Incidental Mutation 'R7027:Grm1'
ID 546055
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 045128-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.483) question?
Stock # R7027 (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 G at 10595339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 763 (L763P)
Ref Sequence ENSEMBL: ENSMUSP00000101190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044306] [ENSMUST00000105560] [ENSMUST00000105561]
AlphaFold P97772
Predicted Effect probably damaging
Transcript: ENSMUST00000044306
AA Change: L763P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037255
Gene: ENSMUSG00000019828
AA Change: L763P

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 damaging
Transcript: ENSMUST00000105560
AA Change: L763P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101189
Gene: ENSMUSG00000019828
AA Change: L763P

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 damaging
Transcript: ENSMUST00000105561
AA Change: L763P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101190
Gene: ENSMUSG00000019828
AA Change: L763P

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
Meta Mutation Damage Score 0.9427 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (85/87)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A T 2: 127,852,003 (GRCm39) M102L probably benign Het
Adcy10 A G 1: 165,345,815 (GRCm39) E288G probably damaging Het
Agap1 A G 1: 89,816,444 (GRCm39) H748R probably benign Het
Ahsg T C 16: 22,711,007 (GRCm39) L48P probably damaging Het
Ankrd27 A G 7: 35,311,951 (GRCm39) T394A probably benign Het
Apc T G 18: 34,445,129 (GRCm39) V657G probably damaging Het
Arl2 T C 19: 6,191,119 (GRCm39) T5A probably benign Het
B020011L13Rik A G 1: 117,729,180 (GRCm39) Y229C probably benign Het
B3gnt5 T A 16: 19,588,740 (GRCm39) S320T probably damaging Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
BC107364 T G 3: 96,348,057 (GRCm39) R77S unknown Het
Brox G A 1: 183,065,750 (GRCm39) P206L possibly damaging Het
Ccrl2 T C 9: 110,884,953 (GRCm39) K182E probably benign Het
Cd19 A G 7: 126,009,671 (GRCm39) V465A possibly damaging Het
Chrdl2 A T 7: 99,671,240 (GRCm39) Q126H probably damaging Het
Cnbd1 G A 4: 18,862,063 (GRCm39) P376S probably benign Het
Cobll1 A G 2: 64,919,847 (GRCm39) S1194P probably benign Het
Col6a4 T C 9: 105,944,213 (GRCm39) Y1087C probably damaging Het
Col9a2 G A 4: 120,901,216 (GRCm39) probably null Het
Cyp4v3 A G 8: 45,763,289 (GRCm39) S341P possibly damaging Het
Dnah7a T A 1: 53,670,665 (GRCm39) Y529F probably benign Het
Eif3b C T 5: 140,411,043 (GRCm39) R165W probably damaging Het
Erlec1 C A 11: 30,900,790 (GRCm39) C126F probably damaging Het
Fads2b A G 2: 85,315,871 (GRCm39) Y440H probably damaging Het
Fat2 T C 11: 55,160,259 (GRCm39) T3285A probably benign Het
Fat2 G A 11: 55,172,677 (GRCm39) R2679* probably null Het
Fbxo31 T C 8: 122,305,224 (GRCm39) T91A probably damaging Het
Fkbp5 A G 17: 28,631,037 (GRCm39) Y243H probably damaging Het
Flcn C T 11: 59,686,632 (GRCm39) V374M probably damaging Het
Fndc5 A G 4: 129,033,316 (GRCm39) M128V probably benign Het
Gal3st1 A G 11: 3,949,002 (GRCm39) D403G probably damaging Het
Garem1 T C 18: 21,263,051 (GRCm39) N588D probably benign Het
Gas1 T C 13: 60,324,047 (GRCm39) T196A probably damaging Het
Gcn1 T C 5: 115,754,605 (GRCm39) probably null Het
Gprc5d T G 6: 135,093,646 (GRCm39) Q87P probably damaging Het
Hivep2 G T 10: 14,025,321 (GRCm39) K2378N probably damaging Het
Hivep2 G T 10: 14,025,322 (GRCm39) D2379Y probably damaging Het
Itgad A G 7: 127,782,161 (GRCm39) Y199C probably damaging Het
Itm2c A G 1: 85,834,206 (GRCm39) I174V probably benign Het
Khdrbs2 A G 1: 32,453,997 (GRCm39) S128G probably benign Het
Map3k9 T C 12: 81,777,398 (GRCm39) T528A probably benign Het
Mmp11 G A 10: 75,768,230 (GRCm39) probably benign Het
Mycbpap T A 11: 94,405,440 (GRCm39) I30F probably damaging Het
Nfya T C 17: 48,696,340 (GRCm39) T335A probably benign Het
Npat T A 9: 53,481,216 (GRCm39) S1008T possibly damaging Het
Or10al5 G A 17: 38,063,300 (GRCm39) C185Y probably damaging Het
Or12e10 A G 2: 87,641,060 (GRCm39) T299A possibly damaging Het
Or5p69 A T 7: 107,967,557 (GRCm39) M287L probably damaging Het
Or6c219 C T 10: 129,781,041 (GRCm39) A297T possibly damaging Het
Osbpl10 T C 9: 115,052,766 (GRCm39) V613A probably damaging Het
Pcdhga8 T C 18: 37,860,164 (GRCm39) W407R probably benign Het
Pcdhgb4 A G 18: 37,854,415 (GRCm39) D270G probably damaging Het
Pde2a A C 7: 101,160,804 (GRCm39) E918D probably damaging Het
Plekhg5 A G 4: 152,198,431 (GRCm39) D873G probably benign Het
Pno1 A T 11: 17,158,880 (GRCm39) S173T possibly damaging Het
Ppfia3 A G 7: 45,004,160 (GRCm39) I494T possibly damaging Het
Prkrip1 C A 5: 136,210,267 (GRCm39) probably benign Het
Psma5 A G 3: 108,172,484 (GRCm39) I67V probably benign Het
Reep6 G A 10: 80,169,799 (GRCm39) probably null Het
Rtl1 CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC CTCTTCTTCTTCACCATCTTCCTCCTCCTCCCCTTCTTCTTCTTCACCATCTTCCTCCTCCTC 12: 109,557,848 (GRCm39) probably benign Het
Scyl2 C G 10: 89,481,323 (GRCm39) probably null Het
Sdk1 T A 5: 142,082,481 (GRCm39) probably null Het
Senp5 C A 16: 31,808,113 (GRCm39) K380N probably benign Het
Slc22a14 A T 9: 119,060,281 (GRCm39) probably null Het
Slc26a5 T A 5: 22,021,972 (GRCm39) T485S possibly damaging Het
Slc44a5 T C 3: 153,959,356 (GRCm39) I349T probably benign Het
Smarca5 T C 8: 81,463,355 (GRCm39) E71G probably benign Het
Smok2a A T 17: 13,444,666 (GRCm39) H81L probably damaging Het
Snrnp200 A G 2: 127,059,192 (GRCm39) D388G probably benign Het
Tank T C 2: 61,483,766 (GRCm39) V404A probably benign Het
Tek A G 4: 94,753,747 (GRCm39) D1063G probably damaging Het
Tfap2a C T 13: 40,887,150 (GRCm39) C16Y probably benign Het
Tmc1 A G 19: 20,918,267 (GRCm39) probably null Het
Tnc A G 4: 63,902,826 (GRCm39) F1484L probably benign Het
Tnfsf13 T A 11: 69,575,958 (GRCm39) probably null Het
Tnrc6c T A 11: 117,624,444 (GRCm39) S919T probably damaging Het
Trim17 C A 11: 58,859,442 (GRCm39) Q219K probably benign Het
Trim5 T A 7: 103,914,875 (GRCm39) H389L probably benign Het
Trio T A 15: 27,805,740 (GRCm39) M583L possibly damaging Het
Ttll10 A T 4: 156,120,258 (GRCm39) H389Q possibly damaging Het
Usp24 T C 4: 106,219,441 (GRCm39) S546P probably benign Het
Vmn1r19 T A 6: 57,381,475 (GRCm39) Y9* probably null Het
Vmn2r50 T A 7: 9,781,539 (GRCm39) D402V probably damaging Het
Vmn2r93 C A 17: 18,533,548 (GRCm39) A484E probably benign Het
Vps13a T C 19: 16,642,028 (GRCm39) T2200A probably benign Het
Wdr36 T A 18: 32,974,958 (GRCm39) H103Q probably benign Het
Zfp534 G A 4: 147,759,667 (GRCm39) T334I possibly damaging Het
Zfp804b C T 5: 6,820,372 (GRCm39) S897N 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
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
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'- TGTACATCTTGGGAGTGAACATG -3'
(R):5'- CTTGGGCCCAAGTGATCATAG -3'

Sequencing Primer
(F):5'- CTTGGGAGTGAACATGCAGCC -3'
(R):5'- AGCCTCCATTCTGATTAGTGTACAG -3'
Posted On 2019-05-13