Incidental Mutation 'R4409:Grin1'
ID 327785
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 041691-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4409 (G1)
Quality Score 216
Status Not validated
Chromosome 2
Chromosomal Location 25181193-25209199 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25200451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 224 (N224D)
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 benign
Transcript: ENSMUST00000028335
AA Change: N203D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000028335
Gene: ENSMUSG00000026959
AA Change: N203D

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: N203D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000109946
Gene: ENSMUSG00000026959
AA Change: N203D

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: N224D

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109947
Gene: ENSMUSG00000026959
AA Change: N224D

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: N224D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000109949
Gene: ENSMUSG00000026959
AA Change: N224D

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: N203D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109951
Gene: ENSMUSG00000026959
AA Change: N203D

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: N203D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000109953
Gene: ENSMUSG00000026959
AA Change: N203D

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 possibly damaging
Transcript: ENSMUST00000114317
AA Change: N224D

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109956
Gene: ENSMUSG00000026959
AA Change: N224D

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: N224D

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109957
Gene: ENSMUSG00000026959
AA Change: N224D

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A T 4: 144,447,872 (GRCm39) S35T possibly damaging Het
Abcb5 A C 12: 118,836,657 (GRCm39) L1085V probably damaging Het
Adgrf5 T C 17: 43,752,738 (GRCm39) V560A probably damaging Het
Ambp C A 4: 63,070,884 (GRCm39) S65I probably damaging Het
Ash1l A G 3: 88,914,506 (GRCm39) D1712G probably damaging Het
Capn7 T C 14: 31,077,296 (GRCm39) L338P probably damaging Het
Car2 T A 3: 14,960,162 (GRCm39) S105T probably damaging Het
Casr A G 16: 36,320,703 (GRCm39) C482R probably benign Het
Ccdc18 C T 5: 108,368,708 (GRCm39) Q1277* probably null Het
Clca3a1 A G 3: 144,711,788 (GRCm39) F736L probably damaging Het
Col6a1 T C 10: 76,557,334 (GRCm39) H206R probably benign Het
Crybg1 C T 10: 43,874,754 (GRCm39) A785T possibly damaging Het
Cyp2c68 T A 19: 39,727,896 (GRCm39) E85D probably damaging Het
Dnah9 T C 11: 65,976,303 (GRCm39) S1249G possibly damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Fbxw24 A T 9: 109,437,256 (GRCm39) D210E probably damaging Het
Fcgr1 T C 3: 96,191,893 (GRCm39) Y305C probably benign Het
Gm10226 G T 17: 21,910,876 (GRCm39) C37F possibly damaging Het
Greb1l A G 18: 10,503,182 (GRCm39) Y411C possibly damaging Het
H2-T5 T A 17: 36,476,742 (GRCm39) H244L possibly damaging Het
Ighmbp2 C T 19: 3,321,536 (GRCm39) V408I probably benign Het
Il1rap G A 16: 26,531,015 (GRCm39) probably null Het
Iqcg A G 16: 32,865,888 (GRCm39) probably null Het
Klhdc3 C T 17: 46,987,944 (GRCm39) G249E probably damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Macrod2 T G 2: 140,260,777 (GRCm39) H68Q possibly damaging Het
Morn4 T C 19: 42,066,986 (GRCm39) T2A possibly damaging Het
Msc G C 1: 14,825,902 (GRCm39) P24R probably damaging Het
Msh5 T C 17: 35,258,226 (GRCm39) D300G probably damaging Het
Myo10 A G 15: 25,807,955 (GRCm39) Y1859C probably damaging Het
Nacc1 A G 8: 85,399,673 (GRCm39) *515Q probably null Het
Or1ad6 T A 11: 50,860,223 (GRCm39) I126N probably damaging Het
Or4n5 T A 14: 50,133,230 (GRCm39) T10S probably benign Het
Or5g29 T C 2: 85,421,274 (GRCm39) L130S probably damaging Het
Oxgr1 C T 14: 120,259,572 (GRCm39) V212M possibly damaging Het
P3h2 G C 16: 25,924,040 (GRCm39) R132G possibly damaging Het
Pcdha9 T A 18: 37,132,198 (GRCm39) H422Q probably benign Het
Pcdhga12 A G 18: 37,901,138 (GRCm39) T657A probably damaging Het
Pcx A G 19: 4,660,031 (GRCm39) K442R possibly damaging Het
Pkd2 T C 5: 104,614,750 (GRCm39) silent Het
Plg T G 17: 12,609,150 (GRCm39) C152G probably damaging Het
Plk4 A G 3: 40,760,984 (GRCm39) E438G probably damaging Het
Ryr3 A G 2: 112,560,653 (GRCm39) L3016P probably damaging Het
Sdccag8 T G 1: 176,695,932 (GRCm39) probably null Het
Slc24a1 A T 9: 64,855,506 (GRCm39) M467K probably benign Het
Sorl1 T G 9: 41,946,744 (GRCm39) I856L probably damaging Het
Spag7 T C 11: 70,555,688 (GRCm39) D83G probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmprss11b T C 5: 86,812,137 (GRCm39) N170S probably benign Het
Tnfrsf1b G A 4: 144,950,855 (GRCm39) Q253* probably null Het
Trim12a G A 7: 103,956,201 (GRCm39) A113V probably benign Het
Ttn A G 2: 76,727,987 (GRCm39) probably benign Het
Vmn1r213 A C 13: 23,195,593 (GRCm39) probably benign Het
Vmn1r54 C A 6: 90,246,864 (GRCm39) Y259* probably null Het
Vmn1r55 A G 7: 5,150,075 (GRCm39) V116A probably benign Het
Vmn2r120 T C 17: 57,816,477 (GRCm39) N626S probably damaging Het
Vmn2r58 A G 7: 41,522,051 (GRCm39) F15S possibly damaging Het
Vmn2r73 A T 7: 85,520,768 (GRCm39) V400E probably damaging Het
Zbtb39 A G 10: 127,578,696 (GRCm39) I423M possibly damaging Het
Zfp352 A G 4: 90,113,401 (GRCm39) N514D probably benign Het
Zfp451 A T 1: 33,816,494 (GRCm39) H485Q 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
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'- TTTGAATTGAAACTTGTTTTGCCC -3'
(R):5'- TCCAGCAAGTTGAAGAAGAGAC -3'

Sequencing Primer
(F):5'- GAAACTTGTTTTGCCCAATAGCGC -3'
(R):5'- GCAGCAAGGACAGGCCAC -3'
Posted On 2015-07-07