Incidental Mutation 'R6894:Grin1'
ID 538191
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 044988-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6894 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 25181193-25209199 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25185829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 876 (V876E)
Ref Sequence ENSEMBL: ENSMUSP00000109956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028335] [ENSMUST00000028337] [ENSMUST00000114307] [ENSMUST00000114308] [ENSMUST00000114310] [ENSMUST00000114312] [ENSMUST00000114317] [ENSMUST00000114314] [ENSMUST00000114318]
AlphaFold P35438
Predicted Effect probably damaging
Transcript: ENSMUST00000028335
AA Change: V855E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028335
Gene: ENSMUSG00000026959
AA Change: V855E

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 damaging
Transcript: ENSMUST00000114307
AA Change: V855E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109946
Gene: ENSMUSG00000026959
AA Change: V855E

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 damaging
Transcript: ENSMUST00000114308
AA Change: V876E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109947
Gene: ENSMUSG00000026959
AA Change: V876E

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 damaging
Transcript: ENSMUST00000114310
AA Change: V876E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109949
Gene: ENSMUSG00000026959
AA Change: V876E

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 damaging
Transcript: ENSMUST00000114312
AA Change: V855E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109951
Gene: ENSMUSG00000026959
AA Change: V855E

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 probably damaging
Transcript: ENSMUST00000114317
AA Change: V876E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109956
Gene: ENSMUSG00000026959
AA Change: V876E

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
Predicted Effect probably damaging
Transcript: ENSMUST00000114314
AA Change: V855E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109953
Gene: ENSMUSG00000026959
AA Change: V855E

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 damaging
Transcript: ENSMUST00000114318
AA Change: V876E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109957
Gene: ENSMUSG00000026959
AA Change: V876E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik C A 2: 151,315,227 (GRCm39) L150F probably damaging Het
4930449I24Rik G A 5: 146,441,542 (GRCm39) E230K possibly damaging Het
4930449I24Rik A T 5: 146,441,543 (GRCm39) E230V probably benign Het
9430038I01Rik A G 7: 136,989,117 (GRCm39) C93R possibly damaging Het
Aoc1l2 G A 6: 48,907,596 (GRCm39) A199T probably damaging Het
Apobec1 T C 6: 122,568,201 (GRCm39) probably benign Het
Arl4c T A 1: 88,629,097 (GRCm39) D97V probably damaging Het
Ash1l A G 3: 88,890,298 (GRCm39) T726A probably benign Het
Asz1 A C 6: 18,055,520 (GRCm39) F359V probably damaging Het
Atr T A 9: 95,809,250 (GRCm39) L1970H probably damaging Het
Baz2a G T 10: 127,959,450 (GRCm39) A1322S possibly damaging Het
Cd209e T A 8: 3,903,569 (GRCm39) I37F possibly damaging Het
Cd209f T C 8: 4,155,477 (GRCm39) K37R probably benign Het
Cd5 G C 19: 10,716,203 (GRCm39) S3C possibly damaging Het
Clec16a A T 16: 10,462,718 (GRCm39) I260F probably damaging Het
Cltc A T 11: 86,603,428 (GRCm39) Y799* probably null Het
Cplane1 T C 15: 8,216,852 (GRCm39) L690P probably damaging Het
Csde1 G A 3: 102,951,972 (GRCm39) V258I possibly damaging Het
Dennd5a G T 7: 109,500,325 (GRCm39) H909Q probably damaging Het
Dnah12 A G 14: 26,456,904 (GRCm39) D890G probably damaging Het
Dnah2 A T 11: 69,375,086 (GRCm39) M1379K probably benign Het
Dpp10 A T 1: 123,264,593 (GRCm39) I743N probably damaging Het
Dpp9 T A 17: 56,495,321 (GRCm39) T815S probably damaging Het
Ears2 T C 7: 121,647,447 (GRCm39) N279S probably damaging Het
Ect2l A G 10: 18,045,128 (GRCm39) probably null Het
Eomes C G 9: 118,310,353 (GRCm39) P288A probably damaging Het
Fat3 T C 9: 15,909,072 (GRCm39) D2310G probably damaging Het
Fignl2 T C 15: 100,951,854 (GRCm39) T143A probably benign Het
Gdf9 A G 11: 53,327,646 (GRCm39) K201E possibly damaging Het
Gfra3 C T 18: 34,828,710 (GRCm39) R228Q probably damaging Het
Igkv12-41 A C 6: 69,835,635 (GRCm39) V39G probably damaging Het
Kat7 A T 11: 95,174,910 (GRCm39) M367K possibly damaging Het
Ly6d T C 15: 74,634,654 (GRCm39) K33E possibly damaging Het
Lztfl1 T C 9: 123,529,998 (GRCm39) N273S possibly damaging Het
Macf1 T A 4: 123,377,480 (GRCm39) I1485F possibly damaging Het
Marchf10 G T 11: 105,287,787 (GRCm39) L172I possibly damaging Het
Mdn1 T G 4: 32,748,614 (GRCm39) S4220A possibly damaging Het
Muc16 A G 9: 18,406,872 (GRCm39) V8460A possibly damaging Het
Myh14 A G 7: 44,282,936 (GRCm39) F769L probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Mylk4 A G 13: 32,905,998 (GRCm39) L395P probably damaging Het
Nat8f6 A T 6: 85,785,504 (GRCm39) L215* probably null Het
Nell2 T C 15: 95,244,768 (GRCm39) D443G probably damaging Het
Nkx6-3 A G 8: 23,647,632 (GRCm39) K197R probably benign Het
Nt5c3 A T 6: 56,859,958 (GRCm39) L293* probably null Het
Ntrk1 A T 3: 87,690,109 (GRCm39) V429D probably damaging Het
Obscn A G 11: 59,023,508 (GRCm39) V623A probably benign Het
Or2o1 T C 11: 49,051,186 (GRCm39) F115S probably benign Het
Or4c1 A G 2: 89,133,837 (GRCm39) L33S probably damaging Het
Or5ac21 A G 16: 59,124,142 (GRCm39) T209A probably damaging Het
Or5p5 C T 7: 107,414,271 (GRCm39) T160I probably benign Het
Or6c74 T C 10: 129,870,178 (GRCm39) S228P probably damaging Het
Or8k22 A T 2: 86,163,295 (GRCm39) I135N probably damaging Het
Pate3 T A 9: 35,557,969 (GRCm39) D33V probably damaging Het
Pcnx1 T A 12: 82,034,747 (GRCm39) I1843N probably damaging Het
Pla2g4f A T 2: 120,134,077 (GRCm39) I503N probably benign Het
Prkg1 C A 19: 30,602,174 (GRCm39) E361* probably null Het
Proca1 A G 11: 78,085,613 (GRCm39) probably benign Het
Prss38 G T 11: 59,263,850 (GRCm39) H287Q probably benign Het
Ptpdc1 T C 13: 48,744,114 (GRCm39) E169G probably benign Het
Ptpn21 T C 12: 98,681,440 (GRCm39) S65G probably damaging Het
Rfx6 A T 10: 51,592,135 (GRCm39) H177L probably damaging Het
Slc20a2 G A 8: 23,050,609 (GRCm39) G276D possibly damaging Het
Spag6l A T 16: 16,601,802 (GRCm39) L159I probably damaging Het
Spata31f1a G A 4: 42,850,291 (GRCm39) P622S probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Stk33 T A 7: 108,935,269 (GRCm39) E174D possibly damaging Het
Stxbp5 A T 10: 9,660,105 (GRCm39) V730E probably benign Het
Tmprss15 A T 16: 78,872,702 (GRCm39) L168* probably null Het
Tnrc18 A T 5: 142,745,804 (GRCm39) M1323K unknown Het
Tpr T C 1: 150,312,598 (GRCm39) V1932A probably benign Het
Trak2 A G 1: 58,950,892 (GRCm39) S432P probably damaging Het
Ttn A T 2: 76,738,534 (GRCm39) F4002I probably benign Het
Txndc11 G A 16: 10,906,009 (GRCm39) T507I probably damaging Het
Usp12 G A 5: 146,691,349 (GRCm39) T135I possibly damaging Het
Vit T A 17: 78,934,187 (GRCm39) Y596* probably null Het
Vmn1r32 A T 6: 66,530,345 (GRCm39) Y144N possibly damaging Het
Vmn2r80 G T 10: 79,005,438 (GRCm39) L358F probably benign Het
Zfp382 T G 7: 29,825,261 (GRCm39) S38A 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
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
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'- CTTGGGAACACTCACCACTG -3'
(R):5'- TTTTGAGAACATGGCAGGTGC -3'

Sequencing Primer
(F):5'- ACTCACCACTGCCCCTGG -3'
(R):5'- CCGTGATCCTGGGATGGATTCTC -3'
Posted On 2018-11-06