Incidental Mutation 'R7286:Grm1'
ID 566019
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 045394-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.484) question?
Stock # R7286 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 10561803-10958100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10565440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 956 (N956S)
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: N956S

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000037255
Gene: ENSMUSG00000019828
AA Change: N956S

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: 99.6%
  • 20x: 98.6%
Validation Efficiency
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,334,317 (GRCm39) M187L possibly damaging Het
9930012K11Rik T C 14: 70,394,686 (GRCm39) E156G possibly damaging Het
Acad9 C T 3: 36,130,139 (GRCm39) A194V probably damaging Het
Agps T A 2: 75,683,128 (GRCm39) V151E probably benign Het
Ak9 A T 10: 41,283,367 (GRCm39) I1273L Het
Akr1c19 T A 13: 4,296,818 (GRCm39) L288Q probably damaging Het
Carmil1 T G 13: 24,197,377 (GRCm39) D1353A probably damaging Het
Ccz1 T A 5: 143,949,897 (GRCm39) I43F probably damaging Het
Cep70 G A 9: 99,157,638 (GRCm39) C179Y probably damaging Het
Comt A T 16: 18,229,440 (GRCm39) L196H probably damaging Het
Cspg5 A T 9: 110,076,023 (GRCm39) D253V probably damaging Het
Dars2 A G 1: 160,874,378 (GRCm39) V437A possibly damaging Het
Dcaf5 A G 12: 80,395,164 (GRCm39) I335T probably damaging Het
Ddn T C 15: 98,703,906 (GRCm39) K462R possibly damaging Het
Dscaml1 T C 9: 45,654,044 (GRCm39) probably null Het
Eef1ece2 T C 16: 20,451,341 (GRCm39) S325P probably benign Het
Ethe1 A G 7: 24,307,377 (GRCm39) Y197C probably damaging Het
Evc A T 5: 37,479,527 (GRCm39) L269* probably null Het
Fam161a T C 11: 22,970,001 (GRCm39) S60P possibly damaging Het
Fam20b A G 1: 156,509,012 (GRCm39) V400A probably benign Het
Fam53b T A 7: 132,361,390 (GRCm39) S213C possibly damaging Het
Flot2 A G 11: 77,945,612 (GRCm39) I45V probably benign Het
Gemin4 A C 11: 76,103,579 (GRCm39) L394R probably damaging Het
Glis2 T G 16: 4,429,182 (GRCm39) S128R possibly damaging Het
Gm3696 A G 14: 18,435,009 (GRCm39) Y92H probably damaging Het
Gpbp1l1 T C 4: 116,447,442 (GRCm39) V374A probably benign Het
Hbb-bh1 T C 7: 103,492,238 (GRCm39) E27G probably damaging Het
Hmcn1 A T 1: 150,458,088 (GRCm39) C5233S probably damaging Het
Hmgcr C T 13: 96,803,105 (GRCm39) C30Y probably damaging Het
Hoxb6 A G 11: 96,183,651 (GRCm39) probably benign Het
Igf2 T C 7: 142,209,555 (GRCm39) Q35R possibly damaging Het
Ighv1-4 C T 12: 114,450,941 (GRCm39) V56I probably benign Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lmtk2 C T 5: 144,111,178 (GRCm39) Q633* probably null Het
Mesd T C 7: 83,544,957 (GRCm39) Y136H probably damaging Het
Mga T A 2: 119,795,269 (GRCm39) S2984R possibly damaging Het
Mkrn3 T C 7: 62,068,675 (GRCm39) N372S probably benign Het
Mtpap A G 18: 4,387,068 (GRCm39) I373V probably benign Het
Mycbp2 G A 14: 103,358,027 (GRCm39) T4589M probably damaging Het
Myh2 A G 11: 67,079,195 (GRCm39) Q921R probably benign Het
Myom1 A G 17: 71,352,544 (GRCm39) D324G possibly damaging Het
Nat10 T C 2: 103,584,514 (GRCm39) K88E probably benign Het
Ncapd3 A G 9: 26,981,254 (GRCm39) R915G probably damaging Het
Nek4 T C 14: 30,679,249 (GRCm39) Y190H probably damaging Het
Nfasc A C 1: 132,529,790 (GRCm39) Y797D probably damaging Het
Ngp A G 9: 110,249,978 (GRCm39) D92G probably benign Het
Nos2 A C 11: 78,820,680 (GRCm39) H95P probably damaging Het
Nr3c1 ACGTC ACGTCGTC 18: 39,619,513 (GRCm39) probably benign Het
Or10ag59 C T 2: 87,405,863 (GRCm39) T145I probably benign Het
Or5bw2 C A 7: 6,573,715 (GRCm39) H242N probably damaging Het
Or5p73 T C 7: 108,064,642 (GRCm39) I37T possibly damaging Het
Or5t18 A T 2: 86,636,967 (GRCm39) H125Q possibly damaging Het
Otogl T A 10: 107,606,471 (GRCm39) D2154V probably benign Het
Pdss1 T A 2: 22,825,653 (GRCm39) probably null Het
Pex5 A T 6: 124,375,022 (GRCm39) L609* probably null Het
Pglyrp4 C A 3: 90,640,281 (GRCm39) A177D probably damaging Het
Phactr4 A G 4: 132,104,489 (GRCm39) probably null Het
Phf8-ps T C 17: 33,284,501 (GRCm39) D767G probably benign Het
Pik3cd G C 4: 149,744,171 (GRCm39) N193K probably benign Het
Prr36 TACCTCTTC T 8: 4,265,163 (GRCm39) probably benign Het
Prss38 A T 11: 59,266,384 (GRCm39) W25R probably benign Het
Prss8 T A 7: 127,526,056 (GRCm39) Q189L probably damaging Het
Psd T A 19: 46,303,240 (GRCm39) D713V probably damaging Het
Rad51ap2 C T 12: 11,507,692 (GRCm39) T538I probably benign Het
Rarres1 T C 3: 67,422,517 (GRCm39) T78A probably benign Het
Rbl2 G T 8: 91,828,922 (GRCm39) G651* probably null Het
Rev3l A T 10: 39,699,601 (GRCm39) Q1366L probably damaging Het
Rundc1 T C 11: 101,320,413 (GRCm39) S215P probably benign Het
Sanbr A T 11: 23,572,479 (GRCm39) C130S probably benign Het
Scarf2 G A 16: 17,620,837 (GRCm39) W168* probably null Het
Sh2d7 A G 9: 54,448,186 (GRCm39) D69G possibly damaging Het
Slc26a4 A T 12: 31,579,527 (GRCm39) Y578* probably null Het
Slc2a9 A T 5: 38,610,538 (GRCm39) L87Q probably damaging Het
Slc39a10 A T 1: 46,849,230 (GRCm39) H795Q probably damaging Het
Spata13 C T 14: 60,993,871 (GRCm39) R1108W probably damaging Het
Sqle T C 15: 59,187,901 (GRCm39) S70P probably benign Het
Syncrip A T 9: 88,346,716 (GRCm39) F263I probably damaging Het
Synj2 T C 17: 6,088,220 (GRCm39) S1424P possibly damaging Het
Tax1bp3 A T 11: 73,071,941 (GRCm39) T89S possibly damaging Het
Tcaim G A 9: 122,648,092 (GRCm39) probably null Het
Tcp10c T C 17: 13,582,438 (GRCm39) I240T possibly damaging Het
Ttll8 G T 15: 88,801,442 (GRCm39) N415K probably benign Het
Tut7 T C 13: 59,969,463 (GRCm39) E144G probably benign Het
Ugcg T C 4: 59,217,111 (GRCm39) S212P possibly damaging Het
Vmn2r32 T C 7: 7,482,807 (GRCm39) K56E probably benign Het
Vmn2r55 T C 7: 12,386,000 (GRCm39) E660G probably damaging Het
Vmn2r7 T C 3: 64,598,301 (GRCm39) N752S probably benign Het
Vps54 T A 11: 21,225,005 (GRCm39) M167K probably benign Het
Vwa2 A C 19: 56,897,791 (GRCm39) M699L probably benign Het
Wdr59 A G 8: 112,192,494 (GRCm39) V689A Het
Whamm T G 7: 81,235,995 (GRCm39) N399K probably damaging Het
Zfp760 A G 17: 21,941,760 (GRCm39) K312E probably benign Het
Zkscan3 C A 13: 21,578,983 (GRCm39) V171L 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
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'- CCTTGGGGATGACAGAATCAG -3'
(R):5'- TCCTCTGTGCAGGATCCATG -3'

Sequencing Primer
(F):5'- TGACAGAATCAGCCAGGAAC -3'
(R):5'- CATAGTTCTAACGGCAAGTCTGTGTC -3'
Posted On 2019-06-26