Incidental Mutation 'R8712:Grm1'
ID 669653
Institutional Source Beutler Lab
Gene Symbol Grm1
Ensembl Gene ENSMUSG00000019828
Gene Name glutamate receptor, metabotropic 1
Synonyms 4930455H15Rik, Grm1, mGluR1, rcw, nmf373, Gprc1a
MMRRC Submission 068566-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.484) question?
Stock # R8712 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 10561803-10958100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10565296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1004 (L1004Q)
Ref Sequence ENSEMBL: ENSMUSP00000037255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044306] [ENSMUST00000105560] [ENSMUST00000105561]
AlphaFold P97772
Predicted Effect probably benign
Transcript: ENSMUST00000044306
AA Change: L1004Q

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000037255
Gene: ENSMUSG00000019828
AA Change: L1004Q

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 77 485 1.1e-94 PFAM
Pfam:Peripla_BP_6 151 340 1.4e-10 PFAM
Pfam:NCD3G 521 571 5.5e-16 PFAM
Pfam:7tm_3 604 837 2.4e-55 PFAM
low complexity region 969 975 N/A INTRINSIC
low complexity region 983 993 N/A INTRINSIC
low complexity region 1013 1033 N/A INTRINSIC
low complexity region 1071 1088 N/A INTRINSIC
low complexity region 1093 1109 N/A INTRINSIC
low complexity region 1126 1136 N/A INTRINSIC
GluR_Homer-bdg 1149 1199 6.85e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105560
SMART Domains Protein: ENSMUSP00000101189
Gene: ENSMUSG00000019828

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 77 485 2e-92 PFAM
Pfam:Peripla_BP_6 152 347 2.7e-12 PFAM
Pfam:NCD3G 520 571 2.7e-19 PFAM
Pfam:7tm_3 602 838 3.2e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105561
SMART Domains Protein: ENSMUSP00000101190
Gene: ENSMUSG00000019828

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 77 485 2e-92 PFAM
Pfam:Peripla_BP_6 152 347 2.7e-12 PFAM
Pfam:NCD3G 520 571 2.7e-19 PFAM
Pfam:7tm_3 602 838 3.2e-73 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for null mutations show impairements in motor coordination, spatial learning, hippocampal mossy fiber long-term potentiation, and cerebellar long-term depression. Homozygotes for a spontaneous mutation are small and exhibit ataxia, kyphoscoliosis, albuminuria and glomerular damage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 A T 16: 85,594,896 (GRCm39) N617K probably benign Het
Adnp2 A T 18: 80,174,185 (GRCm39) C75S probably damaging Het
Agmo T C 12: 37,407,673 (GRCm39) F186L possibly damaging Het
Ahnak2 T C 12: 112,749,872 (GRCm39) Y122C Het
Ahnak2 T C 12: 112,750,709 (GRCm39) E71G Het
Aldh5a1 A G 13: 25,102,524 (GRCm39) V313A probably damaging Het
Ankib1 C A 5: 3,822,643 (GRCm39) C21F probably benign Het
Aqr A G 2: 113,949,358 (GRCm39) Y947H probably damaging Het
Atp1a2 T A 1: 172,103,547 (GRCm39) Y991F probably benign Het
Atp8b3 G A 10: 80,365,923 (GRCm39) T309M possibly damaging Het
Blzf1 T A 1: 164,125,859 (GRCm39) D259V possibly damaging Het
Cacng5 T C 11: 107,772,510 (GRCm39) I113V probably benign Het
Catsper3 T C 13: 55,953,657 (GRCm39) M269T probably benign Het
Ccdc142 A C 6: 83,079,233 (GRCm39) Y190S probably damaging Het
Ccdc159 C A 9: 21,845,051 (GRCm39) Q306K probably benign Het
Ccdc180 A T 4: 45,920,842 (GRCm39) probably null Het
Cebpz A G 17: 79,229,081 (GRCm39) F955S possibly damaging Het
Cftr C T 6: 18,274,696 (GRCm39) T938I probably damaging Het
Col28a1 T C 6: 8,013,133 (GRCm39) K973R probably benign Het
Cyp2c29 T C 19: 39,310,138 (GRCm39) probably benign Het
Ddx1 A G 12: 13,293,859 (GRCm39) probably benign Het
Duox2 A C 2: 122,119,826 (GRCm39) Y867* probably null Het
Ereg T C 5: 91,237,013 (GRCm39) Y111H possibly damaging Het
Esrrb T A 12: 86,565,724 (GRCm39) L417Q probably damaging Het
Fbxw7 G A 3: 84,859,684 (GRCm39) R2H unknown Het
Galnt6 C T 15: 100,592,501 (GRCm39) V569I probably benign Het
Gm14226 G A 2: 154,866,094 (GRCm39) C17Y unknown Het
Gpr150 T G 13: 76,204,642 (GRCm39) D101A probably damaging Het
Gtf2a1l T A 17: 89,022,351 (GRCm39) D447E probably damaging Het
Gtf2ird1 C T 5: 134,444,064 (GRCm39) V64M probably damaging Het
Ifi206 A T 1: 173,308,074 (GRCm39) W641R Het
Ifi214 T A 1: 173,355,486 (GRCm39) E107D possibly damaging Het
Kif19a T C 11: 114,675,599 (GRCm39) V357A probably damaging Het
Klhdc7b T A 15: 89,271,025 (GRCm39) S636T probably benign Het
Klhl25 C T 7: 75,515,420 (GRCm39) R109C probably damaging Het
Ltbp2 T C 12: 84,853,124 (GRCm39) E835G probably benign Het
Marchf1 A G 8: 66,921,000 (GRCm39) K226E probably damaging Het
Mcpt1 T C 14: 56,256,170 (GRCm39) probably benign Het
Myrf C A 19: 10,192,434 (GRCm39) R639L probably benign Het
Naip5 T C 13: 100,359,604 (GRCm39) H544R possibly damaging Het
Nccrp1 T C 7: 28,245,769 (GRCm39) I132V probably benign Het
Nprl3 C T 11: 32,187,334 (GRCm39) V333I possibly damaging Het
Or13a25 C T 7: 140,248,052 (GRCm39) S277L possibly damaging Het
Or14n1-ps1 T C 7: 86,092,923 (GRCm39) S245P probably damaging Het
Or2o1 T C 11: 49,051,297 (GRCm39) M152T probably benign Het
Or2y1 T A 11: 49,385,671 (GRCm39) S104T probably benign Het
Or4b1d A T 2: 89,969,114 (GRCm39) I123N probably damaging Het
Or4f62 A T 2: 111,986,934 (GRCm39) I213F probably damaging Het
Or52h1 T C 7: 103,829,025 (GRCm39) N197D probably damaging Het
Or56a41 C A 7: 104,741,808 (GRCm39) V73F possibly damaging Het
Or8c15 T C 9: 38,121,099 (GRCm39) V248A probably benign Het
Or8d6 T C 9: 39,853,891 (GRCm39) S112P probably damaging Het
Otx2 A G 14: 48,896,521 (GRCm39) M179T probably damaging Het
Pmfbp1 A G 8: 110,265,309 (GRCm39) probably benign Het
Ppfia3 T A 7: 45,011,129 (GRCm39) T34S probably benign Het
Prkcsh T C 9: 21,924,375 (GRCm39) Y502H probably damaging Het
Psd T C 19: 46,301,775 (GRCm39) E937G probably damaging Het
Rbbp6 T A 7: 122,600,976 (GRCm39) I1661N unknown Het
Rhobtb1 T A 10: 69,106,587 (GRCm39) M446K probably damaging Het
Sall3 T C 18: 81,017,236 (GRCm39) I231V probably benign Het
Slc12a9 C T 5: 137,325,916 (GRCm39) V270I probably damaging Het
Slc6a15 A G 10: 103,225,112 (GRCm39) K67E probably damaging Het
Slc9c1 A G 16: 45,380,646 (GRCm39) D524G probably benign Het
Smpdl3a A G 10: 57,687,526 (GRCm39) D418G probably benign Het
Sox6 T C 7: 115,196,743 (GRCm39) T296A probably benign Het
Ssu2 T C 6: 112,361,399 (GRCm39) E19G probably damaging Het
Tctn3 T C 19: 40,600,170 (GRCm39) N90S probably damaging Het
Tex24 A G 8: 27,834,652 (GRCm39) Q60R possibly damaging Het
Tlcd1 T A 11: 78,070,470 (GRCm39) *128R probably null Het
Tti1 A C 2: 157,834,930 (GRCm39) L1010R probably damaging Het
Ttn A G 2: 76,567,682 (GRCm39) L27737P probably damaging Het
Ubqln5 T A 7: 103,778,322 (GRCm39) K167N probably benign Het
Unkl A G 17: 25,450,689 (GRCm39) I492V possibly damaging Het
Vmn1r8 G A 6: 57,013,665 (GRCm39) V239I probably benign Het
Vmn2r101 T A 17: 19,811,397 (GRCm39) L494I probably benign Het
Vmn2r54 G T 7: 12,369,877 (GRCm39) T62K probably benign Het
Other mutations in Grm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01371:Grm1 APN 10 10,595,783 (GRCm39) missense probably benign 0.01
IGL02078:Grm1 APN 10 10,565,354 (GRCm39) missense probably benign 0.02
IGL02156:Grm1 APN 10 10,595,720 (GRCm39) missense probably damaging 0.99
IGL02476:Grm1 APN 10 10,565,197 (GRCm39) missense probably benign 0.29
IGL02498:Grm1 APN 10 10,595,723 (GRCm39) missense probably damaging 1.00
IGL02621:Grm1 APN 10 10,564,755 (GRCm39) nonsense probably null
IGL03192:Grm1 APN 10 10,955,660 (GRCm39) missense possibly damaging 0.66
IGL03342:Grm1 APN 10 10,955,715 (GRCm39) missense probably benign 0.08
dewey UTSW 10 10,595,339 (GRCm39) missense probably damaging 1.00
Dingus UTSW 10 10,595,711 (GRCm39) missense probably benign 0.06
donald UTSW 10 10,617,252 (GRCm39) nonsense probably null
jim UTSW 10 10,595,549 (GRCm39) missense probably damaging 1.00
lightness UTSW 10 10,955,702 (GRCm39) missense probably damaging 1.00
IGL02796:Grm1 UTSW 10 10,565,411 (GRCm39) missense probably benign
R0294:Grm1 UTSW 10 10,956,143 (GRCm39) missense probably damaging 1.00
R0525:Grm1 UTSW 10 10,594,953 (GRCm39) splice site probably benign
R0554:Grm1 UTSW 10 10,595,667 (GRCm39) missense probably benign 0.01
R1184:Grm1 UTSW 10 10,595,778 (GRCm39) missense probably benign 0.40
R1319:Grm1 UTSW 10 10,565,142 (GRCm39) missense probably benign 0.05
R1403:Grm1 UTSW 10 10,955,879 (GRCm39) missense probably benign 0.00
R1403:Grm1 UTSW 10 10,955,879 (GRCm39) missense probably benign 0.00
R1467:Grm1 UTSW 10 10,595,702 (GRCm39) missense probably damaging 1.00
R1467:Grm1 UTSW 10 10,595,702 (GRCm39) missense probably damaging 1.00
R1494:Grm1 UTSW 10 10,565,450 (GRCm39) missense probably benign 0.04
R1589:Grm1 UTSW 10 10,595,711 (GRCm39) missense probably benign 0.06
R1615:Grm1 UTSW 10 10,617,252 (GRCm39) nonsense probably null
R1720:Grm1 UTSW 10 10,622,538 (GRCm39) splice site probably null
R1738:Grm1 UTSW 10 10,812,163 (GRCm39) missense probably damaging 1.00
R1763:Grm1 UTSW 10 10,955,610 (GRCm39) missense possibly damaging 0.47
R1774:Grm1 UTSW 10 10,955,610 (GRCm39) missense possibly damaging 0.47
R2041:Grm1 UTSW 10 10,622,347 (GRCm39) missense probably damaging 0.98
R2092:Grm1 UTSW 10 10,564,969 (GRCm39) missense probably benign 0.00
R2198:Grm1 UTSW 10 10,658,520 (GRCm39) missense probably damaging 1.00
R2297:Grm1 UTSW 10 10,956,158 (GRCm39) missense probably benign 0.03
R2333:Grm1 UTSW 10 10,595,363 (GRCm39) missense probably benign 0.31
R2333:Grm1 UTSW 10 10,595,090 (GRCm39) missense probably damaging 0.98
R2914:Grm1 UTSW 10 10,955,601 (GRCm39) missense probably benign 0.07
R3105:Grm1 UTSW 10 10,955,601 (GRCm39) missense probably benign 0.07
R3106:Grm1 UTSW 10 10,955,601 (GRCm39) missense probably benign 0.07
R3705:Grm1 UTSW 10 10,658,473 (GRCm39) missense possibly damaging 0.95
R3931:Grm1 UTSW 10 10,595,622 (GRCm39) missense probably benign 0.44
R4810:Grm1 UTSW 10 10,658,438 (GRCm39) missense probably damaging 1.00
R4892:Grm1 UTSW 10 10,595,331 (GRCm39) missense possibly damaging 0.81
R4938:Grm1 UTSW 10 10,812,257 (GRCm39) missense probably damaging 1.00
R4947:Grm1 UTSW 10 10,658,377 (GRCm39) missense probably damaging 1.00
R4966:Grm1 UTSW 10 10,595,409 (GRCm39) nonsense probably null
R5152:Grm1 UTSW 10 10,955,619 (GRCm39) missense probably benign 0.13
R5283:Grm1 UTSW 10 10,608,936 (GRCm39) missense possibly damaging 0.70
R5317:Grm1 UTSW 10 10,622,443 (GRCm39) missense possibly damaging 0.77
R5374:Grm1 UTSW 10 10,956,186 (GRCm39) missense probably benign 0.14
R5428:Grm1 UTSW 10 10,595,307 (GRCm39) missense probably damaging 1.00
R5604:Grm1 UTSW 10 10,622,479 (GRCm39) missense probably damaging 1.00
R5894:Grm1 UTSW 10 10,955,999 (GRCm39) missense probably damaging 1.00
R5896:Grm1 UTSW 10 10,956,294 (GRCm39) utr 5 prime probably benign
R5899:Grm1 UTSW 10 10,565,092 (GRCm39) missense probably benign
R6032:Grm1 UTSW 10 10,595,549 (GRCm39) missense probably damaging 1.00
R6032:Grm1 UTSW 10 10,595,549 (GRCm39) missense probably damaging 1.00
R6139:Grm1 UTSW 10 10,622,075 (GRCm39) intron probably benign
R6144:Grm1 UTSW 10 10,955,640 (GRCm39) missense probably benign 0.08
R6208:Grm1 UTSW 10 10,595,690 (GRCm39) missense probably damaging 1.00
R6976:Grm1 UTSW 10 10,564,924 (GRCm39) missense probably benign 0.00
R7027:Grm1 UTSW 10 10,595,339 (GRCm39) missense probably damaging 1.00
R7079:Grm1 UTSW 10 10,955,702 (GRCm39) missense probably damaging 1.00
R7286:Grm1 UTSW 10 10,565,440 (GRCm39) missense probably benign 0.19
R7352:Grm1 UTSW 10 10,595,237 (GRCm39) missense probably damaging 1.00
R7484:Grm1 UTSW 10 10,622,403 (GRCm39) missense probably benign 0.06
R7838:Grm1 UTSW 10 10,956,096 (GRCm39) missense probably benign 0.02
R8108:Grm1 UTSW 10 10,595,876 (GRCm39) missense probably benign 0.01
R8379:Grm1 UTSW 10 10,564,879 (GRCm39) missense possibly damaging 0.86
R8498:Grm1 UTSW 10 10,955,605 (GRCm39) nonsense probably null
R8856:Grm1 UTSW 10 10,595,092 (GRCm39) missense probably damaging 1.00
R8904:Grm1 UTSW 10 10,595,281 (GRCm39) missense probably damaging 1.00
R9043:Grm1 UTSW 10 10,565,056 (GRCm39) nonsense probably null
R9477:Grm1 UTSW 10 10,595,405 (GRCm39) missense probably benign 0.15
R9674:Grm1 UTSW 10 10,609,028 (GRCm39) missense possibly damaging 0.91
R9685:Grm1 UTSW 10 10,564,775 (GRCm39) missense possibly damaging 0.91
R9777:Grm1 UTSW 10 10,573,826 (GRCm39) missense possibly damaging 0.92
X0002:Grm1 UTSW 10 10,812,257 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATACACGAACTCCTGCAGG -3'
(R):5'- TTTTCAGACGCCAGCACCAAG -3'

Sequencing Primer
(F):5'- TGCAGGAGCTTGAACCTCTC -3'
(R):5'- GACCCTTTACAACGTGGAGG -3'
Posted On 2021-04-30