Incidental Mutation 'IGL02133:Grin3a'
ID 281084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grin3a
Ensembl Gene ENSMUSG00000039579
Gene Name glutamate receptor ionotropic, NMDA3A
Synonyms NR3A, A830097C19Rik, NMDAR-L
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02133
Quality Score
Status
Chromosome 4
Chromosomal Location 49661611-49845744 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 49792946 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 262 (W262*)
Ref Sequence ENSEMBL: ENSMUSP00000091381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076674] [ENSMUST00000093859]
AlphaFold A2AIR5
Predicted Effect probably null
Transcript: ENSMUST00000076674
AA Change: W262*
SMART Domains Protein: ENSMUSP00000075970
Gene: ENSMUSG00000039579
AA Change: W262*

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 null
Transcript: ENSMUST00000093859
AA Change: W262*
SMART Domains Protein: ENSMUSP00000091381
Gene: ENSMUSG00000039579
AA Change: W262*

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: ENSMUST00000131797
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011H14Rik T A 14: 49,232,967 Q165L probably benign Het
9530068E07Rik G T 11: 52,403,510 A193S probably damaging Het
Adam4 A G 12: 81,420,029 V606A probably benign Het
Atp2c2 A G 8: 119,754,335 I821V probably benign Het
Bmi1 A T 2: 18,683,677 R160W probably damaging Het
Ccdc88c G A 12: 100,940,090 R1062C probably damaging Het
Cntnap3 A T 13: 64,751,673 probably benign Het
Col20a1 C T 2: 181,007,144 T940I probably damaging Het
Csmd3 A C 15: 47,857,942 M1535R possibly damaging Het
Dhx38 C A 8: 109,558,241 E487* probably null Het
Fam186b A G 15: 99,273,703 S888P probably damaging Het
Fancm G A 12: 65,106,475 G1235D probably benign Het
Gtdc1 A T 2: 44,575,443 M305K probably damaging Het
H2-M9 T C 17: 36,641,737 E139G possibly damaging Het
Haus1 A T 18: 77,766,911 L53Q probably damaging Het
Hgfac A G 5: 35,046,587 Y483C probably damaging Het
Hipk2 C T 6: 38,819,134 V67I probably benign Het
Kbtbd8 T C 6: 95,121,732 probably benign Het
Kndc1 A G 7: 139,920,767 T683A probably benign Het
Ldhb A T 6: 142,492,500 M277K probably benign Het
Mgam T C 6: 40,643,076 L33P probably damaging Het
Ndst1 A G 18: 60,699,546 F571L probably benign Het
Neb G T 2: 52,212,804 probably null Het
Nrxn1 A G 17: 90,643,243 S503P probably damaging Het
Paqr3 A G 5: 97,095,931 V308A probably benign Het
Scnn1g T C 7: 121,743,699 F292L probably damaging Het
Stk3 A G 15: 35,099,516 F88S probably damaging Het
Tcaf2 T A 6: 42,627,396 E683V probably benign Het
Tprkb T C 6: 85,927,911 V123A probably benign Het
Ush2a T C 1: 188,443,343 Y1213H probably damaging Het
Vwa5b1 A G 4: 138,586,557 probably null Het
Wls A G 3: 159,897,370 Y140C probably damaging Het
Zan A G 5: 137,411,498 S28P possibly damaging Het
Other mutations in Grin3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00942:Grin3a APN 4 49770589 missense probably damaging 1.00
IGL01541:Grin3a APN 4 49792533 missense probably damaging 0.98
IGL01886:Grin3a APN 4 49702814 missense probably damaging 1.00
IGL02367:Grin3a APN 4 49702805 missense probably damaging 1.00
IGL02481:Grin3a APN 4 49702868 missense probably damaging 1.00
IGL02830:Grin3a APN 4 49702787 missense possibly damaging 0.94
IGL02945:Grin3a APN 4 49792971 missense possibly damaging 0.86
IGL03174:Grin3a APN 4 49771107 missense probably damaging 1.00
R0266:Grin3a UTSW 4 49665501 nonsense probably null
R0597:Grin3a UTSW 4 49665351 missense probably damaging 1.00
R0849:Grin3a UTSW 4 49665501 nonsense probably null
R1448:Grin3a UTSW 4 49702804 missense probably damaging 1.00
R1640:Grin3a UTSW 4 49844721 missense probably benign
R1751:Grin3a UTSW 4 49844423 missense probably damaging 1.00
R1767:Grin3a UTSW 4 49844423 missense probably damaging 1.00
R1858:Grin3a UTSW 4 49792437 missense probably benign 0.01
R1860:Grin3a UTSW 4 49665309 missense possibly damaging 0.95
R1924:Grin3a UTSW 4 49844988 missense possibly damaging 0.95
R2035:Grin3a UTSW 4 49771336 missense probably damaging 1.00
R2108:Grin3a UTSW 4 49665510 missense possibly damaging 0.91
R2307:Grin3a UTSW 4 49793033 critical splice acceptor site probably null
R3082:Grin3a UTSW 4 49665243 missense probably benign 0.00
R3083:Grin3a UTSW 4 49665243 missense probably benign 0.00
R3430:Grin3a UTSW 4 49792534 missense probably benign 0.01
R3695:Grin3a UTSW 4 49792704 missense possibly damaging 0.81
R3932:Grin3a UTSW 4 49672472 critical splice donor site probably null
R4559:Grin3a UTSW 4 49844555 missense probably damaging 1.00
R4972:Grin3a UTSW 4 49770484 missense probably damaging 1.00
R4982:Grin3a UTSW 4 49665512 missense probably benign 0.03
R5385:Grin3a UTSW 4 49719313 missense probably damaging 1.00
R5423:Grin3a UTSW 4 49770376 intron probably benign
R5478:Grin3a UTSW 4 49792481 missense probably benign 0.00
R5634:Grin3a UTSW 4 49792843 missense probably damaging 1.00
R5790:Grin3a UTSW 4 49792717 missense probably damaging 1.00
R5976:Grin3a UTSW 4 49792602 missense probably damaging 1.00
R6271:Grin3a UTSW 4 49792516 missense probably benign 0.00
R6451:Grin3a UTSW 4 49844969 missense probably damaging 1.00
R6538:Grin3a UTSW 4 49770856 missense probably damaging 1.00
R6629:Grin3a UTSW 4 49844991 missense probably damaging 1.00
R7217:Grin3a UTSW 4 49770741 missense possibly damaging 0.81
R7337:Grin3a UTSW 4 49702762 missense probably damaging 1.00
R7338:Grin3a UTSW 4 49771238 missense probably benign
R7477:Grin3a UTSW 4 49719278 missense probably damaging 1.00
R8090:Grin3a UTSW 4 49714224 missense probably damaging 1.00
R8313:Grin3a UTSW 4 49665599 missense probably benign
R8559:Grin3a UTSW 4 49770555 missense probably damaging 1.00
R9103:Grin3a UTSW 4 49771179 missense probably damaging 0.99
R9662:Grin3a UTSW 4 49792432 missense possibly damaging 0.79
R9736:Grin3a UTSW 4 49672472 critical splice donor site probably null
R9760:Grin3a UTSW 4 49714213 missense probably damaging 1.00
Z1176:Grin3a UTSW 4 49770622 missense probably damaging 1.00
Posted On 2015-04-16