Incidental Mutation 'R1942:Grin2b'
ID 216285
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 039960-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1942 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 135690231-136150509 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135709730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1272 (V1272E)
Ref Sequence ENSEMBL: ENSMUSP00000107536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053880] [ENSMUST00000111905]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000053880
AA Change: V1272E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062284
Gene: ENSMUSG00000030209
AA Change: V1272E

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 possibly damaging
Transcript: ENSMUST00000111905
AA Change: V1272E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107536
Gene: ENSMUSG00000030209
AA Change: V1272E

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 0.0823 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.7%
Validation Efficiency 100% (75/75)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A T 15: 81,949,625 (GRCm39) Y1174F probably damaging Het
Ahnak A G 19: 8,992,447 (GRCm39) E4577G probably damaging Het
Anapc4 T C 5: 53,004,056 (GRCm39) V291A probably benign Het
Apba2 A G 7: 64,345,218 (GRCm39) E136G possibly damaging Het
Arhgap20 C A 9: 51,742,998 (GRCm39) Q279K probably benign Het
B3galnt1 A T 3: 69,483,258 (GRCm39) M1K probably null Het
C4bp C A 1: 130,583,804 (GRCm39) probably benign Het
Catsperg1 G A 7: 28,906,232 (GRCm39) T157I possibly damaging Het
Cfap90 A C 13: 68,761,090 (GRCm39) I171L probably benign Het
Chrm1 T A 19: 8,655,637 (GRCm39) M114K probably damaging Het
Clasp1 A G 1: 118,429,078 (GRCm39) E329G possibly damaging Het
Clrn2 A C 5: 45,611,337 (GRCm39) Y62S probably benign Het
Col12a1 T G 9: 79,542,748 (GRCm39) D2339A probably damaging Het
Copa T A 1: 171,939,455 (GRCm39) L564Q probably damaging Het
Cpeb2 C A 5: 43,392,596 (GRCm39) probably benign Het
Dhx57 A T 17: 80,572,573 (GRCm39) M647K probably damaging Het
Diaph3 C T 14: 87,378,556 (GRCm39) probably benign Het
Eomes A G 9: 118,313,716 (GRCm39) D587G probably benign Het
Gm5142 T A 14: 59,416,156 (GRCm39) M1L probably benign Het
Gnl2 A G 4: 124,923,957 (GRCm39) I12V probably benign Het
Gprin1 C T 13: 54,887,752 (GRCm39) C174Y probably benign Het
Hdac9 A G 12: 34,479,544 (GRCm39) L227S probably damaging Het
Helz T A 11: 107,493,318 (GRCm39) L247Q probably benign Het
Hs6st1 T C 1: 36,107,803 (GRCm39) V22A probably benign Het
Hspg2 C A 4: 137,269,863 (GRCm39) A2304E possibly damaging Het
Htr3a T C 9: 48,819,911 (GRCm39) Y73C probably damaging Het
Il1rap A C 16: 26,541,205 (GRCm39) E482A probably damaging Het
Itsn2 T A 12: 4,689,670 (GRCm39) L581* probably null Het
Msmb A G 14: 31,870,034 (GRCm39) E2G probably benign Het
Muc19 T C 15: 91,776,666 (GRCm39) noncoding transcript Het
Muc4 A C 16: 32,569,460 (GRCm39) L173F probably damaging Het
Muc5b A T 7: 141,411,421 (GRCm39) S1456C unknown Het
Mylip A T 13: 45,560,172 (GRCm39) I203F probably damaging Het
Nckap5 A T 1: 125,952,039 (GRCm39) D1504E probably damaging Het
Neil1 C G 9: 57,053,891 (GRCm39) R143P probably benign Het
Nlrp2 T A 7: 5,325,447 (GRCm39) T742S probably damaging Het
Nme8 A G 13: 19,859,978 (GRCm39) V214A probably damaging Het
Nsun7 C T 5: 66,441,588 (GRCm39) T419I probably benign Het
Nup210l G A 3: 90,058,544 (GRCm39) E648K probably benign Het
Or10g6 T A 9: 39,934,031 (GRCm39) L114H probably damaging Het
Or10g6 T C 9: 39,934,048 (GRCm39) Y120H probably damaging Het
Or2y1c T C 11: 49,360,981 (GRCm39) M1T probably null Het
Or8s2 A G 15: 98,276,445 (GRCm39) L182P probably damaging Het
Parp11 A C 6: 127,447,663 (GRCm39) probably null Het
Pomgnt1 G T 4: 116,012,472 (GRCm39) probably null Het
Ppp1r14c T C 10: 3,413,417 (GRCm39) I150T probably damaging Het
Psd4 A G 2: 24,295,805 (GRCm39) E908G probably damaging Het
Psmd6 A T 14: 14,116,442 (GRCm38) V91E probably damaging Het
Ptk2b A T 14: 66,406,830 (GRCm39) V634D probably damaging Het
Rapgef6 A G 11: 54,548,089 (GRCm39) I753V possibly damaging Het
Rbm45 G A 2: 76,205,823 (GRCm39) probably null Het
Ric1 A G 19: 29,578,416 (GRCm39) probably benign Het
Sh3rf2 A G 18: 42,282,689 (GRCm39) K416E probably damaging Het
Six5 C T 7: 18,830,858 (GRCm39) A495V possibly damaging Het
Slc27a6 T A 18: 58,689,870 (GRCm39) M112K probably damaging Het
Slc5a4a T C 10: 75,983,422 (GRCm39) S20P unknown Het
Smg1 A G 7: 117,757,326 (GRCm39) probably benign Het
Sntb2 G A 8: 107,737,984 (GRCm39) A511T probably damaging Het
Stk31 A T 6: 49,416,061 (GRCm39) N622I probably damaging Het
Sulf1 T C 1: 12,918,397 (GRCm39) F38S probably damaging Het
Szt2 G T 4: 118,249,817 (GRCm39) T521K probably benign Het
Terf1 G T 1: 15,876,038 (GRCm39) R46I probably benign Het
Tmem245 A G 4: 56,923,511 (GRCm39) probably benign Het
Tmigd1 T C 11: 76,804,905 (GRCm39) probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Umod A G 7: 119,076,155 (GRCm39) Y204H probably damaging Het
Vcan T A 13: 89,851,543 (GRCm39) Q1139L probably benign Het
Vmn1r85 T A 7: 12,818,668 (GRCm39) T159S possibly damaging Het
Vmn2r103 T A 17: 20,032,562 (GRCm39) S779T probably benign Het
Vmn2r27 C T 6: 124,200,722 (GRCm39) A412T probably damaging Het
Zc3h12d A C 10: 7,729,077 (GRCm39) D147A probably damaging Het
Zfp800 A T 6: 28,243,272 (GRCm39) D564E probably benign Het
Zfp932 A G 5: 110,154,853 (GRCm39) E17G 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
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'- ATCCATGAATCGGCCCTTGTC -3'
(R):5'- GAACCTGACCAATGTGGATTG -3'

Sequencing Primer
(F):5'- GAATCGGCCCTTGTCTTTCAGG -3'
(R):5'- ATAGGTCTGGGGGCAACTTC -3'
Posted On 2014-08-01