Incidental Mutation 'R7101:Grin1'
ID 550800
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 045193-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7101 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 25181193-25209199 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 25186647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 770 (T770M)
Ref Sequence ENSEMBL: ENSMUSP00000109956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028335] [ENSMUST00000114307] [ENSMUST00000114308] [ENSMUST00000114310] [ENSMUST00000114312] [ENSMUST00000114314] [ENSMUST00000114317] [ENSMUST00000114318]
AlphaFold P35438
Predicted Effect probably damaging
Transcript: ENSMUST00000028335
AA Change: T749M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028335
Gene: ENSMUSG00000026959
AA Change: T749M

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 damaging
Transcript: ENSMUST00000114307
AA Change: T749M

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109946
Gene: ENSMUSG00000026959
AA Change: T749M

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: T770M

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109947
Gene: ENSMUSG00000026959
AA Change: T770M

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: T770M

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109949
Gene: ENSMUSG00000026959
AA Change: T770M

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: T749M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109951
Gene: ENSMUSG00000026959
AA Change: T749M

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: ENSMUST00000114314
AA Change: T749M

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109953
Gene: ENSMUSG00000026959
AA Change: T749M

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: ENSMUST00000114317
AA Change: T770M

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109956
Gene: ENSMUSG00000026959
AA Change: T770M

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: ENSMUST00000114318
AA Change: T770M

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109957
Gene: ENSMUSG00000026959
AA Change: T770M

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A G 8: 41,208,438 (GRCm39) D568G probably benign Het
Angpt1 T C 15: 42,386,965 (GRCm39) I130V probably benign Het
Ankrd11 G T 8: 123,622,194 (GRCm39) Q553K probably benign Het
Ankrd42 A T 7: 92,280,752 (GRCm39) H59Q possibly damaging Het
Ankrd52 C T 10: 128,218,249 (GRCm39) R318C probably damaging Het
Arrdc5 G A 17: 56,601,522 (GRCm39) T201M probably damaging Het
Atxn1l A G 8: 110,459,132 (GRCm39) S377P probably benign Het
Baz2a T C 10: 127,957,056 (GRCm39) F936S possibly damaging Het
Bicc1 T C 10: 70,766,483 (GRCm39) D913G probably damaging Het
Blnk T A 19: 40,961,082 (GRCm39) M21L probably benign Het
Cabin1 T C 10: 75,587,401 (GRCm39) H132R probably benign Het
Ccdc154 A G 17: 25,382,442 (GRCm39) H88R probably benign Het
Cfap20dc G T 14: 8,511,171 (GRCm38) S414R possibly damaging Het
Clic5 G T 17: 44,586,179 (GRCm39) A223S probably benign Het
Col28a1 T A 6: 8,014,795 (GRCm39) Y870F possibly damaging Het
Dhx37 G A 5: 125,502,006 (GRCm39) Q497* probably null Het
Dnah11 T C 12: 118,031,880 (GRCm39) T1763A probably benign Het
Dnajc13 T C 9: 104,042,221 (GRCm39) R2005G possibly damaging Het
Dop1a G A 9: 86,389,722 (GRCm39) G541S probably benign Het
Drosha C T 15: 12,865,153 (GRCm39) T627M probably damaging Het
Ephb3 C T 16: 21,037,268 (GRCm39) H455Y possibly damaging Het
Eri1 A C 8: 35,949,777 (GRCm39) C127G probably damaging Het
Faf1 A T 4: 109,783,153 (GRCm39) E548D probably benign Het
Gm3285 C A 10: 77,698,194 (GRCm39) C114* probably null Het
Gm9736 C T 10: 77,587,167 (GRCm39) V8I unknown Het
Gnptab A T 10: 88,276,174 (GRCm39) M1154L probably benign Het
Haus1 A G 18: 77,854,570 (GRCm39) S67P possibly damaging Het
Homer1 C A 13: 93,492,562 (GRCm39) Q184K probably benign Het
Hook2 A G 8: 85,723,680 (GRCm39) T401A probably benign Het
Il6st G A 13: 112,631,907 (GRCm39) probably null Het
Kcnh8 A T 17: 53,212,038 (GRCm39) D612V probably damaging Het
Ltbr C G 6: 125,289,763 (GRCm39) E144Q probably benign Het
Mcf2l G T 8: 13,063,579 (GRCm39) R961L possibly damaging Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myo1b G T 1: 51,797,160 (GRCm39) Q961K probably benign Het
Myo1h C A 5: 114,480,258 (GRCm39) T531N Het
Ngly1 G A 14: 16,283,445 (GRCm38) R408Q probably damaging Het
Nup133 T C 8: 124,632,966 (GRCm39) E1055G possibly damaging Het
Nutm2 A G 13: 50,626,934 (GRCm39) K363R probably benign Het
Obox8 A T 7: 14,066,752 (GRCm39) Y97* probably null Het
Odc1 A G 12: 17,597,319 (GRCm39) D7G probably benign Het
Ogfod2 C T 5: 124,252,558 (GRCm39) T182I unknown Het
Or2t49 A G 11: 58,393,379 (GRCm39) M7T probably benign Het
Or4c111 A T 2: 88,844,324 (GRCm39) V28E possibly damaging Het
Or8b12b T C 9: 37,684,287 (GRCm39) S111P probably damaging Het
Or8b46 G A 9: 38,450,966 (GRCm39) M258I probably benign Het
Parp4 A G 14: 56,827,430 (GRCm39) D188G probably benign Het
Phactr2 T C 10: 13,122,922 (GRCm39) E400G probably benign Het
Phlpp1 G A 1: 106,100,397 (GRCm39) V222M possibly damaging Het
Ppp1r16b T C 2: 158,603,683 (GRCm39) V536A probably damaging Het
Prex2 T C 1: 11,223,833 (GRCm39) V719A possibly damaging Het
Prpf8 C T 11: 75,381,226 (GRCm39) A242V possibly damaging Het
Prr14l A G 5: 32,986,771 (GRCm39) L908P probably damaging Het
Prrc2b A G 2: 32,117,005 (GRCm39) N2146D possibly damaging Het
Rtkn T C 6: 83,126,993 (GRCm39) V333A possibly damaging Het
Samd8 T C 14: 21,825,442 (GRCm39) Y196H probably benign Het
Six5 A G 7: 18,828,784 (GRCm39) T75A probably benign Het
Slc35a4 T A 18: 36,814,591 (GRCm39) L42H probably damaging Het
Svs3a A T 2: 164,131,933 (GRCm39) D168V probably damaging Het
Themis T A 10: 28,637,422 (GRCm39) Y175* probably null Het
Tspan33 G T 6: 29,716,783 (GRCm39) R180L probably benign Het
Ttc28 C T 5: 111,232,958 (GRCm39) S145F probably damaging Het
Txn2 G A 15: 77,810,878 (GRCm39) T102I unknown Het
Usp34 T A 11: 23,376,183 (GRCm39) V1908E Het
Vmn2r101 A G 17: 19,809,350 (GRCm39) I160V probably null Het
Vmn2r104 A T 17: 20,250,358 (GRCm39) C638S possibly damaging Het
Wdfy4 C T 14: 32,682,777 (GRCm39) R3136Q Het
Zan C A 5: 137,396,552 (GRCm39) A4335S unknown Het
Zfp180 G T 7: 23,803,958 (GRCm39) V126F probably benign Het
Zfp429 T A 13: 67,538,931 (GRCm39) D171V possibly damaging Het
Zfp638 T C 6: 83,931,708 (GRCm39) I798T 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
R6894:Grin1 UTSW 2 25,185,829 (GRCm39) missense probably damaging 1.00
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'- GGGGACTCTCAACTTTGTGG -3'
(R):5'- TTATGAGAGTGCAGCTGAGGC -3'

Sequencing Primer
(F):5'- ACTCTCAACTTTGTGGGAGGCTC -3'
(R):5'- CTGTGCGGGACAAGTGAGC -3'
Posted On 2019-05-15