Incidental Mutation 'R1454:Grin1'
ID 162183
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 039509-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1454 (G1)
Quality Score 137
Status Validated
Chromosome 2
Chromosomal Location 25181193-25209199 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 25182442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 940 (R940*)
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 probably null
Transcript: ENSMUST00000028335
AA Change: R919*
SMART Domains Protein: ENSMUSP00000028335
Gene: ENSMUSG00000026959
AA Change: R919*

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 null
Transcript: ENSMUST00000114307
AA Change: R882*
SMART Domains Protein: ENSMUSP00000109946
Gene: ENSMUSG00000026959
AA Change: R882*

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 null
Transcript: ENSMUST00000114308
AA Change: R903*
SMART Domains Protein: ENSMUSP00000109947
Gene: ENSMUSG00000026959
AA Change: R903*

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 probably null
Transcript: ENSMUST00000114310
AA Change: R940*
SMART Domains Protein: ENSMUSP00000109949
Gene: ENSMUSG00000026959
AA Change: R940*

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: ENSMUST00000127171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129723
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
Meta Mutation Damage Score 0.9633 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.2%
Validation Efficiency 97% (58/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 A G 16: 85,666,881 (GRCm39) V537A possibly damaging Het
Adcy10 A T 1: 165,342,949 (GRCm39) I272F possibly damaging Het
Adcy6 A G 15: 98,502,609 (GRCm39) S2P probably damaging Het
Agap1 A G 1: 89,765,528 (GRCm39) probably null Het
Aldh3a2 A G 11: 61,155,928 (GRCm39) V116A probably benign Het
Ankdd1b A T 13: 96,569,913 (GRCm39) probably null Het
Antxrl G A 14: 33,782,906 (GRCm39) V233I probably damaging Het
Atp8b5 A G 4: 43,302,590 (GRCm39) I38V probably benign Het
Atxn7l2 A G 3: 108,115,748 (GRCm39) probably benign Het
Bfsp2 A T 9: 103,357,424 (GRCm39) M1K probably null Het
Camsap3 T A 8: 3,653,968 (GRCm39) I520N possibly damaging Het
Cenpc1 C T 5: 86,161,369 (GRCm39) V854I possibly damaging Het
Csnk2a1 T C 2: 152,099,347 (GRCm39) L88S probably damaging Het
Dcaf17 A G 2: 70,903,517 (GRCm39) N171D probably damaging Het
Dctn1 G C 6: 83,174,490 (GRCm39) A1077P possibly damaging Het
Dock1 T C 7: 134,453,338 (GRCm39) probably benign Het
Egfr A T 11: 16,839,920 (GRCm39) I645L probably benign Het
Gdpd1 T G 11: 86,950,335 (GRCm39) K79N possibly damaging Het
Ggt5 A T 10: 75,445,742 (GRCm39) L432F probably benign Het
Gm11060 A G 2: 104,924,097 (GRCm39) T22A unknown Het
Gpr132 G A 12: 112,815,860 (GRCm39) T322I possibly damaging Het
Hip1 T C 5: 135,467,486 (GRCm39) T316A probably benign Het
Hnrnpm A G 17: 33,885,462 (GRCm39) probably benign Het
Hsd3b5 G A 3: 98,526,846 (GRCm39) T200I probably benign Het
Hspa9 A T 18: 35,071,659 (GRCm39) L647H probably damaging Het
Itgad T C 7: 127,791,309 (GRCm39) I727T probably benign Het
Kcnma1 T C 14: 23,513,268 (GRCm39) D522G probably damaging Het
Lipf C T 19: 33,948,132 (GRCm39) probably benign Het
Ly6i T C 15: 74,854,904 (GRCm39) D2G possibly damaging Het
Mast1 G A 8: 85,647,264 (GRCm39) P631L probably damaging Het
Mmp1b G C 9: 7,386,693 (GRCm39) L144V probably damaging Het
Msh6 A G 17: 88,292,186 (GRCm39) S314G probably benign Het
Myo5c G A 9: 75,170,348 (GRCm39) V493I possibly damaging Het
Nefm A G 14: 68,358,828 (GRCm39) L402P probably damaging Het
Nrxn2 T C 19: 6,531,476 (GRCm39) F697S probably damaging Het
Or13c7b A T 4: 43,820,639 (GRCm39) C241S probably damaging Het
Pex13 A G 11: 23,599,422 (GRCm39) I363T probably benign Het
Plcb3 T C 19: 6,932,414 (GRCm39) R1082G possibly damaging Het
Psg28 A T 7: 18,161,889 (GRCm39) S205T possibly damaging Het
Pxt1 C A 17: 29,153,756 (GRCm39) V26L possibly damaging Het
Ripk2 G A 4: 16,163,239 (GRCm39) T53M probably damaging Het
Slc5a9 A G 4: 111,741,161 (GRCm39) V495A probably benign Het
Snrpa T C 7: 26,892,362 (GRCm39) K66R probably benign Het
Srgap1 T A 10: 121,732,643 (GRCm39) E145V probably damaging Het
Suz12 A G 11: 79,922,939 (GRCm39) T694A probably benign Het
Tatdn2 T A 6: 113,681,288 (GRCm39) D440E probably benign Het
Tbc1d21 A G 9: 58,270,096 (GRCm39) probably null Het
Tbc1d31 T A 15: 57,815,034 (GRCm39) Y570* probably null Het
Tbc1d32 A T 10: 56,053,575 (GRCm39) probably benign Het
Tdrd5 G C 1: 156,087,406 (GRCm39) Q839E probably benign Het
Tecpr2 A G 12: 110,935,387 (GRCm39) N1402S probably benign Het
Thbs1 A G 2: 117,953,153 (GRCm39) D921G probably damaging Het
Tll1 A G 8: 64,491,524 (GRCm39) V803A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm4 T C 7: 44,966,480 (GRCm39) E461G probably damaging Het
Zp3 T A 5: 136,013,042 (GRCm39) I152N probably damaging 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
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
R4775:Grin1 UTSW 2 25,182,475 (GRCm39) missense possibly damaging 0.92
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'- TACACAGACAAGGCGGCCCGTTAG -3'
(R):5'- AGCTGCTGAGATCCTTTGCCCC -3'

Sequencing Primer
(F):5'- GGCCCGTTAGCTCCGAC -3'
(R):5'- GAGATCCTTTGCCCCTGTCC -3'
Posted On 2014-03-14