Incidental Mutation 'R5426:Grin2b'
ID 426880
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 042992-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5426 (G1)
Quality Score 144
Status Validated
Chromosome 6
Chromosomal Location 135713233-136173511 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 135732368 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 1393 (Q1393H)
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: Q1393H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062284
Gene: ENSMUSG00000030209
AA Change: Q1393H

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: Q1393H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107536
Gene: ENSMUSG00000030209
AA Change: Q1393H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136027
Meta Mutation Damage Score 0.3210 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 97% (85/88)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,294,003 (GRCm38) H122L probably damaging Het
9330182O14Rik G A 15: 40,148,537 (GRCm38) D91N unknown Het
9330182O14Rik G A 15: 40,148,536 (GRCm38) M90I unknown Het
Abca13 T A 11: 9,290,722 (GRCm38) S862T probably damaging Het
Acyp2 C T 11: 30,506,354 (GRCm38) E98K possibly damaging Het
Adgb C A 10: 10,350,260 (GRCm38) A1405S probably benign Het
Adpgk T A 9: 59,297,549 (GRCm38) V86E probably damaging Het
Agfg2 G C 5: 137,667,758 (GRCm38) P80A probably damaging Het
Akap11 G A 14: 78,498,864 (GRCm38) Q1829* probably null Het
Aldh1l1 G A 6: 90,559,299 (GRCm38) R62Q probably benign Het
Amd1 G T 10: 40,290,187 (GRCm38) D265E probably damaging Het
Aox4 A T 1: 58,220,094 (GRCm38) Q106L probably damaging Het
Arap2 A T 5: 62,642,816 (GRCm38) N1289K probably benign Het
Arhgef12 T C 9: 42,986,584 (GRCm38) S874G probably damaging Het
Ccdc166 T C 15: 75,982,096 (GRCm38) Q45R possibly damaging Het
Cdc45 C T 16: 18,795,897 (GRCm38) R205H probably damaging Het
Cdk14 A G 5: 4,888,975 (GRCm38) S388P possibly damaging Het
Chgb A T 2: 132,793,533 (GRCm38) Q465L possibly damaging Het
Commd9 T A 2: 101,898,875 (GRCm38) W109R probably damaging Het
Cspg4b G A 13: 113,369,053 (GRCm38) V2239I probably benign Het
Cyp2b9 T C 7: 26,187,655 (GRCm38) V163A probably benign Het
Dcpp2 T A 17: 23,899,313 (GRCm38) H27Q possibly damaging Het
Ddn T A 15: 98,806,466 (GRCm38) E315V possibly damaging Het
Defb29 C A 2: 152,538,948 (GRCm38) C47F probably damaging Het
Dnah7b T C 1: 46,242,206 (GRCm38) M2809T possibly damaging Het
Dock4 A T 12: 40,745,745 (GRCm38) I854F probably damaging Het
Dsg4 T C 18: 20,458,484 (GRCm38) Y427H probably damaging Het
E130114P18Rik C T 4: 97,690,670 (GRCm38) A23T unknown Het
Flacc1 T A 1: 58,666,886 (GRCm38) K275* probably null Het
Gemin5 A G 11: 58,125,287 (GRCm38) S1297P probably benign Het
Gm10309 A C 17: 86,498,733 (GRCm38) probably benign Het
Gpatch11 T A 17: 78,841,234 (GRCm38) S155R possibly damaging Het
Heatr5b C T 17: 78,773,713 (GRCm38) C1370Y probably damaging Het
Hmcn2 C T 2: 31,336,544 (GRCm38) T177I possibly damaging Het
Ildr1 A T 16: 36,709,619 (GRCm38) I123F probably damaging Het
Kalrn A T 16: 34,262,653 (GRCm38) V644D probably damaging Het
Kifap3 A G 1: 163,779,871 (GRCm38) M1V probably null Het
Klhl11 A G 11: 100,464,116 (GRCm38) L293P probably damaging Het
Klrc3 G A 6: 129,641,550 (GRCm38) S98L probably benign Het
Lrrc37 A T 11: 103,620,760 (GRCm38) H127Q unknown Het
Med12l G A 3: 59,248,722 (GRCm38) M1220I probably damaging Het
Ms4a7 C T 19: 11,325,802 (GRCm38) probably null Het
Mybpc2 A G 7: 44,509,829 (GRCm38) V599A probably benign Het
Naalad2 T C 9: 18,347,519 (GRCm38) N487D probably benign Het
Nat8f7 T G 6: 85,707,823 (GRCm38) S12R probably benign Het
Nefm T A 14: 68,120,066 (GRCm38) probably benign Het
Nlrp5 T C 7: 23,418,201 (GRCm38) V450A probably damaging Het
Nps G A 7: 135,268,647 (GRCm38) probably null Het
Or13c7d A G 4: 43,770,168 (GRCm38) I281T probably benign Het
Or2ag16 C A 7: 106,752,566 (GRCm38) S274I probably benign Het
Or4a74 T C 2: 89,609,739 (GRCm38) Y121C probably damaging Het
Or4b13 T A 2: 90,252,611 (GRCm38) K126* probably null Het
Or5e1 T C 7: 108,755,717 (GRCm38) L287P possibly damaging Het
Or5h24 G T 16: 59,098,302 (GRCm38) P230Q possibly damaging Het
Or5p67 T C 7: 108,322,810 (GRCm38) N289D probably damaging Het
Oxct2a C A 4: 123,322,713 (GRCm38) G292W possibly damaging Het
Pramel32 T A 4: 88,629,410 (GRCm38) probably benign Het
Prr27 T C 5: 87,850,885 (GRCm38) probably benign Het
Ptx3 T C 3: 66,220,722 (GRCm38) M68T probably damaging Het
Rufy1 A G 11: 50,421,734 (GRCm38) L131S probably damaging Het
Septin7 T A 9: 25,286,690 (GRCm38) I100N possibly damaging Het
Sgms2 T C 3: 131,341,797 (GRCm38) I143V probably benign Het
Slc25a34 A G 4: 141,623,566 (GRCm38) V44A probably damaging Het
Slc28a3 T A 13: 58,563,154 (GRCm38) D518V probably damaging Het
Slc6a7 C T 18: 61,003,236 (GRCm38) probably null Het
Slco4a1 C A 2: 180,471,235 (GRCm38) A420D possibly damaging Het
Smap1 T C 1: 23,849,390 (GRCm38) T180A probably benign Het
Specc1l T C 10: 75,267,550 (GRCm38) S920P probably benign Het
Tgtp2 A G 11: 49,059,256 (GRCm38) M163T probably benign Het
Tiam1 G T 16: 89,865,392 (GRCm38) Q613K possibly damaging Het
Vsig10l T A 7: 43,464,823 (GRCm38) S190T probably damaging Het
Vwa3b A G 1: 37,115,671 (GRCm38) Y512C probably damaging Het
Wdfy3 T A 5: 101,919,446 (GRCm38) N1207Y probably damaging Het
Wdr17 C T 8: 54,681,399 (GRCm38) G349R probably damaging Het
Wdr70 A G 15: 7,922,105 (GRCm38) L417S possibly damaging Het
Wdr81 A C 11: 75,450,896 (GRCm38) S1182A possibly damaging Het
Zfp458 A T 13: 67,257,192 (GRCm38) C391* probably null Het
Zfp638 A G 6: 83,976,414 (GRCm38) E1167G probably damaging Het
Zfp763 T A 17: 33,019,595 (GRCm38) D192V probably benign Het
Zfp853 T G 5: 143,288,869 (GRCm38) Q332P unknown 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
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'- TGTTAGGCACACAGGGGTTG -3'
(R):5'- CTGAAAGACAAGGGCCGATTC -3'

Sequencing Primer
(F):5'- GGACTGGTTCCCTATACAAATGTC -3'
(R):5'- ATTCATGGATGGGAGCCCCTAC -3'
Posted On 2016-09-01