Incidental Mutation 'R6262:Grin3b'
ID 506770
Institutional Source Beutler Lab
Gene Symbol Grin3b
Ensembl Gene ENSMUSG00000035745
Gene Name glutamate receptor, ionotropic, NMDA3B
Synonyms NR3B
MMRRC Submission 045016-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6262 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 79806549-79813024 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79810203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 570 (M570L)
Ref Sequence ENSEMBL: ENSMUSP00000048576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045085] [ENSMUST00000045247] [ENSMUST00000052885]
AlphaFold Q91ZU9
Predicted Effect probably benign
Transcript: ENSMUST00000045085
AA Change: M570L

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000048576
Gene: ENSMUSG00000035745
AA Change: M570L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 39 60 N/A INTRINSIC
low complexity region 217 230 N/A INTRINSIC
PBPe 458 810 1.01e-82 SMART
Lig_chan-Glu_bd 459 522 6.6e-20 SMART
transmembrane domain 826 848 N/A INTRINSIC
low complexity region 914 930 N/A INTRINSIC
coiled coil region 950 984 N/A INTRINSIC
low complexity region 989 1001 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000045247
SMART Domains Protein: ENSMUSP00000041049
Gene: ENSMUSG00000035754

DomainStartEndE-ValueType
Blast:WD40 27 66 3e-17 BLAST
WD40 70 107 1.48e1 SMART
WD40 110 149 1.24e-4 SMART
WD40 161 202 2.49e-1 SMART
WD40 205 243 2.05e1 SMART
WD40 258 297 2.32e-9 SMART
low complexity region 353 367 N/A INTRINSIC
Pfam:WD40_alt 383 429 4.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052885
SMART Domains Protein: ENSMUSP00000056792
Gene: ENSMUSG00000013858

DomainStartEndE-ValueType
Pfam:Membralin 34 131 3.3e-44 PFAM
Pfam:Membralin 138 393 3.9e-130 PFAM
transmembrane domain 394 411 N/A INTRINSIC
low complexity region 455 470 N/A INTRINSIC
low complexity region 483 521 N/A INTRINSIC
low complexity region 531 544 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124536
SMART Domains Protein: ENSMUSP00000119572
Gene: ENSMUSG00000013858

DomainStartEndE-ValueType
Pfam:Membralin 4 101 1.6e-44 PFAM
Pfam:Membralin 108 297 7.7e-83 PFAM
Pfam:Membralin 316 387 5e-42 PFAM
transmembrane domain 388 405 N/A INTRINSIC
low complexity region 449 464 N/A INTRINSIC
low complexity region 477 515 N/A INTRINSIC
low complexity region 525 538 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124889
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126383
Predicted Effect unknown
Transcript: ENSMUST00000149148
AA Change: M211L
SMART Domains Protein: ENSMUSP00000116887
Gene: ENSMUSG00000035745
AA Change: M211L

DomainStartEndE-ValueType
PBPe 100 452 1.01e-82 SMART
Lig_chan-Glu_bd 101 164 6.6e-20 SMART
transmembrane domain 468 490 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132080
Predicted Effect probably benign
Transcript: ENSMUST00000131816
SMART Domains Protein: ENSMUSP00000122984
Gene: ENSMUSG00000035745

DomainStartEndE-ValueType
Pfam:Lig_chan 1 368 2.2e-20 PFAM
Meta Mutation Damage Score 0.3703 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of an N-methyl-D-aspartate (NMDA) receptor. The encoded protein is found primarily in motor neurons, where it forms a heterotetramer with GRIN1 to create an excitatory glycine receptor. Variations in this gene have been proposed to be linked to schizophrenia. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null allele show a mild impairment in motor learning or coordination, reduced home cage activity, a highly increased social interaction with familiar cagemates in their home cage but moderately increased anxiety-like behavior and reduced social interaction in a new environment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G A 4: 53,092,917 (GRCm39) T289I probably benign Het
Abca2 T C 2: 25,334,922 (GRCm39) Y1965H possibly damaging Het
Adam26a T C 8: 44,022,125 (GRCm39) N455S possibly damaging Het
Art5 C T 7: 101,747,338 (GRCm39) G147D probably benign Het
Atp5f1a G A 18: 77,868,912 (GRCm39) V429M probably damaging Het
Calr4 A T 4: 109,108,564 (GRCm39) N213I probably damaging Het
Cchcr1 T C 17: 35,841,413 (GRCm39) S810P probably benign Het
Cdh4 A T 2: 179,439,419 (GRCm39) R189W probably damaging Het
Cdk5rap1 T C 2: 154,212,606 (GRCm39) D84G probably benign Het
Clasp2 T A 9: 113,705,420 (GRCm39) probably null Het
Cntnap2 T A 6: 45,037,046 (GRCm39) probably null Het
Cntnap4 T C 8: 113,529,843 (GRCm39) Y684H probably damaging Het
Cyp2a4 T A 7: 26,011,655 (GRCm39) V292E probably damaging Het
Dap A G 15: 31,235,960 (GRCm39) T10A probably benign Het
Dnah11 G A 12: 117,894,913 (GRCm39) R3645C probably damaging Het
Dnah9 A T 11: 65,772,631 (GRCm39) probably null Het
Efcab3 T A 11: 104,784,579 (GRCm39) M2787K probably benign Het
Efr3a T C 15: 65,729,323 (GRCm39) S675P possibly damaging Het
Gria1 A G 11: 57,133,680 (GRCm39) K451E probably damaging Het
Hs2st1 A G 3: 144,140,374 (GRCm39) F316L probably damaging Het
Hs6st3 A G 14: 119,376,403 (GRCm39) T193A possibly damaging Het
Hspg2 A T 4: 137,246,997 (GRCm39) D1108V probably damaging Het
Igf1r T A 7: 67,653,720 (GRCm39) L86Q probably damaging Het
Inpp5j A G 11: 3,452,615 (GRCm39) S212P probably benign Het
Junb A G 8: 85,704,359 (GRCm39) S234P possibly damaging Het
Lhx3 GTGTTGT GTGT 2: 26,092,435 (GRCm39) probably benign Het
Macf1 A G 4: 123,366,983 (GRCm39) S1028P possibly damaging Het
Met C A 6: 17,553,403 (GRCm39) A1063E probably benign Het
Mink1 T C 11: 70,494,151 (GRCm39) probably null Het
Mtor A G 4: 148,610,552 (GRCm39) E1621G possibly damaging Het
Mug2 T C 6: 122,052,214 (GRCm39) Y991H probably damaging Het
Neb T C 2: 52,198,699 (GRCm39) D414G probably damaging Het
Nkx6-3 T C 8: 23,643,863 (GRCm39) V88A probably benign Het
Nr3c2 A G 8: 77,635,262 (GRCm39) Q121R possibly damaging Het
Nup155 T C 15: 8,186,225 (GRCm39) V1329A probably benign Het
Or2d36 T C 7: 106,746,918 (GRCm39) Y132H probably damaging Het
Or5d35 T C 2: 87,855,738 (GRCm39) V224A probably benign Het
Pcdhb17 T A 18: 37,619,751 (GRCm39) F514I probably damaging Het
Pfkl A G 10: 77,824,507 (GRCm39) probably null Het
Prl8a1 A T 13: 27,758,126 (GRCm39) H194Q possibly damaging Het
Sh3tc1 C G 5: 35,857,117 (GRCm39) E1241Q probably damaging Het
Slc6a6 A T 6: 91,732,013 (GRCm39) H614L possibly damaging Het
Sort1 A G 3: 108,217,527 (GRCm39) Y143C probably damaging Het
Stat4 T A 1: 52,141,360 (GRCm39) W569R probably null Het
Taco1 A T 11: 105,962,693 (GRCm39) K127* probably null Het
Tas2r110 T C 6: 132,845,638 (GRCm39) I223T probably damaging Het
Tex21 A G 12: 76,259,306 (GRCm39) I329T probably damaging Het
Tmprss11b T C 5: 86,810,119 (GRCm39) H287R probably benign Het
Trim30a A G 7: 104,060,741 (GRCm39) L345P probably benign Het
Vmn1r62 G A 7: 5,678,556 (GRCm39) C79Y probably damaging Het
Vmn2r116 A G 17: 23,606,351 (GRCm39) K421R probably benign Het
Vwde C T 6: 13,205,020 (GRCm39) S287N probably damaging Het
Xrcc4 A T 13: 89,926,906 (GRCm39) M300K probably benign Het
Zan A T 5: 137,427,747 (GRCm39) probably null Het
Zbtb7c A G 18: 76,270,413 (GRCm39) D167G probably benign Het
Zfc3h1 A G 10: 115,249,881 (GRCm39) Y1165C probably damaging Het
Zfp326 T A 5: 106,036,353 (GRCm39) L88Q probably damaging Het
Zfp667 A G 7: 6,307,973 (GRCm39) T214A probably benign Het
Other mutations in Grin3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02754:Grin3b APN 10 79,808,723 (GRCm39) missense possibly damaging 0.50
IGL03352:Grin3b APN 10 79,809,615 (GRCm39) missense probably damaging 0.99
R0485:Grin3b UTSW 10 79,809,890 (GRCm39) missense possibly damaging 0.68
R0927:Grin3b UTSW 10 79,807,062 (GRCm39) missense probably benign 0.04
R1526:Grin3b UTSW 10 79,810,436 (GRCm39) missense probably damaging 1.00
R1699:Grin3b UTSW 10 79,811,716 (GRCm39) missense probably damaging 0.99
R1789:Grin3b UTSW 10 79,809,242 (GRCm39) missense probably benign
R1916:Grin3b UTSW 10 79,810,432 (GRCm39) missense probably damaging 1.00
R1991:Grin3b UTSW 10 79,810,480 (GRCm39) missense probably damaging 1.00
R1991:Grin3b UTSW 10 79,806,746 (GRCm39) missense probably benign
R4359:Grin3b UTSW 10 79,808,731 (GRCm39) missense probably benign 0.00
R4817:Grin3b UTSW 10 79,812,732 (GRCm39) missense probably benign 0.01
R4909:Grin3b UTSW 10 79,812,938 (GRCm39) makesense probably null
R4942:Grin3b UTSW 10 79,811,556 (GRCm39) missense probably damaging 0.99
R4981:Grin3b UTSW 10 79,812,191 (GRCm39) intron probably benign
R5689:Grin3b UTSW 10 79,810,465 (GRCm39) missense probably damaging 1.00
R5910:Grin3b UTSW 10 79,808,855 (GRCm39) missense probably benign 0.00
R6132:Grin3b UTSW 10 79,812,274 (GRCm39) missense probably damaging 1.00
R6242:Grin3b UTSW 10 79,812,013 (GRCm39) missense probably damaging 1.00
R6336:Grin3b UTSW 10 79,812,295 (GRCm39) missense probably damaging 1.00
R6942:Grin3b UTSW 10 79,811,953 (GRCm39) critical splice donor site probably null
R7201:Grin3b UTSW 10 79,809,912 (GRCm39) missense possibly damaging 0.96
R7322:Grin3b UTSW 10 79,811,529 (GRCm39) missense probably damaging 1.00
R7526:Grin3b UTSW 10 79,808,885 (GRCm39) missense probably benign
R7707:Grin3b UTSW 10 79,811,735 (GRCm39) missense possibly damaging 0.89
R7980:Grin3b UTSW 10 79,811,559 (GRCm39) missense possibly damaging 0.75
R8069:Grin3b UTSW 10 79,812,868 (GRCm39) missense unknown
R8128:Grin3b UTSW 10 79,812,944 (GRCm39) missense
R8434:Grin3b UTSW 10 79,810,422 (GRCm39) missense probably damaging 1.00
R8777:Grin3b UTSW 10 79,808,972 (GRCm39) missense possibly damaging 0.96
R8777-TAIL:Grin3b UTSW 10 79,808,972 (GRCm39) missense possibly damaging 0.96
R8848:Grin3b UTSW 10 79,809,667 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ACCTGGCCTTTGACTTTGAG -3'
(R):5'- CAGTGCGTCCGAAGAGAATG -3'

Sequencing Primer
(F):5'- CGTGATGGACGCTGGACAG -3'
(R):5'- CGTCCGAAGAGAATGGCGTAG -3'
Posted On 2018-03-15