGCCCTCGATGTTGCCATAG -3'
(R):5'- AGCTTCACGCATTCAGACTGC -3'

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