Incidental Mutation 'R9043:Grm1'
ID 687852
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 068870-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.484) question?
Stock # R9043 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 10561803-10958100 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 10565056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 1084 (L1084*)
Ref Sequence ENSEMBL: ENSMUSP00000037255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044306] [ENSMUST00000105560] [ENSMUST00000105561]
AlphaFold P97772
Predicted Effect probably null
Transcript: ENSMUST00000044306
AA Change: L1084*
SMART Domains Protein: ENSMUSP00000037255
Gene: ENSMUSG00000019828
AA Change: L1084*

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: 99.9%
  • 10x: 99.5%
  • 20x: 98.0%
Validation Efficiency 99% (87/88)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik T A 8: 88,309,238 (GRCm39) S134T possibly damaging Het
Aadacl4 T A 4: 144,349,790 (GRCm39) L349Q probably damaging Het
Ankrd29 T C 18: 12,428,970 (GRCm39) N33S probably damaging Het
Arid3b T C 9: 57,699,900 (GRCm39) S536G possibly damaging Het
Art5 A C 7: 101,748,699 (GRCm39) M1R probably null Het
Arvcf T A 16: 18,218,452 (GRCm39) C545S probably damaging Het
Atpsckmt A G 15: 31,617,101 (GRCm39) T189A probably benign Het
Axin2 T A 11: 108,833,794 (GRCm39) N580K probably benign Het
Cdh23 T G 10: 60,151,478 (GRCm39) D2469A probably benign Het
Cep350 T A 1: 155,773,228 (GRCm39) T1781S probably damaging Het
Cfap65 T A 1: 74,943,847 (GRCm39) T1555S possibly damaging Het
Chga G A 12: 102,529,054 (GRCm39) E344K possibly damaging Het
Ckap2l A T 2: 129,126,892 (GRCm39) L429M probably damaging Het
Cpne7 C T 8: 123,856,951 (GRCm39) P402L probably damaging Het
Cyp2g1 A G 7: 26,509,256 (GRCm39) N110S probably benign Het
Cyp3a11 T C 5: 145,805,995 (GRCm39) D124G probably benign Het
Dgkq A T 5: 108,801,061 (GRCm39) V527D probably damaging Het
Dnah3 T C 7: 119,551,272 (GRCm39) I37V probably benign Het
Dnah9 T A 11: 65,845,680 (GRCm39) E3068V Het
Dusp23 T C 1: 172,460,184 (GRCm39) E89G probably null Het
Fam187a A G 11: 102,776,685 (GRCm39) Y163C possibly damaging Het
Gabrg2 T A 11: 41,865,662 (GRCm39) I106F probably damaging Het
Gpc2 A G 5: 138,277,193 (GRCm39) I78T probably benign Het
Gpr149 A C 3: 62,511,360 (GRCm39) L213R probably damaging Het
Gypa A G 8: 81,222,946 (GRCm39) T17A unknown Het
Gys2 A T 6: 142,376,059 (GRCm39) F534L probably damaging Het
Iqce A T 5: 140,651,810 (GRCm39) M721K probably benign Het
Klrc2 T A 6: 129,635,741 (GRCm39) Y129F probably damaging Het
Krt14 T C 11: 100,095,464 (GRCm39) S314G possibly damaging Het
L3mbtl3 T C 10: 26,156,152 (GRCm39) Q685R unknown Het
Lamb3 A T 1: 193,007,919 (GRCm39) K206* probably null Het
Lgr5 A G 10: 115,314,343 (GRCm39) I198T probably damaging Het
Mapk10 A T 5: 103,074,025 (GRCm39) probably benign Het
Mcm6 C T 1: 128,271,231 (GRCm39) D463N probably damaging Het
Med15 A T 16: 17,470,582 (GRCm39) W742R probably benign Het
Meis1 T A 11: 18,831,916 (GRCm39) Q374L possibly damaging Het
Nrxn3 T C 12: 89,227,252 (GRCm39) C296R probably damaging Het
Ntaq1 A G 15: 58,014,004 (GRCm39) Y67C possibly damaging Het
Oaf C T 9: 43,135,308 (GRCm39) A157T probably damaging Het
Oca2 T A 7: 55,927,189 (GRCm39) probably null Het
Or5b110-ps1 A T 19: 13,260,074 (GRCm39) M116K probably damaging Het
Or5b12 T A 19: 12,897,667 (GRCm39) E2V probably benign Het
Or5d36 T A 2: 87,900,983 (GRCm39) T248S possibly damaging Het
Or9k2b A T 10: 130,016,154 (GRCm39) H198Q probably benign Het
Pacs1 A G 19: 5,188,964 (GRCm39) I806T probably benign Het
Pax2 T A 19: 44,804,499 (GRCm39) S257T probably benign Het
Pbxip1 A T 3: 89,350,794 (GRCm39) T72S probably benign Het
Pcdhb14 T C 18: 37,581,851 (GRCm39) I319T probably damaging Het
Pcdhga2 C A 18: 37,802,963 (GRCm39) A269E possibly damaging Het
Pdzph1 A C 17: 59,280,535 (GRCm39) N582K probably benign Het
Plk2 A T 13: 110,533,194 (GRCm39) I186F probably damaging Het
Pzp A T 6: 128,471,742 (GRCm39) C895S probably damaging Het
Rasa2 A T 9: 96,484,770 (GRCm39) V148D probably damaging Het
Rgsl1 A T 1: 153,717,567 (GRCm39) I14N possibly damaging Het
Rhox3c C T X: 36,651,303 (GRCm39) probably benign Het
Rnf213 A G 11: 119,349,739 (GRCm39) R3867G Het
Rpap3 A G 15: 97,584,443 (GRCm39) Y334H possibly damaging Het
Scara3 A C 14: 66,169,070 (GRCm39) N182K probably damaging Het
Sh3bp1 A G 15: 78,791,449 (GRCm39) E412G possibly damaging Het
Sh3tc2 T A 18: 62,122,961 (GRCm39) I574N possibly damaging Het
Slc16a11 T C 11: 70,106,520 (GRCm39) Y253H probably damaging Het
Slc38a4 A T 15: 96,906,805 (GRCm39) V311E possibly damaging Het
Slc4a7 T C 14: 14,775,048 (GRCm38) L826P probably damaging Het
Spag9 T G 11: 93,951,085 (GRCm39) V83G Het
Sspo T G 6: 48,470,214 (GRCm39) V4560G probably benign Het
Stxbp2 T A 8: 3,684,478 (GRCm39) F144I Het
Tafa2 T C 10: 123,540,294 (GRCm39) V50A probably damaging Het
Tdh T C 14: 63,730,278 (GRCm39) I334V probably benign Het
Tesk2 C A 4: 116,660,148 (GRCm39) S451Y probably benign Het
Tjp1 A T 7: 64,962,679 (GRCm39) V1166E probably benign Het
Tmeff2 G A 1: 51,018,779 (GRCm39) V254M unknown Het
Tmem126a A G 7: 90,100,749 (GRCm39) probably null Het
Togaram2 C G 17: 71,993,699 (GRCm39) P2A probably benign Het
Trappc14 G A 5: 138,259,889 (GRCm39) T389I possibly damaging Het
Tssk4 C T 14: 55,889,211 (GRCm39) R246W probably damaging Het
Tubal3 C T 13: 3,982,708 (GRCm39) R163* probably null Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vezt T C 10: 93,820,027 (GRCm39) N446S probably damaging Het
Vim A T 2: 13,579,249 (GRCm39) T3S unknown Het
Vmn2r45 A G 7: 8,474,904 (GRCm39) L708P possibly damaging Het
Yes1 A G 5: 32,810,312 (GRCm39) Y157C probably damaging Het
Zfp358 A G 8: 3,545,810 (GRCm39) T131A probably benign Het
Zfp426 C T 9: 20,386,308 (GRCm39) V58M probably damaging Het
Zfp692 T C 11: 58,198,550 (GRCm39) S47P probably damaging Het
Zfp719 A T 7: 43,239,605 (GRCm39) T398S possibly damaging 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
R8712:Grm1 UTSW 10 10,565,296 (GRCm39) missense probably benign 0.34
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
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'- ACTCAGACACTGGGGAACTG -3'
(R):5'- GATTCTGTCATCCCCAAGGG -3'

Sequencing Primer
(F):5'- AACTGGGCACTGAGCTGC -3'
(R):5'- TGTCATCCCCAAGGGCTTGC -3'
Posted On 2021-11-19