Incidental Mutation 'R5103:Grin1'
ID 392457
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 042691-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5103 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 25181193-25209199 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25200433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 230 (M230L)
Ref Sequence ENSEMBL: ENSMUSP00000109957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028335] [ENSMUST00000114307] [ENSMUST00000114308] [ENSMUST00000114310] [ENSMUST00000114312] [ENSMUST00000114314] [ENSMUST00000114317] [ENSMUST00000114318]
AlphaFold P35438
Predicted Effect probably benign
Transcript: ENSMUST00000028335
AA Change: M209L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028335
Gene: ENSMUSG00000026959
AA Change: M209L

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: ENSMUST00000114307
AA Change: M209L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109946
Gene: ENSMUSG00000026959
AA Change: M209L

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: M230L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109947
Gene: ENSMUSG00000026959
AA Change: M230L

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 benign
Transcript: ENSMUST00000114310
AA Change: M230L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109949
Gene: ENSMUSG00000026959
AA Change: M230L

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
AA Change: M209L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109951
Gene: ENSMUSG00000026959
AA Change: M209L

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 benign
Transcript: ENSMUST00000114314
AA Change: M209L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109953
Gene: ENSMUSG00000026959
AA Change: M209L

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
AA Change: M230L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109956
Gene: ENSMUSG00000026959
AA Change: M230L

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 benign
Transcript: ENSMUST00000114318
AA Change: M230L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109957
Gene: ENSMUSG00000026959
AA Change: M230L

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 noncoding transcript
Transcript: ENSMUST00000144402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155627
Meta Mutation Damage Score 0.0583 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 99% (82/83)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,051,345 (GRCm39) R518H probably damaging Het
Agfg1 T C 1: 82,871,288 (GRCm39) S486P probably damaging Het
Arhgap18 A G 10: 26,745,978 (GRCm39) D283G probably damaging Het
Asb1 A G 1: 91,480,066 (GRCm39) N162S possibly damaging Het
Capn1 A G 19: 6,059,140 (GRCm39) Y274H probably damaging Het
Cdk5 A T 5: 24,627,833 (GRCm39) V30E probably damaging Het
Cep290 T G 10: 100,374,882 (GRCm39) L1376W probably damaging Het
Crybg1 T A 10: 43,873,944 (GRCm39) T1055S probably damaging Het
Cyp2c70 A G 19: 40,149,076 (GRCm39) Y357H probably damaging Het
Dlx6 AGG AG 6: 6,865,180 (GRCm39) probably null Het
Eml6 T A 11: 29,800,905 (GRCm39) E367V possibly damaging Het
Emp1 A G 6: 135,358,073 (GRCm39) T140A probably benign Het
Ergic3 T C 2: 155,850,545 (GRCm39) V74A probably benign Het
Fancm A T 12: 65,152,632 (GRCm39) L1029F probably damaging Het
Fank1 C A 7: 133,478,570 (GRCm39) C210* probably null Het
Fbxo31 T C 8: 122,279,101 (GRCm39) D462G probably damaging Het
Frem1 G A 4: 82,909,849 (GRCm39) A736V probably benign Het
Fshr T C 17: 89,404,796 (GRCm39) T56A possibly damaging Het
Gm5901 A T 7: 105,026,589 (GRCm39) probably null Het
Golga2 A G 2: 32,193,758 (GRCm39) E458G probably benign Het
Grik2 T A 10: 49,372,205 (GRCm39) I335F probably benign Het
Gtf2f1 C T 17: 57,311,519 (GRCm39) G297D probably damaging Het
H2-T5 T C 17: 36,472,577 (GRCm39) probably benign Het
Hacd1 T C 2: 14,045,724 (GRCm39) T136A probably damaging Het
Hdac5 T A 11: 102,087,109 (GRCm39) S24C probably damaging Het
Jtb T C 3: 90,139,394 (GRCm39) probably benign Het
Kif1a C T 1: 92,974,418 (GRCm39) G979E probably damaging Het
Mark2 T C 19: 7,261,868 (GRCm39) M345V probably damaging Het
Mfsd14b A G 13: 65,234,907 (GRCm39) V90A possibly damaging Het
Micu1 T C 10: 59,624,806 (GRCm39) Y283H possibly damaging Het
Mmp2 C T 8: 93,558,413 (GRCm39) R161* probably null Het
Mrpl2 G A 17: 46,960,964 (GRCm39) R286Q probably benign Het
Msh5 T C 17: 35,248,215 (GRCm39) I783V possibly damaging Het
Myo3b T A 2: 69,926,747 (GRCm39) F65I probably benign Het
Nat10 C A 2: 103,587,605 (GRCm39) V37L probably damaging Het
Nlrp1a T A 11: 70,990,352 (GRCm39) T967S probably damaging Het
Nolc1 A T 19: 46,070,103 (GRCm39) K291* probably null Het
Or1j18 A T 2: 36,624,680 (GRCm39) T116S probably benign Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or8d2b G T 9: 38,788,872 (GRCm39) M133I probably damaging Het
Or8u8 C A 2: 86,011,960 (GRCm39) R165L probably benign Het
Paip1 A G 13: 119,574,515 (GRCm39) E70G possibly damaging Het
Palmd T A 3: 116,721,070 (GRCm39) E127V probably damaging Het
Paqr6 T A 3: 88,275,024 (GRCm39) C262* probably null Het
Pdcd11 A G 19: 47,112,893 (GRCm39) H1301R probably benign Het
Plce1 C A 19: 38,755,659 (GRCm39) D1896E probably damaging Het
Ppib A G 9: 65,968,747 (GRCm39) probably null Het
Pzp C T 6: 128,479,192 (GRCm39) V654M probably benign Het
Rab26 T C 17: 24,753,071 (GRCm39) probably benign Het
Recql4 A G 15: 76,590,956 (GRCm39) L468P probably damaging Het
Retreg1 C T 15: 25,968,540 (GRCm39) Q65* probably null Het
Rhpn1 C T 15: 75,586,064 (GRCm39) T659I possibly damaging Het
Rmc1 A G 18: 12,322,319 (GRCm39) I591V probably benign Het
Slc12a5 C A 2: 164,834,353 (GRCm39) H791Q probably damaging Het
Slc40a1 G A 1: 45,958,155 (GRCm39) Q93* probably null Het
Slc4a1 T C 11: 102,244,087 (GRCm39) M681V possibly damaging Het
Slc6a9 T A 4: 117,725,352 (GRCm39) F493L probably benign Het
Smc2 A G 4: 52,459,033 (GRCm39) E476G probably damaging Het
Smco4 G T 9: 15,456,090 (GRCm39) E59* probably null Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Stat4 T A 1: 52,111,054 (GRCm39) L167Q probably damaging Het
Sult1e1 C A 5: 87,724,091 (GRCm39) V289L probably benign Het
Tbc1d4 C A 14: 101,696,318 (GRCm39) E877* probably null Het
Tenm4 A T 7: 96,492,164 (GRCm39) I1033F probably damaging Het
Tppp2 T A 14: 52,156,909 (GRCm39) F95L probably benign Het
Trappc14 A G 5: 138,260,562 (GRCm39) V288A probably benign Het
Vmn2r41 G A 7: 8,141,341 (GRCm39) L708F probably benign Het
Washc5 G A 15: 59,222,018 (GRCm39) P126L probably damaging Het
Xkr4 T C 1: 3,740,911 (GRCm39) I221V probably benign Het
Xkr5 T C 8: 18,983,659 (GRCm39) R628G probably benign Het
Zfp207 T C 11: 80,282,736 (GRCm39) L233P probably damaging Het
Zfp827 T A 8: 79,797,032 (GRCm39) C373S 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
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
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'- ATTGTGGTCCTTCCTGTATCCA -3'
(R):5'- GGCCACCTGCTCTAGCTAAG -3'

Sequencing Primer
(F):5'- GCTACAGACAGTTCCCGATATGTG -3'
(R):5'- TCTAGCTAAGCTGCCTCGG -3'
Posted On 2016-06-15