Incidental Mutation 'R4775:Grin1'
ID 367822
Institutional Source Beutler Lab
Gene Symbol Grin1
Ensembl Gene ENSMUSG00000026959
Gene Name glutamate receptor, ionotropic, NMDA1 (zeta 1)
Synonyms NR1, GluRzeta1, NMDAR1, M100174, Nmdar, Rgsc174
MMRRC Submission 041991-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4775 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 25181193-25209199 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25182475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 929 (A929T)
Ref Sequence ENSEMBL: ENSMUSP00000109949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028335] [ENSMUST00000028337] [ENSMUST00000028340] [ENSMUST00000114307] [ENSMUST00000114308] [ENSMUST00000114310] [ENSMUST00000114312] [ENSMUST00000114318] [ENSMUST00000114314] [ENSMUST00000114317]
AlphaFold P35438
Predicted Effect possibly damaging
Transcript: ENSMUST00000028335
AA Change: A908T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028335
Gene: ENSMUSG00000026959
AA Change: A908T

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 38 357 6.6e-35 PFAM
PBPe 433 795 2.71e-97 SMART
Lig_chan-Glu_bd 439 507 2.99e-18 SMART
Pfam:CaM_bdg_C0 835 863 1.5e-18 PFAM
PDB:3BYA|B 875 898 4e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000028337
SMART Domains Protein: ENSMUSP00000028337
Gene: ENSMUSG00000026961

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LRRNT 42 75 1.86e0 SMART
LRR 72 93 7.57e0 SMART
LRR 95 117 6.96e0 SMART
LRR_TYP 118 141 1e-5 SMART
LRR 142 165 6.22e0 SMART
LRR 166 189 2.86e-1 SMART
LRRCT 201 254 3.01e-5 SMART
transmembrane domain 267 289 N/A INTRINSIC
low complexity region 293 308 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000028340
SMART Domains Protein: ENSMUSP00000028340
Gene: ENSMUSG00000026963

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:TMEM210 32 144 1.1e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114307
AA Change: A871T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109946
Gene: ENSMUSG00000026959
AA Change: A871T

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 38 357 1e-34 PFAM
PBPe 433 795 2.71e-97 SMART
Lig_chan-Glu_bd 439 507 2.99e-18 SMART
Pfam:CaM_bdg_C0 835 863 3.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114308
AA Change: A892T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109947
Gene: ENSMUSG00000026959
AA Change: A892T

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 38 378 8e-31 PFAM
PBPe 454 816 2.71e-97 SMART
Lig_chan-Glu_bd 460 528 2.99e-18 SMART
Pfam:CaM_bdg_C0 856 884 3.3e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114310
AA Change: A929T

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109949
Gene: ENSMUSG00000026959
AA Change: A929T

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 39 299 3.6e-24 PFAM
Blast:PBPe 352 420 9e-37 BLAST
PBPe 454 816 2.71e-97 SMART
Lig_chan-Glu_bd 460 528 2.99e-18 SMART
Pfam:CaM_bdg_C0 856 884 8.4e-17 PFAM
PDB:3BYA|B 896 919 4e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000114312
SMART Domains Protein: ENSMUSP00000109951
Gene: ENSMUSG00000026959

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 38 357 5.9e-35 PFAM
PBPe 433 795 2.71e-97 SMART
Lig_chan-Glu_bd 439 507 2.99e-18 SMART
Pfam:CaM_bdg_C0 835 863 1.4e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127171
Predicted Effect probably benign
Transcript: ENSMUST00000114318
SMART Domains Protein: ENSMUSP00000109957
Gene: ENSMUSG00000026959

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 38 378 8.4e-31 PFAM
PBPe 454 816 2.71e-97 SMART
Lig_chan-Glu_bd 460 528 2.99e-18 SMART
Pfam:CaM_bdg_C0 856 884 3.4e-19 PFAM
PDB:3BYA|B 896 919 4e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000114314
SMART Domains Protein: ENSMUSP00000109953
Gene: ENSMUSG00000026959

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 38 357 1.1e-34 PFAM
PBPe 433 795 2.71e-97 SMART
Lig_chan-Glu_bd 439 507 2.99e-18 SMART
Pfam:CaM_bdg_C0 835 863 3.3e-19 PFAM
PDB:3BYA|B 875 898 4e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000114317
SMART Domains Protein: ENSMUSP00000109956
Gene: ENSMUSG00000026959

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 38 378 7.7e-31 PFAM
PBPe 454 816 2.71e-97 SMART
Lig_chan-Glu_bd 460 528 2.99e-18 SMART
Pfam:CaM_bdg_C0 856 884 3.3e-19 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Null mutants lack whisker patterns in brain cortex, are ataxic and die neonatally of respiratory failure. Hypomorph mutants exhibit hyperactivity, stereotypy, and impaired social/sexual interactions. Mice homozygous for an ENU-induced allele exhibit abnormal behavior and neuron physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,134,165 (GRCm39) Y426C probably damaging Het
Adam7 A G 14: 68,745,361 (GRCm39) I621T probably benign Het
Adamts1 A T 16: 85,597,278 (GRCm39) Y260* probably null Het
Adgrf1 C T 17: 43,622,054 (GRCm39) L764F probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Atp9b A G 18: 80,808,984 (GRCm39) probably null Het
C5ar2 A C 7: 15,971,540 (GRCm39) L129R probably damaging Het
Ccdc174 G A 6: 91,867,875 (GRCm39) probably null Het
Cidec T C 6: 113,411,695 (GRCm39) M1V probably null Het
Clec16a G T 16: 10,456,778 (GRCm39) R663L probably damaging Het
Col25a1 T C 3: 129,976,468 (GRCm39) C118R possibly damaging Het
Cox6b2 A G 7: 4,755,074 (GRCm39) C67R probably damaging Het
Cspg4b A T 13: 113,454,229 (GRCm39) I92F possibly damaging Het
Cwf19l2 A G 9: 3,430,973 (GRCm39) Y435C probably benign Het
Dapk1 T A 13: 60,897,156 (GRCm39) S792T probably benign Het
Dis3l T A 9: 64,238,190 (GRCm39) N101Y probably benign Het
Dsg4 A G 18: 20,604,184 (GRCm39) T884A possibly damaging Het
Dvl1 T C 4: 155,942,584 (GRCm39) W617R probably benign Het
Eml5 A G 12: 98,768,566 (GRCm39) V1503A probably benign Het
Engase A T 11: 118,373,497 (GRCm39) D280V probably benign Het
F11r T C 1: 171,289,209 (GRCm39) S224P probably damaging Het
Fanca A G 8: 124,023,045 (GRCm39) V564A probably damaging Het
Foxj2 G T 6: 122,810,230 (GRCm39) Q196H probably benign Het
Gle1 T C 2: 29,826,073 (GRCm39) W51R possibly damaging Het
Gm94 A G 18: 43,925,836 (GRCm39) probably null Het
Gm9830 A T 9: 44,375,721 (GRCm39) noncoding transcript Het
Gpaa1 T A 15: 76,218,891 (GRCm39) probably null Het
Grm7 T A 6: 110,891,332 (GRCm39) D188E probably damaging Het
Gtf2ird2 T C 5: 134,242,970 (GRCm39) F395L probably benign Het
Lipo3 C A 19: 33,757,795 (GRCm39) G225C probably damaging Het
Lonrf2 T A 1: 38,857,140 (GRCm39) probably null Het
Marveld2 A G 13: 100,753,303 (GRCm39) probably benign Het
Mpl A G 4: 118,305,777 (GRCm39) L416P probably damaging Het
Mppe1 A G 18: 67,359,930 (GRCm39) L312P possibly damaging Het
Mpzl3 T A 9: 44,977,730 (GRCm39) S113T probably damaging Het
Mylk3 G A 8: 86,085,689 (GRCm39) Q149* probably null Het
Myt1 T A 2: 181,464,470 (GRCm39) I968N probably damaging Het
Ndc80 A G 17: 71,821,265 (GRCm39) Y228H probably damaging Het
Nelfcd T G 2: 174,268,369 (GRCm39) C520G probably damaging Het
Nfrkb C A 9: 31,330,345 (GRCm39) T1199K possibly damaging Het
Nipa2 A G 7: 55,585,611 (GRCm39) I109T probably benign Het
Nlrp4e A G 7: 23,042,525 (GRCm39) T804A probably benign Het
Nsf A T 11: 103,763,419 (GRCm39) I395K possibly damaging Het
Nt5c1b G A 12: 10,425,449 (GRCm39) V331I probably damaging Het
Or13a28 A T 7: 140,217,829 (GRCm39) I72F probably damaging Het
Or1e29 A G 11: 73,667,377 (GRCm39) Y259H probably damaging Het
Pask T C 1: 93,265,246 (GRCm39) D3G probably damaging Het
Pglyrp3 T C 3: 91,933,037 (GRCm39) V110A possibly damaging Het
Ppp4r3a C T 12: 101,019,825 (GRCm39) V377M probably damaging Het
Prr12 A G 7: 44,700,749 (GRCm39) probably benign Het
Ptdss1 G A 13: 67,135,922 (GRCm39) probably null Het
Qser1 A G 2: 104,620,246 (GRCm39) S189P probably damaging Het
Rph3a T A 5: 121,092,551 (GRCm39) Y350F probably benign Het
Skint4 A T 4: 111,993,261 (GRCm39) H328L probably damaging Het
Smyd4 G A 11: 75,282,018 (GRCm39) C497Y probably damaging Het
Stk11ip T C 1: 75,510,497 (GRCm39) W864R possibly damaging Het
Stkld1 T A 2: 26,841,757 (GRCm39) V543E probably damaging Het
Taok2 A G 7: 126,469,940 (GRCm39) S963P probably damaging Het
Tars2 A G 3: 95,653,959 (GRCm39) L354P probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpcn2 A G 7: 144,821,079 (GRCm39) L325P probably damaging Het
Trappc3l C G 10: 33,974,807 (GRCm39) H96Q probably benign Het
Trim66 A T 7: 109,056,796 (GRCm39) Y1120* probably null Het
Trio G A 15: 27,881,428 (GRCm39) Q548* probably null Het
Wipf2 T A 11: 98,781,558 (GRCm39) D32E probably benign Het
Other mutations in Grin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01383:Grin1 APN 2 25,186,979 (GRCm39) missense possibly damaging 0.93
IGL01627:Grin1 APN 2 25,208,709 (GRCm39) missense probably damaging 1.00
IGL02039:Grin1 APN 2 25,195,354 (GRCm39) missense probably damaging 0.98
IGL02074:Grin1 APN 2 25,188,514 (GRCm39) missense possibly damaging 0.81
IGL02083:Grin1 APN 2 25,188,513 (GRCm39) missense possibly damaging 0.93
IGL03334:Grin1 APN 2 25,188,405 (GRCm39) critical splice donor site probably null
IGL03349:Grin1 APN 2 25,200,448 (GRCm39) missense probably benign
PIT4283001:Grin1 UTSW 2 25,187,864 (GRCm39) missense probably damaging 1.00
R0038:Grin1 UTSW 2 25,187,471 (GRCm39) missense probably null 0.82
R0829:Grin1 UTSW 2 25,188,460 (GRCm39) missense probably benign 0.08
R1454:Grin1 UTSW 2 25,182,442 (GRCm39) nonsense probably null
R1550:Grin1 UTSW 2 25,195,143 (GRCm39) missense probably benign 0.01
R1969:Grin1 UTSW 2 25,187,927 (GRCm39) missense probably benign 0.01
R2057:Grin1 UTSW 2 25,206,832 (GRCm39) missense probably damaging 1.00
R2424:Grin1 UTSW 2 25,208,664 (GRCm39) missense probably null 1.00
R2877:Grin1 UTSW 2 25,187,641 (GRCm39) missense probably damaging 1.00
R2878:Grin1 UTSW 2 25,187,641 (GRCm39) missense probably damaging 1.00
R3420:Grin1 UTSW 2 25,193,926 (GRCm39) missense probably damaging 0.97
R3422:Grin1 UTSW 2 25,193,926 (GRCm39) missense probably damaging 0.97
R3958:Grin1 UTSW 2 25,203,465 (GRCm39) missense probably damaging 1.00
R4222:Grin1 UTSW 2 25,187,332 (GRCm39) intron probably benign
R4224:Grin1 UTSW 2 25,187,332 (GRCm39) intron probably benign
R4225:Grin1 UTSW 2 25,187,332 (GRCm39) intron probably benign
R4409:Grin1 UTSW 2 25,200,451 (GRCm39) missense possibly damaging 0.75
R4723:Grin1 UTSW 2 25,184,482 (GRCm39) missense probably benign 0.30
R4783:Grin1 UTSW 2 25,182,393 (GRCm39) missense possibly damaging 0.86
R4784:Grin1 UTSW 2 25,182,393 (GRCm39) missense possibly damaging 0.86
R4785:Grin1 UTSW 2 25,182,393 (GRCm39) missense possibly damaging 0.86
R4829:Grin1 UTSW 2 25,208,736 (GRCm39) missense possibly damaging 0.47
R4915:Grin1 UTSW 2 25,188,565 (GRCm39) intron probably benign
R5064:Grin1 UTSW 2 25,193,843 (GRCm39) intron probably benign
R5103:Grin1 UTSW 2 25,200,433 (GRCm39) missense probably benign
R5125:Grin1 UTSW 2 25,186,839 (GRCm39) intron probably benign
R5215:Grin1 UTSW 2 25,193,919 (GRCm39) missense probably benign 0.00
R5419:Grin1 UTSW 2 25,188,285 (GRCm39) splice site probably null
R6119:Grin1 UTSW 2 25,195,170 (GRCm39) missense probably damaging 1.00
R6616:Grin1 UTSW 2 25,182,122 (GRCm39) missense possibly damaging 0.82
R6894:Grin1 UTSW 2 25,185,829 (GRCm39) missense probably damaging 1.00
R7101:Grin1 UTSW 2 25,186,647 (GRCm39) missense probably damaging 0.98
R7137:Grin1 UTSW 2 25,203,550 (GRCm39) missense probably benign
R7544:Grin1 UTSW 2 25,195,086 (GRCm39) missense probably benign 0.05
R7693:Grin1 UTSW 2 25,208,679 (GRCm39) missense possibly damaging 0.93
R7872:Grin1 UTSW 2 25,188,202 (GRCm39) missense probably benign 0.01
R7986:Grin1 UTSW 2 25,185,841 (GRCm39) missense probably damaging 1.00
R8350:Grin1 UTSW 2 25,188,323 (GRCm39) missense probably damaging 1.00
R8795:Grin1 UTSW 2 25,187,468 (GRCm39) missense probably damaging 0.99
R8960:Grin1 UTSW 2 25,195,428 (GRCm39) splice site probably benign
R9219:Grin1 UTSW 2 25,187,678 (GRCm39) missense possibly damaging 0.92
R9511:Grin1 UTSW 2 25,187,426 (GRCm39) missense probably damaging 1.00
R9525:Grin1 UTSW 2 25,187,472 (GRCm39) missense probably damaging 1.00
R9532:Grin1 UTSW 2 25,187,909 (GRCm39) missense probably damaging 1.00
R9686:Grin1 UTSW 2 25,203,522 (GRCm39) missense probably benign 0.01
R9729:Grin1 UTSW 2 25,187,422 (GRCm39) nonsense probably null
X0026:Grin1 UTSW 2 25,195,110 (GRCm39) missense probably benign 0.22
Z1176:Grin1 UTSW 2 25,187,919 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GTGGGATGGTACTGCTGTAAAATAG -3'
(R):5'- TTCTTCTGGGCCATCTGGAG -3'

Sequencing Primer
(F):5'- AGACAAGGCGGCCCGTTAG -3'
(R):5'- CTGTTCAGAGGGAGGCCTG -3'
Posted On 2015-12-29