Incidental Mutation 'IGL02830:Grin3a'
ID361392
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grin3a
Ensembl Gene ENSMUSG00000039579
Gene Nameglutamate receptor ionotropic, NMDA3A
SynonymsNR3A, A830097C19Rik, NMDAR-L
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02830
Quality Score
Status
Chromosome4
Chromosomal Location49661611-49845744 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 49702787 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 900 (M900L)
Ref Sequence ENSEMBL: ENSMUSP00000091381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076674] [ENSMUST00000093859]
Predicted Effect possibly damaging
Transcript: ENSMUST00000076674
AA Change: M900L

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075970
Gene: ENSMUSG00000039579
AA Change: M900L

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 possibly damaging
Transcript: ENSMUST00000093859
AA Change: M900L

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091381
Gene: ENSMUSG00000039579
AA Change: M900L

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T A 17: 48,037,426 E67D possibly damaging Het
9530053A07Rik C A 7: 28,162,923 H2471Q probably damaging Het
Acad11 T A 9: 104,075,919 F116I probably damaging Het
Acox2 G A 14: 8,255,298 T160I probably damaging Het
Anxa7 A T 14: 20,456,540 M444K possibly damaging Het
Atg2a A G 19: 6,247,681 D423G probably benign Het
Cela3a T C 4: 137,401,635 N282S probably benign Het
Cyp2c50 G A 19: 40,098,056 V296I probably benign Het
Fgd3 A G 13: 49,264,631 probably benign Het
Gimap8 G A 6: 48,656,305 A353T probably benign Het
H1f0 T G 15: 79,029,311 probably benign Het
Heatr1 T C 13: 12,426,212 V1456A possibly damaging Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Kbtbd3 T A 9: 4,330,096 S157T possibly damaging Het
Kif19a C T 11: 114,781,208 T207M probably damaging Het
Klc1 T C 12: 111,776,907 Y223H probably damaging Het
Klhl33 C T 14: 50,891,757 V672M probably damaging Het
Lrrc49 G A 9: 60,685,110 L34F probably damaging Het
Nalcn C T 14: 123,293,469 V1386I probably damaging Het
Olfr142 A T 2: 90,252,781 I69N probably damaging Het
Olfr201 A G 16: 59,269,053 S205P possibly damaging Het
Olfr292 T G 7: 86,695,174 C239W probably damaging Het
Olfr65 C T 7: 103,906,444 P2S probably benign Het
Orc5 A T 5: 22,529,267 L173Q probably damaging Het
Otud4 T G 8: 79,673,301 D880E probably benign Het
Pde12 T C 14: 26,668,585 Y323C probably damaging Het
Pde8b G T 13: 95,052,901 D198E probably benign Het
Prom2 T A 2: 127,535,069 I542F possibly damaging Het
Ptprj G A 2: 90,453,144 T952I probably benign Het
Ribc2 T A 15: 85,132,257 probably benign Het
Sec31b C T 19: 44,531,703 R214K probably damaging Het
Senp5 G A 16: 31,983,485 probably benign Het
Sh3pxd2a G A 19: 47,283,078 R249W probably damaging Het
Sorcs3 G A 19: 48,723,002 probably null Het
Spata31d1c A G 13: 65,035,366 T241A probably benign Het
Tac1 G A 6: 7,555,650 V13I probably benign Het
Tnnc2 T A 2: 164,777,510 D138V probably null Het
Tspan32 T A 7: 143,017,592 M159K possibly damaging Het
Tsta3 C T 15: 75,925,588 V275I probably benign Het
Ttc28 A T 5: 111,286,239 T2380S probably benign Het
Ubc T A 5: 125,387,313 I317F probably damaging Het
Usp24 T C 4: 106,347,387 S268P possibly damaging Het
Vmn2r91 C A 17: 18,136,622 H850Q probably benign Het
Xrn1 T C 9: 96,018,181 probably null Het
Zfp329 A C 7: 12,810,116 C494G probably damaging Het
Zfp54 T C 17: 21,433,456 S71P probably 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
IGL02133:Grin3a APN 4 49792946 nonsense probably null
IGL02367:Grin3a APN 4 49702805 missense probably damaging 1.00
IGL02481:Grin3a APN 4 49702868 missense probably damaging 1.00
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
Z1176:Grin3a UTSW 4 49770622 missense probably damaging 1.00
Posted On2015-12-18