Incidental Mutation 'IGL02481:Grin3a'
ID 295226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grin3a
Ensembl Gene ENSMUSG00000039579
Gene Name glutamate receptor ionotropic, NMDA3A
Synonyms NMDAR-L, NR3A, A830097C19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02481
Quality Score
Status
Chromosome 4
Chromosomal Location 49661611-49845744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49702868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 873 (Y873H)
Ref Sequence ENSEMBL: ENSMUSP00000091381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076674] [ENSMUST00000093859]
AlphaFold A2AIR5
Predicted Effect probably damaging
Transcript: ENSMUST00000076674
AA Change: Y873H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075970
Gene: ENSMUSG00000039579
AA Change: Y873H

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 161 181 N/A INTRINSIC
Lig_chan-Glu_bd 557 622 9.62e-22 SMART
PBPe 565 910 1.43e-73 SMART
transmembrane domain 934 956 N/A INTRINSIC
coiled coil region 1063 1105 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000093859
AA Change: Y873H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091381
Gene: ENSMUSG00000039579
AA Change: Y873H

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 161 181 N/A INTRINSIC
Lig_chan-Glu_bd 557 622 9.62e-22 SMART
PBPe 565 910 1.43e-73 SMART
transmembrane domain 934 956 N/A INTRINSIC
coiled coil region 1083 1125 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149059
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptors, which belong to the superfamily of glutamate-regulated ion channels, and function in physiological and pathological processes in the central nervous system. This subunit shows greater than 90% identity to the corresponding subunit in rat. Studies in the knockout mouse deficient in this subunit suggest that this gene may be involved in the development of synaptic elements by modulating NMDA receptor activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene display increased current densities in some cerebrocortical neurons of the brain, increased levels of prepulse inhibition, and altered dendritic spine morphology. Otherwise, they display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b8 G A 6: 34,340,729 (GRCm39) A209T probably damaging Het
Ccdc90b G A 7: 92,223,854 (GRCm39) V117I probably benign Het
Cdkl2 A T 5: 92,185,130 (GRCm39) I87N probably damaging Het
Cfap57 T A 4: 118,438,302 (GRCm39) E863V probably damaging Het
Clca3a2 G A 3: 144,790,701 (GRCm39) S457L possibly damaging Het
Crim1 C T 17: 78,658,227 (GRCm39) T702I probably damaging Het
Cysltr1 C A X: 105,621,728 (GRCm39) V253L probably damaging Het
Dgcr6 G A 16: 17,883,038 (GRCm39) A6T possibly damaging Het
Dis3l T C 9: 64,226,362 (GRCm39) probably null Het
Dnm3 A G 1: 161,838,471 (GRCm39) S826P probably damaging Het
Dspp A G 5: 104,323,514 (GRCm39) N219S possibly damaging Het
Dzip3 T C 16: 48,795,914 (GRCm39) probably benign Het
Erc2 T A 14: 27,375,028 (GRCm39) L82Q probably damaging Het
Ercc6l T C X: 101,188,275 (GRCm39) T745A probably benign Het
Gata4 T C 14: 63,437,910 (GRCm39) T414A probably benign Het
Gmps A G 3: 63,921,773 (GRCm39) D592G probably damaging Het
Gsr T C 8: 34,175,569 (GRCm39) probably benign Het
Gtf2h1 T C 7: 46,454,417 (GRCm39) L133P probably damaging Het
Ifna5 A C 4: 88,754,327 (GRCm39) E189A probably benign Het
Irx5 A G 8: 93,087,307 (GRCm39) Y413C probably damaging Het
Kcnk3 A G 5: 30,779,727 (GRCm39) E259G probably damaging Het
Kcnt2 T C 1: 140,282,299 (GRCm39) probably benign Het
Kif19a A G 11: 114,679,979 (GRCm39) E772G probably benign Het
Klhdc7a T A 4: 139,693,121 (GRCm39) T609S probably benign Het
Krt78 C A 15: 101,856,853 (GRCm39) probably benign Het
Lca5 A T 9: 83,305,170 (GRCm39) I212N probably damaging Het
Lgr6 T C 1: 134,929,429 (GRCm39) probably benign Het
Madd T G 2: 91,008,381 (GRCm39) T174P probably damaging Het
Mcm9 A G 10: 53,502,033 (GRCm39) I184T probably damaging Het
Mlycd G A 8: 120,137,073 (GRCm39) R431H probably damaging Het
Myh10 G A 11: 68,692,994 (GRCm39) A1393T probably benign Het
Myof G T 19: 37,926,361 (GRCm39) Y1144* probably null Het
Nbeal2 G A 9: 110,455,063 (GRCm39) Q2578* probably null Het
Nlrp4f T A 13: 65,342,548 (GRCm39) T366S probably benign Het
Nnat T C 2: 157,403,167 (GRCm39) F36S possibly damaging Het
Nsd3 C A 8: 26,181,143 (GRCm39) P915T probably damaging Het
Or10ak12 C T 4: 118,666,696 (GRCm39) V122M probably benign Het
Or10k2 A C 8: 84,268,015 (GRCm39) M81L possibly damaging Het
Or1n1 A T 2: 36,749,830 (GRCm39) C177S probably damaging Het
Or2g25 A G 17: 37,970,363 (GRCm39) L287P probably damaging Het
Or4l1 G A 14: 50,166,164 (GRCm39) T279I probably damaging Het
Pkd1l3 A G 8: 110,341,414 (GRCm39) N89S unknown Het
Pkd2 T C 5: 104,634,636 (GRCm39) F556L probably damaging Het
Psen2 T A 1: 180,062,626 (GRCm39) M239L probably damaging Het
Rad50 A G 11: 53,570,876 (GRCm39) I794T probably benign Het
Ralgps1 G A 2: 33,230,741 (GRCm39) T14I probably benign Het
Rnpepl1 C T 1: 92,843,629 (GRCm39) P250S probably damaging Het
Skic8 T C 9: 54,635,545 (GRCm39) I19V probably damaging Het
Slc47a2 A G 11: 61,227,067 (GRCm39) V167A possibly damaging Het
Tmem161b T A 13: 84,432,112 (GRCm39) V41D probably damaging Het
Vmn2r88 A T 14: 51,651,611 (GRCm39) E308D probably benign Het
Zfhx4 G A 3: 5,476,903 (GRCm39) E3148K probably damaging Het
Other mutations in Grin3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00942:Grin3a APN 4 49,770,589 (GRCm39) missense probably damaging 1.00
IGL01541:Grin3a APN 4 49,792,533 (GRCm39) missense probably damaging 0.98
IGL01886:Grin3a APN 4 49,702,814 (GRCm39) missense probably damaging 1.00
IGL02133:Grin3a APN 4 49,792,946 (GRCm39) nonsense probably null
IGL02367:Grin3a APN 4 49,702,805 (GRCm39) missense probably damaging 1.00
IGL02830:Grin3a APN 4 49,702,787 (GRCm39) missense possibly damaging 0.94
IGL02945:Grin3a APN 4 49,792,971 (GRCm39) missense possibly damaging 0.86
IGL03174:Grin3a APN 4 49,771,107 (GRCm39) missense probably damaging 1.00
R0266:Grin3a UTSW 4 49,665,501 (GRCm39) nonsense probably null
R0597:Grin3a UTSW 4 49,665,351 (GRCm39) missense probably damaging 1.00
R0849:Grin3a UTSW 4 49,665,501 (GRCm39) nonsense probably null
R1448:Grin3a UTSW 4 49,702,804 (GRCm39) missense probably damaging 1.00
R1640:Grin3a UTSW 4 49,844,721 (GRCm39) missense probably benign
R1751:Grin3a UTSW 4 49,844,423 (GRCm39) missense probably damaging 1.00
R1767:Grin3a UTSW 4 49,844,423 (GRCm39) missense probably damaging 1.00
R1858:Grin3a UTSW 4 49,792,437 (GRCm39) missense probably benign 0.01
R1860:Grin3a UTSW 4 49,665,309 (GRCm39) missense possibly damaging 0.95
R1924:Grin3a UTSW 4 49,844,988 (GRCm39) missense possibly damaging 0.95
R2035:Grin3a UTSW 4 49,771,336 (GRCm39) missense probably damaging 1.00
R2108:Grin3a UTSW 4 49,665,510 (GRCm39) missense possibly damaging 0.91
R2307:Grin3a UTSW 4 49,793,033 (GRCm39) critical splice acceptor site probably null
R3082:Grin3a UTSW 4 49,665,243 (GRCm39) missense probably benign 0.00
R3083:Grin3a UTSW 4 49,665,243 (GRCm39) missense probably benign 0.00
R3430:Grin3a UTSW 4 49,792,534 (GRCm39) missense probably benign 0.01
R3695:Grin3a UTSW 4 49,792,704 (GRCm39) missense possibly damaging 0.81
R3932:Grin3a UTSW 4 49,672,472 (GRCm39) critical splice donor site probably null
R4559:Grin3a UTSW 4 49,844,555 (GRCm39) missense probably damaging 1.00
R4972:Grin3a UTSW 4 49,770,484 (GRCm39) missense probably damaging 1.00
R4982:Grin3a UTSW 4 49,665,512 (GRCm39) missense probably benign 0.03
R5385:Grin3a UTSW 4 49,719,313 (GRCm39) missense probably damaging 1.00
R5423:Grin3a UTSW 4 49,770,376 (GRCm39) intron probably benign
R5478:Grin3a UTSW 4 49,792,481 (GRCm39) missense probably benign 0.00
R5634:Grin3a UTSW 4 49,792,843 (GRCm39) missense probably damaging 1.00
R5790:Grin3a UTSW 4 49,792,717 (GRCm39) missense probably damaging 1.00
R5976:Grin3a UTSW 4 49,792,602 (GRCm39) missense probably damaging 1.00
R6271:Grin3a UTSW 4 49,792,516 (GRCm39) missense probably benign 0.00
R6451:Grin3a UTSW 4 49,844,969 (GRCm39) missense probably damaging 1.00
R6538:Grin3a UTSW 4 49,770,856 (GRCm39) missense probably damaging 1.00
R6629:Grin3a UTSW 4 49,844,991 (GRCm39) missense probably damaging 1.00
R7217:Grin3a UTSW 4 49,770,741 (GRCm39) missense possibly damaging 0.81
R7337:Grin3a UTSW 4 49,702,762 (GRCm39) missense probably damaging 1.00
R7338:Grin3a UTSW 4 49,771,238 (GRCm39) missense probably benign
R7477:Grin3a UTSW 4 49,719,278 (GRCm39) missense probably damaging 1.00
R8090:Grin3a UTSW 4 49,714,224 (GRCm39) missense probably damaging 1.00
R8313:Grin3a UTSW 4 49,665,599 (GRCm39) missense probably benign
R8559:Grin3a UTSW 4 49,770,555 (GRCm39) missense probably damaging 1.00
R9103:Grin3a UTSW 4 49,771,179 (GRCm39) missense probably damaging 0.99
R9662:Grin3a UTSW 4 49,792,432 (GRCm39) missense possibly damaging 0.79
R9736:Grin3a UTSW 4 49,672,472 (GRCm39) critical splice donor site probably null
R9760:Grin3a UTSW 4 49,714,213 (GRCm39) missense probably damaging 1.00
Z1176:Grin3a UTSW 4 49,770,622 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16