Incidental Mutation 'R1928:Grin2b'
ID 215047
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 039946-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1928 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 135690231-136150509 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136021044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 86 (C86R)
Ref Sequence ENSEMBL: ENSMUSP00000142696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053880] [ENSMUST00000111905] [ENSMUST00000125905] [ENSMUST00000143943] [ENSMUST00000152012] [ENSMUST00000188999]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000053880
AA Change: C86R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062284
Gene: ENSMUSG00000030209
AA Change: C86R

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: C86R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107536
Gene: ENSMUSG00000030209
AA Change: C86R

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 probably benign
Transcript: ENSMUST00000125905
Predicted Effect probably benign
Transcript: ENSMUST00000143943
Predicted Effect probably damaging
Transcript: ENSMUST00000152012
AA Change: C86R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142696
Gene: ENSMUSG00000030209
AA Change: C86R

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:ANF_receptor 66 312 1.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188999
Meta Mutation Damage Score 0.9160 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.6%
Validation Efficiency 98% (120/123)
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: 117 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik T G 6: 132,603,564 (GRCm39) Q64P unknown Het
Adgrv1 A T 13: 81,668,905 (GRCm39) F1830L probably benign Het
Anks3 C T 16: 4,763,918 (GRCm39) probably null Het
Aqp12 G A 1: 92,934,332 (GRCm39) D70N probably damaging Het
B4galnt4 C T 7: 140,648,061 (GRCm39) R526* probably null Het
Best2 A G 8: 85,737,882 (GRCm39) F171S probably benign Het
C2cd5 A T 6: 142,958,956 (GRCm39) V965D probably damaging Het
Cd33 T C 7: 43,179,303 (GRCm39) E282G probably benign Het
Cep95 C T 11: 106,681,554 (GRCm39) probably benign Het
Chd6 A T 2: 160,809,920 (GRCm39) probably benign Het
Clec4d A T 6: 123,244,120 (GRCm39) probably null Het
Cntd1 C T 11: 101,174,678 (GRCm39) S128L probably damaging Het
Col19a1 T C 1: 24,490,835 (GRCm39) probably benign Het
Ctrb1 C A 8: 112,415,324 (GRCm39) V117L probably benign Het
Dclk1 T C 3: 55,154,942 (GRCm39) V124A possibly damaging Het
Dcp2 T C 18: 44,538,638 (GRCm39) probably null Het
Dctn1 C A 6: 83,176,166 (GRCm39) probably benign Het
Dennd11 A G 6: 40,388,648 (GRCm39) F238L probably benign Het
Ephb3 T A 16: 21,041,045 (GRCm39) M701K possibly damaging Het
Ero1b A G 13: 12,616,648 (GRCm39) E359G probably damaging Het
Exosc8 G T 3: 54,636,266 (GRCm39) A255E probably damaging Het
Fhip1a G A 3: 85,595,838 (GRCm39) P349L probably damaging Het
Fndc3c1 C T X: 105,477,128 (GRCm39) A824T probably benign Het
Gja10 G A 4: 32,601,812 (GRCm39) Q191* probably null Het
Gm1587 C T 14: 78,036,288 (GRCm39) R6Q unknown Het
Gm3409 A G 5: 146,476,418 (GRCm39) I190V probably benign Het
Gm4952 G T 19: 12,600,973 (GRCm39) M64I probably damaging Het
Gramd1b C T 9: 40,217,765 (GRCm39) M595I possibly damaging Het
Grik1 C T 16: 87,848,241 (GRCm39) V176M probably damaging Het
Gtse1 C T 15: 85,746,264 (GRCm39) probably benign Het
Hectd2 T C 19: 36,589,719 (GRCm39) Y615H probably damaging Het
Hydin T C 8: 111,229,579 (GRCm39) F1552S possibly damaging Het
Ifi207 A G 1: 173,557,211 (GRCm39) V516A possibly damaging Het
Igfbp5 G T 1: 72,913,184 (GRCm39) P39T probably damaging Het
Il23r T A 6: 67,400,719 (GRCm39) D537V possibly damaging Het
Invs A G 4: 48,390,095 (GRCm39) Y251C probably damaging Het
Isl1 G T 13: 116,444,953 (GRCm39) H25Q probably damaging Het
Kif13a A G 13: 46,966,221 (GRCm39) L399P probably damaging Het
Klhl1 A G 14: 96,584,225 (GRCm39) V335A probably benign Het
Klhl14 C A 18: 21,784,843 (GRCm39) A195S probably damaging Het
Lepr A G 4: 101,639,927 (GRCm39) probably benign Het
Map1b A C 13: 99,567,454 (GRCm39) S1756A unknown Het
Med23 C T 10: 24,785,710 (GRCm39) A877V probably benign Het
Mfsd4b2 T C 10: 39,797,458 (GRCm39) Y299C probably damaging Het
Mipol1 T A 12: 57,379,205 (GRCm39) M221K probably damaging Het
Muc4 A T 16: 32,569,350 (GRCm39) S137C probably damaging Het
Mutyh T C 4: 116,673,855 (GRCm39) Y189H probably damaging Het
Nabp2 T C 10: 128,245,182 (GRCm39) T21A possibly damaging Het
Nalf1 T C 8: 9,820,217 (GRCm39) T268A probably benign Het
Nell1 T A 7: 50,350,943 (GRCm39) V530E possibly damaging Het
Npc1 G C 18: 12,346,435 (GRCm39) P254A possibly damaging Het
Nup153 A G 13: 46,854,502 (GRCm39) V530A probably damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Or10j5 T C 1: 172,784,881 (GRCm39) V173A probably damaging Het
Or11h4b A G 14: 50,918,872 (GRCm39) V73A probably benign Het
Or7e177 T C 9: 20,212,354 (GRCm39) V287A probably benign Het
Pabpc1l T A 2: 163,874,174 (GRCm39) I193N possibly damaging Het
Pabpc4l A G 3: 46,401,066 (GRCm39) Y193H probably damaging Het
Pank1 T C 19: 34,856,281 (GRCm39) S66G probably benign Het
Pcdhb1 A T 18: 37,399,233 (GRCm39) K395* probably null Het
Pcna A G 2: 132,093,817 (GRCm39) probably benign Het
Pgr T A 9: 8,903,630 (GRCm39) Y550* probably null Het
Phf11a A G 14: 59,519,316 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,151,524 (GRCm39) probably benign Het
Pofut2 T A 10: 77,096,642 (GRCm39) Y122* probably null Het
Pole A G 5: 110,475,644 (GRCm39) M1818V probably benign Het
Rapgef3 A G 15: 97,647,914 (GRCm39) L696P probably damaging Het
Rasal3 T C 17: 32,616,327 (GRCm39) D310G probably damaging Het
Rhoq A G 17: 87,302,486 (GRCm39) K141E probably benign Het
Rilpl1 A G 5: 124,652,813 (GRCm39) probably benign Het
Rnaseh1 T C 12: 28,703,088 (GRCm39) S91P probably benign Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Saa1 C A 7: 46,391,856 (GRCm39) G31W probably null Het
Saxo5 T A 8: 3,536,947 (GRCm39) I431K possibly damaging Het
Scaf8 A G 17: 3,218,352 (GRCm39) T241A unknown Het
Scarb2 C T 5: 92,592,125 (GRCm39) A473T possibly damaging Het
Scnn1b T C 7: 121,509,670 (GRCm39) F273S probably damaging Het
Sdccag8 T C 1: 176,656,536 (GRCm39) V136A probably damaging Het
Sdr16c6 A T 4: 4,069,926 (GRCm39) V138E probably damaging Het
Sf3a3 G A 4: 124,615,886 (GRCm39) A180T possibly damaging Het
Slc16a5 T A 11: 115,360,842 (GRCm39) S342T probably damaging Het
Slc18a1 A G 8: 69,526,464 (GRCm39) S75P probably benign Het
Slc7a6 T A 8: 106,920,120 (GRCm39) probably benign Het
Smco3 G A 6: 136,808,845 (GRCm39) Q10* probably null Het
Spem2 T C 11: 69,708,290 (GRCm39) Q225R probably benign Het
Ssb G T 2: 69,697,901 (GRCm39) probably null Het
Stx8 T C 11: 68,000,106 (GRCm39) I182T probably damaging Het
Synj2 T A 17: 6,040,542 (GRCm39) I121N probably damaging Het
Tbc1d1 T C 5: 64,502,643 (GRCm39) Y1055H probably damaging Het
Thbs3 G T 3: 89,125,067 (GRCm39) R52L probably damaging Het
Tmem101 C T 11: 102,044,222 (GRCm39) V222I probably benign Het
Tnks2 C T 19: 36,823,068 (GRCm39) Q112* probably null Het
Tnrc6b T A 15: 80,764,924 (GRCm39) W809R probably damaging Het
Trib2 T A 12: 15,865,454 (GRCm39) R16S probably damaging Het
Trim12a T C 7: 103,956,331 (GRCm39) N70D probably damaging Het
Trim55 T A 3: 19,716,046 (GRCm39) probably null Het
Tspyl5 T A 15: 33,687,153 (GRCm39) D264V probably damaging Het
Ttn A G 2: 76,555,388 (GRCm39) V30539A probably damaging Het
Tubgcp3 A G 8: 12,713,988 (GRCm39) F43S possibly damaging Het
Tut7 A G 13: 59,964,548 (GRCm39) L209P probably damaging Het
Ube3d A G 9: 86,305,056 (GRCm39) L262P probably damaging Het
Ugt1a7c T C 1: 88,023,651 (GRCm39) V270A probably benign Het
Vav3 T A 3: 109,413,738 (GRCm39) F225L possibly damaging Het
Vmn1r21 G T 6: 57,821,077 (GRCm39) Y122* probably null Het
Vmn1r225 C A 17: 20,723,071 (GRCm39) Q171K probably benign Het
Vmn2r103 T C 17: 20,032,029 (GRCm39) V601A possibly damaging Het
Vmn2r19 T A 6: 123,308,589 (GRCm39) N555K probably damaging Het
Vps33a G A 5: 123,696,684 (GRCm39) A323V probably benign Het
Wdr77 C T 3: 105,874,618 (GRCm39) P337S probably benign Het
Wnk1 A T 6: 119,929,884 (GRCm39) I93N probably damaging Het
Zbtb9 T A 17: 27,193,612 (GRCm39) I339N probably damaging Het
Zfp202 T A 9: 40,121,083 (GRCm39) D241E probably damaging Het
Zfp235 T A 7: 23,840,563 (GRCm39) Y327* probably null Het
Zfp820 A C 17: 22,038,316 (GRCm39) D337E probably benign Het
Zfp944 T C 17: 22,560,065 (GRCm39) T14A probably damaging Het
Zfy1 A G Y: 729,733 (GRCm39) V303A unknown Het
Zfyve26 C T 12: 79,286,744 (GRCm39) W2281* probably null 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
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
R8084:Grin2b UTSW 6 135,710,486 (GRCm39) missense probably benign 0.03
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'- CTGGTGCACGTCTATCTTTAAC -3'
(R):5'- GCAAAGCTCGTTCCCAAAAG -3'

Sequencing Primer
(F):5'- GTGCACGTCTATCTTTAACTACTTAG -3'
(R):5'- TCGTTCCCAAAAGAGCGC -3'
Posted On 2014-07-14