Incidental Mutation 'R0194:Grin2b'
ID 23299
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 038453-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0194 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 135713233-136173511 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135779305 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 474 (F474S)
Ref Sequence ENSEMBL: ENSMUSP00000107536 (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: F474S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062284
Gene: ENSMUSG00000030209
AA Change: F474S

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: F474S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107536
Gene: ENSMUSG00000030209
AA Change: F474S

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
Meta Mutation Damage Score 0.9064 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 91.4%
  • 20x: 70.1%
Validation Efficiency 91% (439/482)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik T A 4: 35,197,207 (GRCm38) D122V probably damaging Het
4930553M12Rik T A 4: 88,868,243 (GRCm38) D46V unknown Het
Abcb9 A G 5: 124,077,295 (GRCm38) V461A probably damaging Het
Ackr4 T A 9: 104,099,480 (GRCm38) L89F probably benign Het
Acsf2 T C 11: 94,561,370 (GRCm38) T449A probably benign Het
Acsl4 C G X: 142,333,718 (GRCm38) G489R probably damaging Het
Actl6a T A 3: 32,725,320 (GRCm38) I399N probably damaging Het
Adamts19 G A 18: 59,011,148 (GRCm38) C934Y probably null Het
Adsl A G 15: 80,961,360 (GRCm38) E40G possibly damaging Het
AI481877 T A 4: 59,066,534 (GRCm38) probably benign Het
Alppl2 T G 1: 87,088,743 (GRCm38) D203A probably damaging Het
Asb10 C A 5: 24,537,932 (GRCm38) A268S probably benign Het
Atp9a T C 2: 168,643,885 (GRCm38) S832G probably benign Het
Bckdha A T 7: 25,631,450 (GRCm38) I297N probably damaging Het
Blm G A 7: 80,464,946 (GRCm38) probably benign Het
Cacna1h A G 17: 25,380,924 (GRCm38) probably benign Het
Camsap2 G A 1: 136,292,948 (GRCm38) Q298* probably null Het
Ccdc38 A T 10: 93,565,912 (GRCm38) K145* probably null Het
Cfap45 C T 1: 172,541,327 (GRCm38) T434M probably benign Het
Cfap54 A T 10: 93,034,662 (GRCm38) probably benign Het
Clcn6 G A 4: 148,012,756 (GRCm38) P618L probably damaging Het
Copg1 T C 6: 87,904,197 (GRCm38) probably benign Het
Dctd T A 8: 48,112,078 (GRCm38) N79K probably benign Het
Dgkq A G 5: 108,654,644 (GRCm38) probably benign Het
Dntt A T 19: 41,038,970 (GRCm38) T159S possibly damaging Het
Doc2g G A 19: 4,003,656 (GRCm38) R29Q probably benign Het
Dsg3 A G 18: 20,540,142 (GRCm38) T957A probably damaging Het
Eif3c T A 7: 126,558,623 (GRCm38) probably benign Het
Ephb3 T A 16: 21,218,109 (GRCm38) D107E probably benign Het
Esrrb A T 12: 86,470,481 (GRCm38) D108V probably damaging Het
Exo1 A G 1: 175,892,030 (GRCm38) K214E probably damaging Het
Fam186a G A 15: 99,941,763 (GRCm38) T2200I possibly damaging Het
Fam227a C T 15: 79,640,669 (GRCm38) W194* probably null Het
Foxn4 A G 5: 114,259,748 (GRCm38) probably null Het
Gabbr2 T C 4: 46,787,565 (GRCm38) K366R possibly damaging Het
Garem2 T A 5: 30,113,930 (GRCm38) V130E probably damaging Het
H2-M10.6 G T 17: 36,814,042 (GRCm38) V284F probably damaging Het
Helz2 C A 2: 181,232,759 (GRCm38) G1981C probably damaging Het
Hivep1 G T 13: 42,155,435 (GRCm38) V384F probably damaging Het
Hmox1 A G 8: 75,097,108 (GRCm38) T135A probably damaging Het
Hpse T C 5: 100,719,512 (GRCm38) D28G probably benign Het
Itm2b G T 14: 73,364,618 (GRCm38) D213E probably benign Het
Jakmip1 T A 5: 37,134,283 (GRCm38) M692K possibly damaging Het
Kdm3a T C 6: 71,624,594 (GRCm38) Q151R probably null Het
Limch1 C A 5: 66,999,273 (GRCm38) A517E probably benign Het
Lrit1 T A 14: 37,061,720 (GRCm38) L335Q probably damaging Het
Lrrc37a A G 11: 103,499,790 (GRCm38) V1603A possibly damaging Het
Mbtps1 T A 8: 119,535,369 (GRCm38) N347I probably damaging Het
Mier1 A T 4: 103,139,519 (GRCm38) probably null Het
Mt2 A T 8: 94,172,848 (GRCm38) M1L probably damaging Het
Mug1 A T 6: 121,840,107 (GRCm38) E45V probably damaging Het
Mybphl A G 3: 108,374,168 (GRCm38) K67E probably benign Het
Myh4 A G 11: 67,252,336 (GRCm38) K1030R probably damaging Het
Myl3 T A 9: 110,769,121 (GRCm38) D176E probably benign Het
Ncapg2 A G 12: 116,420,683 (GRCm38) probably null Het
Ndor1 T C 2: 25,248,706 (GRCm38) probably null Het
Nedd4 T G 9: 72,670,053 (GRCm38) N53K possibly damaging Het
Nek11 C A 9: 105,392,952 (GRCm38) A24S probably benign Het
Nudt19 G T 7: 35,551,514 (GRCm38) P267T probably benign Het
Olfml2b T C 1: 170,681,115 (GRCm38) M514T possibly damaging Het
Olfr304 A T 7: 86,386,374 (GRCm38) C95* probably null Het
Olfr424 A T 1: 174,136,761 (GRCm38) T6S probably benign Het
Olfr556 A G 7: 102,670,199 (GRCm38) D93G probably benign Het
Olfr699 C A 7: 106,790,823 (GRCm38) M59I probably benign Het
P3h1 T A 4: 119,237,952 (GRCm38) F302Y probably damaging Het
Pappa2 T A 1: 158,765,101 (GRCm38) probably benign Het
Pex2 A C 3: 5,561,364 (GRCm38) H128Q probably benign Het
Phf11d A C 14: 59,352,731 (GRCm38) L214R probably damaging Het
Plcg2 G A 8: 117,573,397 (GRCm38) probably benign Het
Ppargc1b A C 18: 61,307,945 (GRCm38) L634R possibly damaging Het
Prune1 A T 3: 95,262,360 (GRCm38) I177N probably damaging Het
Puf60 T C 15: 76,070,485 (GRCm38) D496G probably damaging Het
Rasl11b A G 5: 74,196,163 (GRCm38) probably null Het
Sdr42e1 A T 8: 117,663,109 (GRCm38) F264L probably damaging Het
Sec24b A T 3: 129,984,165 (GRCm38) probably null Het
Sgta G T 10: 81,051,059 (GRCm38) P79T probably benign Het
Shisa9 C T 16: 11,984,954 (GRCm38) T125M probably damaging Het
Slc12a2 A G 18: 57,930,211 (GRCm38) D921G probably damaging Het
Slc13a5 T A 11: 72,262,130 (GRCm38) I42L possibly damaging Het
Slc13a5 C T 11: 72,245,233 (GRCm38) V494I probably benign Het
Spire2 G A 8: 123,363,011 (GRCm38) probably benign Het
Sptbn4 G A 7: 27,404,911 (GRCm38) R962C probably benign Het
St8sia5 G A 18: 77,254,724 (GRCm38) V377I probably benign Het
Stag2 T G X: 42,206,137 (GRCm38) probably benign Het
Syne1 C A 10: 5,424,311 (GRCm38) M165I probably benign Het
Synm C A 7: 67,734,924 (GRCm38) V997L probably damaging Het
Tacc1 A G 8: 25,182,376 (GRCm38) S279P probably benign Het
Tbc1d10a T C 11: 4,212,901 (GRCm38) probably null Het
Tbc1d19 A G 5: 53,860,156 (GRCm38) T302A probably damaging Het
Tecpr1 A C 5: 144,218,517 (GRCm38) N74K probably damaging Het
Tmem120a T C 5: 135,742,398 (GRCm38) E28G possibly damaging Het
Tnfrsf1b A T 4: 145,224,812 (GRCm38) I186N probably benign Het
Trim55 A G 3: 19,661,861 (GRCm38) D195G probably benign Het
Trpm3 G T 19: 22,715,356 (GRCm38) probably null Het
Ttc39a T A 4: 109,444,179 (GRCm38) S571T probably benign Het
Vwf T G 6: 125,643,297 (GRCm38) I1646S probably benign Het
Wbp2nl T C 15: 82,314,282 (GRCm38) F340S possibly damaging Het
Yeats2 T C 16: 20,152,969 (GRCm38) M1T probably null Het
Zfp236 T A 18: 82,656,987 (GRCm38) E460V probably damaging Het
Zfp277 G A 12: 40,378,877 (GRCm38) probably benign Het
Zfp975 T A 7: 42,662,492 (GRCm38) K232N probably benign Het
Zxdc T C 6: 90,372,537 (GRCm38) 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
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
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'- TGGGCACCATGAATACCCTTCACC -3'
(R):5'- AGCTGTGATATGGTTCAGGATACCGAG -3'

Sequencing Primer
(F):5'- tgactatgaggcagcacattac -3'
(R):5'- AATACCACAGTTCTAGGCTTGTTC -3'
Posted On 2013-04-16