Incidental Mutation 'R8058:Grin2b'
ID 619537
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 067495-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8058 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 135690231-136150509 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135710225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1107 (L1107Q)
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: L1107Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062284
Gene: ENSMUSG00000030209
AA Change: L1107Q

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: L1107Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107536
Gene: ENSMUSG00000030209
AA Change: L1107Q

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,081,954 (GRCm39) D769N possibly damaging Het
Abcb6 A G 1: 75,156,653 (GRCm39) L37P possibly damaging Het
Abcg1 G T 17: 31,324,504 (GRCm39) A250S probably benign Het
Acsf3 C T 8: 123,540,373 (GRCm39) H524Y possibly damaging Het
Agbl4 A G 4: 110,518,039 (GRCm39) K110R unknown Het
Arfgap2 G A 2: 91,096,644 (GRCm39) probably null Het
B4galt4 T C 16: 38,586,383 (GRCm39) probably null Het
Bex6 G T 16: 32,005,224 (GRCm39) D11Y probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
C8b A T 4: 104,647,811 (GRCm39) D334V probably damaging Het
Capn11 T C 17: 45,954,681 (GRCm39) Q152R probably null Het
Ccdc171 C A 4: 83,499,003 (GRCm39) Q234K probably damaging Het
Cemip2 C A 19: 21,829,695 (GRCm39) A1268E probably benign Het
Clec2h A G 6: 128,650,966 (GRCm39) D82G probably benign Het
Creld2 A G 15: 88,710,632 (GRCm39) D349G probably damaging Het
D430041D05Rik A G 2: 103,979,128 (GRCm39) *1415Q probably null Het
Dnmt3a T C 12: 3,952,768 (GRCm39) V755A possibly damaging Het
Doc2a G T 7: 126,450,164 (GRCm39) V201L probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbn1 G T 2: 125,193,889 (GRCm39) D1359E possibly damaging Het
Fcnb T C 2: 27,969,707 (GRCm39) Y120C probably damaging Het
Fras1 T A 5: 96,842,778 (GRCm39) D1665E probably benign Het
Fry A T 5: 150,419,232 (GRCm39) D524V Het
Garem1 A G 18: 21,281,621 (GRCm39) L245P probably damaging Het
Gdf6 A G 4: 9,859,712 (GRCm39) S265G probably benign Het
Gm5591 T C 7: 38,218,363 (GRCm39) I837V probably benign Het
Gpr61 T C 3: 108,058,211 (GRCm39) Y150C probably damaging Het
Helb A G 10: 119,941,483 (GRCm39) S402P probably benign Het
Htt A G 5: 34,977,444 (GRCm39) T777A probably benign Het
Iffo2 A G 4: 139,341,164 (GRCm39) D383G probably benign Het
Ikzf3 G T 11: 98,407,753 (GRCm39) Y29* probably null Het
Ints2 A T 11: 86,146,179 (GRCm39) M143K probably benign Het
Jmjd1c T C 10: 67,090,274 (GRCm39) V2292A not run Het
Katnip A G 7: 125,442,188 (GRCm39) E725G probably benign Het
Lamb1 C A 12: 31,353,046 (GRCm39) Q916K probably benign Het
Lrrtm4 G A 6: 79,999,528 (GRCm39) M313I probably benign Het
Lum A G 10: 97,404,425 (GRCm39) I107V probably benign Het
Ly6h T C 15: 75,437,061 (GRCm39) E126G probably benign Het
Map3k5 G A 10: 20,007,860 (GRCm39) V1230M probably damaging Het
Mcoln1 T C 8: 3,558,378 (GRCm39) F211L probably benign Het
Mink1 G A 11: 70,494,594 (GRCm39) W258* probably null Het
Muc16 G T 9: 18,571,298 (GRCm39) S407* probably null Het
Ngef G A 1: 87,473,744 (GRCm39) Q13* probably null Het
Nxpe5 T A 5: 138,237,573 (GRCm39) Y44* probably null Het
Or13d1 T A 4: 52,971,106 (GRCm39) L162M probably benign Het
Or4a77 A G 2: 89,487,671 (GRCm39) V38A probably benign Het
Or5t9 A G 2: 86,660,052 (GRCm39) R319G probably benign Het
Or7e178 T A 9: 20,225,476 (GRCm39) I247F probably damaging Het
Or8g24 A T 9: 38,989,862 (GRCm39) Y60N probably damaging Het
Or8h8 C A 2: 86,753,151 (GRCm39) A242S probably benign Het
Orc3 C A 4: 34,595,223 (GRCm39) E249* probably null Het
Otogl A T 10: 107,598,287 (GRCm39) C2288S probably damaging Het
Pde1b A G 15: 103,433,238 (GRCm39) E249G probably damaging Het
Phf2 T C 13: 48,976,558 (GRCm39) E219G unknown Het
Rbm19 T A 5: 120,278,440 (GRCm39) probably null Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Sbk2 A G 7: 4,960,289 (GRCm39) Y294H possibly damaging Het
Selenoo T C 15: 88,976,942 (GRCm39) I198T possibly damaging Het
Sema3f T C 9: 107,559,800 (GRCm39) E729G probably benign Het
Serpinb1b A T 13: 33,269,293 (GRCm39) T9S probably benign Het
Sfxn4 T C 19: 60,832,690 (GRCm39) T235A probably damaging Het
Shc4 A T 2: 125,491,154 (GRCm39) Y461* probably null Het
Slc22a15 T C 3: 101,771,926 (GRCm39) D391G probably benign Het
Slc22a23 G T 13: 34,489,167 (GRCm39) Y239* probably null Het
Slc24a2 G A 4: 86,909,750 (GRCm39) A656V probably damaging Het
Slc2a5 A T 4: 150,227,590 (GRCm39) I470F probably damaging Het
Sptbn4 T C 7: 27,063,694 (GRCm39) E2249G possibly damaging Het
Tas2r139 A T 6: 42,118,753 (GRCm39) Q295L probably benign Het
Tdrd7 C A 4: 46,034,309 (GRCm39) S1051R probably benign Het
Tnfrsf18 G A 4: 156,112,802 (GRCm39) A163T probably benign Het
Ube3b T C 5: 114,544,846 (GRCm39) V596A possibly damaging Het
Vmn2r10 T A 5: 109,149,955 (GRCm39) N363I probably benign Het
Vmn2r15 T A 5: 109,440,956 (GRCm39) I301F probably damaging Het
Yod1 C T 1: 130,646,806 (GRCm39) Q228* probably null Het
Zfp433 A T 10: 81,556,124 (GRCm39) K209* probably null Het
Zfp865 G A 7: 5,033,445 (GRCm39) V477I probably benign Het
Zfp937 T A 2: 150,081,421 (GRCm39) Y484N probably benign Het
Zfp951 T G 5: 104,962,312 (GRCm39) H418P probably damaging 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
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
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'- TCCGTGTTTAAGGTGAGACC -3'
(R):5'- ACAGTGGCCATGATGACTTG -3'

Sequencing Primer
(F):5'- TGACCGAATCTCGCTTGAAG -3'
(R):5'- GCCATGATGACTTGATTCGATCAG -3'
Posted On 2020-01-23