Incidental Mutation 'R6271:Grin3a'
ID 507318
Institutional Source Beutler Lab
Gene Symbol Grin3a
Ensembl Gene ENSMUSG00000039579
Gene Name glutamate receptor ionotropic, NMDA3A
Synonyms NMDAR-L, NR3A, A830097C19Rik
MMRRC Submission 044379-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6271 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 49661611-49845744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49792516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 406 (I406V)
Ref Sequence ENSEMBL: ENSMUSP00000091381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076674] [ENSMUST00000093859]
AlphaFold A2AIR5
Predicted Effect probably benign
Transcript: ENSMUST00000076674
AA Change: I406V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000075970
Gene: ENSMUSG00000039579
AA Change: I406V

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 benign
Transcript: ENSMUST00000093859
AA Change: I406V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000091381
Gene: ENSMUSG00000039579
AA Change: I406V

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G T 4: 132,792,035 (GRCm39) C1092F possibly damaging Het
Aplf T C 6: 87,623,230 (GRCm39) E304G possibly damaging Het
Atp12a A G 14: 56,615,879 (GRCm39) D547G probably benign Het
B3gat2 T C 1: 23,854,342 (GRCm39) L212P probably damaging Het
Babam2 G T 5: 32,158,706 (GRCm39) A219S probably damaging Het
Ccdc18 A C 5: 108,322,753 (GRCm39) S618R possibly damaging Het
Ces2c G A 8: 105,578,748 (GRCm39) G342D probably damaging Het
Cfap57 A C 4: 118,452,956 (GRCm39) D582E probably benign Het
Cisd2 T C 3: 135,114,627 (GRCm39) N115D possibly damaging Het
Cyp17a1 A G 19: 46,661,159 (GRCm39) F42L probably benign Het
Fam234a T C 17: 26,437,211 (GRCm39) D156G probably benign Het
Fer1l6 T A 15: 58,513,767 (GRCm39) I1554K probably benign Het
Fv1 A G 4: 147,954,474 (GRCm39) T347A possibly damaging Het
Gm5134 T A 10: 75,831,643 (GRCm39) C361S probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifna13 A C 4: 88,562,082 (GRCm39) L181V possibly damaging Het
Irx4 A G 13: 73,414,713 (GRCm39) probably null Het
Kcna3 T A 3: 106,944,922 (GRCm39) M395K probably damaging Het
Kcnma1 A T 14: 23,559,957 (GRCm39) V347D probably damaging Het
Kng2 A T 16: 22,822,698 (GRCm39) V218E probably benign Het
Krt36 G A 11: 99,995,298 (GRCm39) Q167* probably null Het
Lama2 T C 10: 26,899,325 (GRCm39) D2457G possibly damaging Het
Ldah G A 12: 8,318,599 (GRCm39) probably null Het
Lhfpl3 G T 5: 22,951,242 (GRCm39) A18S probably benign Het
Lrrk1 A G 7: 65,956,851 (GRCm39) probably null Het
Ltv1 T C 10: 13,055,445 (GRCm39) Y352C probably damaging Het
Lyst G T 13: 13,833,339 (GRCm39) M1720I probably benign Het
Mkx A T 18: 6,937,059 (GRCm39) probably null Het
Myo18a A G 11: 77,711,635 (GRCm39) H626R probably damaging Het
Nop9 A C 14: 55,991,198 (GRCm39) Q618H probably damaging Het
Or12k5 T C 2: 36,895,554 (GRCm39) Q24R probably damaging Het
Or4c12b T C 2: 89,646,906 (GRCm39) S73P probably damaging Het
Or7g32 A G 9: 19,389,337 (GRCm39) S67P probably damaging Het
Or8c9 T C 9: 38,241,578 (GRCm39) S232P probably benign Het
Otog C A 7: 45,901,464 (GRCm39) Q388K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Oxct2b T G 4: 123,011,508 (GRCm39) V476G probably damaging Het
Parp10 T C 15: 76,126,202 (GRCm39) T329A probably benign Het
Pcdhga5 T C 18: 37,829,735 (GRCm39) S728P probably benign Het
Piezo1 G T 8: 123,221,671 (GRCm39) H574Q probably damaging Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Preb C A 5: 31,115,395 (GRCm39) V255F probably damaging Het
Prmt9 A G 8: 78,304,092 (GRCm39) N725S probably damaging Het
Ric1 A T 19: 29,544,765 (GRCm39) probably null Het
Semp2l1 T A 1: 32,584,572 (GRCm39) D446V probably damaging Het
Serinc3 G C 2: 163,472,896 (GRCm39) L245V probably benign Het
Sgce T C 6: 4,730,015 (GRCm39) K70E possibly damaging Het
Simc1 T G 13: 54,687,537 (GRCm39) V102G probably damaging Het
Slc66a3 T C 12: 17,047,704 (GRCm39) D76G probably damaging Het
Smyd2 A G 1: 189,616,049 (GRCm39) Y362H probably damaging Het
Sptbn1 G T 11: 30,050,660 (GRCm39) H2310N probably benign Het
Syne1 T C 10: 5,184,652 (GRCm39) Y4077C probably damaging Het
Syne2 C A 12: 75,937,155 (GRCm39) A251E probably damaging Het
Taok1 A T 11: 77,464,609 (GRCm39) L159Q probably damaging Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Timeless T C 10: 128,086,593 (GRCm39) L1043P probably damaging Het
Tmprss3 T C 17: 31,405,536 (GRCm39) E352G probably damaging Het
Trav6-4 A T 14: 53,692,039 (GRCm39) T46S probably benign Het
Ubiad1 A T 4: 148,521,083 (GRCm39) Y180* probably null Het
Usp47 A G 7: 111,686,263 (GRCm39) E627G probably damaging Het
Vmn2r124 A G 17: 18,283,145 (GRCm39) T280A probably benign 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
IGL02481:Grin3a APN 4 49,702,868 (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
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
Predicted Primers PCR Primer
(F):5'- TCAGGACTATTGGCCCTGAGAG -3'
(R):5'- GAAATGTCCACACAGTTTGGGC -3'

Sequencing Primer
(F):5'- TATTGGCCCTGAGAGCTACACAG -3'
(R):5'- ACACAGTTTGGGCTATCACC -3'
Posted On 2018-03-15