Incidental Mutation 'R6451:Grin3a'
ID 516337
Institutional Source Beutler Lab
Gene Symbol Grin3a
Ensembl Gene ENSMUSG00000039579
Gene Name glutamate receptor ionotropic, NMDA3A
Synonyms NMDAR-L, NR3A, A830097C19Rik
MMRRC Submission 044587-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6451 (G1)
Quality Score 137.008
Status Validated
Chromosome 4
Chromosomal Location 49661611-49845744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 49844969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 38 (C38Y)
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: C38Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075970
Gene: ENSMUSG00000039579
AA Change: C38Y

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: C38Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091381
Gene: ENSMUSG00000039579
AA Change: C38Y

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 0.6599 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 98% (39/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,842,733 (GRCm39) V1164E probably damaging Het
Acnat2 A G 4: 49,380,262 (GRCm39) V372A probably benign Het
Adam17 A T 12: 21,392,883 (GRCm39) D313E probably benign Het
Adgrf5 A T 17: 43,735,709 (GRCm39) R200* probably null Het
Akr1d1 G A 6: 37,527,150 (GRCm39) E129K probably benign Het
Arhgap29 T A 3: 121,787,230 (GRCm39) V382E probably damaging Het
Arhgef40 G A 14: 52,238,456 (GRCm39) V1312I probably damaging Het
Bbs9 A G 9: 22,479,060 (GRCm39) S168G probably damaging Het
Carmil1 T A 13: 24,276,541 (GRCm39) K202* probably null Het
Cnep1r1 A G 8: 88,846,438 (GRCm39) E19G probably damaging Het
Dnah1 T A 14: 31,022,765 (GRCm39) Q1124L probably benign Het
Dph1 G T 11: 75,072,143 (GRCm39) A242D probably damaging Het
Efcab7 T A 4: 99,719,738 (GRCm39) Y73* probably null Het
Esp18 G T 17: 39,720,853 (GRCm39) E33* probably null Het
Fbln2 T A 6: 91,211,241 (GRCm39) I395K probably benign Het
Hivep3 T A 4: 119,956,105 (GRCm39) S1474T probably benign Het
Hmcn1 C T 1: 150,868,670 (GRCm39) V45M probably damaging Het
Intu T A 3: 40,655,723 (GRCm39) F937I possibly damaging Het
Llgl2 G A 11: 115,735,767 (GRCm39) G121D probably damaging Het
Myo7a C T 7: 97,722,374 (GRCm39) V1184M probably benign Het
Nsmce4a G T 7: 130,144,479 (GRCm39) Het
Or5w20 T C 2: 87,726,935 (GRCm39) Y131H probably damaging Het
Or6c69c A T 10: 129,911,007 (GRCm39) M243L probably benign Het
Phactr1 T A 13: 43,286,469 (GRCm39) V590E probably damaging Het
Pigo G A 4: 43,021,412 (GRCm39) S510L probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Rnf19a A G 15: 36,253,205 (GRCm39) I378T possibly damaging Het
Rnf216 G T 5: 142,978,589 (GRCm39) P793T possibly damaging Het
Samd8 T C 14: 21,833,866 (GRCm39) probably null Het
Son T A 16: 91,454,490 (GRCm39) M1079K probably damaging Het
Spata7 T A 12: 98,624,596 (GRCm39) M166K probably benign Het
Spta1 G A 1: 174,044,767 (GRCm39) E1468K probably damaging Het
Taar3 A T 10: 23,825,705 (GRCm39) I84F possibly damaging Het
Tas2r107 T A 6: 131,636,977 (GRCm39) D24V possibly damaging Het
Tmc2 A G 2: 130,106,123 (GRCm39) R885G probably damaging Het
Tox3 C A 8: 90,984,687 (GRCm39) R164L probably benign Het
Ttc5 A G 14: 51,004,664 (GRCm39) I380T probably damaging Het
Vmn1r179 A G 7: 23,628,076 (GRCm39) N89S possibly damaging Het
Zfp944 T C 17: 22,557,846 (GRCm39) E467G probably benign Het
Zzef1 A T 11: 72,813,982 (GRCm39) D2857V possibly 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
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
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'- ACAGCGAACAGTAGGGCATC -3'
(R):5'- ATTTGGAGGCAGAGACCTCAG -3'

Sequencing Primer
(F):5'- CAACCAACGTGCGCCTTG -3'
(R):5'- AGAGACCTCAGGCGGCG -3'
Posted On 2018-05-21