Incidental Mutation 'IGL03352:Grin3b'
ID419775
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 #IGL03352
Quality Score
Status
Chromosome10
Chromosomal Location79970715-79977190 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 79973781 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 374 (R374C)
Ref Sequence ENSEMBL: ENSMUSP00000048576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045085] [ENSMUST00000045247] [ENSMUST00000052885]
Predicted Effect probably damaging
Transcript: ENSMUST00000045085
AA Change: R374C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048576
Gene: ENSMUSG00000035745
AA Change: R374C

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 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 unknown
Transcript: ENSMUST00000149148
AA Change: R15C
SMART Domains Protein: ENSMUSP00000116887
Gene: ENSMUSG00000035745
AA Change: R15C

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoah A G 13: 21,000,043 S426G probably benign Het
Arap3 T C 18: 37,981,302 probably benign Het
Arhgap45 T A 10: 80,030,751 N1029K probably damaging Het
Arhgef10l A T 4: 140,583,931 M1K probably null Het
Bloc1s6 T C 2: 122,742,718 L71P probably damaging Het
Ccer1 G T 10: 97,693,577 R34M unknown Het
Cd44 T C 2: 102,845,414 probably benign Het
Col17a1 T C 19: 47,681,375 probably null Het
Cspp1 A G 1: 10,047,437 E38G possibly damaging Het
Dock10 A T 1: 80,606,296 probably benign Het
Dsg3 A T 18: 20,527,632 M343L probably benign Het
Eif3l G A 15: 79,077,051 probably benign Het
Fcrl1 T C 3: 87,385,091 L150P probably benign Het
Flg2 T G 3: 93,202,494 S610A unknown Het
H2-Oa A T 17: 34,094,403 I143F probably damaging Het
Itgae C T 11: 73,131,730 P924S probably damaging Het
Itpr2 T A 6: 146,157,104 D2521V probably damaging Het
Laptm4a G A 12: 8,931,719 G143D probably benign Het
Lrp6 T C 6: 134,479,763 Y846C probably damaging Het
Mcm10 A T 2: 4,994,596 S749T probably damaging Het
Nemf T C 12: 69,331,905 N548D probably damaging Het
Nlrp4e T A 7: 23,320,826 L246Q probably damaging Het
Nsun6 A T 2: 14,996,346 C466* probably null Het
Olfm2 T C 9: 20,668,723 D252G probably damaging Het
Olfr112 T A 17: 37,563,790 I174F probably damaging Het
Olfr1499 T C 19: 13,814,928 I221V probably damaging Het
Olfr16 A C 1: 172,957,283 M163L probably benign Het
Olfr91 G A 17: 37,093,419 L152F probably benign Het
Pcdhb14 C T 18: 37,449,004 R388C possibly damaging Het
Piwil1 C T 5: 128,751,072 T712I probably benign Het
Piwil4 G T 9: 14,725,887 T377K probably damaging Het
Prg3 T C 2: 84,993,026 F182L probably damaging Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Retsat T C 6: 72,598,683 V19A probably damaging Het
Rpl21-ps4 A T 14: 11,227,760 noncoding transcript Het
Sh3glb2 A G 2: 30,345,351 V370A probably damaging Het
Skint4 G T 4: 112,165,686 W459C possibly damaging Het
Slco1a1 T A 6: 141,911,885 R573S probably benign Het
Smgc T C 15: 91,860,678 S694P probably damaging Het
Spaca6 A G 17: 17,838,139 Y7C probably damaging Het
Spn T C 7: 127,137,006 T110A probably benign Het
Ssfa2 T A 2: 79,645,101 M468K probably damaging Het
Tepsin C T 11: 120,091,877 V456I probably benign Het
Tex261 C T 6: 83,771,267 R171Q possibly damaging Het
Tmem184a A T 5: 139,813,000 F65I probably damaging Het
Tpm3 G A 3: 90,087,745 probably null Het
Tubgcp2 T A 7: 140,001,027 H671L probably benign Het
Unc13b T G 4: 43,237,110 D3393E possibly damaging Het
Vcan T A 13: 89,705,006 M612L probably benign Het
Vmn1r180 C A 7: 23,952,652 S80* probably null Het
Vmn1r64 C T 7: 5,884,071 V158I probably benign Het
Vps13d C T 4: 145,167,502 V496I possibly damaging Het
Wee2 T G 6: 40,452,655 probably null Het
Zfp804b T C 5: 6,770,039 N972S probably benign Het
Other mutations in Grin3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02754:Grin3b APN 10 79972889 missense possibly damaging 0.50
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
R7980:Grin3b UTSW 10 79975725 missense possibly damaging 0.75
R8069:Grin3b UTSW 10 79977034 missense unknown
R8128:Grin3b UTSW 10 79977110 missense
R8434:Grin3b UTSW 10 79974588 missense probably damaging 1.00
R8777:Grin3b UTSW 10 79973138 missense possibly damaging 0.96
R8777-TAIL:Grin3b UTSW 10 79973138 missense possibly damaging 0.96
R8848:Grin3b UTSW 10 79973833 missense probably benign 0.04
Posted On2016-08-02