Incidental Mutation 'R4624:Grin2b'
ID 346410
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 041889-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4624 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 135690231-136150509 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135710823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 908 (M908V)
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: M908V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000062284
Gene: ENSMUSG00000030209
AA Change: M908V

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: M908V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107536
Gene: ENSMUSG00000030209
AA Change: M908V

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 0.3903 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 93% (85/91)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik A G 4: 126,505,873 (GRCm39) T134A possibly damaging Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Adgb C A 10: 10,278,748 (GRCm39) V267L probably benign Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankrd52 A G 10: 128,225,128 (GRCm39) H863R probably damaging Het
Ap3b1 A G 13: 94,619,734 (GRCm39) R766G unknown Het
Apol7c A G 15: 77,410,595 (GRCm39) F117S probably damaging Het
Bcr A T 10: 74,989,752 (GRCm39) E716V probably damaging Het
Borcs6 T C 11: 68,951,423 (GRCm39) L267P probably damaging Het
Ccdc184 A T 15: 98,066,638 (GRCm39) N148Y probably benign Het
Ccdc50 A G 16: 27,255,351 (GRCm39) K223R probably null Het
Cd2 T G 3: 101,194,747 (GRCm39) K114Q probably benign Het
Cdh19 T C 1: 110,859,981 (GRCm39) K167E probably benign Het
Cep131 T C 11: 119,961,658 (GRCm39) E558G probably damaging Het
Cmya5 A T 13: 93,200,059 (GRCm39) V3423E probably damaging Het
Cnot6l A G 5: 96,225,070 (GRCm39) V541A probably benign Het
Cntn5 A T 9: 9,704,809 (GRCm39) C663* probably null Het
Dnaaf4 A G 9: 72,871,453 (GRCm39) I238V probably benign Het
Dnah12 T C 14: 26,456,913 (GRCm39) I893T possibly damaging Het
Dop1a G A 9: 86,403,578 (GRCm39) V129M probably damaging Het
Exoc6b A G 6: 84,831,791 (GRCm39) probably benign Het
Ext2 A G 2: 93,533,545 (GRCm39) V671A probably benign Het
Fcamr T G 1: 130,730,999 (GRCm39) L28R probably damaging Het
Fer1l6 T C 15: 58,425,554 (GRCm39) I144T probably damaging Het
Frem1 A G 4: 82,907,343 (GRCm39) L839P probably damaging Het
Fscn2 A T 11: 120,258,169 (GRCm39) I364F probably benign Het
Gm10291 T C 3: 78,824,581 (GRCm39) noncoding transcript Het
Gm29125 T C 1: 80,362,676 (GRCm39) noncoding transcript Het
Helz2 T C 2: 180,881,101 (GRCm39) E436G probably damaging Het
Hfe A T 13: 23,890,061 (GRCm39) C149* probably null Het
Hs1bp3 T C 12: 8,386,357 (GRCm39) V253A probably benign Het
Kat14 A G 2: 144,246,140 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnh3 T A 15: 99,124,253 (GRCm39) D47E probably damaging Het
Kcp A G 6: 29,482,813 (GRCm39) F1419L possibly damaging Het
Kera A G 10: 97,445,493 (GRCm39) N284S probably benign Het
Klhl24 A G 16: 19,938,873 (GRCm39) D476G probably damaging Het
Krt79 T A 15: 101,848,241 (GRCm39) T137S possibly damaging Het
Lilrb4a A G 10: 51,367,584 (GRCm39) Y42C probably damaging Het
Lnx1 C T 5: 74,821,121 (GRCm39) probably benign Het
Map3k14 A G 11: 103,121,927 (GRCm39) Y497H probably damaging Het
Mmut G A 17: 41,257,946 (GRCm39) E371K probably damaging Het
Nkx2-6 A G 14: 69,412,375 (GRCm39) Q181R probably damaging Het
Notch1 T C 2: 26,368,093 (GRCm39) K631R possibly damaging Het
Or5an10 C T 19: 12,276,347 (GRCm39) V50I probably benign Het
Pcdh9 T A 14: 94,123,845 (GRCm39) N775I probably damaging Het
Phkb T A 8: 86,575,341 (GRCm39) probably benign Het
Pick1 T A 15: 79,130,666 (GRCm39) I250N probably damaging Het
Plec T C 15: 76,059,335 (GRCm39) E3556G probably damaging Het
Prex2 C T 1: 11,359,489 (GRCm39) Q1566* probably null Het
Ptgr2 T G 12: 84,355,128 (GRCm39) F287L possibly damaging Het
Ptprv T C 1: 135,051,869 (GRCm39) noncoding transcript Het
Rab5b G T 10: 128,519,130 (GRCm39) H83Q probably benign Het
Ranbp6 A T 19: 29,788,263 (GRCm39) Y696* probably null Het
Rapgef3 G T 15: 97,656,810 (GRCm39) D318E probably damaging Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Rsrc1 T C 3: 67,257,311 (GRCm39) V241A probably damaging Het
Ryr2 A T 13: 12,121,301 (GRCm39) I11N possibly damaging Het
S100a11 T C 3: 93,433,321 (GRCm39) L55P probably damaging Het
Sec13 A G 6: 113,706,652 (GRCm39) S254P probably benign Het
Slc25a36 G A 9: 96,961,178 (GRCm39) T147I probably damaging Het
Spata31d1c A G 13: 65,184,411 (GRCm39) E651G probably benign Het
Stox2 C A 8: 47,646,851 (GRCm39) R203L probably damaging Het
Tbc1d30 A T 10: 121,132,691 (GRCm39) D224E probably damaging Het
Tdrd6 A G 17: 43,936,881 (GRCm39) L1389P probably damaging Het
Tmprss11b T C 5: 86,812,895 (GRCm39) S134G probably benign Het
Tmtc2 A T 10: 105,139,511 (GRCm39) S672T probably benign Het
Tnnt1 G A 7: 4,515,267 (GRCm39) probably benign Het
Tpst2 A G 5: 112,456,162 (GRCm39) M234V probably damaging Het
Ttbk2 T C 2: 120,603,804 (GRCm39) D208G probably benign Het
Ube2c A G 2: 164,614,093 (GRCm39) N143S possibly damaging Het
Unc45b T A 11: 82,816,835 (GRCm39) M425K probably benign Het
Uvssa G A 5: 33,547,300 (GRCm39) E289K possibly damaging Het
Vmn2r11 T A 5: 109,200,101 (GRCm39) R451W probably damaging Het
Vmn2r45 T C 7: 8,484,341 (GRCm39) Y488C probably damaging Het
Vmn2r55 T A 7: 12,404,627 (GRCm39) I259F possibly damaging Het
Wdfy3 C T 5: 102,031,949 (GRCm39) R2277Q possibly damaging Het
Wdr64 T G 1: 175,599,829 (GRCm39) M111R probably benign 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
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'- AGGTTGCCAAATGTTCTCTCTACC -3'
(R):5'- AATCATCAGTGGTAGGGCAC -3'

Sequencing Primer
(F):5'- CTCACTAATGTAGTCACTGAACAGG -3'
(R):5'- ATCATCAGTGGTAGGGCACTGTTG -3'
Posted On 2015-09-25