Incidental Mutation 'R7872:Grin1'
ID 608153
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 045924-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7872 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 25181193-25209199 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25188202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 509 (E509G)
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: E488G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000028335
Gene: ENSMUSG00000026959
AA Change: E488G

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: E488G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000109946
Gene: ENSMUSG00000026959
AA Change: E488G

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: E509G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000109947
Gene: ENSMUSG00000026959
AA Change: E509G

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: E509G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000109949
Gene: ENSMUSG00000026959
AA Change: E509G

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: E488G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000109951
Gene: ENSMUSG00000026959
AA Change: E488G

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: E488G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000109953
Gene: ENSMUSG00000026959
AA Change: E488G

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: E509G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000109956
Gene: ENSMUSG00000026959
AA Change: E509G

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: E509G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000109957
Gene: ENSMUSG00000026959
AA Change: E509G

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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 C T 19: 34,220,839 (GRCm39) D290N probably damaging Het
Adam18 T C 8: 25,101,116 (GRCm39) D682G probably benign Het
Ankrd46 A G 15: 36,485,989 (GRCm39) V88A possibly damaging Het
Ankub1 T A 3: 57,572,807 (GRCm39) K305I probably damaging Het
Atrn T A 2: 130,812,147 (GRCm39) probably null Het
Bambi A T 18: 3,511,406 (GRCm39) T76S probably benign Het
Cacna1a T A 8: 85,310,283 (GRCm39) V1447E probably damaging Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Clcn2 A G 16: 20,527,210 (GRCm39) M629T probably damaging Het
Clcn4 T C 7: 7,290,780 (GRCm39) N673S probably benign Het
Col20a1 T C 2: 180,628,371 (GRCm39) F15S probably benign Het
Col2a1 G A 15: 97,898,458 (GRCm39) Q39* probably null Het
Creb3 A G 4: 43,563,332 (GRCm39) E119G probably benign Het
Dnah5 A C 15: 28,245,830 (GRCm39) D556A probably damaging Het
Edar C T 10: 58,446,348 (GRCm39) M192I possibly damaging Het
Fam91a1 A G 15: 58,320,209 (GRCm39) M634V probably benign Het
Fbxo10 C T 4: 45,051,699 (GRCm39) V471I not run Het
Fer1l5 T C 1: 36,460,967 (GRCm39) F2032L probably benign Het
Gm5150 A C 3: 16,060,485 (GRCm39) M1R probably null Het
Igkv10-94 C T 6: 68,681,913 (GRCm39) probably benign Het
Il18bp A G 7: 101,666,002 (GRCm39) Y59H possibly damaging Het
Ints8 A T 4: 11,254,062 (GRCm39) C17S probably benign Het
Kcnmb1 T C 11: 33,916,275 (GRCm39) Y74H probably damaging Het
Kpna1 T C 16: 35,843,565 (GRCm39) V313A probably benign Het
Lrp4 C T 2: 91,321,061 (GRCm39) T1029I possibly damaging Het
Lrrc7 A T 3: 158,059,099 (GRCm39) C3S probably damaging Het
Lyst C A 13: 13,810,450 (GRCm39) H707N probably benign Het
Map3k20 A G 2: 72,202,098 (GRCm39) K148R probably damaging Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Miip C T 4: 147,947,375 (GRCm39) G236S probably benign Het
Mocs1 T A 17: 49,746,561 (GRCm39) I177N probably damaging Het
Muc5b A G 7: 141,399,850 (GRCm39) D441G unknown Het
Ncoa1 T C 12: 4,328,186 (GRCm39) N884S probably benign Het
Or12j4 A G 7: 140,046,696 (GRCm39) N194S probably damaging Het
Or51a39 A G 7: 102,363,389 (GRCm39) V77A probably benign Het
Padi6 A T 4: 140,455,073 (GRCm39) F621L probably damaging Het
Pde8b C A 13: 95,223,347 (GRCm39) M197I possibly damaging Het
Pear1 T A 3: 87,659,522 (GRCm39) I771L probably benign Het
Poli A G 18: 70,655,891 (GRCm39) L281P probably damaging Het
Prdm12 T C 2: 31,530,231 (GRCm39) W41R probably damaging Het
Prkdc T G 16: 15,532,870 (GRCm39) S1500A probably benign Het
Prune2 T A 19: 17,096,798 (GRCm39) H767Q probably benign Het
Rasgef1b G A 5: 99,382,403 (GRCm39) Q196* probably null Het
Rnpc3 A T 3: 113,416,096 (GRCm39) L121* probably null Het
Rpp14 A G 14: 8,083,724 (GRCm38) M1V probably null Het
Ryr2 T A 13: 11,610,610 (GRCm39) D4072V probably damaging Het
Sgms1 T C 19: 32,102,765 (GRCm39) H314R probably damaging Het
Six4 CT C 12: 73,151,013 (GRCm39) probably benign Het
Slc37a3 A T 6: 39,324,244 (GRCm39) Y335N probably damaging Het
Tcp11l1 A T 2: 104,536,837 (GRCm39) H9Q probably benign Het
Tnrc6a T A 7: 122,779,057 (GRCm39) M1256K probably damaging Het
Trpc6 A G 9: 8,609,910 (GRCm39) N126S probably damaging Het
Tut4 T G 4: 108,374,715 (GRCm39) C933G probably damaging Het
Ubr4 T C 4: 139,120,373 (GRCm39) F266S possibly damaging Het
Uimc1 A G 13: 55,217,550 (GRCm39) V424A possibly damaging Het
Utrn T C 10: 12,573,873 (GRCm39) I1066V probably benign Het
Vmn1r204 A G 13: 22,740,404 (GRCm39) T12A probably benign Het
Vmn1r57 T A 7: 5,223,613 (GRCm39) I46N possibly damaging Het
Vmn1r91 T C 7: 19,835,839 (GRCm39) Y253H probably benign Het
Vmn2r14 T A 5: 109,369,219 (GRCm39) H118L probably benign Het
Zfp775 A G 6: 48,597,404 (GRCm39) K426R 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
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
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'- GGACCATAGTAGGCTTAGCAC -3'
(R):5'- ACGGGGCCTAATGACACATC -3'

Sequencing Primer
(F):5'- CCATAGTAGGCTTAGCACATGGG -3'
(R):5'- CCCAGGAAGCCGTGAGTACTAG -3'
Posted On 2019-12-20