Incidental Mutation 'R8333:Grid1'
ID 644487
Institutional Source Beutler Lab
Gene Symbol Grid1
Ensembl Gene ENSMUSG00000041078
Gene Name glutamate receptor, ionotropic, delta 1
Synonyms GluRdelta1
MMRRC Submission 067861-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R8333 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 34542065-35305336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35291595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 834 (V834A)
Ref Sequence ENSEMBL: ENSMUSP00000044009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043349]
AlphaFold Q61627
Predicted Effect possibly damaging
Transcript: ENSMUST00000043349
AA Change: V834A

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044009
Gene: ENSMUSG00000041078
AA Change: V834A

DomainStartEndE-ValueType
Pfam:ANF_receptor 36 400 4.1e-51 PFAM
PBPe 438 807 4.68e-110 SMART
Lig_chan-Glu_bd 448 510 8.18e-25 SMART
low complexity region 838 853 N/A INTRINSIC
low complexity region 943 958 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity.[provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygotes for a targeted null mutation display a significant high-frequency hearing loss, associated with reductions of both cochlear outer hair cell function and endolymphatic potential, as well as increased vulnerability to acoustic injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amigo2 T C 15: 97,143,166 (GRCm39) T419A probably damaging Het
Baiap2l1 A C 5: 144,217,691 (GRCm39) I298M possibly damaging Het
BC005624 G T 2: 30,863,748 (GRCm39) A245D probably benign Het
Cdh23 T A 10: 60,150,390 (GRCm39) I2527F probably damaging Het
Celsr1 T C 15: 85,915,615 (GRCm39) H786R possibly damaging Het
Cerkl A G 2: 79,168,922 (GRCm39) V427A possibly damaging Het
Cfap43 G T 19: 47,885,765 (GRCm39) C283* probably null Het
Chfr G A 5: 110,302,803 (GRCm39) A455T probably benign Het
Cldn13 T A 5: 134,943,850 (GRCm39) I112F possibly damaging Het
Cyb5rl T A 4: 106,925,875 (GRCm39) V19E probably benign Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Dlgap2 T A 8: 14,828,295 (GRCm39) C568S probably benign Het
Ecm2 T C 13: 49,671,859 (GRCm39) L120P probably damaging Het
Gpr156 T C 16: 37,812,416 (GRCm39) S251P probably damaging Het
Gpr182 T C 10: 127,585,790 (GRCm39) N387S probably benign Het
Igkv8-34 T C 6: 70,021,337 (GRCm39) S42G probably benign Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Lrrc19 T A 4: 94,527,587 (GRCm39) D208V probably benign Het
Lrrc9 C T 12: 72,528,317 (GRCm39) T872I probably benign Het
Macf1 T C 4: 123,279,245 (GRCm39) probably null Het
Mrpl13 A G 15: 55,420,679 (GRCm39) M1T probably null Het
Ncapg C T 5: 45,831,805 (GRCm39) T217I probably damaging Het
Nim1k G A 13: 120,174,022 (GRCm39) P291S probably damaging Het
Or8c11 G A 9: 38,289,912 (GRCm39) G239D probably damaging Het
Or8k31-ps1 A T 2: 86,356,415 (GRCm39) Y35* probably null Het
Padi6 T C 4: 140,464,687 (GRCm39) M181V probably damaging Het
Pax7 T A 4: 139,557,514 (GRCm39) I86F probably damaging Het
Pbk T A 14: 66,054,680 (GRCm39) Y271N probably benign Het
Rabgap1 C T 2: 37,385,710 (GRCm39) P492L probably benign Het
Rhno1 G T 6: 128,334,728 (GRCm39) D198E probably damaging Het
Scn2a A C 2: 65,514,191 (GRCm39) I292L probably benign Het
Slc40a1 T C 1: 45,950,439 (GRCm39) S338G probably damaging Het
Slc45a3 A G 1: 131,905,928 (GRCm39) Y317C probably damaging Het
Stard9 T A 2: 120,532,270 (GRCm39) S2842R probably benign Het
Tle2 C T 10: 81,413,518 (GRCm39) T119I probably damaging Het
Ttn C T 2: 76,553,938 (GRCm39) V30922I possibly damaging Het
Usp33 C T 3: 152,080,297 (GRCm39) P476L probably damaging Het
Wdr38 T C 2: 38,889,361 (GRCm39) Y51H probably damaging Het
Other mutations in Grid1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00705:Grid1 APN 14 35,167,844 (GRCm39) missense possibly damaging 0.70
IGL01016:Grid1 APN 14 34,544,596 (GRCm39) nonsense probably null
IGL01643:Grid1 APN 14 35,045,392 (GRCm39) critical splice donor site probably null
IGL01697:Grid1 APN 14 35,031,214 (GRCm39) missense probably benign 0.21
IGL01879:Grid1 APN 14 35,172,327 (GRCm39) missense possibly damaging 0.93
IGL01975:Grid1 APN 14 35,045,383 (GRCm39) missense probably benign
IGL02515:Grid1 APN 14 35,174,302 (GRCm39) missense probably damaging 0.99
IGL02935:Grid1 APN 14 34,544,515 (GRCm39) missense possibly damaging 0.86
IGL03279:Grid1 APN 14 34,667,722 (GRCm39) missense probably damaging 0.98
IGL03286:Grid1 APN 14 35,242,642 (GRCm39) splice site probably benign
IGL03296:Grid1 APN 14 35,302,524 (GRCm39) missense possibly damaging 0.52
IGL03305:Grid1 APN 14 34,973,664 (GRCm39) missense probably damaging 1.00
R0533:Grid1 UTSW 14 35,031,342 (GRCm39) missense possibly damaging 0.84
R0746:Grid1 UTSW 14 34,544,647 (GRCm39) missense possibly damaging 0.92
R0811:Grid1 UTSW 14 34,544,576 (GRCm39) missense probably benign
R0812:Grid1 UTSW 14 34,544,576 (GRCm39) missense probably benign
R1144:Grid1 UTSW 14 35,284,633 (GRCm39) splice site probably benign
R1217:Grid1 UTSW 14 34,542,186 (GRCm39) start codon destroyed probably null 0.53
R1485:Grid1 UTSW 14 34,544,540 (GRCm39) missense probably damaging 1.00
R1529:Grid1 UTSW 14 35,031,250 (GRCm39) missense probably benign 0.36
R1606:Grid1 UTSW 14 35,167,922 (GRCm39) missense probably damaging 0.96
R1691:Grid1 UTSW 14 35,174,286 (GRCm39) missense probably damaging 1.00
R1759:Grid1 UTSW 14 35,167,988 (GRCm39) missense possibly damaging 0.92
R2374:Grid1 UTSW 14 35,043,764 (GRCm39) splice site probably benign
R2415:Grid1 UTSW 14 35,172,326 (GRCm39) missense possibly damaging 0.69
R2866:Grid1 UTSW 14 35,284,516 (GRCm39) missense probably damaging 1.00
R3915:Grid1 UTSW 14 35,242,684 (GRCm39) missense probably damaging 1.00
R4044:Grid1 UTSW 14 35,172,358 (GRCm39) splice site probably benign
R4364:Grid1 UTSW 14 34,667,989 (GRCm39) missense probably benign 0.20
R4691:Grid1 UTSW 14 35,291,514 (GRCm39) missense probably benign
R4694:Grid1 UTSW 14 34,748,737 (GRCm39) missense probably damaging 1.00
R4749:Grid1 UTSW 14 35,302,644 (GRCm39) missense possibly damaging 0.50
R4794:Grid1 UTSW 14 34,544,579 (GRCm39) missense probably damaging 0.99
R4854:Grid1 UTSW 14 35,043,598 (GRCm39) missense probably benign
R5555:Grid1 UTSW 14 35,242,662 (GRCm39) missense possibly damaging 0.92
R6005:Grid1 UTSW 14 35,045,369 (GRCm39) missense probably damaging 1.00
R6176:Grid1 UTSW 14 35,284,504 (GRCm39) missense probably benign 0.00
R6569:Grid1 UTSW 14 35,045,296 (GRCm39) missense possibly damaging 0.72
R6911:Grid1 UTSW 14 34,542,185 (GRCm39) start codon destroyed probably benign 0.08
R7504:Grid1 UTSW 14 35,284,470 (GRCm39) missense probably damaging 1.00
R7744:Grid1 UTSW 14 35,172,036 (GRCm39) missense probably damaging 1.00
R7795:Grid1 UTSW 14 35,043,642 (GRCm39) missense probably damaging 1.00
R7883:Grid1 UTSW 14 35,172,259 (GRCm39) splice site probably null
R7913:Grid1 UTSW 14 35,291,654 (GRCm39) missense probably damaging 0.99
R8032:Grid1 UTSW 14 35,045,316 (GRCm39) missense probably benign 0.00
R8916:Grid1 UTSW 14 35,043,664 (GRCm39) missense probably damaging 1.00
R8928:Grid1 UTSW 14 35,302,723 (GRCm39) missense probably benign 0.25
R8934:Grid1 UTSW 14 35,043,664 (GRCm39) missense probably damaging 1.00
R8935:Grid1 UTSW 14 35,043,664 (GRCm39) missense probably damaging 1.00
R8939:Grid1 UTSW 14 35,043,664 (GRCm39) missense probably damaging 1.00
R8986:Grid1 UTSW 14 35,043,664 (GRCm39) missense probably damaging 1.00
R8993:Grid1 UTSW 14 34,748,899 (GRCm39) missense probably benign 0.00
R9238:Grid1 UTSW 14 35,043,664 (GRCm39) missense probably damaging 1.00
R9310:Grid1 UTSW 14 34,748,762 (GRCm39) missense probably damaging 1.00
R9332:Grid1 UTSW 14 35,045,360 (GRCm39) missense probably benign 0.06
R9335:Grid1 UTSW 14 35,043,664 (GRCm39) missense probably damaging 1.00
R9336:Grid1 UTSW 14 35,043,664 (GRCm39) missense probably damaging 1.00
R9478:Grid1 UTSW 14 35,043,664 (GRCm39) missense probably damaging 1.00
R9479:Grid1 UTSW 14 35,043,664 (GRCm39) missense probably damaging 1.00
R9496:Grid1 UTSW 14 35,291,571 (GRCm39) missense probably damaging 1.00
R9583:Grid1 UTSW 14 35,302,492 (GRCm39) missense possibly damaging 0.90
R9601:Grid1 UTSW 14 35,167,814 (GRCm39) missense probably damaging 0.99
R9734:Grid1 UTSW 14 35,302,742 (GRCm39) missense probably benign
U24488:Grid1 UTSW 14 35,302,534 (GRCm39) missense probably benign 0.00
Z1088:Grid1 UTSW 14 35,174,251 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCAATGGCTATGGCTCACC -3'
(R):5'- TGCTGCTGTGTCCAGACAAG -3'

Sequencing Primer
(F):5'- CACCTGTGTTGTATCTTGCAGGATC -3'
(R):5'- TGTGTCCAGACAAGGTGACTC -3'
Posted On 2020-09-02