Incidental Mutation 'IGL02754:Grin3b'
ID306335
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grin3b
Ensembl Gene ENSMUSG00000035745
Gene Nameglutamate receptor, ionotropic, NMDA3B
SynonymsNR3B
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02754
Quality Score
Status
Chromosome10
Chromosomal Location79970715-79977190 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 79972889 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 158 (I158F)
Ref Sequence ENSEMBL: ENSMUSP00000048576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045085] [ENSMUST00000045247] [ENSMUST00000052885]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045085
AA Change: I158F

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048576
Gene: ENSMUSG00000035745
AA Change: I158F

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: ENSMUST00000126383
Predicted Effect probably benign
Transcript: ENSMUST00000131816
SMART Domains Protein: ENSMUSP00000122984
Gene: ENSMUSG00000035745

DomainStartEndE-ValueType
Pfam:Lig_chan 1 368 2.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132080
Predicted Effect probably benign
Transcript: ENSMUST00000149148
SMART Domains Protein: ENSMUSP00000116887
Gene: ENSMUSG00000035745

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: ENSMUST00000218515
Coding Region Coverage
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AW551984 T A 9: 39,596,626 R405* probably null Het
AW551984 C T 9: 39,593,328 probably null Het
BC100530 G A 16: 36,359,537 P73S probably benign Het
Bdp1 T C 13: 100,060,973 E968G possibly damaging Het
Ccdc68 T C 18: 69,943,864 probably null Het
Ccdc87 T A 19: 4,839,861 L127H probably damaging Het
Cdk5r1 G T 11: 80,477,743 A79S probably benign Het
Cdyl A T 13: 35,683,742 probably benign Het
Cfdp1 A G 8: 111,854,134 probably benign Het
Chil1 A T 1: 134,183,601 I62F probably damaging Het
Cnot1 A T 8: 95,755,078 I789K probably benign Het
Cobl T C 11: 12,254,371 K695R probably damaging Het
Cobl C A 11: 12,254,370 K752N probably damaging Het
Dcaf6 T C 1: 165,338,346 probably null Het
Ece2 A T 16: 20,632,648 I197F probably damaging Het
Eif2b5 T G 16: 20,502,786 V363G possibly damaging Het
Gca T C 2: 62,672,358 S37P probably benign Het
Ghsr A C 3: 27,372,496 I234L probably damaging Het
Gtf2h2 A T 13: 100,481,239 D178E probably damaging Het
Herc2 A G 7: 56,097,498 E461G probably damaging Het
Hsph1 T A 5: 149,623,592 N531I possibly damaging Het
Insl6 G T 19: 29,325,129 Q63K probably benign Het
Lrp1b T C 2: 40,702,794 N3771S probably benign Het
Lrp8 T C 4: 107,834,755 probably null Het
Lvrn C T 18: 46,890,904 Q773* probably null Het
Mterf1b T C 5: 4,196,478 F40L possibly damaging Het
Nrg1 G A 8: 31,826,363 probably benign Het
Olfr1337 T A 4: 118,781,920 I222F possibly damaging Het
Olfr351 T A 2: 36,860,220 I43F probably damaging Het
Olfr507 T C 7: 108,622,673 I287T possibly damaging Het
Pax5 C T 4: 44,570,059 V319I probably damaging Het
Plcz1 T A 6: 140,010,581 T321S probably benign Het
Plekha6 A G 1: 133,284,938 E660G probably damaging Het
Prep T C 10: 45,067,332 M1T probably null Het
Prickle1 C T 15: 93,501,153 S598N possibly damaging Het
Prtn3 A G 10: 79,881,098 Q99R probably benign Het
Rad50 A G 11: 53,702,056 V89A probably damaging Het
Ret T C 6: 118,176,252 Y485C probably benign Het
Setd2 T A 9: 110,550,056 F980I possibly damaging Het
Slc44a4 A G 17: 34,921,303 Y228C probably damaging Het
Tex10 C T 4: 48,435,028 C779Y possibly damaging Het
Tfdp2 T G 9: 96,317,539 S285A probably benign Het
Thsd4 T A 9: 59,989,097 probably benign Het
Tmem106a A C 11: 101,590,393 E242D probably benign Het
Ttc22 T C 4: 106,638,472 V341A probably benign Het
Ubr4 T A 4: 139,410,784 S1151T probably damaging Het
Ubr4 G A 4: 139,393,159 probably null Het
Vmn1r206 A T 13: 22,620,890 L49* probably null Het
Vmn1r233 A T 17: 20,994,625 F21Y probably benign Het
Vmn1r233 A T 17: 20,994,624 F21L probably benign Het
Vmn2r15 A T 5: 109,293,268 C241* probably null Het
Zmym6 T A 4: 127,109,971 probably benign Het
Other mutations in Grin3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03352:Grin3b APN 10 79973781 missense probably damaging 0.99
R0485:Grin3b UTSW 10 79974056 missense possibly damaging 0.68
R0927:Grin3b UTSW 10 79971228 missense probably benign 0.04
R1526:Grin3b UTSW 10 79974602 missense probably damaging 1.00
R1699:Grin3b UTSW 10 79975882 missense probably damaging 0.99
R1789:Grin3b UTSW 10 79973408 missense probably benign
R1916:Grin3b UTSW 10 79974598 missense probably damaging 1.00
R1991:Grin3b UTSW 10 79970912 missense probably benign
R1991:Grin3b UTSW 10 79974646 missense probably damaging 1.00
R4359:Grin3b UTSW 10 79972897 missense probably benign 0.00
R4817:Grin3b UTSW 10 79976898 missense probably benign 0.01
R4909:Grin3b UTSW 10 79977104 makesense probably null
R4942:Grin3b UTSW 10 79975722 missense probably damaging 0.99
R4981:Grin3b UTSW 10 79976357 intron probably benign
R5689:Grin3b UTSW 10 79974631 missense probably damaging 1.00
R5910:Grin3b UTSW 10 79973021 missense probably benign 0.00
R6132:Grin3b UTSW 10 79976440 missense probably damaging 1.00
R6242:Grin3b UTSW 10 79976179 missense probably damaging 1.00
R6262:Grin3b UTSW 10 79974369 missense probably benign 0.38
R6336:Grin3b UTSW 10 79976461 missense probably damaging 1.00
R6942:Grin3b UTSW 10 79976119 critical splice donor site probably null
R7201:Grin3b UTSW 10 79974078 missense possibly damaging 0.96
R7322:Grin3b UTSW 10 79975695 missense probably damaging 1.00
R7526:Grin3b UTSW 10 79973051 missense probably benign
R7707:Grin3b UTSW 10 79975901 missense possibly damaging 0.89
Posted On2015-04-16