Incidental Mutation 'R1751:Grin3a'
ID 193497
Institutional Source Beutler Lab
Gene Symbol Grin3a
Ensembl Gene ENSMUSG00000039579
Gene Name glutamate receptor ionotropic, NMDA3A
Synonyms NMDAR-L, NR3A, A830097C19Rik
MMRRC Submission 039783-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1751 (G1)
Quality Score 223
Status Validated
Chromosome 4
Chromosomal Location 49661611-49845744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49844423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 220 (V220E)
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: V220E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075970
Gene: ENSMUSG00000039579
AA Change: V220E

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: V220E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091381
Gene: ENSMUSG00000039579
AA Change: V220E

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
Meta Mutation Damage Score 0.5976 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency 99% (85/86)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b T A 8: 43,972,948 (GRCm39) I685F probably benign Het
Alcam A T 16: 52,091,077 (GRCm39) N480K probably damaging Het
Arhgef2 A G 3: 88,551,260 (GRCm39) Q778R probably damaging Het
Ascc3 T A 10: 50,594,472 (GRCm39) I1189N probably damaging Het
AU040320 G A 4: 126,734,517 (GRCm39) G713D probably damaging Het
Bank1 G T 3: 135,940,375 (GRCm39) R203S probably benign Het
Bank1 A G 3: 135,960,698 (GRCm39) V53A probably benign Het
Cacna1g T C 11: 94,350,628 (GRCm39) S406G probably benign Het
Ccdc198 G A 14: 49,473,341 (GRCm39) T128I probably benign Het
Ccdc40 T A 11: 119,121,522 (GRCm39) probably null Het
Cdc5l A T 17: 45,718,731 (GRCm39) D628E probably benign Het
Chd3 G A 11: 69,244,727 (GRCm39) probably benign Het
Clstn3 A T 6: 124,408,958 (GRCm39) W860R probably damaging Het
Cntn4 G A 6: 106,595,371 (GRCm39) probably null Het
Coq10b A G 1: 55,100,513 (GRCm39) R66G probably damaging Het
Cpn2 A T 16: 30,078,485 (GRCm39) Y405* probably null Het
Cyp2b9 T C 7: 25,886,100 (GRCm39) V89A probably benign Het
Depdc1a T C 3: 159,228,924 (GRCm39) C559R probably damaging Het
Ephx1 C T 1: 180,822,242 (GRCm39) G101S probably damaging Het
Fam20a A T 11: 109,568,664 (GRCm39) N287K probably damaging Het
Flg A T 3: 93,187,220 (GRCm39) Y224F possibly damaging Het
Fzd8 C T 18: 9,213,643 (GRCm39) R242C probably damaging Het
Gart A C 16: 91,439,837 (GRCm39) probably benign Het
Gm11116 T C 5: 88,259,311 (GRCm39) probably benign Het
Gm5519 T C 19: 33,802,391 (GRCm39) Y145H possibly damaging Het
Gmeb1 G A 4: 131,962,198 (GRCm39) Q154* probably null Het
Gnas T A 2: 174,139,687 (GRCm39) probably benign Het
Greb1 A G 12: 16,773,439 (GRCm39) probably benign Het
Gstt2 T C 10: 75,670,098 (GRCm39) D8G probably damaging Het
Gucy2c A T 6: 136,725,773 (GRCm39) probably benign Het
Igf2r A C 17: 12,916,328 (GRCm39) S1677A possibly damaging Het
Jmjd1c T C 10: 67,061,469 (GRCm39) L1274P probably benign Het
Krt13 A C 11: 100,011,926 (GRCm39) H132Q possibly damaging Het
L1td1 T C 4: 98,625,686 (GRCm39) V627A probably benign Het
Lrp6 A G 6: 134,441,531 (GRCm39) L1145S probably damaging Het
Lrrn4cl A G 19: 8,829,135 (GRCm39) T38A probably benign Het
Ly96 A G 1: 16,776,399 (GRCm39) T112A probably benign Het
Meltf G T 16: 31,702,747 (GRCm39) C158F probably damaging Het
Mycbp2 A T 14: 103,485,841 (GRCm39) H1040Q probably damaging Het
Nol8 A T 13: 49,820,884 (GRCm39) T914S probably benign Het
Npas4 G A 19: 5,038,211 (GRCm39) P199L probably benign Het
Or12d17 A T 17: 37,777,792 (GRCm39) M232L probably benign Het
Pcdh10 A T 3: 45,338,612 (GRCm39) H923L probably damaging Het
Pcp4 A C 16: 96,326,689 (GRCm39) Q290P probably damaging Het
Pdlim1 C T 19: 40,240,348 (GRCm39) probably benign Het
Pias3 T C 3: 96,608,719 (GRCm39) S228P probably damaging Het
Pign A G 1: 105,580,917 (GRCm39) V154A probably benign Het
Pik3c2a A C 7: 115,945,471 (GRCm39) V1445G probably damaging Het
Plod3 T A 5: 137,019,030 (GRCm39) V305E possibly damaging Het
Plxnc1 A G 10: 94,685,677 (GRCm39) probably benign Het
Prkra G T 2: 76,477,584 (GRCm39) H40Q possibly damaging Het
Retnlg A T 16: 48,693,991 (GRCm39) D49V possibly damaging Het
Rfx2 A G 17: 57,091,754 (GRCm39) V313A probably benign Het
Robo2 A G 16: 73,831,912 (GRCm39) V256A probably damaging Het
Rtp1 A G 16: 23,250,124 (GRCm39) E163G probably damaging Het
Sbpl A G 17: 24,173,777 (GRCm39) probably null Het
Scg3 G A 9: 75,576,622 (GRCm39) T251M probably damaging Het
Setbp1 T C 18: 78,900,613 (GRCm39) D1018G probably damaging Het
Slc38a11 T A 2: 65,180,452 (GRCm39) I182F probably benign Het
Slc6a20a T A 9: 123,466,165 (GRCm39) I522F probably damaging Het
Smarca2 T C 19: 26,617,780 (GRCm39) probably benign Het
Ssbp3 G T 4: 106,904,612 (GRCm39) D336Y probably damaging Het
Stox1 T C 10: 62,495,445 (GRCm39) T943A probably damaging Het
Sun2 A G 15: 79,609,758 (GRCm39) S694P probably benign Het
Tdp1 G A 12: 99,857,602 (GRCm39) probably null Het
Tfap2a A T 13: 40,878,613 (GRCm39) I204N probably damaging Het
Tfip11 T A 5: 112,482,298 (GRCm39) W519R probably damaging Het
Tie1 T C 4: 118,333,373 (GRCm39) E831G possibly damaging Het
Tln2 C T 9: 67,193,796 (GRCm39) A1773T probably benign Het
Tmem39b A C 4: 129,586,976 (GRCm39) I78M possibly damaging Het
Trank1 T C 9: 111,220,547 (GRCm39) V2428A probably benign Het
Trim35 A G 14: 66,541,617 (GRCm39) E247G probably damaging Het
Trpc7 T A 13: 56,923,956 (GRCm39) D743V probably damaging Het
Trrap T C 5: 144,751,385 (GRCm39) probably null Het
Tsc1 A G 2: 28,566,038 (GRCm39) I485V probably damaging Het
Tsc22d1 T C 14: 76,655,542 (GRCm39) S674P probably damaging Het
Tsn A T 1: 118,228,618 (GRCm39) D201E probably damaging Het
Tsr3 T C 17: 25,461,613 (GRCm39) I317T possibly damaging Het
Tubb1 A G 2: 174,298,689 (GRCm39) S124G probably benign Het
Vmn1r192 A G 13: 22,371,441 (GRCm39) S260P probably benign Het
Vmn2r108 A T 17: 20,682,786 (GRCm39) V806E probably damaging Het
Wnt10b A T 15: 98,670,556 (GRCm39) L228Q probably damaging Het
Zfp108 C A 7: 23,961,321 (GRCm39) H637Q 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
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
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
Predicted Primers PCR Primer
(F):5'- GCTTGTCAAAACATGACTGCCTCCC -3'
(R):5'- TCGCTGTGGAAAACCTGAACCG -3'

Sequencing Primer
(F):5'- CTAGGGACATAGTCCAAGCCTC -3'
(R):5'- CTACAACCTGTCTTTGGAAGTAGTG -3'
Posted On 2014-05-23