Incidental Mutation 'R7585:Grin2b'
ID 587048
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 045635-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7585 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 135713233-136173511 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 135779303 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 475 (T475S)
Ref Sequence ENSEMBL: ENSMUSP00000062284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053880] [ENSMUST00000111905]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000053880
AA Change: T475S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000062284
Gene: ENSMUSG00000030209
AA Change: T475S

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 damaging
Transcript: ENSMUST00000111905
AA Change: T475S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107536
Gene: ENSMUSG00000030209
AA Change: T475S

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,953,353 (GRCm38) T64A probably benign Het
A930009A15Rik T A 10: 115,578,325 (GRCm38) V52D unknown Het
Acacb A G 5: 114,246,012 (GRCm38) I2201V probably damaging Het
Aco2 A C 15: 81,872,484 (GRCm38) probably benign Het
Acod1 C T 14: 103,054,741 (GRCm38) Q234* probably null Het
Actr6 T C 10: 89,725,796 (GRCm38) S163G probably benign Het
Agmat T C 4: 141,749,745 (GRCm38) V154A probably benign Het
Agrn T C 4: 156,170,674 (GRCm38) N1584S probably benign Het
Alg6 A T 4: 99,738,134 (GRCm38) S60C probably damaging Het
Ap5s1 T C 2: 131,212,562 (GRCm38) F98L probably damaging Het
Atp6v1f G A 6: 29,467,928 (GRCm38) V38I possibly damaging Het
B3gnt3 T C 8: 71,693,328 (GRCm38) T186A probably damaging Het
Brpf1 T C 6: 113,315,046 (GRCm38) V351A possibly damaging Het
Cacna1g A G 11: 94,473,542 (GRCm38) S26P probably benign Het
Camta1 G A 4: 151,144,830 (GRCm38) S515L probably damaging Het
Ccdc122 C A 14: 77,091,699 (GRCm38) A64E probably damaging Het
Ccdc89 C A 7: 90,427,302 (GRCm38) T240K possibly damaging Het
Cercam T C 2: 29,881,731 (GRCm38) L521P probably damaging Het
Cfb T C 17: 34,857,761 (GRCm38) N561S probably benign Het
Clk3 T C 9: 57,761,836 (GRCm38) E159G probably damaging Het
Cntf A T 19: 12,764,223 (GRCm38) L91* probably null Het
Cntn4 T A 6: 106,489,611 (GRCm38) I158N probably damaging Het
Cog5 T A 12: 31,760,889 (GRCm38) I194K probably damaging Het
Col22a1 T A 15: 71,892,205 (GRCm38) D66V probably damaging Het
Crat C T 2: 30,404,565 (GRCm38) R497Q probably benign Het
Csmd3 T C 15: 48,622,075 (GRCm38) T145A possibly damaging Het
D130043K22Rik A G 13: 24,885,585 (GRCm38) I876V probably benign Het
Dlec1 T C 9: 119,142,751 (GRCm38) S1335P probably benign Het
Dnah5 A T 15: 28,401,868 (GRCm38) T3392S probably benign Het
Dnal1 A G 12: 84,124,493 (GRCm38) K21E probably benign Het
Dspp T C 5: 104,175,525 (GRCm38) V178A possibly damaging Het
Dst A G 1: 34,114,015 (GRCm38) D119G possibly damaging Het
Dyrk4 T A 6: 126,890,044 (GRCm38) I342F probably damaging Het
Eif3b A G 5: 140,440,002 (GRCm38) D649G probably damaging Het
Exoc7 T C 11: 116,300,298 (GRCm38) D259G probably benign Het
Fancm T C 12: 65,106,247 (GRCm38) V1159A possibly damaging Het
Fat3 T C 9: 15,998,262 (GRCm38) D2148G probably benign Het
Fdps C A 3: 89,093,806 (GRCm38) R300L probably benign Het
Gfm2 T C 13: 97,179,032 (GRCm38) L736P probably benign Het
Gm11397 G T 13: 33,404,316 (GRCm38) D295Y probably benign Het
Gm5538 C A 3: 59,743,722 (GRCm38) D88E possibly damaging Het
H2-M3 T G 17: 37,270,708 (GRCm38) L87R probably damaging Het
Hao1 T A 2: 134,501,156 (GRCm38) I272F probably damaging Het
Hapln2 C T 3: 88,022,673 (GRCm38) G299S probably damaging Het
Hdac3 A T 18: 37,945,355 (GRCm38) I154N probably damaging Het
Herc1 A G 9: 66,445,547 (GRCm38) D2105G probably damaging Het
Kcna2 T C 3: 107,105,342 (GRCm38) F413S probably damaging Het
Kctd13 A G 7: 126,929,286 (GRCm38) T78A possibly damaging Het
Kif20a A G 18: 34,625,538 (GRCm38) D20G probably benign Het
Kif26b A T 1: 178,916,496 (GRCm38) I1386F probably benign Het
Klc4 T A 17: 46,631,884 (GRCm38) M585L probably benign Het
Lrp4 A G 2: 91,492,588 (GRCm38) Y1139C probably damaging Het
Lrp5 A T 19: 3,604,094 (GRCm38) I1111N possibly damaging Het
Lrriq1 A T 10: 103,214,946 (GRCm38) D648E possibly damaging Het
Mfsd7a T C 5: 108,448,819 (GRCm38) T16A probably benign Het
Mmp2 G A 8: 92,836,936 (GRCm38) G346D probably damaging Het
Mrgpra4 T A 7: 47,981,629 (GRCm38) I75L probably benign Het
Muc4 T A 16: 32,765,702 (GRCm38) V537D Het
Myh2 T A 11: 67,179,411 (GRCm38) probably null Het
Myrf T C 19: 10,216,727 (GRCm38) T487A probably damaging Het
Nalcn A T 14: 123,515,638 (GRCm38) L312H probably damaging Het
Nop14 G A 5: 34,644,780 (GRCm38) P560L probably damaging Het
Nufip1 C G 14: 76,110,987 (GRCm38) P19A probably benign Het
Olfr1263 A T 2: 90,015,049 (GRCm38) I40F probably damaging Het
Olfr1274-ps T A 2: 90,401,023 (GRCm38) Y121N probably damaging Het
Olfr1415 A G 1: 92,491,320 (GRCm38) V145A probably benign Het
Olfr293 T C 7: 86,664,672 (GRCm38) *337Q probably null Het
Olfr503 C A 7: 108,545,391 (GRCm38) P289T probably damaging Het
Olfr611 C A 7: 103,517,959 (GRCm38) V142L possibly damaging Het
Olfr633 A G 7: 103,947,400 (GRCm38) N278S probably benign Het
Olfr869 T C 9: 20,129,011 (GRCm38) Het
Oosp3 G T 19: 11,700,958 (GRCm38) M99I probably benign Het
Panx2 A G 15: 89,067,966 (GRCm38) K212R probably damaging Het
Paxip1 A C 5: 27,772,004 (GRCm38) H353Q unknown Het
Pbx4 C A 8: 69,832,825 (GRCm38) D39E probably damaging Het
Phc2 G A 4: 128,711,139 (GRCm38) A223T probably benign Het
Plcl1 A G 1: 55,406,449 (GRCm38) D21G probably benign Het
Plec G A 15: 76,173,432 (GRCm38) R4102W probably damaging Het
Plekhh2 A G 17: 84,577,180 (GRCm38) Y774C probably benign Het
Polr2a A T 11: 69,740,002 (GRCm38) Y1197N probably damaging Het
Psmg4 A T 13: 34,163,212 (GRCm38) H46L probably benign Het
Ptprk A G 10: 28,560,088 (GRCm38) Y815C probably damaging Het
Qrich2 T C 11: 116,455,721 (GRCm38) I1426V probably benign Het
Rbm43 T C 2: 51,926,751 (GRCm38) D68G probably benign Het
Rgs6 T C 12: 83,106,870 (GRCm38) S360P probably damaging Het
Rp1l1 T G 14: 64,030,139 (GRCm38) L1058R probably damaging Het
Rreb1 A G 13: 37,893,898 (GRCm38) S29G probably benign Het
Scube1 C A 15: 83,638,787 (GRCm38) R284L possibly damaging Het
Slc13a3 T C 2: 165,430,322 (GRCm38) Q267R probably benign Het
Slc5a1 A T 5: 33,160,944 (GRCm38) N647I probably damaging Het
Sphk2 A T 7: 45,711,582 (GRCm38) S333T probably benign Het
Sptan1 A G 2: 30,000,056 (GRCm38) D1050G probably benign Het
Tdo2 G T 3: 81,962,758 (GRCm38) A269E probably damaging Het
Tnc A T 4: 64,020,411 (GRCm38) C64S probably damaging Het
Trim47 T A 11: 116,107,557 (GRCm38) E360D probably damaging Het
Trp53i13 T A 11: 77,508,303 (GRCm38) T374S possibly damaging Het
Try5 A G 6: 41,311,814 (GRCm38) L157P probably benign Het
Ttn T C 2: 76,943,323 (GRCm38) Y2318C unknown Het
Ttn A T 2: 76,747,832 (GRCm38) V24239D probably damaging Het
Txn1 T C 4: 57,945,199 (GRCm38) D68G possibly damaging Het
Upf3a A G 8: 13,787,418 (GRCm38) D121G probably damaging Het
Vmn2r114 T C 17: 23,291,265 (GRCm38) Y747C probably damaging Het
Vmn2r68 A G 7: 85,232,379 (GRCm38) W498R probably damaging Het
Vwa8 A C 14: 78,982,234 (GRCm38) probably null Het
Zp2 A T 7: 120,133,944 (GRCm38) F591L probably damaging 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
R2103:Grin2b UTSW 6 135,780,140 (GRCm38) missense probably benign 0.02
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
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'- GGCAAAATTCTCATGGCCCAG -3'
(R):5'- AAATTCTACTGTGGGGATGAGG -3'

Sequencing Primer
(F):5'- TTCAGCAATTTGGCCAGCAG -3'
(R):5'- TTGGTGTTGGAGATTTAATGAAAAAG -3'
Posted On 2019-10-24