Incidental Mutation 'R6176:Grid1'
ID 487782
Institutional Source Beutler Lab
Gene Symbol Grid1
Ensembl Gene ENSMUSG00000041078
Gene Name glutamate receptor, ionotropic, delta 1
Synonyms GluRdelta1
MMRRC Submission 044318-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6176 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 34542065-35305336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 35284504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 749 (A749E)
Ref Sequence ENSEMBL: ENSMUSP00000044009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043349]
AlphaFold Q61627
Predicted Effect probably benign
Transcript: ENSMUST00000043349
AA Change: A749E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000044009
Gene: ENSMUSG00000041078
AA Change: A749E

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
Meta Mutation Damage Score 0.1106 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 97% (60/62)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna T C 4: 63,295,969 (GRCm39) Q966R probably benign Het
Amn A G 12: 111,240,590 (GRCm39) D74G possibly damaging Het
Ank2 T A 3: 126,739,120 (GRCm39) T2255S probably benign Het
Ankfy1 G A 11: 72,645,285 (GRCm39) C788Y probably benign Het
Apaf1 A G 10: 90,895,433 (GRCm39) probably null Het
Asl T A 5: 130,047,720 (GRCm39) H82L probably benign Het
Atrn A G 2: 130,788,011 (GRCm39) E271G probably benign Het
B4galnt3 A G 6: 120,201,125 (GRCm39) F184S probably damaging Het
C1s2 T A 6: 124,602,768 (GRCm39) H481L probably damaging Het
Cav2 A G 6: 17,286,918 (GRCm39) D58G possibly damaging Het
Cc2d2a A T 5: 43,866,455 (GRCm39) H755L probably benign Het
Ccdc65 A G 15: 98,606,433 (GRCm39) probably null Het
Celsr3 A T 9: 108,705,554 (GRCm39) Y679F probably damaging Het
Cep135 A T 5: 76,772,490 (GRCm39) Y625F probably benign Het
Cfhr1 A G 1: 139,478,654 (GRCm39) S58P probably damaging Het
Clip4 T A 17: 72,113,628 (GRCm39) C259* probably null Het
Cyp2j12 T A 4: 96,029,074 (GRCm39) Q69L probably damaging Het
Dock3 G A 9: 106,790,147 (GRCm39) T1484I probably benign Het
Ecscr CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT 18: 35,849,813 (GRCm39) probably benign Het
Efcab3 A T 11: 104,683,383 (GRCm39) I1604F probably benign Het
Fam43b T C 4: 138,122,522 (GRCm39) D266G probably damaging Het
Fbxl13 T A 5: 21,705,498 (GRCm39) I618F possibly damaging Het
Gne C T 4: 44,053,019 (GRCm39) probably benign Het
Gnpat T A 8: 125,605,593 (GRCm39) V321E probably damaging Het
Gpatch8 G A 11: 102,378,350 (GRCm39) A200V unknown Het
Grip2 C T 6: 91,756,832 (GRCm39) V540I probably benign Het
Ice2 C T 9: 69,324,354 (GRCm39) T759M probably damaging Het
Jrk G T 15: 74,578,189 (GRCm39) N365K possibly damaging Het
Kank4 A G 4: 98,653,791 (GRCm39) I879T probably damaging Het
Krtap20-1 T A 16: 88,812,288 (GRCm39) Y24* probably null Het
Lao1 T A 4: 118,819,197 (GRCm39) M1K probably null Het
Mlf1 A G 3: 67,291,927 (GRCm39) R31G probably damaging Het
Nt5c3b T C 11: 100,330,974 (GRCm39) probably benign Het
Nusap1 A G 2: 119,460,902 (GRCm39) R132G probably benign Het
Or11g1 A G 14: 50,651,847 (GRCm39) Y282C probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or5w20 G A 2: 87,727,280 (GRCm39) V254I probably benign Het
Or8d2b A C 9: 38,788,673 (GRCm39) D67A probably damaging Het
Paqr9 G T 9: 95,442,828 (GRCm39) V273L possibly damaging Het
Pcdha9 A T 18: 37,131,984 (GRCm39) D351V probably benign Het
Pcdhga1 A G 18: 37,797,282 (GRCm39) D762G probably benign Het
Pde3a T A 6: 141,444,615 (GRCm39) L1141Q possibly damaging Het
Pga5 T A 19: 10,649,149 (GRCm39) probably null Het
Phldb3 C A 7: 24,326,127 (GRCm39) R570S probably damaging Het
Slc22a6 A C 19: 8,599,161 (GRCm39) E264A probably damaging Het
Slc49a4 C T 16: 35,525,167 (GRCm39) M426I probably benign Het
Slit1 T C 19: 41,626,034 (GRCm39) K576R probably damaging Het
Sox21 T C 14: 118,473,040 (GRCm39) K3R possibly damaging Het
Stk32c A T 7: 138,700,691 (GRCm39) D297E probably benign Het
Suclg1 T C 6: 73,252,326 (GRCm39) V323A probably damaging Het
Tas1r2 T G 4: 139,396,199 (GRCm39) C513G probably damaging Het
Tbc1d23 A G 16: 56,992,152 (GRCm39) Y603H probably damaging Het
Tbc1d31 T C 15: 57,816,192 (GRCm39) V642A probably damaging Het
Tle2 A T 10: 81,423,168 (GRCm39) D486V probably damaging Het
Tmem232 A G 17: 65,792,867 (GRCm39) I110T probably damaging Het
Tmem39b A G 4: 129,586,894 (GRCm39) Y106H probably damaging Het
Trpm4 T G 7: 44,976,100 (GRCm39) N229T probably damaging Het
Tspo A G 15: 83,458,007 (GRCm39) T120A probably benign Het
Ttc28 G A 5: 111,371,851 (GRCm39) A767T probably damaging Het
Usp53 G A 3: 122,727,652 (GRCm39) Q977* probably null Het
Vmn1r215 T A 13: 23,260,528 (GRCm39) D189E probably damaging Het
Vmn2r12 T C 5: 109,233,866 (GRCm39) Y782C probably benign Het
Vmn2r54 A G 7: 12,349,908 (GRCm39) L558P probably damaging Het
Zfp268 T A 4: 145,350,628 (GRCm39) C688* probably null 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
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
R8333:Grid1 UTSW 14 35,291,595 (GRCm39) missense possibly damaging 0.82
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'- TACAGTGTGAGTAGGACCACATAG -3'
(R):5'- GCACATTGGTCCCTAGCTAG -3'

Sequencing Primer
(F):5'- GAGGAGTCCCCGGAACCTAATTATTG -3'
(R):5'- AATGGCTCTTATGTCATAGCAGGAG -3'
Posted On 2017-10-10